Not currently registered for phenotyping at IMPC

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

Gene Summary

bromodomain containing 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Brd1 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 Brd1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Growth delay, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume,... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Growth delay, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemi... OMIM:615631
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Apolipoprotein A-I Deficiency
Corneal opacity, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Microcytic anemia, Cholelithiasis, Hepatomegaly, Thrombocytopenia, Hepatitis, Anemia, Splenomegal... ORPHA:848
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Jaundice, Thrombocytopenia, Pancytopenia, Pallor OMIM:613839
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin, Hydrocephalus, Pallor ORPHA:163596
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Pa... ORPHA:824
Elevated hepatic transaminase, Abnormal macrophage morphology, Hepatomegaly, Pancytopenia, Thromb... ORPHA:507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia OMIM:312500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Hepatocellular carcinoma, Extramedullary he... ORPHA:231222
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Decreased mean corpuscular volume, Hepatospleno... OMIM:611590
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Anisocytosis, Anemia, Short statu... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Pallor, Short stature ORPHA:49827
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Growth delay, Reticulocytopenia, Anisopoikilocytosis, Dysplastic e... ORPHA:300298
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega... OMIM:615285
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Short stature, Anemia ORPHA:3319
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Pallor, Splenomegaly ORPHA:56425
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Dermatitis, Atopic
Keratoconus, Facial erythema, Conjunctivitis, Cataract, Pallor, Dry skin OMIM:603165
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Persistence of hemoglobin F, Decreased mean corpuscular... ORPHA:231226
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Corneal opacity, Patent ductus arteriosus, Intrauterine growth re... ORPHA:290
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:98375
Anemia ORPHA:655
Retinitis Pigmentosa 60
Pallor OMIM:613983
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Hepatosplenomegaly, Anemia OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Thrombocytopenia, Conjunctivitis, Anemia, ... OMIM:603552
Retinitis Pigmentosa 81
Pallor OMIM:617871
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproli... ORPHA:3226
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Intrauterine growth retardation ORPHA:295
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Optic Atrophy 9
Pallor OMIM:616289
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Thrombocytopenia, Anemia, Intrauterine gro... ORPHA:858
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Fanconi Anemia, Complementation Group G
Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Peripheral Cone Dystrophy
Pallor OMIM:609021
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive ... ORPHA:331206
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Hepatomegaly, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, H... OMIM:611490
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Neutropenia, Anemia, Splenomegaly OMIM:602079
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly OMIM:613313
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Growth delay, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Hyperlysinemia, Type I
Ectopia lentis, Anemia OMIM:238700
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Bone Marrow Failure Syndrome 4
Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short stature, Dry skin OMIM:618116
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Thrombocytopenia, Petechiae, Giant platelets, Anemia, Platelet anisocytosis OMIM:187800
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Hepatomegaly, Abno... ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Splenomegaly, Pallor ORPHA:90033
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Hemochromatosis, Type 3
Cirrhosis, Elevated hepatic transaminase, Purpura, Lymphopenia, Neutropenia, Anemia OMIM:604250
Transaldolase Deficiency
Cirrhosis, Premature skin wrinkling, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:101028
Optic Atrophy 1
Pallor OMIM:165500
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly ORPHA:100024
