Gene: E2f4 MGI:103012

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Human diseases associated with E2f4 (0 diseases)
Human diseases predicted to be associated with E2f4 (1922 diseases)

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	Matching phenotypes	Source
Reticular Dysgenesis	Sepsis, Hearing impairment, Recurrent respiratory infections, Skin ulcer, Failure to thrive, Leuk...	ORPHA:33355
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Aniso...	OMIM:615631
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Leishmaniasis	Skin ulcer, Pancytopenia, Leukopenia, Pallor, Abnormal macrophage morphology, Splenomegaly, Weigh...	ORPHA:507
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Villous atrophy, Sp...	OMIM:616050
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Felty Syndrome	Recurrent infections, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recurrent ur...	ORPHA:47612
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ...	OMIM:601457
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aph...	ORPHA:486
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Short sta...	OMIM:616022
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Chronic infection, M...	ORPHA:86841
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Protein-losing enteropathy, Hematochezia, Ascites, Leukocyt...	ORPHA:2070
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Eosino...	OMIM:304790
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Bulbous nose, Recurrent bacterial infections, Thrombocyt...	ORPHA:169079
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, Recurrent bacterial meni...	ORPHA:70593
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal...	OMIM:606367
Congenital Syphilis	Hearing impairment, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly,...	ORPHA:499009
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Abnormal spleen phys...	ORPHA:398063
Netherton Syndrome	Allergic rhinitis, Sepsis, Eczematoid dermatitis, Angioedema, Failure to thrive, Hypernatremic de...	OMIM:256500
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Villous a...	OMIM:619510
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer, Recurrent sinusitis, B lymphocytopenia, T lymphocytopenia, Anal canal squamous carcinoma	ORPHA:217390
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Pyoderma ga...	OMIM:604416
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Necrobiosis Lipoidica	Erythema, Indurated nodule, Abnormality of neutrophil physiology, Granuloma, Skin ulcer, Skin nod...	ORPHA:542592
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Intrauterine g...	OMIM:243150
Alpha-Heavy Chain Disease	Anemia, Abnormal small intestine morphology, Splenomegaly, Lymphadenopathy	ORPHA:100025
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Retrognathia, Failure to thrive, Micrognathia, Prominent nasal bridge, Anisocytosis	OMIM:604273
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Dominant Beta-Thalassemia	Depressed nasal bridge, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persist...	ORPHA:231226
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Recurrent sinu...	OMIM:615482
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Lymphopenia, Esophagitis, ...	ORPHA:443811
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Type I diabetes mellitus, Pancytopenia, ...	OMIM:614700
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Lymphopenia, Funct...	ORPHA:90362
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Immunodeficiency 23	Allergic rhinitis, Erythema, Molluscum contagiosum, Lymphopenia, Sensorineural hearing impairment...	OMIM:615816
17Q21.31 Microduplication Syndrome	Abnormality of the outer ear, Failure to thrive, Anteverted nares, Micrognathia, Attention defici...	ORPHA:217340
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Skin ulcer, Hypertrophic cardiomyopathy, Gastrointestinal infarc...	ORPHA:3287
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Dec...	OMIM:243700
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re...	OMIM:224120
Autosomal Agammaglobulinemia	Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infections, Failur...	ORPHA:33110
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis	OMIM:619398
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hepatosplenomegaly, Pallor, Reticulocytosis, Anorexia, Short stature, Decrease...	OMIM:611590
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:237800
Isolated Agammaglobulinemia	Skin ulcer, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of t...	ORPHA:229717
Ciliary Dyskinesia, Primary, 9	Pneumonia, Male infertility, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chron...	OMIM:612444
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Micrognathia, Abnormal proportion of...	ORPHA:125
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Anorexia, Splenomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, D...	ORPHA:79312
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy	OMIM:251850
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Prolidase Deficiency	Depressed nasal bridge, Skin ulcer, Splenomegaly, Petechiae, Diffuse telangiectasia, Thrombocytop...	OMIM:170100
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Nasal polyposis, Bronchiectasis, Conductive hearing impairmen...	ORPHA:244
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Carious teeth, Failure to thrive, Splenomegaly, Skin rash, Anemia of inadequat...	OMIM:612714
Beta-Thalassemia	Cholelithiasis, Skin ulcer, Hypertrophic cardiomyopathy, Microcytic anemia, Pallor, Splenomegaly,...	ORPHA:848
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadi...	ORPHA:231222
