Gene Summary

AT-rich interaction domain 4A
A630067N03Rik,  Rbbp1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
preweaning lethality, incomplete penetrance Arid4atm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

View all 176 images

Human diseases caused by Arid4a 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 Arid4a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Coxa Vara
Coxa vara OMIM:122750
Upington Disease
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... ORPHA:3408
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Upington Disease
Arthralgia of the hip, Broad femoral neck, Flattened femoral head OMIM:191520
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Abnormality of bone marrow stromal ce... ORPHA:86843
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Pancytopenia, Anemia of inadequate production, Acute myeloid leukemia, Neutro... ORPHA:75564
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... OMIM:254450
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutro... OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Megakaryocyte nucleus hypolobula... OMIM:614172
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Granulocytic hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Polycythemia Vera
Gingival bleeding, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Po... ORPHA:729
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Abnormal bleeding, Abnorma... ORPHA:86841
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hematological neoplasm, Poikilocy... ORPHA:824
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Leukocytosis, Multicentric femoral head ossification, Delayed femoral head ossific... ORPHA:168621
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Increased megakaryocyte co... ORPHA:457077
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire... OMIM:139090
Essential Thrombocythemia
Acute leukemia, Abnormal bone marrow cell morphology, Abnormal bleeding, Bruising susceptibility,... ORPHA:3318
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Granulocytic hyperplasia, Hepatomegaly, Eosinophilia, Mon... OMIM:226990
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Acetabular dysplasia, Talipes equinovarus, Hip dysplasia, Coxa valga OMIM:613618
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal... OMIM:612840
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising... OMIM:187900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Abnormal bleeding, Anemia of inadequate productio... ORPHA:98826
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Thrombocytopenia, Neutropenia, An... OMIM:159550
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... ORPHA:2585
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Thrombocytopenia 6
Myelofibrosis, Abnormal bleeding, Bone marrow hypercellularity, Spontaneous, recurrent epistaxis,... OMIM:616937
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Bone marrow arrest at the promyelocytic stage, Anorectal abscess, Dysplastic granulopoesis, Monoc... OMIM:620534
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Megakaryocyte dysplasia, Pancytop... OMIM:619041
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia, Bone marrow arrest at the promyelocytic stage OMIM:300299
Adult Idiopathic Neutropenia
Abnormal bone marrow cell morphology, Granulocytic hypoplasia, Lymphopenia, Bone marrow hypercell... ORPHA:2688
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder OMIM:607685
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:617014
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... OMIM:616871
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Ascites, Hepatosplenomegaly, ... ORPHA:98850
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Abnormality of multiple cell l... ORPHA:67044
Whim Syndrome 2
Myelokathexis, Chronic neutropenia OMIM:619407
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Neutrophilia, Hereditary
Granulocytic hyperplasia, Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Bone marrow maturation arrest, Neutropenia OMIM:616022
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Portal fibrosis... ORPHA:3260
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,... ORPHA:3226
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Neutrophilia, Hepatom... ORPHA:98849
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Folate Malabsorption, Hereditary
Ataxia, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Athetosis OMIM:229050
Tibial Hemimelia
Absent tibia OMIM:275220
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Ataxia ORPHA:2802
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Respiratory distress, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis, Thrombo... ORPHA:79312
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia ORPHA:90023
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Hemochromatosis, Type 3
Impotence, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, ... OMIM:604250
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Castleman Disease
Myelofibrosis, Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Follicular hyperplasia, G... ORPHA:160
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Lymphoma, ... OMIM:308240
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Premature graying of hair, Pancytopenia... OMIM:614742
Lymphedema, Primary, With Myelodysplasia
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia OMIM:614038
