Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
E2F transcription factor 4
Synonyms:
2010111M04Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by E2f4 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 E2f4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 31C
Lymphopenia, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Autoimmune hemo... OMIM:614162
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Anemia, Sepsis, Leukopenia, Dehydration, Chronic oti... ORPHA:33355
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Pallor, Short stature, Poiki... OMIM:615631
Isolated Agammaglobulinemia
Malabsorption, Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Abnormality o... ORPHA:229717
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Splenomegaly, Diffuse alveolar hemorrhage, Villous atrophy, Pancytopenia, Anemia, ... OMIM:616050
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Recurrent skin infections, Increased propor... OMIM:301082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc... OMIM:601457
Leishmaniasis
Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Weight loss, ... ORPHA:507
Felty Syndrome
Sinusitis, Splenomegaly, Anemia, Sepsis, Recurrent urinary tract infections, Chronic otitis media... ORPHA:47612
Cernunnos-Xlf Deficiency
Growth delay, Bulbous nose, Convex nasal ridge, Lymphopenia, Recurrent bacterial infections, B ly... ORPHA:169079
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Eosinophilic Gastroenteritis
Asthma, Malabsorption, Leukocytosis, Steatorrhea, Atopic dermatitis, Eosinophilia, Abnormality of... ORPHA:2070
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent sinopulm... ORPHA:486
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Asthma, Sinusitis, Recurrent upper and lower respiratory tract infections, Otitis media, Atopic d... ORPHA:70593
Alpha-Heavy Chain Disease
Malabsorption, Splenomegaly, Abnormality of the small intestine, Anemia, Lymphadenopathy, Prematu... ORPHA:100025
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Thrombocytosis, Chronic infect... ORPHA:86841
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Short stature, Recurrent bacterial infections, Neutrop... OMIM:616022
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Pallor, Splenomegaly ORPHA:46532
Refractory Celiac Disease
Malabsorption, Increased proportion of HLA DR+ T cells, Normocytic anemia, Iron deficiency anemia... ORPHA:398063
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Growth delay, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Hyp... OMIM:606367
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Skin ulcer ORPHA:217390
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Skin... ORPHA:443811
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomac... ORPHA:331235
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hypothyroidis... OMIM:304790
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Sinusitis, Osteomyelitis, Malabsorption, Skin rash, Recurrent ski... ORPHA:33110
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Neonatal respiratory distress, Cough, Chronic rhinitis, Recurrent sinusitis... OMIM:612444
Necrobiosis Lipoidica
Telangiectasia of the skin, Abnormality of the thyroid gland, Abnormality of neutrophil physiolog... ORPHA:542592
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Colitis, Hepatosplenomegaly, Sterile abscess, Thrombocytosis, Microcytic anemia, Pancytopenia, Py... OMIM:604416
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Retrognathia, Anisocytosis, Micrognathia, Prominent nasal bridge OMIM:604273
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Intestinal atresia, ... OMIM:243150
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Failure to thrive, Asthma, Skin rash, Splenomegaly, Steatorrhea,... OMIM:612714
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Depressed nasal bridge, Anisocytosis, Chronic infection, Skin ... ORPHA:231226
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:294
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Immunodeficiency 61
Malabsorption, Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, R... OMIM:300310
Primary Ciliary Dyskinesia
Airway obstruction, Female infertility, Chronic sinusitis, Polysplenia, Respiratory failure, Whee... ORPHA:244
X-Linked Agammaglobulinemia
Malabsorption, Glossoptosis, Abnormality of the lymphatic system, Abnormality of the tonsils, Neu... ORPHA:47
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Ciliary Dyskinesia, Primary, 26
Infertility, Respiratory insufficiency due to defective ciliary clearance, Reduced sperm motility... OMIM:615500
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Short stature, Splenomega... OMIM:613673
Takayasu Arteritis
Hypertrophic cardiomyopathy, Vasculitis, Cerebral ischemia, Myocardial infarction, Hypertensive c... ORPHA:3287
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Short stature, Abnormal ce... OMIM:612650
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Mild postnatal growth retardation, Small for gestational age, Sp... OMIM:224120
Immunodeficiency 23
High palate, Eczema, Erythema, Severe varicella zoster infection, Persistent EBV viremia, Recurre... OMIM:615816
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abnormal lymphatic vessel morpholo... ORPHA:90362
Immunodeficiency, Common Variable, 8, With Autoimmunity
Colitis, Splenomegaly, Atrophic gastritis, Autoimmune thrombocytopenia, B lymphocytopenia, Inflam... OMIM:614700
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Ciliary Dyskinesia, Primary, 22
Infertility, Respiratory insufficiency due to defective ciliary clearance, Reduced sperm motility... OMIM:615444
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Failure to thrive, Anemia, Respiratory insufficiency ORPHA:28
Classic Mycosis Fungoides
Splenomegaly, Erythema, Dry skin, Skin plaque, Skin ulcer, Abnormal lymphocyte morphology, Lympha... ORPHA:2584