Classic Mycosis Fungoides	Erythema, Hypopigmented skin patches, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splen...	ORPHA:2584
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m...	OMIM:620438
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growth retardation, P...	OMIM:266200
Congenital Dyserythropoietic Anemia Type Iii	Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pallor, Anisocytosis,...	ORPHA:98870
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Failure to thrive, Dehydration	ORPHA:28
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pal...	ORPHA:35858
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri...	OMIM:301310
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Rhinitis, Reduced sperm motility, Infertility, Recur...	OMIM:615500
Specific Granule Deficiency 2	Low-set ears, Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent b...	OMIM:617475
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent respiratory ...	OMIM:612650
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Delayed puberty, Anemia, High palate, Short nose	ORPHA:2598
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Villous atrophy, Splenomegaly, Brachycephaly, Frontal bossing, Short nose	OMIM:608776
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Depressed nasal ridge, Hypochromic anemia, Failure to thrive, Microcytic anemia, Sideroblastic an...	OMIM:600462
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Ciliary Dyskinesia, Primary, 19	Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Rhinitis, Absent inner and outer dy...	OMIM:614935
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Sideroblastic anemia, Pallor, Dysphagia, Growth delay	OMIM:613561
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint...	OMIM:608184
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Carious teeth, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplen...	OMIM:259710
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Reduced sperm motility, Recurrent otitis media, Recurrent sinusitis, Rhinitis, A...	OMIM:615444
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sinusitis, Thrombocytopenia, Pyoderma ...	OMIM:616576
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Ciliary Dyskinesia, Primary, 38	Bronchiectasis, Conductive hearing impairment, Chronic sinusitis, Absent inner and outer dynein a...	OMIM:618063
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Ciliary Dyskinesia, Primary, 18	Male infertility, Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Absent inner dynei...	OMIM:614874
Ollier Disease	Precocious puberty, Skin ulcer, Anemia, Subcutaneous nodule, Lymphangioma	ORPHA:296
Lactose Intolerance, Adult Type	Decreased small intestinal mucosa lactase level	OMIM:223100
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia	OMIM:620603
Alpha-Thalassemia	Generalized edema, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, H...	ORPHA:846
X-Linked Agammaglobulinemia	Hypopigmented skin patches, Skin ulcer, Abnormality of the lymphatic system, Abnormality of the t...	ORPHA:47
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Ciliary Dyskinesia, Primary, 1	Pneumonia, Anosmia, Nasal polyposis, Conductive hearing impairment, Male infertility, Recurrent b...	OMIM:244400
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Recurrent viral infections, Recurrent upper respiratory tract infections, Ch...	OMIM:614868
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Conductive hearing impairment, Recurrent otitis media, Recurrent bronchitis,...	OMIM:616726
Diarrhea 9	Villous atrophy	OMIM:618168
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, Bronchiectasis	OMIM:615481
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology	OMIM:613502
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules	OMIM:619445
Ciliary Dyskinesia, Primary, 45	Chronic rhinitis, Absent inner and outer dynein arms, Recurrent respiratory infections, Bronchiec...	OMIM:618801
Diamond-Blackfan Anemia 8	Wide nasal bridge, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short statu...	OMIM:612563
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Ciliary Dyskinesia, Primary, 32	Absent respiratory ciliary axoneme radial spokes, Recurrent otitis media, Chronic sinusitis, Chro...	OMIM:616481
Hurler-Scheie Syndrome	Short stature, Rhinitis, Splenomegaly, Sensorineural hearing impairment	ORPHA:93476
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated...	OMIM:614372
Chronic Granulomatous Disease	Skin ulcer, Liver abscess, Splenomegaly, Tracheoesophageal fistula, Macule, Abnormality of neutro...	ORPHA:379
Dermotrichic Syndrome	Depressed nasal bridge, Macrotia, Proportionate short stature, Aganglionic megacolon, Anemia, Sho...	ORPHA:99688
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Abnormal B cell morphology, Depressed nasal bridge, Conductive hearing impairment, ...	OMIM:616910
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Mhc Class Ii Deficiency 1	Colitis, Recurrent upper respiratory tract infections, Villous atrophy, Neutropenia	OMIM:209920
Atelis Syndrome 1	Carious teeth, Eczematoid dermatitis, Dry skin, Leukopenia, Prominent nose, Glue ear, Attention d...	OMIM:620184
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Skin ulcer, Gastrointe...	ORPHA:464343
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C...	OMIM:612649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Abnormal T cell count, Abnormal B cell count, Recurrent respirato...	OMIM:613495
Hereditary Folate Malabsorption	Gastroesophageal reflux, Failure to thrive, Recurrent urinary tract infections, Pancytopenia, Pal...	ORPHA:90045
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Sensorineural hearing impairment, Megaloblastic anemia, Thrombocytopenia, Anorexia, Short...	ORPHA:49827