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia OMIM:616604
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia... ORPHA:289916
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,... OMIM:184255
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Myelod... OMIM:619151
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia OMIM:266130
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormality of thrombocytes, Abnormality o... ORPHA:721
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure ORPHA:46532
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Hypoplasia of the femoral head, Talipes equinovarus, Flat capital femoral e... OMIM:226900
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, H... ORPHA:486
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Respiratory distress, Pulmonary hemo... ORPHA:238459
Ollier Disease
Multiple enchondromatosis, Osteolysis, Neoplasm, Hemangioma, Anemia, Sarcoma, Lymphangioma, Visce... ORPHA:296
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bone marrow cell morpholo... ORPHA:86839
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia OMIM:616435
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... OMIM:614743
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... ORPHA:98827
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia OMIM:252270
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract... OMIM:619523
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Osteopetros... OMIM:259710
Propionic Acidemia
Cardiomyopathy, Pancytopenia, Apnea, Hepatomegaly, Cerebellar hemorrhage, Lethargy, Pancreatitis,... OMIM:606054
Rhabdoid Tumor
Renal neoplasm, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Lymphadenopathy, An... ORPHA:69077
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia ORPHA:859
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Specific Granule Deficiency 2
Osteopenia, Bone marrow maturation arrest, Hirsutism, Absent neutrophil specific granules, Thromb... OMIM:617475
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Immunodeficiency 76
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... ORPHA:514
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... OMIM:300835
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Primary Familial Polycythemia
Epistaxis, Abnormal bleeding, Polycythemia, Abnormal hemoglobin ORPHA:90042
Mu-Heavy Chain Disease
Abnormal bone marrow cell morphology, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:100024
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Anemia, Gait imbalance, Thrombocytopenia, Respiratory distress ORPHA:673
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia OMIM:189800
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Whim Syndrome 1
Myelokathexis, Verrucae, Abnormal bone marrow cell morphology, Bone marrow hypercellularity, Neut... OMIM:193670
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal bleeding, Hepatic failu... ORPHA:398124
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bon... ORPHA:2905
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymphadenopathy ORPHA:66661
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Petechiae, Lymphadenopat... ORPHA:79477
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Agammaglobulinemia 3, Autosomal Recessive
Absent circulating B cells, Neutropenia, Abnormal T cell morphology OMIM:613501
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Lymphadenopathy, N... OMIM:615387
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Aicardi-Goutieres Syndrome 6
Splenomegaly, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Short greater sciatic notch, Coxa valga OMIM:271620
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow... ORPHA:1802
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, B... ORPHA:318
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hepatic failure, Congestive heart failure, Leukopenia, Splenomegaly, Hyperhidrosis, Thrombocytope... ORPHA:108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease... ORPHA:169154
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Nail dystrophy, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop... OMIM:619220
N Syndrome
Leukemia, Neoplasm OMIM:310465
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Primary Erythromelalgia
Leukemia, Vasculitis, Abnormality of thrombocytes ORPHA:90026
Systemic Lupus Erythematosus 17
Hypertensive crisis, Alopecia, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon,... OMIM:301080
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Kasabach-Merritt Phenomenon
Neoplasm of the skin, Hypopnea, Microangiopathic hemolytic anemia, Capillary hemangioma, Respirat... ORPHA:2330
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Pancytopenia, Leukope... ORPHA:507
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytop... ORPHA:27
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Felty Syndrome
Bone marrow hypocellularity, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly... ORPHA:47612
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea... ORPHA:98870
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased proportion of t... OMIM:616005
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Shwachman-Diamond Syndrome 1
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... OMIM:260400
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly,... OMIM:259720