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Short stature, Pancytopenia, Anemia OMIM:616435
Alpha-Heavy Chain Disease
Hepatomegaly, Growth delay, Anemia, Splenomegaly ORPHA:100025
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia ORPHA:318
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Eosinophilia ORPHA:90045
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly, Anemia, Ma... OMIM:615438
Hemochromatosis, Type 4
Cataract, Anemia OMIM:606069
Rosaï-Dorfman Disease
Anemia, Erythema ORPHA:158014
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Short stature, Anemia OMIM:618165
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Anemia ORPHA:2123
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Pallor ORPHA:54028
Sepsis In Premature Infants
Purpura, Leukocytosis, Neutropenia, Hepatomegaly, Jaundice, Thrombocytopenia, Decreased liver fun... ORPHA:90051
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepato... OMIM:612840
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Cholestasis, Hepatomegaly, Thrombocytopenia, Decreased liver function, ... OMIM:608104
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Retinitis Pigmentosa 70
Pallor OMIM:615922
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate produ... ORPHA:86839
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Growth delay, Hepatomegaly, Pancytopenia, Thrombocytope... OMIM:259720
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Focal pancreatic islet hyperplasia, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276575
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Retinitis Pigmentosa 27
Pallor OMIM:613750
Fumarase Deficiency
Polycythemia, Pallor, Hepatic failure, Cholestasis OMIM:606812
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Growth delay, Neutropenia, Hepatomegaly, Thrombocytopenia, Pancreatitis, Anemia ORPHA:289916
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Fanconi Anemia, Complementation Group I
Neutropenia, Short stature, Intrauterine growth retardation, Astigmatism, Pallor OMIM:609053
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276556
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Thrombocytopenia 5
Thrombocytopenia, Petechiae, Neutropenia, Anemia OMIM:616216
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Patent ductus arteriosus, Hepatic fibrosis, Hepatomegaly, Panc... OMIM:606003
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Developmental cataract, Pure r... ORPHA:124
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Pallor, Diffuse pancreatic islet hyperplasia ORPHA:276580
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Aplastic anemia, Pallor ORPHA:447
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Immunodeficiency 46
Conjunctivitis, Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Keratitis, Punctate keratitis, Short stature, Anemia OMIM:226670
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Acute pancreatitis, Hepatomegaly, Ja... ORPHA:20
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Hydrocephalus, Neutropenia, Hepatomegaly, Pancyt... ORPHA:398124
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Reticular Dysgenesis
Abnormality of neutrophils, Anemia, Skin ulcer, Leukopenia ORPHA:33355
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor, Growth delay, Anemia ORPHA:329971
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Thrombocytopenia, Anemia, Leukopenia, Pancreatitis, Macrocytic anemia ORPHA:27
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Waldenstr├Âm Macroglobulinemia
Purpura, Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Leukemia, Pallor ORPHA:33226
Gaucher Disease, Type Ii
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Retinitis Pigmentosa 73
Pallor OMIM:616544
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Wolman Disease
Bone-marrow foam cells, Growth delay, Hepatomegaly, Splenomegaly, Anemia, Hepatic failure ORPHA:75233
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Neonatal death, Decreased liver function, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Neonatal death, Decreased liver function, Anemia OMIM:618839
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Neutropenia, Anemia, Intrauterine growth retardation OMIM:617056
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Fanconi Anemia, Complementation Group E
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Short stat... OMIM:600901
Omenn Syndrome
Severe B lymphocytopenia, Hepatomegaly, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytop... OMIM:603554
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Fanconi Anemia, Complementation Group A
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Short stat... OMIM:227650
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Ectopia lentis, Anemia ORPHA:2325