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Pallor, Hypogonadotropic hypogonadism, Hypertr... ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells
Splenomegaly, Pallor, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Cholecystiti... OMIM:266200
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis, Male infertili... OMIM:614935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Recurrent infections, Pneumonia, A... OMIM:614069
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Absent outer dynein... OMIM:614874
Imerslund-Gräsbeck Syndrome
Failure to thrive, Megaloblastic anemia, Neutropenia, Hypersegmentation of neutrophil nuclei, Pal... ORPHA:35858
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hypoparathyro... ORPHA:231222
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Pallor, Hemolytic anemia, Dyspnea ORPHA:228312
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Infertility, Chronic otitis media, Cough, Chronic sinusitis, Neona... OMIM:618063
Netherton Syndrome
Failure to thrive, Asthma, Intestinal atresia, Hypernatremic dehydration, Allergic rhinitis, Angi... OMIM:256500
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Persistence... OMIM:259710
Chronic Granulomatous Disease
Macule, Malabsorption, Hypermelanotic macule, Splenomegaly, Tracheoesophageal fistula, Mediastina... ORPHA:379
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Short stature, Abnormal central microtubular pair morphology of respirato... OMIM:612649
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
High palate, Failure to thrive, Hypochromic anemia, Pallor, Micrognathia, Pappenheimer bodies, Mi... OMIM:600462
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Short stature, Pallor, Anisocytosis, Poikilocytosis, A... ORPHA:98870
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, ... OMIM:611590
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Specific Granule Deficiency 2
Failure to thrive, Abnormal pinna morphology, Neutropenia, Anemia, Sepsis, Recurrent bacterial in... OMIM:617475
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Micrognathia, Short nose, Delayed puberty, Anemia ORPHA:2598
Ciliary Dyskinesia, Primary, 33
Conductive hearing impairment, Cough, Chronic rhinitis, Recurrent lower respiratory tract infecti... OMIM:616726
Prolidase Deficiency
High palate, Petechiae, Diffuse telangiectasia, Splenomegaly, Depressed nasal bridge, Short nose,... OMIM:170100
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis ORPHA:26137
17Q21.31 Microduplication Syndrome
High palate, Failure to thrive, Micrognathia, Short nose, Delayed puberty, Anteverted nares, Abno... ORPHA:217340
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Depressed nasal bridge, Aniso... ORPHA:231214
Ciliary Dyskinesia, Primary, 28
Dynein arm defect of respiratory motile cilia, Respiratory insufficiency due to defective ciliary... OMIM:615505
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Pancreatitis, Splenomegaly, Dehydration, Neutropenia, An... ORPHA:79312
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Absent central microtubular pair morphology of respiratory motile cilia, Neonatal... OMIM:617091
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:612126
Ciliary Dyskinesia, Primary, 27
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Recu... OMIM:615504
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Chro... OMIM:244400
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis ORPHA:33574
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... OMIM:618801
Folate Malabsorption, Hereditary
Malabsorption, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Reduced sperm motility, Neonatal re... OMIM:608647
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma ... OMIM:616576
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Chron... ORPHA:75564
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Recurrent upper respiratory tract infections, Villous atrophy, Neutropenia OMIM:209920
Ollier Disease
Precocious puberty, Lymphangioma, Subcutaneous nodule, Skin ulcer, Anemia ORPHA:296
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... ORPHA:71275
Diarrhea 9
Villous atrophy OMIM:618168
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions OMIM:619445
Ciliary Dyskinesia, Primary, 23
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Chro... OMIM:615451
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Pustule, Dehydration, Recurrent pneumonia, Edema, Recurrent bronchiolitis OMIM:616069
Thrombotic Thrombocytopenic Purpura
Dyspnea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia ORPHA:54057
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Skin ulcer, Recurrent intrapulmonary hemorrhage, Arrhythmia, ... ORPHA:906
Dermotrichic Syndrome
Depressed nasal bridge, Short nose, Macrotia, Proportionate short stature, Anemia, Aganglionic me... ORPHA:99688
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Cleft palate, Microt... ORPHA:79113
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Short stature, Rhinitis, Splenomegaly ORPHA:93476
Degcags Syndrome
High palate, Hiatus hernia, Pyloric stenosis, Short nose, Pneumonia, Pancytopenia, Rhinitis, Intr... OMIM:619488
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... OMIM:614372
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Malabsorption, Neutropenia, Sideroblastic anemia, Steatorrhea, Pallor, Pancre... OMIM:557000
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia OMIM:613502
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocytopenia OMIM:611490
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Dermatitis, Atopic
Asthma, Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, ... OMIM:603165
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Retrograde ejaculation, Vertigo, Dyspnea, Anemia, Rhinitis ORPHA:230
Ciliary Dyskinesia, Primary, 24
Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Hereditary Spherocytosis
Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous h... ORPHA:822
