Gene Summary

AT rich interactive domain 4A (RBP1-like)
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 0.72% (4 of 558)
aorta 0.18% (1 of 552)
blood vessel 0.0%
bone 0.0%
brain 0.73% (4 of 545)
brainstem 0.36% (2 of 548)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 552)
cerebellum 0.55% (3 of 548)
cerebral cortex 0.37% (2 of 545)
eye 0.0%
gall bladder 0.0%
heart 0.19% (1 of 540)
hippocampus 0.55% (3 of 548)
hypothalamus 0.36% (2 of 548)
kidney 3.52% (19 of 540)
large intestine 1.85% (10 of 540)
liver 0.0%
lower urinary tract 0.18% (1 of 558)
lung 0.18% (1 of 554)
lymph node 0.18% (1 of 549)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.36% (2 of 549)
ovary 0.19% (1 of 537)
oviduct 0.0%
pancreas 0.74% (4 of 543)
parathyroid gland 0.19% (1 of 528)
peripheral nervous system 0.18% (1 of 548)
peyer's patch 0.61% (1 of 165)
pituitary gland 0.18% (1 of 556)
prostate gland 2.18% (12 of 550)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 551)
small intestine 1.64% (9 of 550)
spinal cord 0.54% (3 of 551)
spleen 0.54% (3 of 554)
stomach 1.83% (10 of 546)
striatum 0.55% (3 of 547)
testis 1.08% (6 of 553)
thymus 0.18% (1 of 547)
thyroid gland 2.95% (16 of 543)
trachea 0.55% (3 of 547)
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
Short femur, Hypoplastic pelvis OMIM:619545
Coxa Vara
Coxa vara OMIM:122750
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Upington Disease
Flat capital femoral epiphysis, Arthralgia of the hip, Broad femoral neck, Premature epimetaphyse... ORPHA:3408
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Upington Disease
Arthralgia of the hip, Broad femoral neck, Flattened femoral head OMIM:191520
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Essential Thrombocythemia
Increased megakaryocyte count, Myelofibrosis, Abnormality of bone marrow cell morphology, Splenom... ORPHA:3318
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Abnormality of tibia morphology OMIM:188800
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Megakaryocyte nucleus hypolobulation, Bone marrow hypercellularity, Myelofibrosis, ... ORPHA:86843
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:614470
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Granulocytopenia, Thrombocytopenia, Normocytic anemia, Congestive heart failure, Th... ORPHA:75564
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Granulocytic hypoplasia, Steroid-responsive anemia OMIM:618310
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Bone marrow hypocellularity, Hyperosto... OMIM:231095
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Refr... OMIM:133180
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anemia, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Gray Platelet Syndrome
Bruising susceptibility, Abnormal number of alpha granules, Myelofibrosis, Menorrhagia, Impaired ... OMIM:139090
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Megakaryocyte nucleus hypolobulation, Bone marrow hypercellularity, Leukopenia, Bone marrow hypoc... ORPHA:86841
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormality of pelvic girdle bone morphology, Osteopathia striata, Abnormality of the metaphysis,... ORPHA:2779
Thrombocytopenia 2
Bruising susceptibility, Leukocytosis, Thrombocytopenia, Increased megakaryocyte colony forming u... OMIM:188000
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Bruising susceptibility, Splenomegaly, HbH hemoglobin, Neutropenia, Dyspnea, M... ORPHA:231401
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myelodysplasia, Myeloid leukemia, Aplastic ... OMIM:614172
Primary Myelofibrosis
Pancytopenia, Hemangioma, Anemia, Thrombocytopenia, Bone marrow hypercellularity, Petechiae, Ecch... ORPHA:824
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Leukocytosis, Delayed femoral head ossification, Multicentric femoral head ossific... ORPHA:168621
Coxopodopatellar Syndrome
Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology, Abnormality of... ORPHA:1509
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, A... OMIM:612840
Fanconi Anemia, Complementation Group G
Leukemia, Neutropenia, Anemia, Myelodysplasia, Thrombocytopenia OMIM:614082
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia, Abnormal bleeding OMIM:188020
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Dyspnea, Neutropenia, Abnormal cardiac ventricula... ORPHA:98826
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Coxa valga, Talipes equinovarus, Genu valgum, Hip dysplasia, Acetabular dysplasia OMIM:613618
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Colon cancer, Anemia, Neoplasm of the lung, Hodgkin lymphoma, Thro... ORPHA:158057
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent pneumonia, Leukopenia, Hepatosplenomegaly, Impaired ne... OMIM:618986
Polycythemia Vera
Increased megakaryocyte count, Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, I... OMIM:263300
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Polycythemia Vera
Bruising susceptibility, Myelofibrosis, Portal hypertension, Gastrointestinal hemorrhage, Gingiva... ORPHA:729
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Myelofibrosis, Gastrointestinal hemorrhage, Ecchymosis, Absen... OMIM:187900