Dopamine Beta-Hydroxylase Deficiency	Vertigo, Retrograde ejaculation, Anemia, Rhinitis, Dehydration	ORPHA:230
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega...	OMIM:614162
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Recurrent upper respiratory tract infections, Type I diabetes mellitus, Con...	ORPHA:391487
Immunodeficiency 115 With Autoinflammation	Recurrent viral infections, Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal growth ...	OMIM:620632
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Oligohydramnios, Reticulocyt...	ORPHA:71275
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Rhini...	OMIM:615505
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Broad nasal tip, Retrognathia, Inflexible adherence to routines, Failure...	OMIM:613670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Low-set ears, Pneumonia, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infe...	OMIM:614069
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Pancreatitis, Thrombocytopenia, Anemia, Dehydration	ORPHA:27
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Absent central microtubular pair mor...	OMIM:617091
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, P...	OMIM:150550
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Short nose, Short stature, Cle...	ORPHA:2015
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:911
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Pearson Marrow-Pancreas Syndrome	Erythema, Failure to thrive, Anorexia, Sideroblastic anemia, Pancytopenia, Villous atrophy, Pallo...	OMIM:557000
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Degcags Syndrome	Low-set ears, Hearing impairment, Oral-pharyngeal dysphagia, Hepatosplenomegaly, Pancytopenia, Mi...	OMIM:619488
Lujo Hemorrhagic Fever	Facial edema, Periorbital edema, Generalized edema, Severe viral infection, Lymphopenia, Leukopen...	ORPHA:319213
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Purpura, Esophageal varix, Vasc...	OMIM:615688
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level	ORPHA:103907
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Facial erythema, C...	OMIM:603165
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Petechiae, Thrombocytopenia, Anemia, Growth delay	OMIM:611490
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Pallor, Splenomegaly, Hypochromia, Poikilocytosi...	OMIM:615234
Alg12-Cdg	Recurrent pneumonia, Sepsis, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, ...	ORPHA:79324
Pyoderma Gangrenosum	Inflammation of the large intestine, Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, ...	ORPHA:48104
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Nasal polyposis, Recurrent otitis media, Recurrent sinusitis, Chronic rhinit...	OMIM:608647
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Psoriasiform lesion, Dysphagia, Chronic ot...	OMIM:618131
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea...	OMIM:613493
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neut...	OMIM:613501
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Recurrent enteroviral infection...	ORPHA:331206
Hb Bart'S Hydrops Fetalis	Oligohydramnios, Polyhydramnios, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia, Hydrops fetal...	ORPHA:163596
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections	OMIM:242870
Syndromic Diarrhea	Aortic regurgitation, Wide nasal bridge, Lymphopenia, Dry skin, Villous atrophy, Intrauterine gro...	ORPHA:84064
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Sweet Syndrome	Inflammation of the large intestine, Dilated cardiomyopathy, Erythematous papule, Leukocytosis, E...	ORPHA:3243
Juvenile Hyaline Fibromatosis	Skin ulcer, Aplasia/Hypoplasia of the skin, Abnormality of the gastrointestinal tract, Subcutaneo...	ORPHA:2028
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:224100
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic inf...	ORPHA:83471
Propionic Acidemia	Eczematoid dermatitis, Failure to thrive, Pancytopenia, Pancreatitis, Neutropenia, Thrombocytopen...	OMIM:606054
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Sepsis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:612840
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:615451
Chilblain Lupus	Chronic myelomonocytic leukemia, Skin ulcer, Erythematous papule, Raynaud phenomenon	ORPHA:90280
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Lymphedema, Vertigo, Leukocytosis, Splenomegaly, Pallor, Sensorineural hearing im...	ORPHA:3226
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, An...	ORPHA:424019
Congenital Atransferrinemia	Anemia, Recurrent infections, Arthritis	ORPHA:1195
Toxic Epidermal Necrolysis	Erythema, Gastrointestinal hemorrhage, Skin ulcer, Tracheoesophageal fistula, Dysphagia, Thromboc...	ORPHA:537
Congenital Disorder Of Glycosylation, Type Id	Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Bulbous nose, Villous atrophy, High palate	OMIM:601110
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
H Syndrome	Hearing impairment, Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Psoriasiform dermatitis,...	ORPHA:168569
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio...	ORPHA:98813
Dend Syndrome	Anteverted nares, Thickened ears, Short nose, Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Harderoporphyria	Increased fecal harderoporphyrin, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:618892
X-Linked Sideroblastic Anemia	Anemia, Pallor, Splenomegaly	ORPHA:75563
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia	OMIM:616744
Potocki-Shaffer Syndrome	Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Depressed nasal tip, Prominent nas...	ORPHA:52022