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Short stature, Macrocytic anemia, Short nose, Neutropenia, Gro... OMIM:612563
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, D... OMIM:617241
Immunodeficiency 58
Onychomycosis, Eczema, Helicobacter pylori infection, Colitis, Esophagitis, Cutaneous abscess, Re... OMIM:618131
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Leukopenia, Respiratory insufficiency, Dehydration, Macrocytic anemia, Anemia, Thro... ORPHA:27
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Pulmonary emb... ORPHA:464343
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Lujo Hemorrhagic Fever
Respiratory distress, Odynophagia, Facial edema, Maculopapular exanthema, Myocarditis, Severe vir... ORPHA:319213
H Syndrome
Histiocytosis, Amenorrhea, Malabsorption, Short stature, Upper eyelid edema, Hepatosplenomegaly, ... ORPHA:168569
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Short stature, Micrognathia, Low-set, posteriorly rotated ears, Short nose, Antever... ORPHA:2015
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... ORPHA:391487
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Esophageal varix, Type I diabetes mellitus, Pancytopenia, Bone marrow hypocellularity, Skin ulcer... OMIM:615688
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... OMIM:616860
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Alg12-Cdg
Sensorineural hearing impairment, Failure to thrive, Abnormal pinna morphology, Intrauterine grow... ORPHA:79324
Pyoderma Gangrenosum
Myeloid leukemia, Papule, Inflammation of the large intestine, Atrophic scars, Skin ulcer, Skin v... ORPHA:48104
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Inflammation of the large intestine, Erythematous pl... ORPHA:3243
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis, Gout OMIM:232800
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Depressed nasal ridge, Retrognathia, Micro... ORPHA:1832
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Syndromic Diarrhea
Colitis, Lymphopenia, Hepatoblastoma, Gastritis, Splenomegaly, Hypoplasia of the thymus, Dry skin... ORPHA:84064
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Papule, Aplasia/Hypoplasia of the skin, Subcutaneous n... ORPHA:2028
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pallor, Hydrops fetalis, Pericarditis, Polyhydramnios, Anemia,... ORPHA:163596
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis, R... OMIM:612840
Propionic Acidemia
Failure to thrive, Apnea, Neutropenia, Pancreatitis, Short stature, Eczema, Dehydration, Tachypne... OMIM:606054
X-Linked Sideroblastic Anemia
Pallor, Dyspnea, Anemia, Splenomegaly ORPHA:75563
Chilblain Lupus
Skin ulcer, Chronic myelomonocytic leukemia, Erythematous papule, Raynaud phenomenon ORPHA:90280
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Recurrent upper and lower respiratory tract infections, Recurrent fungal infec... ORPHA:331206
Omenn Syndrome
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... OMIM:603554
Congenital Atransferrinemia
Anemia, Recurrent infections, Arthritis ORPHA:1195
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Congenital Disorder Of Glycosylation, Type Id
High palate, Bulbous nose, Depressed nasal bridge, Bifid uvula, Villous atrophy, Wide nasal bridge OMIM:601110
Deafness-Lymphedema-Leukemia Syndrome
Sensorineural hearing impairment, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder... ORPHA:3226
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... ORPHA:424019
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia OMIM:300653
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Infertility, Azoospermia, Cough, Chronic rhinitis... OMIM:618300
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sin... OMIM:614017
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Bulbous nose, Micrognathia, Leukopenia, Dehydration, Polyhydramnios, Rhizom... OMIM:616271
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Hemolytic anemia, Ileal ulcer, Thrombocytopenia OMIM:616744
Toxic Epidermal Necrolysis
Macule, Malabsorption, Tracheoesophageal fistula, Sudden cardiac death, Erythema, Dysphagia, Inte... ORPHA:537
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Recurrent bronchitis, Chronic sinusitis, Recur... OMIM:612692
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent bronchiolitis... OMIM:619164
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Recurrent bacterial infection... OMIM:607594
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Megaloblastic anemia, Short stature, Pallor, Thrombocytopenia ORPHA:49827
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Hepatocellular carcinoma, Thromb... ORPHA:158057
Dyskeratosis Congenita
Telangiectasia of the skin, Tracheoesophageal fistula, Bone marrow hypocellularity, Anorectal ano... ORPHA:1775
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Growth delay, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Ec... OMIM:243700
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Glossitis, Pneumonia, Weight loss, R... ORPHA:2552
Cerebrooculofacioskeletal Syndrome 1
Sensorineural hearing impairment, Failure to thrive, Abnormality of the ear, Small for gestationa... OMIM:214150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomeg... OMIM:618278
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Recu... ORPHA:183675
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Lymphopenia, Cryptorchidism, Cleft palate, Splenomegaly, Pulmonic stenosis, Mitral r... OMIM:612541
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill... ORPHA:95427
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Dend Syndrome
Thickened ears, Elevated hemoglobin A1c, Dehydration, Short nose, Anteverted nares ORPHA:79134
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Hereditary Folate Malabsorption
Failure to thrive, Cheilitis, Megaloblastic anemia, Gastroesophageal reflux, Pallor, Eosinophilia... ORPHA:90045
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia OMIM:218010