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Shallow acetabular fossae, Irregular capital femoral epiphysis, B... OMIM:142669
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Lymphoma, Asthma, Acute myeloid leukemia, M... OMIM:616871
Thrombocytopenia 6
Bone marrow hypercellularity, Myelofibrosis, Osteoporosis, Thrombocytopenia, Spontaneous, recurre... OMIM:616937
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Short femoral neck, Flared femoral metaphysis, Broad femoral neck, Proximal femoral metaphyseal i... OMIM:609324
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Ataxia, Unsteady gait, Neutropenia, Anemia, Thromboc... OMIM:159550
Whim Syndrome 2
Chronic neutropenia, Myelokathexis OMIM:619407
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Adult Idiopathic Neutropenia
Bone marrow hypercellularity, Monocytosis, Abnormality of bone marrow cell morphology, Neutropeni... ORPHA:2688
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Premature graying of hair, Osteopenia, Bone marrow hypocellularity, Crackles, Cough... OMIM:614742
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy OMIM:607685
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Megakaryocyte dysplasia, Neutr... OMIM:619041
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Purpura, Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Beta-Thalassemia Intermedia
Hypothyroidism, Osteoporosis, Persistence of hemoglobin F, Cholelithiasis, Decreased liver functi... ORPHA:231222
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... OMIM:153600
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Pancreatitis, Intracranial hemorrhage, T... ORPHA:3260
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia, Verrucae OMIM:614868
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Abnormal megakaryocyte morphology, Abnor... ORPHA:67044
Immunodeficiency 8
Lymphopenia OMIM:615401
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Gastroin... ORPHA:98850
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... OMIM:617719
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Castleman Disease
Myelofibrosis, Abdominal mass, Generalized lymphadenopathy, Cough, Jaundice, Dyspnea, Anemia, Res... ORPHA:160
Immunodeficiency 40
Lymphopenia OMIM:616433
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphoma, Osteoporosis, Thrombocytopenia, Bone marrow hypercellularity, Normocytic anemia, Myelop... ORPHA:98849
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Dyschondrosteosis And Nephritis
Ulnar bowing, Radial bowing, Short tibia, Short forearm OMIM:127350
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair ORPHA:90023
Tibial Hemimelia
Absent tibia OMIM:275220
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Ataxia ORPHA:2802
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Amenorrhea, Purpura, Neutropenia, Anemia, Impotence, Cardiomyopath... OMIM:604250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Dyspnea, Anemia, Abnormal bleeding ORPHA:517
Primary Familial Polycythemia
Cough, Dyspnea, Exertional dyspnea, Polycythemia, Abnormal hemoglobin, Abnormal bleeding, Epistaxis ORPHA:90042
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased proportion of memory B cell... OMIM:615897
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:608971
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Thrombocytopenia, Myelodysplasia, Abnormal bleeding, Abnor... ORPHA:721
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Splenomegaly, Myocardial infarction, Exertional dyspn... OMIM:133100
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Thrombocytopenia, Abnormal platelet ... ORPHA:238459
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Lymphoma, Burkitt lymphoma, Splenomegaly, Hepato... OMIM:308240
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Short tibia, Increased laxity of ankles, Shor... ORPHA:93323
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system, Anemia, H... ORPHA:69077
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Dyspnea, Anemia, Bone-marrow foam cells, Decreased DLCO, Thrombocytop... OMIM:607616
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal bleeding, Abnormal hemoglobin, Thrombo... ORPHA:231393
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Refractory Anemia With Excess Blasts
Leukocytosis, Bone marrow hypocellularity, Retinal hemorrhage, Dysplastic granulopoesis, Abnormal... ORPHA:86839
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Lethargy, Neutropenia, Anemia, Cardiomyopathy, Respiratory distress, ... ORPHA:79312
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Myelodysplasia OMIM:162830
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia, Ataxia OMIM:266130
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Osteopenia, Pneumonia, Acute myeloid leukemia, Neutropenia, ... ORPHA:486
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Myelodysplasia, Thromboc... OMIM:619151
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Lethargy, Neutropenia, Anemia, Respiratory distress, Pancreatitis, Thrombocytopenia ORPHA:289916
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetros... OMIM:259710
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly, Ataxia, Gait disturbance ORPHA:2274
