Not currently registered for phenotyping at IMPC

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

Gene Summary

E2F transcription factor 4

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 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
Matching phenotypes Source
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Villous atrophy, Delayed puberty, Abnor... OMIM:614162
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Chronic otitis media, Weight loss, Hearing impairment, Deh... ORPHA:33355
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormality of the tonsils, Abnormal lymphocyte morphology, Pneumonia... ORPHA:229717
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe... ORPHA:572
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveo... OMIM:616050
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Growth delay, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia ... OMIM:615631
Felty Syndrome
Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutropenia, Weight loss, Anemia, Si... ORPHA:47612
Specific Granule Deficiency 2
Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Ab... OMIM:617475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Abnormal macrophage morphology, Weight loss, Pancytopenia, Thrombocytopenia, Splenomegaly, Rhinit... ORPHA:507
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Mil... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial infections, Short sta... OMIM:616022
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Recurrent viral infections, Pneumonia, Recurre... ORPHA:486
Eosinophilic Gastroenteritis
Allergic rhinitis, Atopic dermatitis, Hematochezia, Leukocytosis, Dysphagia, Abnormality of the g... ORPHA:2070
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Pulmonary infiltrates, Pulmonary interstitial lymphocyte inf... OMIM:606367
Cernunnos-Xlf Deficiency
Convex nasal ridge, T lymphocytopenia, Bulbous nose, Lymphopenia, Growth delay, Recurrent viral i... ORPHA:169079
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Abnormality of the small intestine, Malabsorption, Premature ovarian insuff... ORPHA:100025
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Recurrent upper and lower respiratory tract infections, Decreased proportion o... ORPHA:70593
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Recurrent sinusitis, Pneumonia, B lymphocytopen... ORPHA:217390
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia,... OMIM:613673
Autosomal Agammaglobulinemia
Skin rash, Osteomyelitis, Bronchiectasis, Cough, Chronic otitis media, Neutropenia, Meningitis, C... ORPHA:33110
Refractory Celiac Disease
Iron deficiency anemia, Microcytic anemia, Jejunitis, Villous atrophy, Increased proportion of HL... ORPHA:398063
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial... OMIM:613501
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Female infertility, Abnormal s... ORPHA:244
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Acute myeloid leukemia, An... ORPHA:86841
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Villous atrophy, N... OMIM:304790
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t... ORPHA:331235
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Abnormality of the tonsils, Neutropenia, Hypopigme... ORPHA:47
Necrobiosis Lipoidica
Indurated nodule, Annular cutaneous lesion, Atrophic scars, Skin plaque, Granuloma, Erythema, Tel... ORPHA:542592
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Pyoderma gangrenosum, Sterile abscess, ... OMIM:604416
Ciliary Dyskinesia, Primary, 26
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ... OMIM:615500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Pallor, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Growth delay, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Malabsorption, Arthritis, Recurrent ba... OMIM:300310
Takayasu Arteritis
Gastrointestinal infarctions, Subcutaneous nodule, Hypertensive crisis, Hypertension, Myocardial ... ORPHA:3287
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ... OMIM:615444
Dominant Beta-Thalassemia
Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin concentration, Persistence of h... ORPHA:231226
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Ciliary Dyskinesia, Primary, 19
Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, ... OMIM:614935
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Bloom Syndrome
Skin rash, Severe toxoplasmosis, Recurrent urinary tract infections, Pneumonia, Small for gestati... ORPHA:125
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Immunodeficiency 23
Bronchiectasis, Recurrent Staphylococcus aureus infections, Neutropenia, Erythema, Sensorineural ... OMIM:615816
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Carious teeth, Allergic rhinitis, Steatorrhea, Splenomegaly, Asthma, Anemia, Anemia of... OMIM:612714
Acute Myelomonocytic Leukemia
Dyspnea, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Growth delay, Pneumonia, Low-set ears, Recurrent infections, High palate, Retrognathi... OMIM:614069
Chronic Granulomatous Disease
Abnormality of neutrophils, Pyloric stenosis, Recurrent respiratory infections, Liver abscess, Ma... ORPHA:379
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absen... OMIM:614874
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Skin plaque, Erythema, Lymphadenopathy, Hypopigmented skin patche... ORPHA:2584
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Rec... OMIM:616576
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Hypothyroidism, Extramedullary hematopoiesis, Hepatoce... ORPHA:231222
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Anemia, Splenomegaly, Hypogonadotropic hypog... ORPHA:848
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Ciliary Dyskinesia, Primary, 38
Infertility, Bronchiectasis, Conductive hearing impairment, Cough, Absent inner and outer dynein ... OMIM:618063
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Recurren... OMIM:616726