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Eczematoid dermatitis, Recurrent fungal infections, Persistence of primary teeth, Sk... OMIM:147060
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... OMIM:617092
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Colitis, Hemophagocytosis, Spl... OMIM:619802
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Immotile sperm, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respira... OMIM:242670
Osteootohepatoenteric Syndrome
Villous atrophy, Anemia, Ileoileal intussusception, Increased intestinal transit time OMIM:619377
Trichohepatoenteric Syndrome 2
Colitis, Depressed nasal bridge, Villous atrophy, Intrauterine growth retardation, Wide nasal bridge OMIM:614602
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Chronic rhinitis, Abnormal respiratory motile cilium morphology, R... OMIM:242680
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Recurrent sinusitis, Decreased proportion of class-switched memor... OMIM:613493
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Short stature, Abnormality of the outer ear, Morphological abnormal... OMIM:182290
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infections, Congenital agranulocytosi... OMIM:202700
Combined Oxidative Phosphorylation Deficiency 47
Sensorineural hearing impairment, Failure to thrive, Dehydration, Low-set, posteriorly rotated ea... OMIM:618958
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... OMIM:300400
Primary Myelofibrosis
Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly... ORPHA:824
Ciliary Dyskinesia, Primary, 37
Infertility, Wheezing, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Hearing impairment OMIM:617577
Orotic Aciduria
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... OMIM:258900
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Failure to thrive, Anal atresia, Malabsorption, Short stature, ... ORPHA:2315
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Splenomegaly, Pallor, Increased red cell hemolysis by shear stress, Increased mean corpuscular he... OMIM:194380
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Depressed nasal bridge, Nonimmune hydrops fetalis, Short nose, Intra... OMIM:608013
Transient Neonatal Diabetes Mellitus
Failure to thrive, Macroglossia, Small for gestational age, Dehydration, Umbilical hernia, Hearin... ORPHA:99886
Hereditary Elliptocytosis
Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Ell... ORPHA:288
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Increased fecal calprotectin level, Cleft palate, Necrotizing enterocolitis, Cervica... OMIM:619573
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles,... OMIM:221300
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Meningitis, Absent circulating B cells, Recurrent pneumonia, Recu... OMIM:613500
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Perioral erythema, Villous atrophy, Perianal erythema OMIM:614328
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, Reticulocytosis,... OMIM:235700
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:618892
Cryoglobulinemic Vasculitis
Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Vasculitis, Gastrointestinal infarctions, P... ORPHA:91138
Yellow Nail Syndrome
Sinusitis, Rhinitis, Cough, Lymphedema, Biliary tract neoplasm, Bronchiectasis, Dyspnea, Pulmonar... ORPHA:662
Plummer-Vinson Syndrome
Cheilitis, Pallor, Esophageal web, Hypochromic microcytic anemia, Iron deficiency anemia, Geophag... ORPHA:54028
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Malabsorption, Macroglossia, Short stature, Depressed nasal bridge,... OMIM:242860
Ring Chromosome 8 Syndrome
Anteverted nares, Polyhydramnios, Short nose, Round ear ORPHA:1450
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Shigellosis
Splenic abscess, Acute colitis, Paralytic ileus, Leukocytosis, Peritonitis, Sepsis, Dehydration, ... ORPHA:810
Chronic Hiccup
Dehydration, Weight loss, Abnormal eating behavior ORPHA:396
Potocki-Shaffer Syndrome
Broad nasal tip, Depressed nasal tip, Micrognathia, Delayed puberty, Anemia, Prominent nasal brid... ORPHA:52022
Bleeding Disorder, Platelet-Type, 19
Anemia, Epistaxis, Macrothrombocytopenia, Menorrhagia OMIM:616176
Trichohepatoenteric Syndrome 1
Depressed nasal ridge, Splenomegaly, Pulmonic stenosis, Bifid uvula, Increased mean platelet volu... OMIM:222470
Sepsis In Premature Infants
Abnormal mucociliary clearance, Gastrointestinal dysmotility, Decreased body weight, Splenomegaly... ORPHA:90051
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract in... OMIM:613101
Livedoid Vasculopathy
Telangiectasia of the skin, Graves disease, Leukocytosis, Polycythemia, Macular purpura, Pancytop... ORPHA:542643
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Pancreatitis, Leukocytosis, Intussusception, Peritonitis, Dehydration, Schistocyto... ORPHA:90038
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Lichen Planopilaris
Papule, Skin ulcer, Abnormal intestine morphology, Hypopigmented skin patches, Dermal atrophy ORPHA:525
Whim Syndrome 1
Bronchiectasis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neu... OMIM:193670
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Mental Retardation, X-Linked 91
High palate, Obesity, Short nose OMIM:300577
Familial Cold Autoinflammatory Syndrome 3
Onychomycosis, Asthma, Erythema, Allergic rhinitis, Angioedema, Hashimoto thyroiditis, Recurrent ... OMIM:614468
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Protruding ear, Gastroesophageal reflux, Short stature, Micrognathia, Short nose, Recurrent pneum... ORPHA:1495
Autosomal Dominant Hyper-Ige Syndrome
Cleft palate, Craniosynostosis, Eosinophilia, Papule, Skin ulcer, Skin vesicle, Wide nasal bridge ORPHA:2314
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Gastroesophageal reflux, Mucosal telangiectasiae, Dysphagia, Skin ulc... ORPHA:220402
Infantile Myofibromatosis
Neoplasm of the pancreas, Tracheoesophageal fistula, Intestinal obstruction, Subcutaneous nodule,... ORPHA:2591