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Bone marrow hypercellularity, Leukocytosis, Central hypothyroidism, Cervical ... ORPHA:514
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Splenomegaly, B-cell lymphoma, B lymphocytopenia, Lymphad... OMIM:619164
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Myeloid leukemia OMIM:616604
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Specific Granule Deficiency 2
Recurrent pneumonia, Osteopenia, Bone marrow maturation arrest, Neutropenia, Anemia, Myelodysplas... OMIM:617475
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Short femoral neck, Hypoplasia of the odontoid process, Cox... OMIM:184255
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Refractory anemia with ringed sideroblasts, Thrombocytopenia, Reduced hemato... OMIM:619523
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Glioma Susceptibility 9
Astrocytoma, Glioma, Leukemia OMIM:616568
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Hypothyroidism, Osteopenia, Bone marrow hypocellularity, N... OMIM:618849
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Immunodeficiency 19
Lymphopenia OMIM:615617
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Irregular patellae, Epip... OMIM:609325
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Acute Promyelocytic Leukemia
Pancytopenia, Bruising susceptibility, Petechiae, Leukopenia, Leukocytosis, Ecchymosis, Oral cavi... ORPHA:520
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, Myeloid leukemia,... OMIM:614743
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ataxia, Jaundi... ORPHA:822
Unclassified Myelodysplastic Syndrome
Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Myelodysplasia, Multiple linea... ORPHA:98827
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Hepatit... ORPHA:444463
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hepatic failure, Leukopenia, Congestive heart failure, Splenomegaly, Myocardial infarction, Cough... ORPHA:108
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Myelodysplasia, Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hyperlysinemia, Type I
Anemia OMIM:238700
Transcobalamin Deficiency
Pancytopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Bruising susceptibility, Petechiae, Acanthocytosis, Anemia of i... OMIM:300367
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Hypertension OMIM:189800
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Whim Syndrome 1
Bone marrow hypercellularity, Abnormality of bone marrow cell morphology, Verrucae, Bronchiectasi... OMIM:193670
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Mu-Heavy Chain Disease
Abnormality of bone marrow cell morphology, Splenomegaly, Osteoporosis, Hepatomegaly, Abnormal B ... ORPHA:100024
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Hepatic failure, Leukocytosis, Increased bone mineral density... OMIM:259720
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Thrombocytopenia 5
Bruising susceptibility, Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Erectile dysfunction, Sclerosis of hand bone, Incr... ORPHA:2905
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Propionic Acidemia
Pancytopenia, Cerebellar hemorrhage, Tachypnea, Osteoporosis, Hepatomegaly, Lethargy, Neutropenia... OMIM:606054
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Myelodysplasia, Acute lymphoblastic leukemia OMIM:610738
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Osteoporosis, Anisopoikilocy... ORPHA:231214
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Ataxia, Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:229050
3-Methylglutaconic Aciduria, Type Viib
Neutropenia OMIM:616271
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Anemia, Sideroblastic, 4
Refractory anemia with ringed sideroblasts, Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Talipes, Rocker bottom foot, Overlapping fingers, Adducted thumb, U... ORPHA:1146
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hypothyroidism, Hepatomegaly, Neutropenia, Difficulty walking OMIM:251900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Prolo... OMIM:300908
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Hepatic failure, Abnormality of the liver, Arrhythmia, Sple... ORPHA:398124
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Bone marrow hypocellularity, Lymp... ORPHA:47612
Anemia, Gait imbalance, Thrombocytopenia, Respiratory distress ORPHA:673
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Leukocytosis, Leukopenia, Hypoxemia, Pneumonia, Neutrophilia, Hypotension, T... ORPHA:36238
Mast Cell Sarcoma
Mastocytosis, Sarcoma, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Short femoral neck, Flared iliac wing, Flared humeral metaphysis, Rhizomelia, Flared ... OMIM:183849
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch OMIM:271620
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Bruising susceptibility, Neuroblastoma, Impaired platelet aggregation, Lymphoma, Acute myeloid le... OMIM:601399
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Hypertrophic cardiomyopathy, Sp... ORPHA:848
Acute Erythroid Leukemia
Pancytopenia, Bone marrow hypercellularity, Leukopenia, Bone marrow hypocellularity, Anemia, Refr... ORPHA:318
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Colon cancer, Ly... ORPHA:524