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:612649
Fetal Cytomegalovirus Syndrome
Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:294
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Mandibu... OMIM:259710
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Netherton Syndrome
Allergic rhinitis, Villous atrophy, Hypereosinophilia, Abnormal intestine morphology, Intestinal ... OMIM:256500
Prolidase Deficiency
Recurrent pneumonia, Short nose, Concave nasal ridge, Diffuse telangiectasia, Thrombocytopenia, P... OMIM:170100
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Anemia, Failure to thrive, Respiratory insufficiency ORPHA:28
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Wide nasal bridge, H... OMIM:612541
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechiae, Splenomegaly OMIM:314050
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
17Q21.31 Microduplication Syndrome
Short nose, Abnormality of the outer ear, Delayed puberty, Failure to thrive, High palate, Microg... ORPHA:217340
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Immunodeficiency 51
Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Gastrointestinal Defects And Immunodeficiency Syndrome
Hematochezia, Autoimmune hemolytic anemia, Intestinal malrotation, Hypoplasia of the thymus, Intr... OMIM:243150
Bare Lymphocyte Syndrome, Type Ii
Recurrent upper respiratory tract infections, Villous atrophy, Neutropenia, Colitis, Recurrent lo... OMIM:209920
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Failure to thrive, Short stature, Decreased mean corpuscular v... OMIM:611590
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neutropenia, Sinusitis, C... OMIM:601495
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Bronchiectasis, Conductive hearing impairment, Ciliary dyskinesia, Nasal polyp... OMIM:244400
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si... OMIM:617091
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria... OMIM:310350
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia, Male infert... OMIM:618801
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Splenomegaly, Abnormal leukocyte morphology, Pallor ORPHA:228312
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Pappenheimer bodies, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Respiratory insufficiency, Atelectasis... OMIM:618278
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Delayed puberty, Anemia, High palate, Micrognathia ORPHA:2598
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Chronic rhinitis, Chronic sinusitis, Short st... OMIM:612650
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Midface retrusion, Decrease... OMIM:617241
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Melena, Anisocytosis, Anemia, Short stature, Increased mean corp... ORPHA:98870
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Short nose, Absent tragus, Overfolded helix, Large earlobe, Conduct... ORPHA:79113
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Facial erythema, Conjunctivitis, Asthma, Eczema, Recurrent ... OMIM:603165
Diarrhea 9
Villous atrophy OMIM:618168
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Neutropenia, Thrombocytopenia, Dehydration, Splenomegaly, Anemia, Failure t... ORPHA:79312
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent bronchiolitis, Dehydration, Edema, Failure to thrive, Recurrent pneumonia OMIM:616069
Immunodeficiency 58
Seborrheic dermatitis, Cutaneous abscess, Bronchiectasis, Helicobacter pylori infection, Scaling ... OMIM:618131
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Chronic sinusitis, Recurrent respirator... OMIM:613502
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Ciliary Dyskinesia, Primary, 24
Infertility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia OMIM:616744
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Delayed puberty, Pulmonary arterial hypertension, Autoimmune thrombo... ORPHA:391487
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Autoim... OMIM:608184
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Neutr... OMIM:150550
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Low-set, posteriorly rotated ears, Short stature, Cleft palate, Micrognathia, Antever... ORPHA:2015
Ollier Disease
Subcutaneous nodule, Anemia, Lymphangioma, Precocious puberty, Skin ulcer ORPHA:296
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Rhinitis, Short stature, Splenomegaly ORPHA:93476
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent urinary tract infections, Failure ... OMIM:618495
Dopamine Beta-Hydroxylase Deficiency
Vertigo, Dyspnea, Retrograde ejaculation, Dehydration, Rhinitis, Anemia ORPHA:230
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Dermotrichic Syndrome
Short nose, Frontal bossing, Aganglionic megacolon, Anemia, Depressed nasal bridge ORPHA:99688
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
H Syndrome
Azoospermia, Bronchiectasis, Microcytic anemia, Amenorrhea, Histiocytosis, Delayed puberty, Heari... ORPHA:168569
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Dyspnea ORPHA:54057
Maculopapular Cutaneous Mastocytosis
Dyspnea, Rhinitis, Cutaneous mastocytosis ORPHA:79457
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ... ORPHA:70592
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Gastrointestinal infarctions... ORPHA:464343
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Thrombocytopenia, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Sinusitis, Acute leukemia, Purpur... ORPHA:906
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Syndromic Diarrhea
Thrombocytosis, Aortic regurgitation, Hypothyroidism, Lymphopenia, Villous atrophy, Peripheral pu... ORPHA:84064
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Anemia, Leukopenia, Lymphadenopathy, Purpura, Portal hypertension, Urticarial plaqu... OMIM:615688
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Deafness-Lymphedema-Leukemia Syndrome