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... ORPHA:1959
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... OMIM:619824
Proprotein Convertase 1/3 Deficiency
Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary ameno... OMIM:600955
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Increased mean platelet volume, Pyloric stenosis, Intestinal pseudo-obstr... OMIM:300048
Immunodeficiency 104
Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly OMIM:608971
Blackfan-Diamond Anemia
High palate, Depressed nasal bridge, Nonimmune hydrops fetalis, Reticulocytopenia, Increased mean... ORPHA:124
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Erythrodontia, Splenomegaly, Anisocytosis, Seborrhoeic bleph... ORPHA:79277
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hypergonadotropic hypogonadism, Depressed nasal bridge, Hypothyroidism, Thrombocytos... OMIM:212065
Acquired Purpura Fulminans
Macule, Macular purpura, Intracranial hemorrhage, Erythematous macule, Shock, Internal hemorrhage... ORPHA:49566
Waldenström Macroglobulinemia
Malabsorption, Splenomegaly, Pallor, Respiratory insufficiency, Normocytic anemia, Abnormality of... ORPHA:33226
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Macule, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarci... ORPHA:2869
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Mirage Syndrome
Decreased body weight, Lymphopenia, Petechiae, Gastroesophageal reflux, Short stature, Aspiration... OMIM:617053
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Failure to thrive, Giant cell hepatitis, Small for gestational age, Micrognathia, D... OMIM:208085
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impai... OMIM:619313
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Short stature, Depressed nasal bridge, Micrognathia, Low-set, po... ORPHA:1695
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Postauricular pit, Colitis, Gastritis, Crohn's disease, Va... OMIM:619381
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Hurler Syndrome
Macroglossia, Splenomegaly, Short stature, Depressed nasal bridge, Wide nasal bridge, Anteverted ... ORPHA:93473
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Aggressive Systemic Mastocytosis
Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypo... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Microtia, Anemia, Micrognathia, Low-set, posteriorly rotated ears, Rhi... OMIM:611209
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... ORPHA:922
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature ORPHA:3319
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Thrombocytopenia, Intrauterine growth retardation, Increased nuchal tran... ORPHA:295
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Growth delay, Pallor, Hepatosplenomegaly, Anisopoikilocytosis,... ORPHA:300298
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, N... OMIM:616740
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Chronic sinusitis, Ciliar... OMIM:614679
Immunodeficiency 69
Failure to thrive, Leukocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pan... OMIM:618963
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Immunodeficiency 57 With Autoinflammation
Gastritis, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, Perianal ab... OMIM:618108
Polyarteritis Nodosa
Raynaud phenomenon, Abnormality of the gastrointestinal tract, Erythema, Subcutaneous nodule, Ski... ORPHA:767
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Depressed nasal ridge, Short stature ORPHA:1355
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Rectal ... ORPHA:436252
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis ORPHA:713
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... ORPHA:98826
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Failure to thrive, Short nose, Narrow nasal bridge OMIM:618379
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Hypoplastic nasal septum, Hypoplasia of the thymus, Preauricula... ORPHA:40366
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Steatorrhea, Villous atrophy, Protein-losing enteropathy, Lymphang... OMIM:602579
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Pancreatitis, Leukopenia, Dehydration, Tubulointerstitia... OMIM:251000
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive, Dehydration, Pancytopenia, Neutropenia, Anemia, Thromboc... OMIM:251110
Diabetes Mellitus, Transient Neonatal, 1
Dehydration, Intrauterine growth retardation, Severe failure to thrive OMIM:601410
Combined Oxidative Phosphorylation Deficiency 25
Short stature, Depressed nasal bridge, Short nose, Anteverted nares, Low-set ears, Wide nasal bridge OMIM:616430
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Chronic hemolytic anemia, Gi... OMIM:210250
Autosomal Recessive Malignant Osteopetrosis
Apnea, Splenomegaly, Otitis media, Anemia, Pallor, Delayed eruption of teeth, Chronic rhinitis, G... ORPHA:667
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Failure to thrive, Asthma, Eosinophilic microabscess formation in the esophagus, Gastroesophageal... ORPHA:411696
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchit... OMIM:240500
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Pyoderma gangrenosum OMIM:619986
Acrocephalopolydactyly
Hepatosplenomegaly, Short nose, Depressed nasal ridge, Microtia ORPHA:221054
Cystic Fibrosis
Reduced forced expiratory volume in one second, Failure to thrive, Asthma, Ileus, Recurrent bronc... OMIM:219700
Fanconi Anemia, Complementation Group G
Multiple cafe-au-lait spots, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Intrauterine growth retardation, Bulbous nose, Short stature, Micrognathia, Hearing ... OMIM:613604
Fumarase Deficiency
High palate, Failure to thrive, Pallor, Depressed nasal bridge, Polycythemia, Anteverted nares OMIM:606812
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Neonatal death, Hypothyroidism, Protein-losing enteropathy, Anemia, Thrombocytope... OMIM:608104