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Recurrent pneumonia, Bulbous nose, Leukopenia, Intrauterine growth retardation, Micro...	OMIM:616271
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, ...	OMIM:617092
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Chronic sinusitis, Chronic...	OMIM:614679
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Priapism, Persistence ...	ORPHA:232
Osteootohepatoenteric Syndrome	Anemia, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception	OMIM:619377
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Failure to thrive, Recurrent apht...	ORPHA:275
Shigellosis	Pneumonia, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Failure to thrive in in...	ORPHA:810
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Dilated cardiomyopathy, Third degree atrioventricular block, Cervical lymphad...	OMIM:619573
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Depressed nasal ridge, Retrognathia, Intrauterine growth retardation, Anteverted na...	ORPHA:1832
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Carious teeth, Failure to thrive, Delayed eruption of teeth, Prominent nose,...	OMIM:214150
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Combined Oxidative Phosphorylation Deficiency 47	Low-set ears, Failure to thrive, Intrauterine growth retardation, Sensorineural hearing impairmen...	OMIM:618958
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic hemolytic anemia,...	OMIM:235700
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Anisocytosis, Hypochromia, Poikilocy...	OMIM:258900
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Dyskeratosis Congenita	Bone marrow hypocellularity, Oral leukoplakia, Hypopigmented skin patches, Skin ulcer, Anorectal ...	ORPHA:1775
Trichohepatoenteric Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Intrauterine growth retardation, Villous atrophy, Colitis	OMIM:614602
Developmental And Epileptic Encephalopathy 73	Failure to thrive, Narrow nasal bridge, Sensorineural hearing impairment, Restlessness, Short nose	OMIM:618379
Plummer-Vinson Syndrome	Pallor, Iron deficiency anemia, Esophageal web, Dysphagia, Hypochromic microcytic anemia, Glossit...	ORPHA:54028
Retinitis Pigmentosa And Erythrocytic Microcytosis	Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr...	OMIM:616959
Ciliary Dyskinesia, Primary, 16	Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis, Absent outer dynein arms	OMIM:614017
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti...	OMIM:202700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Wide nasal bridge, Recurrent upper respiratory tract infections, Lymphopenia, Hepatosplenomegaly,...	OMIM:612541
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recu...	OMIM:607594
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopen...	ORPHA:158057
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Villous atrophy, Perioral erythema, Duodenitis	OMIM:614328
Transient Neonatal Diabetes Mellitus	Hearing impairment, Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Macrogl...	ORPHA:99886
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to t...	OMIM:613179
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Immunodeficiency 61	Recurrent otitis media, Obesity, Recurrent sinusitis, Attention deficit hyperactivity disorder, R...	OMIM:300310
Bleeding Disorder, Platelet-Type, 19	Epistaxis, Thrombocytopenia, Anemia, Macrothrombocytopenia, Menorrhagia	OMIM:616176
Ciliary Dyskinesia, Primary, 7	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis...	OMIM:611884
Lichen Planopilaris	Skin ulcer, Hypopigmented skin patches, Dermal atrophy, Abnormal intestine morphology, Papule	ORPHA:525
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Skin ulcer, Gastrointestina...	ORPHA:91138
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomegaly, Increased r...	OMIM:194380
Ring Chromosome 8 Syndrome	Polyhydramnios, Anteverted nares, Short nose, Round ear	ORPHA:1450
Chronic Hiccup	Weight loss, Abnormal eating behavior, Dehydration	ORPHA:396
Secondary Short Bowel Syndrome	Central hypothyroidism, Volvulus, Villous atrophy, Abnormal small intestine morphology, Primary h...	ORPHA:95427
Carboxypeptidase N Deficiency	Allergic rhinitis, Angioedema	OMIM:212070
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Bifid uvula, Depressed nasal ridge, Frontal bossing, Anteverted nares, Vill...	OMIM:222470
Hereditary Elliptocytosis	Stomatocytosis, Skin ulcer, Postnatal growth retardation, Abnormal erythrocyte morphology, Congen...	ORPHA:288
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Gout, Reticulocytosis	OMIM:232800
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu...	OMIM:193670
Ciliary Dyskinesia, Primary, 40	Azoospermia, Chronic sinusitis, Chronic rhinitis, Infertility, Absent outer dynein arms	OMIM:618300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired...	OMIM:619313
Acute Radiation Syndrome	Hypotension, Skin ulcer, Lymphopenia, Dermal atrophy, Telangiectasia, Thrombocytopenia, Scaling s...	ORPHA:454831
Evans Syndrome	Epistaxis, Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutro...	ORPHA:1959
Ciliary Dyskinesia, Primary, 42	Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:618695
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo...	OMIM:613500
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Skin ulcer, Skin vesicle, Eosinophilia, Craniosynostosis, Papule, Cleft palate	ORPHA:2314
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recurrent sinus...	OMIM:240500
Livedoid Vasculopathy	Erythematous papule, Polycythemia, Skin ulcer, Macular purpura, Graves disease, Atrophic scars, P...	ORPHA:542643
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Rectal prolapse, Peritonitis, I...	ORPHA:90038