Fanconi Anemia, Complementation Group C
Anemic pallor, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Short stat... OMIM:227645
Senior-Loken Syndrome 1
Anemia OMIM:266900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Petechiae, Anemia of inadequate production, Acanthocytosis, Poikiloc... OMIM:300367
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Cholelithiasis, Normocytic anemia, Jaundice, Normo... OMIM:222800
Cinca Syndrome
Leukocytosis, Growth delay, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Prolidase Deficiency
Hepatomegaly, Thrombocytopenia, Prolonged neonatal jaundice, Splenomegaly, Petechiae, Anemia, Ele... OMIM:170100
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Beta-Ketothiolase Deficiency
Hepatomegaly, Thrombocytosis, Pallor, Leukocytosis ORPHA:134
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Short stature, Leukopenia OMIM:619151
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Pancytopenia, Aplastic anemia, Anemia OMIM:614742
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Primary congenital glaucoma, Congeni... OMIM:105650
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Short stature, Neutropenia, Anemia OMIM:617243
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Nevus Comedonicus Syndrome
Cataract, Spina bifida, Spina bifida occulta ORPHA:64754
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pallor, Increased hepatic glycogen content, Pancreat... ORPHA:263455
Fanconi Anemia, Complementation Group D2
Anemic pallor, Patent ductus arteriosus, Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocyt... OMIM:227646
Pituitary Apoplexy
Mydriasis, Normochromic anemia, Pallor ORPHA:95613
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Thrombocytopenia, Chronic hepatitis,... ORPHA:3260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Patent ductus arteriosus, Neutropen... OMIM:612541
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Hepatomegaly, Anemia, Splenomegaly, Eosinophilia, D... ORPHA:39041
Incontinentia Pigmenti
Leukocytosis, Erythema, Cataract, Keratitis, Short stature, Pallor, Eosinophilia OMIM:308300
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Elevated hepatic transaminase, Purpura, Neutropenia, Hepatomegaly, Jaundice, Th... ORPHA:540
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Ecchymosis ORPHA:88
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor OMIM:616307
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormality of the pancreas, Anemia, Neutrophilia, Liver abscess ORPHA:54251
Stormorken Syndrome
Thrombocytopenia, Asplenia, Short stature, Anemia, Howell-Jolly bodies OMIM:185070
Normochromic anemia, Pallor ORPHA:95512
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Ne... OMIM:260400
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Hepatom... ORPHA:100026
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Cholestasis, Hepatitis, Cholestatic liver disease, Anemia, Short s... ORPHA:440713
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Anemia OMIM:618838
Familial Benign Copper Deficiency
Short stature, Anemia ORPHA:1551
Frontal Encephalocele
Spina bifida, Hydrocephalus ORPHA:1931
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Bazex Syndrome
Scaling skin, Anemia ORPHA:166113
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver functi... OMIM:615486
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hepatomegaly, Anemia, Splenomegaly, Pallor, Hydrocephalus ORPHA:667
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Growth delay... ORPHA:264580
Normochromic anemia, Pallor ORPHA:95513
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida, Microcornea, Short stature ORPHA:1327
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Nephronophthisis 11
Hepatic fibrosis, Growth delay, Anisocoria, Anemia OMIM:613550
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Impaired neutrophil bactericida... OMIM:214500
Mirage Syndrome
Lymphopenia, Patent ductus arteriosus, Intrauterine growth retardation, Thrombocytopenia, Petechi... OMIM:617053
Gaucher Disease Type 1
Cirrhosis, Growth delay, Biliary tract obstruction, Hepatomegaly, Pancytopenia, Thrombocytopenia,... ORPHA:77259
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Short stature, Anemia, Intrauterine growth retardation, Abnormal leukocyte morp... ORPHA:3322
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Oslam Syndrome
Anemia OMIM:165660
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Hep... OMIM:304790
Sheehan Syndrome
Normochromic anemia, Pallor, Dry skin ORPHA:91355
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Rhizomelic arm shortening, Reticulocytopenia, Thrombocytopenia, Catarac... ORPHA:508542
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Umbilical hernia, Short stature, Anemia, Communicating h... ORPHA:2268