Bone Marrow Failure Syndrome 4
Low-set ears, Short stature, Eczema, Leukopenia, Dry skin, Rhizomelia, Anemia, Thrombocytopenia, ... OMIM:618116
Microvillus Inclusion Disease
Hypovolemia, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Dracunculiasis
Skin ulcer, Recurrent cutaneous abscess formation, Subcutaneous nodule ORPHA:231
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Palpebral edema, Rhinitis, Rhinorrhea ORPHA:157835
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Purpura, Neutropenia, Anemia, ... OMIM:604250
Adenylosuccinate Lyase Deficiency
Anteverted nares, Low-set ears, Short nose ORPHA:46
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive, Dehydration, Pancytopenia, Neutropenia, Anemia, Thromboc... OMIM:251100
Fatty Acyl-Coa Reductase 1 Deficiency
Short stature, Depressed nasal bridge, Short nose, Macrotia, Growth delay ORPHA:438178
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Isovaleric Acidemia
Dehydration, Leukopenia, Thrombocytopenia, Pancytopenia OMIM:243500
Diamond-Blackfan Anemia 10
Respiratory distress, Low-set ears, Conductive hearing impairment, Steroid-responsive anemia, Cle... OMIM:613309
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:612653
Poikiloderma With Neutropenia
Blepharitis, Neutropenia, Recurrent bronchopulmonary infections, Skin rash, Splenomegaly, Retrogn... OMIM:604173
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:619375
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly, Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Malabsorption, Gastroesophageal reflux, Dyspareunia, Xerostomia, Dysp... ORPHA:220393
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Lactase Deficiency, Congenital
Dehydration, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Convex nasal ridge, Abnormal reticulocyte morphology ORPHA:2522
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Nodular changes affecting the eyelids, Abnormality of the sublingual gla... ORPHA:79493
Wolcott-Rallison Syndrome
Decreased body weight, Lymphocytosis, Short stature, Dehydration, Iron deficiency anemia, Recurre... ORPHA:1667
Leukocyte Adhesion Deficiency, Type I
Skin ulcer, Rectal abscess, Leukocytosis OMIM:116920
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia, Gastroint... OMIM:175500
Ige Responsiveness, Atopic
Allergic rhinitis, Eczema, Asthma OMIM:147050
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Conductive hearing impairment, Recurrent bacterial infections, ... OMIM:610738
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Hypersplenism, Uveitis, Reticulocytosis, ... ORPHA:3261
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Depressed nasal ridge, Splenomegaly, Micrognathia, Respiratory insufficiency, Polyhydramnios, Ane... ORPHA:1046
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Skin rash, Recurrent bacterial infections, B lymphocytopenia, Periorbital edem... OMIM:618048
Majeed Syndrome
Anemia of inadequate production, Failure to thrive, Osteomyelitis, Inflammatory abnormality of th... OMIM:609628
Beta-Ketothiolase Deficiency
Oral aversion, Leukocytosis, Pallor, Dehydration, Tachypnea, Cough, Thrombocytosis, Edema, Weight... ORPHA:134
Tularemia
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Abnormal nasopharyngeal adenoid mo... ORPHA:3392
Aplasia Cutis Congenita
Skin ulcer, Calvarial skull defect, Aplasia cutis congenita over the scalp vertex, Congenital loc... ORPHA:1114
Scheie Syndrome
Sensorineural hearing impairment, Rhinitis, Splenomegaly ORPHA:93474
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Cleft palate, Recurrent upper respiratory tract infections, Short nose, Wide nose, P... OMIM:300209
Lamellar Ichthyosis
Abnormal helix morphology, Short stature, Lack of skin elasticity, Sepsis, Dehydration, Chronic o... ORPHA:313
Facial Paresis, Hereditary Congenital, 3
Sensorineural hearing impairment, Depressed nasal bridge, Micrognathia, Short nose, Dysphagia, An... OMIM:614744
Shwachman-Diamond Syndrome
Steatorrhea, Eczema, Sepsis, Aplastic anemia, Delayed eruption of teeth, Macrocytic anemia, Cario... ORPHA:811
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Malabsorption, Steatorrhea, Polycystic ovaries, Abnormality of the ad... ORPHA:2176
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly OMIM:182900
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Brachycephaly, Splenomegaly, Hepatosplenomegaly, Abnormality of the spleen, Spont... ORPHA:2072
Lig4 Syndrome
Telangiectasia of the skin, Malabsorption, Type II diabetes mellitus, Leukocytosis, Biparietal na... ORPHA:99812
Granulomatosis With Polyangiitis
Angina pectoris, Prostatitis, Recurrent intrapulmonary hemorrhage, Abnormality of the hypothalamu... ORPHA:900
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Depressed nasal ridge, Anemia, Respiratory insufficiency, Hearing abnormality,... ORPHA:1842
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Depressed nasal bridge, Short nose, Recurrent infections, Low-set ... OMIM:616910
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Broad nasal tip, Short nose, Obesity, Failure to thrive in infancy OMIM:613670
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Failure to thrive, Recurrent bacterial skin infections, Decreased proportion of naive T cells, Ch... ORPHA:276
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Anemic pallor... ORPHA:329971
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Maxillonasal Dysplasia, Binder Type
Large earlobe, Dental malocclusion, Depressed nasal bridge, Short nose, Short columella OMIM:155050
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Depressed nasal bridge, Short nose, Recurrent infections, Obesity OMIM:605309
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Inappropriate antidiuretic hormone secretion, Hepatosplenomegaly, Pulm... ORPHA:79124
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Neutropenia, Gastroeso... OMIM:608233