Vertigo, Leukocytosis, Lymphedema, Chronic otitis media, Recurrent respiratory infections, Weight... ORPHA:3226
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Dyspnea, Short nose, Respiratory distress, Poste... ORPHA:1832
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Recurrent... ORPHA:911
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Ciliary Dyskinesia, Primary, 40
Azoospermia, Infertility, Cough, Rhinitis OMIM:618300
Diamond-Blackfan Anemia 8
Short nose, Growth delay, Neutropenia, Wide nasal bridge, Short stature, Increased mean corpuscul... OMIM:612563
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Subcutaneous nodule, Aplasia/Hypoplasia of the skin, P... ORPHA:2028
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Atrophic scars, Papule, Skin vesicle, Skin... ORPHA:48104
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Thrombocytopenia, Dehydration, Pancreatitis, Anemia, Leukopenia, Macro... ORPHA:27
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Abnormal pleura morphology, Dysphagia, Neutr... ORPHA:537
Sweet Syndrome
Inflammation of the large intestine, Small vessel vasculitis, Dilated cardiomyopathy, Leukocytosi... ORPHA:3243
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Chilblain Lupus
Erythematous papule, Chronic myelomonocytic leukemia, Raynaud phenomenon, Skin ulcer ORPHA:90280
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Respiratory tract infection, Wheezing, Gastrointestinal obstruction, Respiratory distress, Dyspha... ORPHA:1549
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Congenital Disorder Of Glycosylation, Type Id
Bulbous nose, Villous atrophy, Wide nasal bridge, Bifid uvula, High palate, Depressed nasal bridge OMIM:601110
Neutropenia, Hypertension, Splenomegaly, Tachycardia, Anemia, Recurrent pneumonia OMIM:602079
Yellow Nail Syndrome
Biliary tract neoplasm, Pleuritis, Dyspnea, Bronchiectasis, Lymphedema, Cough, Rhinitis, Neoplasm... ORPHA:662
Hereditary Folate Malabsorption
Glossitis, Megaloblastic anemia, Gastroesophageal reflux, Recurrent urinary tract infections, Che... ORPHA:90045
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, A... ORPHA:331206
Dyskeratosis Congenita
Bone marrow hypocellularity, Anemia, Neoplasm of the pancreas, Telangiectasia of the skin, Thromb... ORPHA:1775
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Abnormality of the larynx, Mandibular prognathia, Ab... OMIM:182290
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Petechiae, Splenomegaly, Anemia, Recurrent... OMIM:612840
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Absent respiratory ciliary axoneme radial spokes, Ciliary... OMIM:242670
Agammaglobulinemia 2, Autosomal Recessive
Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia OMIM:613500
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Hyperinsulinemic hypoglycemia, Lymphangiectasis, Protein-losing enteropathy OMIM:602579
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Large fontanelles, Hypothyroidism, Protein-losing enteropathy, Thrombocytopenia, ... OMIM:608104
X-Linked Sideroblastic Anemia
Dyspnea, Pallor, Anemia, Splenomegaly ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona... OMIM:243700
Apolipoprotein A-I Deficiency
Xanthomatosis, Lymphadenopathy, Anemia, Splenomegaly ORPHA:425
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Anemia, Splenomegaly, Abnormal he... ORPHA:163596
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Central hypothyroidism, Aganglionic megacolon, Ste... ORPHA:95427
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose OMIM:218010
Trichohepatoenteric Syndrome 2
Intrauterine growth retardation, Villous atrophy, Wide nose, Colitis OMIM:614602
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent... OMIM:613179
Ciliary Dyskinesia With Excessively Long Cilia
Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ... OMIM:242680
Propionic Acidemia
Apnea, Tachypnea, Neutropenia, Pancytopenia, Thrombocytopenia, Dehydration, Anemia, Failure to th... OMIM:606054
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Colitis, Recurrent bronchiolitis, Splenomegaly, B lymphocytopenia... OMIM:619164
Glycogen Storage Disease Vii
Reticulocytosis, Gout, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:232800
Ciliary Dyskinesia, Primary, 37
Infertility, Wheezing, Bronchiectasis, Rhinorrhea, Hearing impairment, Chronic rhinitis OMIM:617577
Combined Oxidative Phosphorylation Deficiency 47
Dysphagia, Low-set, posteriorly rotated ears, Dehydration, Sensorineural hearing impairment, Fail... OMIM:618958
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Colitis, Thr... OMIM:613101
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Short nose, Bronchiectasis, Pneumonia, Reduced natural killer ce... OMIM:242860
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Hypopla... OMIM:300400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Acute colitis, Paralytic ileus, Microangiopathic hemolytic anemia, Intestinal perforation, Perito... ORPHA:810
Congenital Atransferrinemia
Recurrent infections, Anemia, Arthritis ORPHA:1195
Deafness, Conductive, With Malformed External Ear
Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormality of the pinna, ... OMIM:221300
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Skin rash, Recurrent upper and lower respiratory tract infect... ORPHA:275
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Recurrent fungal infections, Chronic otitis media, Rec... ORPHA:169090
Autosomal Dominant Hyper-Ige Syndrome
Craniosynostosis, Atelectasis, Wide nasal bridge, Skin ulcer, Cleft palate, Papule, Skin vesicle,... ORPHA:2314
Transient Neonatal Diabetes Mellitus
Macroglossia, Umbilical hernia, Hearing impairment, Dehydration, Small for gestational age, Failu... ORPHA:99886
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Splenomegaly, Nonimmune hydrops fetalis, Cholecystitis... OMIM:266200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia, Sensorineural hearing impairment, Short stature, Pallor ORPHA:49827