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Dravet Syndrome
Pallor ORPHA:33069
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Neoplasm of the pancreas, Abnormality of the peritoneum, Anemia ORPHA:83469
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Anemia, Erythema OMIM:608068
Diamond-Blackfan Anemia 10
Growth delay, Patent ductus arteriosus, Reticulocytopenia, Short stature, Anemia, Macrocytic anemia OMIM:613309
Retinitis Pigmentosa 75
Mixed astigmatism, Pallor OMIM:617023
Retinitis Pigmentosa 51
Pallor OMIM:613464
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Pallor, Elevated hepatic transaminase ORPHA:348
Gaucher Disease, Type I
Hepatomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Corneal scarring, Cataract, Conjunctivitis, Anemia OMIM:226600
Methylmalonic Aciduria, Cblb Type
Neutropenia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:251110
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly ORPHA:2476
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Hepatomegaly, Thrombocytopenia, Conjunctivitis, Anemi... OMIM:617591
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma ORPHA:1104
Amish Lethal Microcephaly
Hepatomegaly, Spina bifida ORPHA:99742
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Pelvis-Shoulder Dysplasia
Spina bifida, Mesomelic/rhizomelic limb shortening, Retinal coloboma, Iris coloboma, Hydranenceph... ORPHA:2839
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis OMIM:616457
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Chorioretinal coloboma, Growth delay, Cervical spina bifida, Postnatal growth retardation OMIM:600122
Myopathy, Mitochondrial, And Ataxia
Growth delay, Pallor, Short stature OMIM:617675
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Hepatomegaly, Megalocornea, Pallor, Hydrocephalus ORPHA:137675
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Thrombocytopenia, Pancreatitis, Pallor ORPHA:544482
Von Hippel-Lindau Disease
Pancreatic cysts, Polycythemia, Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma ORPHA:892
Mosaic Trisomy 9
Spina bifida, Patent ductus arteriosus, Corneal opacity, Abnormal liver lobulation, Asplenia, Int... ORPHA:99776
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Fountain Syndrome
Spina bifida, Short stature, Spina bifida occulta, Erythema ORPHA:3219
Hydatidiform Mole
Anemia ORPHA:99927
Tangier Disease
Corneal opacity, Thrombocytopenia, Anemia, Hepatosplenomegaly, Dry skin ORPHA:31150
Fanconi Anemia
Spina bifida, Hydrocephalus, Growth delay, Pyridoxine-responsive sideroblastic anemia, Aplasia/Hy... ORPHA:84
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Hepatosplenomegaly, Short stature, Anemia OMIM:259730
Toxic Epidermal Necrolysis
Elevated hepatic transaminase, Corneal erosion, Acute hepatic failure, Neutropenia, Erythema, Thr... ORPHA:537
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Caudal Duplication
Spina bifida, Myelomeningocele ORPHA:1756
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Coloboma, Cataract, Megalocornea, Opacification of the corneal stroma, Pallor, Hydro... OMIM:253280
Focal Dermal Hypoplasia
Chorioretinal coloboma, Spina bifida, Acute hepatic failure, Corneal opacity, Iris coloboma, Eryt... ORPHA:2092
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Nephronophthisis 4
Growth delay, Anemia OMIM:606966
Lysinuric Protein Intolerance
Hemophagocytosis, Cutis laxa, Hepatomegaly, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, P... OMIM:222700
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Leukocytosis, Pancreatic cysts, Thrombocytopenia, Anemia, Short stature, Hepatosple... OMIM:274000
Trisomy 18
Spina bifida, Cyclopia, Holoprosencephaly, Growth delay, Iris coloboma, Anencephaly, Cataract, Mi... ORPHA:3380
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Pallor ORPHA:29072
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Schisis Association
Spina bifida, Anencephaly ORPHA:63862
Tay-Sachs Disease
Pallor OMIM:272800
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Spina bifida, Proportionate short stature, Iris coloboma, Cataract, Dry skin OMIM:234100
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Neutropenia, Hepatic hemangioma, Thr... ORPHA:2330
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Jacobsen Syndrome
Spina bifida, Growth delay, Iris coloboma, Thrombocytopenia, Cataract, Microcornea, Short stature... ORPHA:2308
Waardenburg Syndrome Type 1
Meningocele, Spina bifida, Heterochromia iridis ORPHA:894
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus OMIM:207950
Nail-Patella Syndrome
Keratoconus, Spina bifida, Microphakia, Cataract, Microcornea, Short stature, Antecubital pterygi... OMIM:161200
Fibular Hemimelia