Diffuse Cutaneous Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Abnormal bone marrow cell morphology, Abnormality of th... ORPHA:79456
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia, Nail dystrophy OMIM:618806
Schnitzler Syndrome
Vasculitis, Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increase... ORPHA:37748
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Tufted Angioma
Megakaryocytopenia, Neoplasm of the skin, Hemangioma of the lip, Hypertrichosis, Petechiae, Facia... ORPHA:1063
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevat... OMIM:620501
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Ataxia, Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Dy... OMIM:301310
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal bone marrow cell morphology, Abnormal bleeding, Bruising su... ORPHA:101096
Lig4 Syndrome
Acute leukemia, Abnormal bone marrow cell morphology, Lymphoma, Pancytopenia, Leukocytosis, Low a... ORPHA:99812
Fetal Parvovirus Syndrome
Anemia, Ascites, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:610329
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia OMIM:615085
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Fol... OMIM:601859
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, ... OMIM:611490
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hypogonadism, Hepatosplenomegaly, Adrena... ORPHA:300298
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Ecch... ORPHA:88
Chediak-Higashi Syndrome
Ataxia, Silver-gray hair, Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil... OMIM:214500
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Hemangioma, Intracranial hemorrhage ORPHA:284227
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... OMIM:112450
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Pulmonary arterial hypertension, Tachypnea, Thrombocytopenia, Neutropenia, Normochromic... OMIM:614857
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, Coomb... OMIM:304790
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Desmoplastic Small Round Cell Tumor
Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Anem... ORPHA:83469
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Autoimmune hemoly... OMIM:603909
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomeg... OMIM:300853
Non-Involuting Congenital Hemangioma
Visceral hemangioma, Congestive heart failure, Midfrontal capillary hemangioma, Hemangioma, Telan... ORPHA:141179
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Tachypnea, ... ORPHA:71275
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Long eyelashes, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, H... OMIM:301110
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... ORPHA:79303
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Waldenström Macroglobulinemia
Normocytic anemia, Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Monoclo... ORPHA:33226
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Ataxia, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet g... OMIM:603585
Gamma-Heavy Chain Disease
Abnormal bone marrow cell morphology, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune he... ORPHA:100026
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Premature graying of hair, Lymphopenia, Squamous cell carcinoma of the skin, Portal h... OMIM:620365
Congenital Factor Xiii Deficiency
Gingival bleeding, Epistaxis, Delayed onset bleeding, Hepatic failure, Prolonged bleeding followi... ORPHA:331
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Roch-Leri Mesosomatous Lipomatosis
Multiple lipomas, Purpura, Thrombocytopenia ORPHA:529
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia, Ataxia OMIM:616949
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Abnormal bleeding, Hepatitis, Cardiomyopathy, Hepatic failure, Respir... ORPHA:292
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Osteopetrosis, Autosomal Recessive 6
Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, Dense metaphyseal... OMIM:611497
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Respiratory distress, Leukopenia, Cerebellar hemorrhage, Lethargy, Pancreatitis, ... OMIM:251000
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic bone marrow, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hep... OMIM:620603
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Congenital Atransferrinemia
Anemia, Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Rapidly Involuting Congenital Hemangioma
Visceral hemangioma, Congestive heart failure, Midfrontal capillary hemangioma, Hemangioma, Telan... ORPHA:141184
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Lethargy, Gait disturbance, Megaloblastic anemia, Neutropenia, Jaundice OMIM:250940
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute he... OMIM:619644
Ataxia, Dysdiadochokinesis, Lymphoma, Inability to walk, Lymphopenia, Abnormal hair morphology, D... OMIM:208900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Coarse hair, Congestive heart failure, Hypertrophic cardiomyopathy, ... OMIM:617303
Transcobalamin Ii Deficiency
Pancytopenia, Megaloblastic bone marrow, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, L... OMIM:275350
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Immunodeficiency 115 With Autoinflammation
Verrucae, Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anem... OMIM:620632
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Nail dystrophy, Telangiectasia, Tachypnea, Rayna... OMIM:615934