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Villous atrophy, Duodenitis, Perioral erythema OMIM:614328
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Leukopenia, Malabsorption OMIM:229050
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Infantile Myofibromatosis
Subcutaneous nodule, Neoplasm of the lung, Abnormal intestine morphology, Intestinal obstruction,... ORPHA:2591
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis, Dysphagia, Gastroesophageal reflux, Telangiectasia of the skin, Mucosal telan... ORPHA:220402
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Eczematoid de... OMIM:147060
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Purpura, Gastrointestinal infarctions, Petechiae, Splenomegaly, Medi... ORPHA:91138
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Recurrent otitis media, Hashimoto thyroiditis, Onychomycosis, Recurrent sinopu... OMIM:614468
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Recurrent pneumonia,... OMIM:607594
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Livedoid Vasculopathy
Graves disease, Ischemic stroke, Leukocytosis, Atrophic scars, Polycythemia, Erythematous papule,... ORPHA:542643
Hereditary Elliptocytosis
Hydrops fetalis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal eryt... ORPHA:288
Polyarteritis Nodosa
Abnormal lung morphology, Pleuritis, Pericarditis, Subcutaneous nodule, Abnormality of the gastro... ORPHA:767
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Increased mean platelet volume, Intestinal pseudo-obstruction, Thrombocyt... OMIM:300048
Mental Retardation, X-Linked 91
High palate, Short nose, Obesity OMIM:300577
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Anemia, Micrognathia, Depressed nasal bridge, Respiratory distress, Purpura, Thro... OMIM:608013
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Primary amenorrhea, Hypogonadotropic hypog... OMIM:600955
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Bronchiectasis, Reduced natural killer ce... OMIM:618108
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia OMIM:131400
Bone Marrow Failure Syndrome 4
Rhizomelia, Thrombocytopenia, Low-set ears, Anemia, Leukopenia, Short stature, Eczema, Recurrent ... OMIM:618116
Lichen Planopilaris
Dermal atrophy, Hypopigmented skin patches, Papule, Abnormal intestine morphology, Skin ulcer ORPHA:525
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Trichohepatoenteric Syndrome 1
Thrombocytosis, Frontal bossing, Aortic regurgitation, Villous atrophy, Increased mean platelet v... OMIM:222470
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimidin... OMIM:258900
Mirage Syndrome
Hypergonadotropic hypogonadism, Lymphopenia, Gastroesophageal reflux, Recurrent urinary tract inf... OMIM:617053
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Short nose, Underdeveloped nasal alae, Abnormality of the nares, Intra... ORPHA:2315
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Ring Chromosome 8 Syndrome
Polyhydramnios, Round ear, Anteverted nares, Short nose ORPHA:1450
Peutz-Jeghers Syndrome
Nasal polyposis, Anemia, Gastrointestinal infarctions, Abnormality of the gastrointestinal tract,... ORPHA:2869
Potocki-Shaffer Syndrome
Depressed nasal tip, Underdeveloped nasal alae, Hypothyroidism, Parietal foramina, Hypertension, ... ORPHA:52022
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... ORPHA:824
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short nose, Growth delay, Gastroesophageal reflux, Protruding ear, Short stature, Recurrent pneum... ORPHA:1495
Dend Syndrome
Short nose, Elevated hemoglobin A1c, Dehydration, Thickened ears, Anteverted nares ORPHA:79134
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Gastrointestinal atresia, Autoimmune hemolytic anemia, Intestinal malrotation... ORPHA:436252
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Sepsis In Premature Infants
Abnormal mucociliary clearance, Neonatal sepsis, Decreased pulmonary function, Neutropenia, Small... ORPHA:90051
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti... OMIM:613493
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Plummer-Vinson Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Glossitis, Dysphagia, Cheilitis, Geophagia... ORPHA:54028
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Recurrent sinopulmonary inf... OMIM:616740
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Microangiopathic hemolytic anemia, Intestinal perforation, Intussusce... ORPHA:90038
Non-Distal Trisomy 10Q
Convex nasal ridge, Short nose, Low-set, posteriorly rotated ears, Short stature, High palate, Mi... ORPHA:1695
Reticulocytosis, Hemolytic anemia, Splenomegaly OMIM:618892
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Pulmonary fibrosis, Dysphagia, Gastroesophageal reflux, Hypertensive crisi... ORPHA:220393
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Recurrent bacterial infections OMIM:607624
Granulomatosis With Polyangiitis
Pleuritis, Pericarditis, Cerebral ischemia, Sinusitis, Pulmonary fibrosis, Purpura, Angina pector... ORPHA:900
Cystic Fibrosis
Male infertility, Recurrent pneumonia, Reduced forced vital capacity, Bronchiectasis, Nasal polyp... OMIM:219700
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
Refractory Anemia
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... ORPHA:98826
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells, Recurrent viral infections, Recurrent bacterial ... OMIM:608957
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Adenocarcinoma of the colon, ... ORPHA:124
Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Sinusitis, Air crescent sign, Ground-g... ORPHA:228119
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophagitis, Eosinophilic microabscess formation in the esophagus, Allergic rhinitis, Esophageal ... ORPHA:411696
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Short nose, Short stature, Depressed nasal ridge ORPHA:1355
Evans Syndrome
Dyspnea, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in pres... ORPHA:1959