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, Recurrent tonsill... ORPHA:171876
Werner Syndrome
Telangiectasia of the skin, Type II diabetes mellitus, Ovarian neoplasm, Thyroid carcinoma, Conve... ORPHA:902
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular hyperplasia, He... OMIM:614470
Familial Cold Urticaria
Sensorineural hearing impairment, Polydipsia, Dehydration, Erythema, Arthritis, Conjunctivitis ORPHA:47045
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:949
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Abnormal intestine morphology, Shock, Neutropenia OMIM:600351
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Respiratory distress, Sepsis, Pneumonia, Skin ulcer, Rhinitis, Gastrointestinal inflam... ORPHA:95455
Acrogeria
Telangiectasia of the skin, Convex nasal ridge, Excessive wrinkled skin, Aplasia/Hypoplasia of th... ORPHA:2500
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Netherton Syndrome
Asthma, Malabsorption, Skin rash, Short stature, Eczema, Dehydration, Dry skin, Recurrent infecti... ORPHA:634
Retinohepatoendocrinologic Syndrome
Pallor, Infertility OMIM:268040
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Pallor, Hepatosplenomegaly, Crackles, Iron deficiency anemia, Cough, Restricti... ORPHA:99931
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Short stature, Thrombocytopenia, Decreased DLCO, Dyspnea, A... OMIM:607616
Rhiny
Anteverted nares, Short nose OMIM:180360
Immunodeficiency 36
Growth delay, Lymphopenia, Splenomegaly, Short stature, Recurrent bacterial infections, Recurrent... OMIM:616005
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Leukocytosis, Anemia, Pallor, Leukopenia, Dehydration, Tachypnea, Acute pancreatitis, Thro... ORPHA:20
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Polyhydramnios, Pancytopenia, Acute lymphoblas... OMIM:616873
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, P... ORPHA:86839
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Macroglossia, Increased body mass index, Delayed eruption of teeth, Dry skin, Incre... OMIM:614450
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Short stature ORPHA:2370
Gaucher Disease, Type Ii
Failure to thrive, Apnea, Splenomegaly, Recurrent aspiration pneumonia, Dysphagia, Anemia, Thromb... OMIM:230900
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, P... OMIM:307200
Neutrophilic Dermatosis, Acute Febrile
Erythema, Dilated cardiomyopathy, Anemia, Pyoderma gangrenosum, Small vessel vasculitis OMIM:608068
Letterer-Siwe Disease
Seborrheic dermatitis, Pallor, Hepatosplenomegaly, Stomatitis, Neutropenia, Dyspnea, Anemia, Thro... OMIM:246400
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185000
Scleroderma
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Tra... ORPHA:801
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Pallor, Hemolytic anemia, Dyspnea ORPHA:98375
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Recurrent gastroenteritis, Neutrophilia, Depressed nasal ridge, Depressed nasal bridge... ORPHA:99843
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Autoimmune thrombocytopenia, Purpura, Glomerulonephritis, Recurre... OMIM:613496
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Short stature, Small for gestational age OMIM:245570
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
14Q11.2 Microdeletion Syndrome
High palate, Depressed nasal bridge, Micrognathia, Low-set, posteriorly rotated ears, Short nose ORPHA:261120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Purpura, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:235400
Trichothiodystrophy 3, Photosensitive
Trigonocephaly, Lymphopenia, Pyloric stenosis, Neutropenia, Bilateral cryptorchidism, Intrauterin... OMIM:616395
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Icf Syndrome
Malabsorption, Lymphopenia, Macroglossia, Depressed nasal bridge, Abnormality of neutrophils, Pro... ORPHA:2268
Solitary Rectal Ulcer Syndrome
Stercoral ulcer, Hematochezia, Rectal prolapse, Anemia, Anal fissure ORPHA:209964
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Depressed nasal bridge, Xerostomia, Periorbital wrinkles, Dry skin, Rhinitis, Recurrent respirato... OMIM:614941
Rhabdoid Tumor
Neoplasm of the liver, Internal hemorrhage, Subcutaneous nodule, Hypertension, Anemia, Thrombocyt... ORPHA:69077
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Hypergon... ORPHA:90646
Immunodeficiency 70
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Hypothyroidism, Recu... OMIM:618849
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Free Sialic Acid Storage Disease
Skin ulcer, Splenomegaly ORPHA:834
Pierpont Syndrome
Large fleshy ears, Failure to thrive, Decreased body weight, Short stature, Broad nasal tip, Shor... OMIM:602342
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Erythema, Papule ORPHA:2337
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Pearson Syndrome
Growth delay, Neutropenia, Small for gestational age, Splenomegaly, Severe infection, Anemia, Ret... ORPHA:699
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Familial Benign Copper Deficiency
Anemia, Short stature, Wide nasal bridge, Acne ORPHA:1551
Esophageal Atresia
Respiratory distress, Abnormality of the ear, Oral aversion, Cleft palate, Tracheoesophageal fist... ORPHA:1199
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Malabsorption, Keratoconjuncti... OMIM:240300
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Epistaxis,... ORPHA:88
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Hypermelanotic macule, Lymphopenia, Broad nasal tip, Depressed nasal b... ORPHA:1830
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:603552
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombo... OMIM:274150
Chilblain Lupus 1
Skin ulcer, Raynaud phenomenon OMIM:610448
Wolman Disease
Adrenal insufficiency, Steatorrhea, Splenomegaly, Adrenal calcification, Esophageal varix, Anemia... ORPHA:75233
Agammaglobulinemia 9, Autosomal Recessive