Gaucher Disease, Perinatal Lethal	Low-set ears, Depressed nasal bridge, Retrognathia, Ascites, Hepatosplenomegaly, Intrauterine gro...	OMIM:608013
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Hypopigmented skin patches, Skin ulcer, Telangiectasia of the skin, Pulm...	ORPHA:220402
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Villous atrophy, Decreased proportion of ...	OMIM:619381
Johanson-Blizzard Syndrome	Failure to thrive, Underdeveloped nasal alae, Anteriorly placed anus, Delayed eruption of teeth, ...	ORPHA:2315
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short stature, Attention deficit hyperactivity disorder, Small for gestational age, Short nose	OMIM:245570
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro...	OMIM:300048
Infantile Myofibromatosis	Skin ulcer, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula, Sub...	ORPHA:2591
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Recurrent respiratory infections, Hepatosplenomegaly, Elliptocytosis, Reticulo...	OMIM:618278
Intellectual Developmental Disorder, X-Linked 91	High palate, Obesity, Short nose	OMIM:300577
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate...	ORPHA:124
Sepsis In Premature Infants	Small for gestational age, Invasive fungal infection, Functional abnormality of the gastrointesti...	ORPHA:90051
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Erythema, Angioedema, Recurrent otitis media, Hashimoto thyroiditis, Onychomyc...	OMIM:614468
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Macule, Pyoderma gangrenosum, Intr...	ORPHA:49566
Mirage Syndrome	Sepsis, Gastroesophageal reflux, Aspiration pneumonia, Recurrent urinary tract infections, Lympho...	OMIM:617053
Immunodeficiency 104	Gastroesophageal reflux, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Congenital Disorder Of Glycosylation, Type Ia	Depressed nasal bridge, Cardiomyopathy, Villous atrophy, Hypothyroidism, Thrombocytosis, Steatorr...	OMIM:212065
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Recurrent pneumonia, Gastroesophageal reflux, Intrauterine growth retardation, Micrognathia, Prot...	ORPHA:1495
Waldenström Macroglobulinemia	Normocytic anemia, Recurrent infections, Periorbital edema, Epistaxis, Gastrointestinal hemorrhag...	ORPHA:33226
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Immunodeficiency 69	Hemophagocytosis, BCGitis, Failure to thrive, Pancytopenia, Hepatosplenomegaly, Leukocytosis, Ski...	OMIM:618963
Immunodeficiency 46	Sepsis, Failure to thrive, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidia...	OMIM:616740
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Chronic rhinitis, Immotile sperm, Sinusitis, Absent respiratory ciliary axoneme ...	OMIM:242670
Bone Marrow Failure Syndrome 4	Low-set ears, Rhizomelia, Eczematoid dermatitis, Dry skin, Leukopenia, Thrombocytopenia, Anemia, ...	OMIM:618116
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Villous atrophy, Hypogonadotropic hypogonadism, De...	OMIM:600955
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Nasal polyposis,...	ORPHA:2869
Non-Distal Duplication 10Q	Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, Convex nasal ridge, Shor...	ORPHA:1695
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Erythrodontia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splen...	ORPHA:79277
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Hepatosplenomegaly, Azoospermia, Pallor, Reticulocytopenia, Dysplastic erythropoesi...	ORPHA:300298
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Hurthle cell thyroid adenoma, Thyroid carcinoma, Intestinal polyposis, Ly...	ORPHA:210548
Fetal Parvovirus Syndrome	Ascites, Intrauterine growth retardation, Increased nuchal translucency, Thrombocytopenia, Anemia...	ORPHA:295
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Agammaglobulinemia 8B, Autosomal Recessive	Depressed nasal bridge, Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Failure to thrive, P...	OMIM:619824
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Failure to thrive, Recurrent bronchiolitis, Pustule, Polyhydramnios, Dehydra...	OMIM:616069
Immunodeficiency 112	Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,...	OMIM:620449
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Short stature, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Congenital Tufting Enteropathy	Choanal atresia, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small int...	ORPHA:92050
Immunodeficiency 13	Recurrent pneumonia, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent oti...	OMIM:615518
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, ...	ORPHA:397596
Weiss-Kruszka Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Prominent nasal tip, Short nose	ORPHA:502430
Aplasia Cutis Congenita	Erythema, Skin ulcer, Calvarial skull defect, Aplasia cutis congenita, Aplasia cutis congenita ov...	ORPHA:1114
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Intrauterine growth retardation, Dehydration	OMIM:601410
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Female infertility, Hearing impairment, Chronic rhinitis	OMIM:617577
Acitretin/Etretinate Embryopathy	Preauricular skin tag, Hypoplastic nasal septum, Third degree atrioventricular block, Anteverted ...	ORPHA:40366
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Villous atrophy, Hyperinsulinemic hypoglycemia, Lymphangiectasis, Ste...	OMIM:602579
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Decreased circulating T4 concentration, Intrauterine growth retardati...	OMIM:608104
Paroxysmal Hemicrania	Palpebral edema, Rhinitis, Restless legs, Focal sensory seizure with olfactory features	ORPHA:157835