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Severe failure to thrive, Dehydration OMIM:601410
Hemochromatosis, Type 3
Amenorrhea, Purpura, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism, ... OMIM:604250
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Conjunctivi... OMIM:612692
Lamellar Ichthyosis
Lack of skin elasticity, Erythroderma, Chronic otitis media, Dehydration, Abnormality of the heli... ORPHA:313
Congenital Erythropoietic Porphyria
Hemolytic anemia, Scleritis, Reticulocytosis, Increased stool urobilinogen concentration, Recurre... ORPHA:79277
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Normocytic anemia, Normochromic ... OMIM:235700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Decreased proportion of memory B cells, Pulmonary fibros... ORPHA:79124
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pallor, Pancytopenia OMIM:613839
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Developmental And Epileptic Encephalopathy 73
Sensorineural hearing impairment, Short nose, Failure to thrive, Narrow nasal bridge OMIM:618379
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Multiple cafe-au-lait spots, Anemia, Leukemia OMIM:614082
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Skin ulcer, Rectal abscess OMIM:116920
Paroxysmal Hemicrania
Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea, Palpebral edema ORPHA:157835
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections... ORPHA:276
Immunodeficiency 50
Lymphopenia, Recurrent respiratory infections, Neutropenia OMIM:300988
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Whim Syndrome 1
Neutropenia, Recurrent bacterial infections, Bronchiectasis, Recurrent upper respiratory tract in... OMIM:193670
Waldenström Macroglobulinemia
Vertigo, Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Pleural effusion, Peda... ORPHA:33226
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Bulbous nose, Micrognathia, Growth delay, Posteriorly rotated ears, Low-set ears, Hea... OMIM:613604
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Melanocytic nevus, Abnormal hemoglobin, Anemia ORPHA:3319
Hepatosplenomegaly, Short nose, Microtia, Depressed nasal ridge ORPHA:221054
Acitretin/Etretinate Embryopathy
Preauricular skin tag, Hypoplasia of the thymus, Median cleft palate, Hypoplastic nasal septum, B... ORPHA:40366
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology, Hypovolemia ORPHA:2290
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Hydrops fetalis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thy... ORPHA:3261
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Pulmonary infiltrates, Neutropenia, Stomatitis, Thrombocytopenia,... OMIM:246400
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Low-set, posteriorly rotated ears, Failure to thrive in infancy, Wide nasal bridge, T... OMIM:611209
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Dehydration, Tubulointerstitial nephritis, Pancreatitis, Leukopenia, Failure to... OMIM:251000
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Subcutaneous nodule, Recurrent cutaneous abscess formation, Skin ulcer ORPHA:231
Diamond-Blackfan Anemia 10
Respiratory distress, Conductive hearing impairment, Growth delay, Atresia of the external audito... OMIM:613309
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Growth delay, Reticulocytopenia, Anisopoikilocytosis, Hypogonadism, Dysplastic eryth... ORPHA:300298
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Macule, Pyoderma... ORPHA:49566
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Hurler Syndrome
Macroglossia, Growth delay, Wide nasal bridge, Hearing impairment, Rhinitis, Short stature, Splen... ORPHA:93473
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Combined Oxidative Phosphorylation Deficiency 25
Short nose, Wide nasal bridge, Low-set ears, Short stature, Anteverted nares, Depressed nasal bridge OMIM:616430
Fatty Acyl-Coa Reductase 1 Deficiency
Short nose, Macrotia, Growth delay, Short stature, Depressed nasal bridge ORPHA:438178
Netherton Syndrome
Skin rash, Erythroderma, Emphysema, Dehydration, Recurrent infections, Asthma, Short stature, Ecz... ORPHA:634
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Convex nasal ridge, Abnormal reticulocyte morphology ORPHA:2522
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Recurrent otitis... OMIM:615518
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Asthma OMIM:147050
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Azoospermia, Pulmonary fibrosis, Spontaneous, recurrent epistaxis, Pulmonary arter... ORPHA:2072
Lactase Deficiency, Congenital
Dehydration, Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Erythematous papule, Erythematous plaque, Hepatosplenomegaly, Skin ulcer ORPHA:86884
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Anem... OMIM:175500
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia, Intrauterine g... ORPHA:295
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Dehydration, Anemia, Failure t... OMIM:251110
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Adenylosuccinate Lyase Deficiency
Low-set ears, Anteverted nares, Short nose ORPHA:46
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Macrotia, Recurrent infections, High palate, Micrognathia OMIM:617061
Immunodeficiency 69
Skin rash, Thrombocytosis, BCGosis, Leukocytosis, Pancytopenia, Failure to thrive, Splenomegaly, ... OMIM:618963
Shwachman-Diamond Syndrome
Skin rash, Carious teeth, Pneumonia, Neutropenia, Pancytopenia, Leukopenia, Sinusitis, Anemia, Ec... ORPHA:811
Lig4 Syndrome
Cryptorchidism, Biparietal narrowing, Leukocytosis, Hypothyroidism, Wide nasal bridge, Pancytopen... ORPHA:99812
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Abnormality of the nose, Xerostomia, Dry skin, Rhinitis, Periorbital wrinkles, Recurrent respirat... OMIM:614941
Aplasia Cutis Congenita
Calvarial skull defect, Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital loc... ORPHA:1114