Thrombocytopenia, Abnormal anterior chamber morphology, Spina bifida ORPHA:93323
Osteopetrosis, Autosomal Recessive 7
Growth delay, Hepatomegaly, Anemia, Splenomegaly, Hydrocephalus OMIM:612301
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Cataract, ... ORPHA:247598
Delayed puberty, Pallor ORPHA:2965
Rare Circulatory System Disease
Pallor ORPHA:98028
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Thrombocytosis, Elevated hepatic transaminase, Hemobilia,... ORPHA:88673
Childhood Absence Epilepsy
Pallor ORPHA:64280
Anemia, Congenital Dyserythropoietic, Type Iii
Jaundice, Congenital hypoplastic anemia, Macrocytic anemia, Anemia of inadequate production OMIM:105600
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Pallor, Neoplasm of the liver ORPHA:653
22Q11.2 Deletion Syndrome
Spina bifida, Purpura, Arrhinencephaly, Posterior embryotoxon, Patent ductus arteriosus, Cholelit... ORPHA:567
Czeizel-Losonci Syndrome
Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta ORPHA:2437
Neu-Laxova Syndrome
Spina bifida, Cataract, Pterygium, Intrauterine growth retardation, Lack of skin elasticity ORPHA:2671
Alternating Hemiplegia Of Childhood
Mydriasis, Pallor ORPHA:2131
Kenny-Caffey Syndrome, Type 2
Severe short stature, Developmental cataract, Short stature, Anemia OMIM:127000
Limb Body Wall Complex
Spina bifida, Short umbilical cord, Hydrocephalus, Iris coloboma, Corneal opacity, Anencephaly, L... ORPHA:2369
Esophageal Atresia
Growth delay, Pallor, Coloboma ORPHA:1199
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Patent ductus arteriosus ORPHA:1120
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Myelomeningocele ORPHA:63260
Cerebrocostomandibular Syndrome
Spina bifida, Meningocele, Hydranencephaly, Short stature, Intrauterine growth retardation, Myelo... ORPHA:1393
Vacterl With Hydrocephalus
Spina bifida, Arrhinencephaly, Aqueductal stenosis, Microcornea, Intrauterine growth retardation,... ORPHA:3412
Waardenburg Syndrome, Type 1
Spina bifida, Heterochromia iridis, Hypoplastic iris stroma, Myelomeningocele, Blue irides OMIM:193500
Neu-Laxova Syndrome 1
Spina bifida, Short umbilical cord, Stillbirth, Patent ductus arteriosus, Cataract, Pterygium, Hy... OMIM:256520
Basal Cell Nevus Syndrome
Cataract, Spina bifida, Iris coloboma, Hydrocephalus OMIM:109400
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Trisomy 20P
Spina bifida, Umbilical hernia ORPHA:261318
Pagod Syndrome
Meningocele, Abnormality of the spleen, Spina bifida, Short stature ORPHA:991
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida, Coloboma, Exocrine pancreatic insufficiency, Retinal coloboma, Iris coloboma, Short... ORPHA:508498
Spina bifida, Rhizomelia, Holoprosencephaly, Spinal dysraphism, Anencephaly, Myelomeningocele, Hy... ORPHA:63259
Spina bifida, Sirenomelia ORPHA:3169
Aicardi Syndrome
Cataract, Spina bifida, Postnatal growth retardation, Hepatoblastoma OMIM:304050
Posterior Meningocele
Neural tube defect, Meningocele, Occipital meningocele, Lipomyelomeningocele, Hydrocephalus ORPHA:268810
Lumbar Syndrome
Spina bifida, Myelomeningocele ORPHA:83628
Schinzel-Giedion Syndrome
Myeloid leukemia, Annular pancreas, Umbilical hernia, Neural tube defect, Hepatoblastoma ORPHA:798
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Developmental cataract, Spina bifida, Postnatal growth retardation ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Developmental cataract, Spina bifida, Postnatal growth retardation ORPHA:363958
Neurofibromatosis, Type I
Lisch nodules, Spina bifida, Aqueductal stenosis, Short stature, Hydrocephalus OMIM:162200
Cloacal Exstrophy
Spina bifida, Myelomeningocele ORPHA:93929
Semilobar Holoprosencephaly
Cyclopia, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:220386
Alobar Holoprosencephaly
Cyclopia, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Cyclopia, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93926
Lobar Holoprosencephaly
Cyclopia, Growth delay, Neural tube defect, Short stature, Hydrocephalus ORPHA:93924
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor, Patent ductus arteriosus ORPHA:99125
Vater/Vacterl Association
Spina bifida, Patent ductus arteriosus, Postnatal growth retardation, Patent urachus, Intrauterin... OMIM:192350
Split Cord Malformation
Cervical spina bifida, Penetrating foot ulcers, Meningocele, Lipomyelomeningocele, Myelomeningoce... ORPHA:573278
Exstrophy-Epispadias Complex
Spina bifida, Hydrocephalus ORPHA:322


Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Brd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Brd1.

No publications found that use IMPC mice or data for Brd1.

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MGI Allele Allele Type Produced
Brd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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