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia, Megakaryocytopenia OMIM:604498
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Lethargy, Neutropenia, Anemia, Pulmonary arterial hypertension, Thrombocytopenia OMIM:614857
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Diaphyseal thickening, Ab... ORPHA:1802
Aregenerative Anemia
Pancytopenia, Bruising susceptibility, Bone marrow hypocellularity, Abnormality of bone marrow ce... ORPHA:101096
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased hematocrit, Ascites, Hemangioma, Polycythemia... ORPHA:284227
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Immunodeficiency 55
Neutropenia, Lymphadenopathy, Myelodysplasia OMIM:617827
Griscelli Syndrome Type 2
Pancytopenia, Premature graying of hair, Hypopigmentation of hair, Petechiae, Hemophagocytosis, S... ORPHA:79477
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Rhi... ORPHA:507
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Mitral regurgitation, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Neu... OMIM:612541
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Pneumonia, Abnormally low T cell receptor excision circle level, Nail dystrophy OMIM:618806
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Hypermanganesemia With Dystonia 1
Bradykinesia, Decreased liver function, Hepatomegaly, Steppage gait, Elevated hepatic transaminas... OMIM:613280
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Ataxia, Hepatomegaly, Lethargy, Anemia, Cardiomyopathy, Pancreatit... ORPHA:27
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-s... OMIM:615513
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Gastrointestinal hemorrhage, Myeloproliferative disorder, Abnormality o... ORPHA:79456
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomeg... OMIM:619220
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Bruising susceptibility, Leukocyte inclusion bodies, Menorrhagia, Giant platelets, Myocardial inf... OMIM:155100
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Methemoglobinemia, Polycythemia OMIM:250800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Cardiomegaly, Hepatosplenomegaly, Leukocytosis, Tachypnea, Anis... OMIM:618278
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Arrhythmia, Sarcoma, Asthma, Splenom... ORPHA:98292
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Wiskott-Aldrich Syndrome
Microcytic anemia, Lymphoma, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the... ORPHA:906
Primary Erythromelalgia
Vasculitis, Leukemia, Abnormality of thrombocytes ORPHA:90026
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Osteopetrosis, Reticulocytosis... OMIM:611490
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Neonatal respiratory distress, Acute myeloid leu... OMIM:260400
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia, Broad-based gait, Synophrys OMIM:618067
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia OMIM:598500
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
N Syndrome
Leukemia, Neoplasm OMIM:310465
Chediak-Higashi Syndrome
Bruising susceptibility, Hypopigmentation of hair, Leukopenia, Giant neutrophil granules, Hemopha... OMIM:214500
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocy... OMIM:603554
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia, Alopecia, Nail dystrophy OMIM:601705
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Retinal hemorrhage, Bone marrow hypocellularity, Gingival bleeding, Neu... ORPHA:88
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-posit... OMIM:300853
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Lymphoma, Splenomegaly, Hepatomegaly, Anemia, Vascu... ORPHA:37748
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Leukemia, Gastrointestinal hemorrhage, Normocytic anemia... ORPHA:33226
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Dyspnea ORPHA:228312
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, Recurrent sinusitis... OMIM:619281
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Apnea, Respiratory failure, Bradycardia OMIM:617248
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Hypoxemia, Tachypnea, Anisocytosis, Miscarriage, Jaundice,... ORPHA:71275
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Recurrent sinusitis, Lymphadenopathy,... OMIM:613101
Non-Involuting Congenital Hemangioma
Midfrontal capillary hemangioma, Visceral hemangioma, Congestive heart failure, Telangiectasia of... ORPHA:141179
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased hematocrit, Hypotension, Pulmonary arterial hypertension, Hemangi... OMIM:263400
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... ORPHA:158061
Kasabach-Merritt Syndrome
Tufted angioma, Petechiae, Leukopenia, Purpura, Hepatic hemangioma, Abnormal lymphatic vessel mor... ORPHA:2330
Congenital Dyserythropoietic Anemia Type Iii
Oral cavity bleeding, Gingival bleeding, Anisocytosis, Anemia, Post-partum hemorrhage, Increased ... ORPHA:98870
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Lig4 Syndrome
Pancytopenia, Hypothyroidism, Leukocytosis, Lymphoma, Abnormality of bone marrow cell morphology,... ORPHA:99812
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Azoospermia, Anemia, Elevated hepatic ... ORPHA:300298