Sensorineural hearing impairment, Failure to thrive, Eczematoid dermatitis, Recurrent bacterial i... OMIM:619693
Acute Promyelocytic Leukemia
Neutropenia, Petechiae, Leukocytosis, Metrorrhagia, Chronic infection, Anemia, Leukopenia, Stomat... ORPHA:520
Systemic Sclerosis
Myocarditis, Pericarditis, Abnormal large intestine morphology, Right ventricular failure, Syncop... ORPHA:90291
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract... OMIM:618699
Prolidase Deficiency
Depressed nasal ridge, Splenomegaly, Depressed nasal bridge, Erythema, Dry skin, Papule, Aplasia/... ORPHA:742
Peho-Like Syndrome
Retrognathia, Short nose, Edema OMIM:617507
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema, Subcutaneous nodule ORPHA:31112
Nephronophthisis
Anemia ORPHA:655
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Depressed nasal bridge, Hepatosplenomegaly, Short nose, Edema, Low-set ears, A... OMIM:608776
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Congenital Toxoplasmosis
Hearing impairment, Anemia, Thrombocytopenia, Intrauterine growth retardation, Failure to thrive ... ORPHA:858
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Hearing impairment, Mandibular prognathia, Anemia, Abnormal dental ena... ORPHA:2325
Cinca Syndrome
Skin rash, Leukocytosis, Anemia, Eosinophilia, Hepatosplenomegaly, Arthritis, Meningitis, Uveitis... OMIM:607115
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive ORPHA:79283
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Burn-Mckeown Syndrome
Short stature, Bilateral choanal atresia, Short nose, Prominent nasal bridge, Wide nasal bridge ORPHA:1200
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Harlequin Ichthyosis
Depressed nasal ridge, Dehydration, Respiratory insufficiency, Hearing abnormality, Erythroderma,... ORPHA:457
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Pneumonia, BCGosis, Pyoderma gangrenosum, Intrauterin... ORPHA:2968
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Vertigo,... OMIM:133100
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections, Autoimmune hemolytic anemia, Thrombocytopen... OMIM:612783
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections, Growth delay OMIM:615468
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... OMIM:617780
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Recurrent sinu... OMIM:601495
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Abnormality of the ear, Recurrent skin infections, Retrognathia, Broad nasal t... ORPHA:391372
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Retrognathia, Micrognathia, Apneic episodes in infancy, Short nose, Thick nas... ORPHA:163961
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Fat malabsorption, Steatorrhea ORPHA:309108
Kasabach-Merritt Syndrome
Respiratory distress, Petechiae, Hypopnea, Leukopenia, Reticulocytosis, Hepatic hemangioma, Purpu... ORPHA:2330
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Recessive Dystrophic Epidermolysis Bullosa Inversa
Localized skin lesion, Esophageal stricture, Milia, Atrophic scars, Anemia, Gastrointestinal infl... ORPHA:79409
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Cartilage-Hair Hypoplasia
Malabsorption, Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte... OMIM:250250
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Wide nasal bridge, Neutropenia OMIM:618067
Even-Plus Syndrome
High palate, Anal atresia, Severe short stature, Depressed nasal ridge, Microtia, Atopic dermatit... OMIM:616854
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Abnormality of the nares, Short nose... ORPHA:1248
Congenital Short Bowel Syndrome
Failure to thrive, Intestinal atresia, Steatorrhea, Intestinal malrotation, Dehydration, Abnormal... OMIM:615237
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Chondrodysplasia Punctata 1, X-Linked Recessive
Short stature, Depressed nasal bridge, Short nose, Hypogonadism, Hearing impairment, Short nasal ... OMIM:302950
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Chronic oral candidiasis, Splenomegaly, Chronic hepatitis, Sepsis, Sclerosing ... OMIM:308230
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Broad nasal tip, Depressed nasal bridge, B lymphocytopenia, Umbilical hernia, Recurrent viral inf... ORPHA:221139
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Recurrent fungal infections, ... OMIM:102700
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Short stature, Anemia, Eczema, Recurrent upper respiratory tract infections, Leukope... ORPHA:508542
American Trypanosomiasis
Skin rash, Splenomegaly, Pallor, Achalasia, Myocarditis, Cough, Infectious encephalitis, Periorbi... ORPHA:3386
Duodenal Neuroendocrine Tumor
Melena, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Palpitations, Paraga... ORPHA:100076
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Clark-Baraitser Syndrome
Large earlobe, High palate, Low hanging columella, Depressed nasal bridge, Short nose, Anteverted... OMIM:617752
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Pure red cell aplasia, Hypogonadism, Anemia OMIM:618165
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Penetrating foot ulcers, Gastroesophageal reflux ORPHA:36386
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cleft palate, Dolichocephaly, Hypoplasia of the thymus, Cryptorchidism, Turricephaly, Intrauterin... OMIM:214110
Trigonocephaly 1
Trigonocephaly, Craniosynostosis, Meckel diverticulum, Preauricular skin tag OMIM:190440
Cebalid Syndrome
High palate, Abnormal pinna morphology, Depressed nasal ridge, Depressed nasal bridge, Hearing im... OMIM:618774
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Abnormal pinna morphology, Short stature, Broad nasal tip, Short nose, Umbilical her... OMIM:613544
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Anemia, Hypergonadotropic hypogonadism, Anemic pallor, Sh... OMIM:227650
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Splenomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia ORPHA:567983
Rosaï-Dorfman Disease