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Abcd Syndrome
Albinism, White eyelashes, White eyebrow, Polycythemia OMIM:600501
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Megakaryocyte nucleus hypolobulation, Refr... OMIM:153550
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Alpha-Heavy Chain Disease
Alopecia, Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Cardiomyopathy, Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypo... OMIM:616084
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Sitosterolemia 1
Stomatocytosis, Giant platelets, Abnormal bleeding, Reticulocytosis, Splenomegaly, Episodic hemol... OMIM:210250
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, ... ORPHA:158048
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Bone marrow hypocellularity, Gastrointestinal hemorrhage, Osteopenia, Aplastic anemia, Al... OMIM:613990
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... ORPHA:174
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Mantle Cell Lymphoma
B-cell lymphoma, Abnormal bone marrow cell morphology, Splenomegaly, Lymphadenopathy ORPHA:52416
Nasu-Hakola Disease
Acute leukemia, Reduced bone mineral density, Bone cyst ORPHA:2770
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:614727
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm... OMIM:616050
Holocarboxylase Synthetase Deficiency
Alopecia, Respiratory distress, Lethargy, Tachypnea, Thrombocytopenia, Ataxia ORPHA:79242
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Hepatomegaly, Lym... ORPHA:858
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Megaloblastic bone mar... ORPHA:2169
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syn... OMIM:619705
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Broad femoral neck, Arthralgia of the hip, Wide distal femoral metaphysis... ORPHA:99642
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Livedoid Vasculopathy
Graves disease, Polycythemia, Macular purpura, Pancytopenia, Ischemic stroke, Leukocytosis, Ecchy... ORPHA:542643
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
3-Methylglutaconic Aciduria, Type Viia
Anemia, Neutropenia, Anisopoikilocytosis OMIM:619835
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Hodgkin lymphoma, Absent circulating B cells, Generalized lymphadenop... OMIM:620282
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum... ORPHA:93333
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Respiratory distress, Pancytopenia, Hepatomegaly, Lethargy, Thrombocytope... OMIM:251110
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Premature... OMIM:613989
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism,... OMIM:227650
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Respiratory distress, Leukopenia, Leukocytosis, Lethargy, Tachypnea, Neutroph... ORPHA:36238
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Bone marrow hypocellularity, Alopecia, Increased mean corpuscular volume, Aplastic a... OMIM:127550
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, ... OMIM:600901
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Immunodeficiency 95
Respiratory distress, Lymphopenia OMIM:619773
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy... ORPHA:309854
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Pancreatoblastoma, Oropharyngeal squamous cell carcinoma, Squamous cell ... ORPHA:443167
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... OMIM:619375
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Isovaleric Acidemia
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Lethargy, Cerebellar hemorrhage, Thrombocy... OMIM:243500
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly OMIM:231000
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim... ORPHA:572
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegal... ORPHA:158029
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
X-Linked Agammaglobulinemia
Alopecia, Hepatitis, Neoplasm, Abnormality of the lymphatic system, Abnormality of the tonsils, T... ORPHA:47
Diffuse Neonatal Hemangiomatosis
Ascites, Hepatomegaly, Thrombocytopenia, Anemia, Hemangiomatosis, Visceral angiomatosis ORPHA:2123
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia OMIM:613554
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Megakaryocyte dysplasia, Congestive heart failure, Tricuspid regurgi... ORPHA:508542
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Elevated circulating hepatic transaminase concentration, Neutr... OMIM:618752
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Transient ischemic attack, Reticulocytos... OMIM:274150
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat... OMIM:601775
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Bruising susceptibility, ... ORPHA:99828
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c... OMIM:619463
Gaucher Disease Type 1
Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Hepatomegaly, Mult... ORPHA:77259
Familial Thrombocytosis
Chronic myelogenous leukemia, Abnormal bleeding, Transient ischemic attack, Cerebral ischemia, Sp... ORPHA:71493
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, Pulmonary ... ORPHA:277
Evans Syndrome
Epistaxis, Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Lethargy, Syncope, Ne... ORPHA:1959
Brain abscess, Cutaneous abscess, Respiratory distress, Cervical lymphadenopathy, Abnormal nasoph... ORPHA:3392
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Noonan Syndrome 12