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Ascites ORPHA:295
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Elevated hepatic transaminase OMIM:610329
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Bruising susceptibility, Petechiae, Ecchymosis, Menorrhagia, Gingival bleeding, Prolon... OMIM:153670
Immunodeficiency 36
Splenomegaly, B-cell lymphoma, Bronchiectasis, Chronic lymphatic leukemia, Lymphopenia OMIM:616005
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Pulmonary h... OMIM:619644
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Hemolytic anemia, Prolonged bleeding time, Reti... OMIM:314050
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Hypotensi... ORPHA:292
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Resp... OMIM:610333
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... ORPHA:331
Tufted Angioma
Facial hemangioma, Petechiae, Hemangioma of the lip, Thrombocytopenia, Anemia, Neoplasm of the sk... ORPHA:1063
Schimke Immunoosseous Dysplasia
Osteopenia, Coarse hair, Waddling gait, Thrombocytopenia, Fine hair, Neutropenia, Anemia, Transie... OMIM:242900
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly OMIM:615593
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia, Arrhythmia OMIM:616949
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Recurrent pneumonia, Abnormal T cell morphology, Chronic sinusitis OMIM:613502
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Menorrhagia, Anemia, Abnormal bleeding, Spontaneous hematomas, Epistaxis OMIM:616176
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Barth Syndrome
Dilated cardiomyopathy, Granulocytopenia, Arrhythmia, Congestive heart failure, Hypertrophic card... OMIM:302060
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Giant platel... OMIM:231200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent pneumonia, Pulmonary insufficiency, Absence of lymph node... ORPHA:277
Desmoplastic Small Round Cell Tumor
Sarcoma, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Neoplasm of the central nervous sys... ORPHA:83469
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Alopecia, Premature ovari... ORPHA:100025
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Osteopetrosis, Autosomal Recessive 6
Cortical sclerosis of the iliac wing, Dense metaphyseal bands, Erlenmeyer flask deformity of the ... OMIM:611497
Rapidly Involuting Congenital Hemangioma
Midfrontal capillary hemangioma, Visceral hemangioma, Congestive heart failure, Telangiectasia of... ORPHA:141184
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Ataxia, Jaundice, Hepatomegaly, Thrombocytopenia OMIM:613839
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis, Absent circulating B cells, Transient neutropenia OMIM:619707
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Bronchiectasis, Neutropenia, B lymph... OMIM:619705
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Coarse hair, Conge... OMIM:617303
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Petechiae, Gastrointestinal hemorrhage, Coombs-positive hemolytic anemia, Autoimmun... OMIM:603909
Pericardial Effusion, Chronic
Constrictive pericarditis, Polycythemia OMIM:260900
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Portal hypertension, Hepatosplenomegaly, Bone marrow hypocellular... ORPHA:210136
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia, Multiple lipomas ORPHA:529
Chromosome 5Q Deletion Syndrome
Megakaryocyte nucleus hypolobulation, Refractory macrocytic anemia, Myelodysplasia, Anemia of ina... OMIM:153550
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Hepatosplenomegaly, Osteopenia, Coronal craniosynostosis, Incom... ORPHA:313855
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic h... OMIM:210250
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Aplastic anemia, De... ORPHA:811
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Lethargy, Neutropenia, Anemia, Respiratory distress, Thrombocytopenia OMIM:251110
Neoplasm of the gastrointestinal tract, Non-Hodgkin lymphoma, Leukemia, Neoplasia of the pleura, ... ORPHA:99867
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Short thumb, Short distal phalanx of finger, Hitchhiker thumb, Sh... OMIM:112450
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Subcutaneous hemorrhage, Pulmonary hemorrhage, Ataxi... OMIM:603585
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Autoi... ORPHA:572
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Dengue Fever
Bruising susceptibility, Petechiae, Leukopenia, Gastrointestinal hemorrhage, Gingival bleeding, H... ORPHA:99828
Mantle Cell Lymphoma
Abnormality of bone marrow cell morphology, Splenomegaly, Lymphadenopathy, B-cell lymphoma ORPHA:52416
Congenital Atransferrinemia
Anemia, Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Osteosarcoma, Breast carcinoma, Lung a... OMIM:151623
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Tachypnea, Nail dys... OMIM:615934
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Ecchymosis, Hemophagocytosis, Purpura, Splenomegaly, Decrease... ORPHA:540
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Ataxia, Hepatom... ORPHA:158048
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neut... OMIM:304790