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Polyhydramnios, Recurrent fungal infections, B lymphocy...	OMIM:616873
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short stature, Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Lymphedema, Sinusitis, Rhinitis, Bronch...	ORPHA:662
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Int...	ORPHA:436252
Hurler Syndrome	Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Recurrent respiratory infections, ...	ORPHA:93473
C1Q Deficiency 2	Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Malar rash, C...	OMIM:620321
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Polyarteritis Nodosa	Erythema, Skin ulcer, Cardiomyopathy, Abnormality of the gastrointestinal tract, Raynaud phenomen...	ORPHA:767
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Short nose, Microtia	ORPHA:221054
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor, Failure to thrive, Anorexia	ORPHA:79283
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Arthri...	OMIM:210250
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Low-set ears, Giant cell hepatitis, Hearing impairment, Failure to thrive, Oligohydramnios, Micro...	OMIM:208085
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Low-set ears, Pneumonia, Reduced natural killer cell count, Depressed nasal bridge, Failure to th...	OMIM:242860
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Skin ulcer, Neutropenia	OMIM:620443
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Brooke-Spiegler Syndrome	Skin ulcer, Abnormality of the submandibular glands, Skin-colored papule, Salivary gland neoplasm...	ORPHA:79493
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Low-set ears, Wide nasal bridge, Gastroesophageal reflux, Growth delay, Hearing impairment, Recur...	OMIM:613604
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Trigonocephaly 1	High, narrow palate, Preauricular skin tag, Wide nasal bridge, Meckel diverticulum, Trigonocephal...	OMIM:190440
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Depressed nasal ridge, Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Micrognathia, Anemia	ORPHA:1046
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Abnormal T cell morphology, Recurrent bronchitis, Ch...	OMIM:612692
Fanconi Anemia, Complementation Group G	Anemia, Multiple cafe-au-lait spots, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Hemochromatosis, Type 3	Impotence, Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, A...	OMIM:604250
Poikiloderma With Neutropenia	Depressed nasal bridge, Recurrent pneumonia, Carious teeth, Retrognathia, Underdeveloped nasal al...	OMIM:604173
Beta-Ketothiolase Deficiency	Edema, Anorexia, Pallor, Leukocytosis, Oral aversion, Agitation, Weight loss, Thrombocytosis, Deh...	ORPHA:134
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Gastritis, Perianal absce...	OMIM:618108
Dracunculiasis	Subcutaneous nodule, Skin ulcer, Recurrent cutaneous abscess formation	ORPHA:231
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Convex nasal ridge	ORPHA:2522
Isovaleric Acidemia	Dehydration, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short nose, Short stature, Growth delay, Macrotia	ORPHA:438178
Wolcott-Rallison Syndrome	Ascites, Decreased body weight, Lymphocytosis, Iron deficiency anemia, Neutropenia, Short stature...	ORPHA:1667
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Erythematous papule, Skin ulcer, Hemophagocytosis, Hepatosplenomegaly, Erythematous plaque	ORPHA:86884
Microvillus Inclusion Disease	Abnormal small intestinal villus morphology, Villous atrophy, Hypovolemia	ORPHA:2290
Adenylosuccinate Lyase Deficiency	Low-set ears, Anteverted nares, Short nose	ORPHA:46
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Bronchiectasis...	ORPHA:922
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment, Neutropenia, Recurrent bacterial...	OMIM:610738
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Skin ulcer, Rectal abscess	OMIM:116920
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Harlequin Ichthyosis	Self-injurious behavior, Depressed nasal ridge, Hearing abnormality, Erythroderma, Recurrent resp...	ORPHA:457
3-Hydroxy-3-Methylglutaric Aciduria	Dehydration, Anorexia, Leukopenia, Leukocytosis, Pallor, Weight loss, Thrombocytosis, Anemia, Acu...	ORPHA:20
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Failure to thrive, Eosinophilic mi...	ORPHA:411696
Clark-Baraitser Syndrome	Low-set ears, Depressed nasal bridge, Large earlobe, Anteverted nares, Obesity, Aggressive behavi...	OMIM:617752
Chung-Jansen Syndrome	Large earlobe, Anteverted nares, Obesity, Micrognathia, Impulsivity, Attention deficit hyperactiv...	OMIM:617991
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Skin ulcer, Abnormality of the nose, Diabetes...	ORPHA:900
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Lamellar Ichthyosis	Abnormal helix morphology, Sepsis, Dry skin, Lack of skin elasticity, Erythroderma, Short stature...	ORPHA:313
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Acute Promyelocytic Leukemia	Epistaxis, Anorexia, Vertigo, Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Petechia...	ORPHA:520
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Spherocytosis, Type 4	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:612653
Werner Syndrome	Gastrointestinal carcinoma, Secondary amenorrhea, Skin ulcer, Congestive heart failure, Hypogonad...	ORPHA:902
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Abnormal nasopharyngeal adenoid morphology, Leukocyt...	ORPHA:3392
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Rectal polyposis, Duodenal polyposis, Multiple gastric polyps, Anemic pallor, Small...	ORPHA:329971
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia	OMIM:613839