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Pericarditis, Spotty hypopigmentation, Acral ulceration, Abnormal large intestine morphology, Myo... ORPHA:801
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Restrictive cardiomyopathy, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Short nose, Conductive hearing impairment, Low-set ears, Recurrent infections, Intrauterine growt... OMIM:616910
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Fumarase Deficiency
Polycythemia, Failure to thrive, Pallor, High palate, Anteverted nares, Depressed nasal bridge OMIM:606812
Spherocytosis, Type 5
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612690
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Purpura, Glomerulonephritis, Recurrent bacterial infections, Recurre... OMIM:613496
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Cough, Respiratory failure requiring assisted ventilation, Pneumonia, Neutropenia, Xer... ORPHA:95455
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Subcutaneous nodule, Aplasia/Hypoplasia of the thymus,... ORPHA:2176
Isovaleric Acidemia
Thrombocytopenia, Dehydration, Pancytopenia, Leukopenia OMIM:243500
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Neutropenia, Pancytopenia, Thrombocytopenia, Dehydration, Anemia, Failure t... OMIM:251100
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Apnea, Growth delay, Pulmonary arterial hypertension, Otitis media, He... ORPHA:667
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Co... OMIM:240500
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Esophageal Atresia
Polyhydramnios, Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, O... ORPHA:1199
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Carious teeth, Chronic oral candidiasis, Pulmonary fibrosis, Recurrent otiti... OMIM:608233
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Acrocraniofacial Dysostosis
Abnormality of the incus, Abnormality of the middle ear ossicles, Abnormality of the malleus, Ant... ORPHA:949
Scheie Syndrome
Sensorineural hearing impairment, Rhinitis, Splenomegaly ORPHA:93474
Beta-Ketothiolase Deficiency
Thrombocytosis, Oral aversion, Leukocytosis, Cough, Weight loss, Dehydration, Edema, Tachypnea, P... ORPHA:134
Icf Syndrome
Macroglossia, Abnormality of neutrophils, Lymphopenia, Protruding tongue, Anemia, Malabsorption, ... ORPHA:2268
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Skin-colored papule, Nodular changes affecting the eyelids, Abnormality ... ORPHA:79493
Maxillonasal Dysplasia, Binder Type
Short nose, Short columella, Dental malocclusion, Large earlobe, Depressed nasal bridge OMIM:155050
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Posteriorly rotated ears, Lo... OMIM:300209
Familial Cold Urticaria
Erythema, Conjunctivitis, Dehydration, Sensorineural hearing impairment, Polydipsia, Arthritis ORPHA:47045
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Abnormal intestine morphology, Neutropenia, Shock OMIM:600351
Spherocytosis, Type 4
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:612653
Generalized Pseudohypoaldosteronism Type 1
Pustule, Recurrent tonsillitis, Atopic dermatitis, Wheezing, Recurrent upper and lower respirator... ORPHA:171876
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections OMIM:613796
Facial Paresis, Hereditary Congenital, 3
Short nose, Dysphagia, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impairment, ... OMIM:614744
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Retinohepatoendocrinologic Syndrome
Infertility, Pallor OMIM:268040
Gaucher Disease, Type Ii
Apnea, Dysphagia, Trismus, Thrombocytopenia, Splenomegaly, Anemia, Failure to thrive, Recurrent a... OMIM:230900
Convex nasal ridge, Thin skin, Telangiectasia of the skin, Aplasia/Hypoplasia of the skin, Excess... ORPHA:2500
Majeed Syndrome
Skin rash, Joint swelling, Microcytic anemia, Growth delay, Erythroid hyperplasia, Delayed pubert... OMIM:609628
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli... OMIM:613860
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Neutropenia, Sensorineural hearing impairment, Recurrent bacterial... OMIM:610738
Anteverted nares, Short nose OMIM:180360
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Asci... ORPHA:1046
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Low-set, posteriorly rotated ears, Short nose, Short stature ORPHA:2370
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Recurrent bronchopulmonary infections ORPHA:90023
Bone Dysplasia, Lethal Holmgren Type
Severe short-limb dwarfism, Rhizomelia, Weight loss, Respiratory insufficiency, Redundant neck sk... ORPHA:1842
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ... OMIM:109270
Mental Retardation With Language Impairment And With Or Without Autistic Features
Short nose, Failure to thrive in infancy, Broad nasal tip, Retrognathia, Obesity OMIM:613670
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections OMIM:308220
Whim Syndrome
Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tra... ORPHA:51636
Rhabdoid Tumor
Internal hemorrhage, Subcutaneous nodule, Neoplasm of the liver, Hypertension, Thrombocytopenia, ... ORPHA:69077
Conjunctival telangiectasia, T lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Decreased p... OMIM:208900
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Growth delay, Neutropenia, Decreased body weight, Dehydrat... ORPHA:1667
Macrocephaly/Autism Syndrome
Short nose, Lymphopenia, Recurrent infections, Depressed nasal bridge, Splenomegaly, Obesity OMIM:605309
Vasculitis, Gastrointestinal stroma tumor, Arrhythmia, Pericarditis, Pulmonary fibrosis, Myocardi... ORPHA:221
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Neutropenia OMIM:615214
Fat malabsorption, Acanthocytosis OMIM:200100
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Macroglossia, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Cong... OMIM:614450
Werner Syndrome
Ovarian neoplasm, Secondary amenorrhea, Pulmonary artery stenosis, Type II diabetes mellitus, Spo... ORPHA:902