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Brittle hair, Splenomegaly, Ataxia, Cardiomyopathy, B lymph... OMIM:616084
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Pneumonia, Splenomegaly, Hepatomegaly, Bronchiectasis, Recurrent sinusitis, ... OMIM:607594
Griscelli Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Leukopenia, Bone marrow hypocellularity, ... ORPHA:381
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Lethargy, Neutropenia, Anemia, Respiratory distress, Thrombocytopenia OMIM:251100
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Splenomegaly, Hepatomegaly, Anemia, Apnea, Thrombocytopenia OMIM:230900
Bone Marrow Failure Syndrome 4
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:618116
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Thrombocytopenia, Neoplasm, Neutropenia, Anemia, Hepatitis, Alope... ORPHA:47
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Bone marrow hypocellularity, Interstitial pneumonitis, Osteoporosis, T... OMIM:127550
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:608404
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:613554
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Arrhythmia, Decreased liver function, Hypertension, Respiratory insufficien... OMIM:617021
Sinusitis, T lymphocytopenia, Non-Hodgkin lymphoma, Female hypogonadism, Leukemia, Lymphoma, Abno... OMIM:208900
Pelviscapular Dysplasia
Brachydactyly, Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Humero... ORPHA:93333
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Portal hypertension,... ORPHA:64743
Avian Influenza
Nonproductive cough, Leukopenia, Hypoxemia, Pneumonia, Congestive heart failure, Tachypnea, Respi... ORPHA:454836
Evans Syndrome
Bruising susceptibility, Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Jau... ORPHA:1959
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Abnormal bleeding, Prolonged ble... OMIM:600208
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Cutaneous abscess, Cough, Pl... ORPHA:3392
Holocarboxylase Synthetase Deficiency
Tachypnea, Ataxia, Lethargy, Respiratory distress, Alopecia, Thrombocytopenia ORPHA:79242
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Lichtenstein Syndrome
Neutropenia, Hirsutism, Osteoporosis, Synophrys OMIM:246550
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant pla... OMIM:187800
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Ecchymosis, Macular purpura, Graves disease, Telangiectasia of the sk... ORPHA:542643
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Miscarriage, Pulmonary arterial hypertensio... ORPHA:71493
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Prolonged bleeding time... OMIM:605249
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Exertional dyspnea... ORPHA:90033
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Thrombocytopenia, Reduced natura... OMIM:616050
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Hepatomegaly, Ataxia, Thrombocytopenia OMIM:231000
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Pneumonia, Plasmacytosis OMIM:247800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Leukemia, Meningioma OMIM:602501
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Hypothyroidism, Recurrent pneumonia, Pneumonia, Lymphoma, Chronic neutropenia, Auto... OMIM:614700
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Dyspnea, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Cirrhosis, Telangiectasia, Th... ORPHA:101028
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Osteoporosis OMIM:614727
Fanconi Anemia, Complementation Group A
Pancytopenia, Bruising susceptibility, Leukemia, Neutropenia, Anemia, Male infertility, Reticuloc... OMIM:227650
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Secondary amenorrhea, Anemia, Cardiomyopath... OMIM:613313
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Elevated hepatic transaminase, Lymphadenopathy, Ascites, Cardiome... ORPHA:858
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Squamous cell carcinoma, Pneumonia, Asthma, Verrucae, Recurrent sinusitis, B l... ORPHA:217390
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Cerebellar hemorrhage, Lethargy, Thrombocy... OMIM:243500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Elevated circulating alanine aminotra... OMIM:615559
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Diffuse Neonatal Hemangiomatosis
Visceral angiomatosis, Hemangiomatosis, Hepatomegaly, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Abno... ORPHA:229717
Methylcobalamin Deficiency Type Cble
Pancytopenia, Abnormality of the liver, Megaloblastic bone marrow, Osteoporosis, Lethargy, Neutro... ORPHA:2169
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Cyclic Neutropenia
Sinusitis, Decreased eosinophil count, Peritonitis, Thrombocytopenia, Tooth abscess, Recurrent to... ORPHA:2686
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production, Bone marrow hypocellularity OMIM:614900
Sepsis In Premature Infants
Abnormal respiratory system physiology, Petechiae, Leukocytosis, Purpura, Splenomegaly, Hypotensi... ORPHA:90051
Fanconi Anemia, Complementation Group E
Pancytopenia, Bruising susceptibility, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Hypergon...