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Periorbital edema, Recurrent viral infections, Failure to...	OMIM:618048
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Abnormal B cell count, Glomerulonephritis, Recurrent bacterial infections,...	OMIM:613496
Diamond-Blackfan Anemia 10	Low-set ears, Choanal atresia, Conductive hearing impairment, Atresia of the external auditory ca...	OMIM:613309
Scheie Syndrome	Rhinitis, Splenomegaly, Sensorineural hearing impairment	ORPHA:93474
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Delayed eruption of teeth, Pallor, Splenomegaly, Otitis media, Chronic rhinit...	ORPHA:667
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Skin ulcer, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Azoosper...	ORPHA:2072
Acrogeria	Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, ...	ORPHA:2500
Foxp1 Syndrome	Hypoplastic helices, Recurrent upper respiratory tract infections, Broad nasal tip, Failure to th...	ORPHA:391372
Cystic Fibrosis	Recurrent pneumonia, Nasal polyposis, Failure to thrive, Meconium ileus, Male infertility, Hepato...	OMIM:219700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulointerstitial ne...	OMIM:251000
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Absent tragus, Abnormality of the outer ear, Hypoplasia of the maxilla, Conductive ...	ORPHA:79113
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Immunodeficiency 12	Recurrent viral infections, Recurrent aphthous stomatitis, Skin rash, Recurrent bacterial infecti...	OMIM:615468
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent enteroviral infections, Hearing impairment, Enterovir...	OMIM:307200
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk...	OMIM:614470
Familial Cold Urticaria	Erythema, Polydipsia, Sensorineural hearing impairment, Arthritis, Conjunctivitis, Dehydration	ORPHA:47045
Shwachman-Diamond Syndrome	Abnormality of the outer ear, Recurrent viral infections, Aplastic anemia, Hearing impairment, Ca...	ORPHA:811
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Rhiny	Anteverted nares, Short nose	OMIM:180360
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Protein-losing enteropathy, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit...	OMIM:175500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Hermansky-Pudlak Syndrome 2	Low-set ears, Wide nasal bridge, Recurrent pneumonia, Reduced natural killer cell count, Periodon...	OMIM:608233
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Agitation, Aggressive behavior, Hyperactivity, Short no...	OMIM:300558
Spherocytosis, Type 1	Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis	OMIM:182900
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, ...	OMIM:605309
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Smith-Magenis Syndrome	Wide nasal bridge, Abnormality of the outer ear, Mandibular prognathia, Head-banging, Velopharyng...	OMIM:182290
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana...	ORPHA:3216
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short stature, Short nose	ORPHA:2370
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose	OMIM:155050
Chylomicron Retention Disease	Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes	OMIM:246700
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Gastroesophageal reflux, Bulbous nose, Aggressive behavior, Attention deficit ...	OMIM:620292
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Familial Benign Copper Deficiency	Anemia, Acne, Short stature, Wide nasal bridge	ORPHA:1551
Prolidase Deficiency	Erythema, Depressed nasal ridge, Depressed nasal bridge, Skin ulcer, Dry skin, Splenomegaly, Apla...	ORPHA:742
Bone Dysplasia, Lethal Holmgren Type	Depressed nasal ridge, Rhizomelia, Failure to thrive, Anteverted nares, Hearing abnormality, Redu...	ORPHA:1842
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Pulmonary hemorrha...	ORPHA:79124
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Trigonocephaly, Intrauterine growth r...	OMIM:616395
Juvenile Polyposis Of Infancy	High, narrow palate, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Protein-losi...	ORPHA:79076
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Microcytic anemia, Protruding tongue, Neutrophilia, Depressed nasal ridge...	ORPHA:99843
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Dehydration	OMIM:251110
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Lym...	OMIM:616005
Free Sialic Acid Storage Disease	Skin ulcer, Splenomegaly	ORPHA:834
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyelitis, Proportion...	ORPHA:171876
Immunodeficiency 10	Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Splenome...	OMIM:612783
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Sepsis, Xerostomia, Skin ulcer, Oral-...	ORPHA:95455
Pierpont Syndrome	Broad nasal tip, Hearing impairment, Failure to thrive, Large fleshy ears, Decreased body weight,...	OMIM:602342
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Low-set, posteriorly rotated ears, Micrognathia, High palate, Short nose	ORPHA:261120
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Anemia, Rectal prolapse	ORPHA:209964
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Dehydration	OMIM:610370
Neutrophilic Dermatosis, Acute Febrile	Erythema, Dilated cardiomyopathy, Pyoderma gangrenosum, Anemia, Small vessel vasculitis	OMIM:608068
Even-Plus Syndrome	Severe short stature, Atopic dermatitis, Depressed nasal ridge, Bifid nasal tip, Recurrent urinar...	OMIM:616854
Immunodeficiency 32B	Pneumonia, Failure to thrive, BCGitis, Recurrent respiratory infections, Impaired oxidative burst...	OMIM:226990