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Spherocytosis, Type 1
Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly OMIM:182900
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Anemic pallor, Rectal polyposis, Hematochezia, Growth delay, Small intes... ORPHA:329971
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Erythema, Pyoderma gangrenosum, Anemia, Dilated cardiomyopathy OMIM:608068
Diarrhea 4, Malabsorptive, Congenital
Dehydration, Failure to thrive OMIM:610370
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Lymphadenopathy OMIM:603552
Wolman Disease
Bone-marrow foam cells, Esophageal varix, Steatorrhea, Adrenal insufficiency, Anemia, Splenomegal... ORPHA:75233
Systemic Sclerosis
Pericarditis, Spotty hypopigmentation, Abnormal esophagus morphology, Acral ulceration, Abnormal ... ORPHA:90291
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Juvenile Polyposis Of Infancy
Hamartomatous polyposis, Intestinal bleeding, Gastrointestinal hemorrhage, Hematochezia, Intussus... ORPHA:79076
14Q11.2 Microdeletion Syndrome
Short nose, Low-set, posteriorly rotated ears, High palate, Micrognathia, Depressed nasal bridge ORPHA:261120
Schimke Immuno-Osseous Dysplasia
Hypermelanotic macule, Ischemic stroke, Abnormal proportion of naive CD4 T cells, Lymphopenia, De... ORPHA:1830
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Thrombocytosis, Leukocytosis, Weight loss, Acute pancreatitis, Dehydration, Edema, Leukope... ORPHA:20
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Skin ulcer, Erythema ORPHA:2337
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Xerostomia, Lymphocytic interst... ORPHA:289390
Congenital Tufting Enteropathy
Villous atrophy, Choanal atresia, Abnormal small intestinal mucosa morphology, Steatorrhea, Anal ... ORPHA:92050
Combined Malonic And Methylmalonic Aciduria
Dehydration, Failure to thrive OMIM:614265
Blue Rubber Bleb Nevus
Intestinal bleeding, Microcytic anemia, Gastrointestinal infarctions, Subcutaneous nodule, Volvulus ORPHA:1059
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Septic arthritis, Pancytopenia, Hearing impair... OMIM:617780
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Recurrent upp... OMIM:615952
Pierpont Syndrome
Short nose, Decreased body weight, Posteriorly rotated ears, Hearing impairment, Failure to thriv... OMIM:602342
Prolidase Deficiency
Thin skin, Erythema, Dry skin, Splenomegaly, Aplasia/Hypoplasia of the skin, Depressed nasal ridg... ORPHA:742
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive ORPHA:79283
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Stomatitis, Thrombocytopenia, Meningitis, ... OMIM:308230
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Skin ulcer, Erythema ORPHA:31112
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 12
Growth delay, Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Bronchiectasis, Autoimmune... ORPHA:1572
Hypocomplementemic Urticarial Vasculitis
Skin rash, Restrictive ventilatory defect, Dyspnea, Pleural effusion, Emphysema, Pericardial effu... ORPHA:36412
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Large fontanelles, Hypoplasia of the thymus, Cleft palate, Intrauterine growth re... OMIM:214110
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Cough, Chronic hepatitis, Pulmonary embolism, Anemia, Neutrophilia, Eczema, Eosin... ORPHA:3260
Granulomatosis With Polyangiitis
Pleuritis, Subglottic stenosis, Concave nasal ridge, Elevated bronchoalveolar lavage fluid neutro... OMIM:608710
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Narrow palate, Mandibular prognathia, Recurrent urinary tract infections, Small fo... ORPHA:99843
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Lymphadenopathy, Dry skin OMIM:617827
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, ... OMIM:618849
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Abnormality of the antihelix, Short nose, Oligohydramnios, Aplasia/Hypoplasia... ORPHA:2145
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
Acute Promyelocytic Leukemia
Vertigo, Purpura, Leukocytosis, Exertional dyspnea, Neutropenia, Epistaxis, Weight loss, Diffuse ... ORPHA:520
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185000
Peho-Like Syndrome
Retrognathia, Edema, Short nose OMIM:617507
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Maxillonasal Dysplasia
Short nose, Hypoplasia of the maxilla, Short columella, Mandibular prognathia, Abnormality of the... ORPHA:1248
Congenital Disorder Of Glycosylation, Type Il
Short nose, Pericardial effusion, Low-set ears, Edema, Ascites, Failure to thrive, Hepatosplenome... OMIM:608776
Burn-Mckeown Syndrome
Short nose, Bilateral choanal atresia, Wide nasal bridge, Short stature, Prominent nasal bridge ORPHA:1200
Trigonocephaly 1
Meckel diverticulum, Craniosynostosis, Trigonocephaly, Preauricular skin tag OMIM:190440
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Recurrent fungal infections, Autoimmune thromboc... OMIM:102700
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Pearson Syndrome
Median cleft lip and palate, Hydrops fetalis, Reticulocytosis, Dysphagia, Growth delay, Neutropen... ORPHA:699
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Iridocyclitis, Chronic oral candidiasis, Chronic active hep... OMIM:240300
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Biliary hyperplasia, Cholelithiasis, Splenomegaly, Portal hypertension ORPHA:567983
Recessive Dystrophic Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Atrophic scars, Localized skin lesion, Esophageal stricture, Anemi... ORPHA:79409
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Rosaï-Dorfman Disease
Subcutaneous nodule, Erythema, Anemia, Papule, Lymphadenopathy ORPHA:158014
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Short nose, Dysphagia, Low-set ears, Micrognathia, Depressed nasal bridge OMIM:617802
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Short nose, Dysphagia, Episodic tachypnea, Thick nasal alae, Posteriorly rot... ORPHA:163961