Lactase Deficiency, Congenital	Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Fumarase Deficiency	Depressed nasal bridge, Polycythemia, Failure to thrive, Ascites, Anteverted nares, Pallor, Polyh...	OMIM:606812
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Dry skin, Increased body weight, Increased body mass index, Anemia, Ma...	OMIM:614450
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Chronic infection, Leukocytosis, Anemia of inadequate productio...	ORPHA:86839
Eosinophilia, Familial	Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:131400
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Depressed nasal bridge, Broad nasal tip, Abnormal proportion of naiv...	ORPHA:1830
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Papule, Skin ulcer	ORPHA:2337
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis	OMIM:246400
Ige Responsiveness, Atopic	Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, Achalasia, B l...	OMIM:618969
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Purpura	OMIM:235400
Diamond-Blackfan Anemia 1	Depressed nasal ridge, Increased mean corpuscular volume, Failure to thrive, Retrognathia, Persis...	OMIM:105650
Combined Malonic And Methylmalonic Aciduria	Failure to thrive, Dehydration	OMIM:614265
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Anteverted na...	OMIM:619005
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten...	ORPHA:2978
Buerger Disease	Vasculitis, Arterial occlusion, Skin ulcer, Intermittent claudication, Raynaud phenomenon	ORPHA:36258
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Dehydration	OMIM:251100
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Depressed nasal bridge, Xerostomia, Periorbital wrinkles, Recurrent respiratory infections, Dry s...	OMIM:614941
Pearson Syndrome	Growth delay, Hearing impairment, Postnatal growth retardation, Pancytopenia, Median cleft palate...	ORPHA:699
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i...	ORPHA:2688
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Mandibular prognathia, ...	ORPHA:1248
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Wide nasal bridge, Disproportionate short stature, Retrognathia, Lymphopenia, Leukopenia, Recurre...	OMIM:301110
Chilblain Lupus 1	Skin ulcer, Raynaud phenomenon	OMIM:610448
Idiopathic Aplastic Anemia	Epistaxis, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia, Re...	ORPHA:88
Recon Progeroid Syndrome	Growth delay, Underdeveloped nasal alae, Dry skin, Anteverted nares, Prominent nasal bridge, Dela...	OMIM:620370
Systemic Sclerosis	Intestinal bleeding, Digital ulcer, Telangiectasia, Digital pitting scar, Dysphagia, Gastroesopha...	ORPHA:90291
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Recurre...	OMIM:601495
Congenital Toxoplasmosis	Hearing impairment, Ascites, Failure to thrive in infancy, Intrauterine growth retardation, Throm...	ORPHA:858
Infantile Systemic Hyalinosis	Skin ulcer, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormality of the adrenal glan...	ORPHA:2176
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:31112
Panhypophysitis	Polydipsia, Decreased male libido, Pallor, Decreased female libido, Sensorineural hearing impairm...	ORPHA:95513
Baker-Gordon Syndrome	Self-injurious behavior, Gastroesophageal reflux, Prominent nasal tip, Motor stereotypy, Short nose	OMIM:618218
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Weight loss, Anorexia, Dehydration	ORPHA:178029
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Recurrent viral infections, Hepatitis, Eczematoi...	OMIM:620565
Peho-Like Syndrome	Retrognathia, Edema, Short nose	OMIM:617507
Wolman Disease	Adrenal calcification, Adrenal insufficiency, Splenomegaly, Anemia, Bone-marrow foam cells, Esoph...	ORPHA:75233
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Hereditary Sensory And Autonomic Neuropathy Type 1	Gastroesophageal reflux, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Hepatosplenomegaly, Pancytopenia, Portal hypertension, ...	ORPHA:98850
Recessive Dystrophic Epidermolysis Bullosa Inversa	Localized skin lesion, Atrophic scars, Milia, Gastrointestinal inflammation, Anemia, Esophageal s...	ORPHA:79409
Rhabdoid Tumor	Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Lymphadenopathy, Anemia, Subcutaneo...	ORPHA:69077
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Failure to thrive, Sensorineural hearing impairment, Absent circulating B ...	OMIM:619693
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Cebalid Syndrome	Low-set ears, Depressed nasal ridge, Depressed nasal bridge, Hearing impairment, Anteverted nares...	OMIM:618774
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Lymphedema, Hepatosplenomegaly,...	OMIM:607115
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retardat...	OMIM:615419
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatosplenomegaly, Pallor, Iron deficiency anemia, Glomerulonephritis	ORPHA:99931
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutrope...	OMIM:616216
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Intestinal ma...	ORPHA:77300
Proliferating Trichilemmal Cyst	Skin ulcer, Epidermoid cyst	ORPHA:492
Immunodeficiency With Hyper-Igm, Type 1	Pneumocystis carinii pneumonia, Sepsis, Hepatitis, Failure to thrive, Hemolytic anemia, Enterovir...	OMIM:308230
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Increased circulating cortisol level, Abnormal lymph nod...	ORPHA:99889
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency 27A	Pneumonia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory respo...	OMIM:209950
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Intes...	OMIM:615237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Short stature, Short nose	ORPHA:1200
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