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Chondrodysplasia Punctata 1, X-Linked Recessive
Short nose, Anosmia, Hearing impairment, Short stature, Hypogonadism, Short nasal septum, Depress... OMIM:302950
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Hajdu-Cheney Syndrome
Wormian bones, Platybasia, Intestinal malrotation, Wide nasal bridge, Cleft palate, Delayed puber... ORPHA:955
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Thrombocytopenia, Schistocytosis OMIM:235400
Immunodeficiency, Common Variable, 13
Polyhydramnios, Pancytopenia, B lymphocytopenia, Recurrent bacterial infections, Acute lymphoblas... OMIM:616873
Refractory Anemia With Excess Blasts
Anemic pallor, Exertional dyspnea, Leukocytosis, Pedal edema, Thrombocytopenia, Acute myeloid leu... ORPHA:86839
Cebalid Syndrome
Short nose, Polyphagia, Abnormality of the pinna, Posteriorly rotated ears, Low-set ears, Hearing... OMIM:618774
Pancreatic Colipase Deficiency
Megaloblastic anemia, Fat malabsorption, Cholelithiasis, Steatorrhea ORPHA:309108
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Recurrent fungal infections, Helicobacter pylori infection, Lymphopen... ORPHA:2688
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Anemia, Spleno... ORPHA:2930
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Respiratory distress, Reticulocytosis, Thrombocytopenia, Schis... OMIM:274150
Idiopathic Aplastic Anemia
Epistaxis, Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, ... ORPHA:88
Schnitzler Syndrome
Leukocytosis, Macule, Anemia, Splenomegaly, Papule, Vasculitis, Lymphadenopathy ORPHA:37748
Autoimmune Hemolytic Anemia
Dyspnea, Hemolytic anemia, Splenomegaly, Abnormal leukocyte morphology, Pallor ORPHA:98375
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Overweight, Recurrent upper respiratory tract infections, ... ORPHA:391372
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Splenomegaly ORPHA:1802
Harlequin Ichthyosis
Erythroderma, Respiratory insufficiency, Dehydration, Depressed nasal ridge, Recurrent respirator... ORPHA:457
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia, Ascites, Abnormality of the pulmonary vascul... ORPHA:284227
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Gastrointestinal inflammation, Stridor, Respiratory distress, Dyspnea, Growth ... ORPHA:79404
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Short nose, Underdeveloped nasal alae, Taurodontia, Hypoplasia of the maxilla, Respiratory distre... OMIM:305100
Ground-glass opacification, Abnormal sputum, Pleuritis, Bronchiectasis, Pulmonary fibrosis, Nasal... ORPHA:1163
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Insulinoma, Melena, Lymphadenopathy, Iron defi... ORPHA:100076
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Bainbridge-Ropers Syndrome
Short nose, Anteverted nares, Failure to thrive, Broad nasal tip, High palate, Prominent nasal br... OMIM:615485
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Abnormality of the pinna, Umbilical hernia, Low-set ears, Short stature, Broad nasal ... OMIM:613544
Immunodeficiency 47
Splenomegaly, Sensorineural hearing impairment, Leukopenia, Recurrent bacterial infections OMIM:300972
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Cinca Syndrome
Progressive sensorineural hearing impairment, Skin rash, Leukocytosis, Lymphedema, Growth delay, ... OMIM:607115
Infection-Related Hemolytic Uremic Syndrome
Pleuritis, Pneumonia, Myocarditis, Severe viral infection, Gastrointestinal infarctions, Pleural ... ORPHA:544482
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
American Trypanosomiasis
Skin rash, Dyspnea, Cough, Aganglionic megacolon, Achalasia, Edema, Encephalitis, Splenomegaly, P... ORPHA:3386
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Intellectual Developmental Disorder, X-Linked 98
Short nose, Anteverted nares, Underdeveloped nasal alae, Macrotia, Growth delay, Gastroesophageal... OMIM:300912
Down Syndrome
Abnormality of the lymphatic system, Acute megakaryocytic leukemia, Macroglossia, Narrow palate, ... ORPHA:870
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Recurrent bronchitis, High-frequency hearing impairm... OMIM:300455
Reynolds Syndrome
Dysphagia, Gastroesophageal reflux, Telangiectasia of the skin, Xerostomia, Mucosal telangiectasi... ORPHA:779
Thrombocytopenia 5
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia OMIM:616216
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Type I diabetes mellitus, Crohn's disease, Skin ulcer, Lymphadenopathy ORPHA:69126
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Neutropenia, Anemia, Wide nasal bridge OMIM:618067
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Recurrent urinary tract infections, Depresse... ORPHA:221139
Immunodeficiency 10
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections, Rec... OMIM:612783
Cyclic Neutropenia
Respiratory tract infection, Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Ly... ORPHA:2686
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Achalasia, Colitis, B l... OMIM:618969
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Baker-Gordon Syndrome
Gastroesophageal reflux, Sleep apnea, Short nose, Prominent nasal tip OMIM:618218
Chung-Jansen Syndrome
Short nose, Macrotia, High palate, Micrognathia, Anteverted nares, Obesity OMIM:617991
Fanconi Anemia, Complementation Group L
Esophageal atresia, Wide nasal bridge, Anal atresia, Cafe-au-lait spot, Anemia, Cleft palate, Int... OMIM:614083
Familial Benign Copper Deficiency
Acne, Short stature, Anemia, Wide nasal bridge ORPHA:1551
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Midface retrusion, Flat occiput, Wide nasal bridge, ... OMIM:235255
Anemia ORPHA:655
Perlman Syndrome
Thickened helices, Short nose, Wide nasal bridge, Posteriorly rotated ears, Low-set ears, Retrogn... ORPHA:2849
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short nose, Wide nasal bridge, Hearing impairment, Short stature, Cleft palate, Micrognathia