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Gene: E2f4 MGI:103012

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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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to E2f4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Sepsis, D... ORPHA:33355
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... OMIM:615631
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Skin ulcer, Weight loss, An... ORPHA:507
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Enterocolitis, Anemia, ... OMIM:616050
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Ma... ORPHA:229717
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurr... OMIM:301082
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... ORPHA:47612
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Edema, Allergic rhinitis, Malabsorption,... ORPHA:2070
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, B... OMIM:601457
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Cernunnos-Xlf Deficiency
Recurrent viral infections, Bulbous nose, Anemia, T lymphocytopenia, Recurrent bacterial infectio... ORPHA:169079
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... ORPHA:398063
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... OMIM:616022
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia ORPHA:46532
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, Anal canal squamous carcinoma, T lymphocytopenia, B lymphocytopenia, Recurrent sinusitis ORPHA:217390
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Villous atrophy, Recurrent skin infe... OMIM:256500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Lymphadenopa... OMIM:304790
Necrobiosis Lipoidica
Diabetes mellitus, Telangiectasia of the skin, Indurated nodule, Abnormality of the thyroid gland... ORPHA:542592
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, High p... ORPHA:443811
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Colitis, Thrombocytosi... OMIM:604416
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Pallor, Hyperplasia of the maxilla, Depressed nasal b... ORPHA:231226
Immunodeficiency 85 And Autoimmunity
Villous atrophy, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:619510
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... ORPHA:70593
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Cough, Absent outer dynein arms, Bron... OMIM:612444
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Prominent nasal bridge, Anisocytosis, Micrognathia, Retrognathia OMIM:604273
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Fetal Cytomegalovirus Syndrome
Splenomegaly, Sensorineural hearing impairment, Anemia ORPHA:294
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Malabsorption, Abnormality of ... ORPHA:47
Primary Ciliary Dyskinesia
Asplenia, Conductive hearing impairment, Chronic otitis media, Abnormal sperm motility, Male infe... ORPHA:244
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, High palate, Neutropenia,... OMIM:615816
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Takayasu Arteritis
Hypertensive crisis, Myocardial infarction, Subcutaneous nodule, Vasculitis, Skin ulcer, Hyperten... ORPHA:3287
Bloom Syndrome
Recurrent herpes, Micrognathia, Severe varicella zoster infection, Uveitis, Gastroesophageal refl... ORPHA:125
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Small for gestational age, Mild postnatal growth retardation, ... OMIM:224120
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, High palate, Compulsive behaviors, Attention deficit hyperactivit... ORPHA:217340
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropen... OMIM:614700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Asthm... OMIM:612714
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary... OMIM:612650
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Anorexia, Hepatosplenomegaly, Decreased mean co... OMIM:611590
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia, Splenomegaly, Dehydration, Anemia, Neutropenia, Failure to thrive... ORPHA:79312
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Respiratory insufficiency, Anemia, Dehydration ORPHA:28
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia OMIM:237800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, A... ORPHA:231222
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Classic Mycosis Fungoides
Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Lymphadenopathy, Abn... ORPHA:2584
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... OMIM:614874
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner... OMIM:614935
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, ... ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... OMIM:266200
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... OMIM:618063
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Gro... OMIM:613561
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular ... ORPHA:98870
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Bronchiectasis, D... OMIM:612649
Prolidase Deficiency
Petechiae, Depressed nasal bridge, Splenomegaly, Diffuse telangiectasia, Skin ulcer, Anemia, Conc... OMIM:170100
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Chronic Granulomatous Disease
Macule, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Malabsorption, Splenome... ORPHA:379
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Delayed puberty, Short nose, Anemia ORPHA:2598
Specific Granule Deficiency 2
Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Recurre... OMIM:617475
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Cough, Conductive ... OMIM:616726
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Micrognathia, Depressed nasal ridge... OMIM:600462
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Persistence of ... OMIM:259710
Beta-Thalassemia Major
Extramedullary hematopoiesis, Pallor, Hypothyroidism, Hypoparathyroidism, Depressed nasal bridge,... ORPHA:231214
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... ORPHA:75564
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Anosmia, Bronch... OMIM:244400
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Pyoderma gangrenosum, Recurrent sinusitis, Throm... OMIM:616576
Ollier Disease
Precocious puberty, Subcutaneous nodule, Skin ulcer, Lymphangioma, Anemia ORPHA:296
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Recurrent upper respiratory tract infections, Colitis, Neutropenia OMIM:209920
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Tachypnea, Hep... ORPHA:71275
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Autoimmune thrombocytopenia, Abnormality of the endocrine sys... ORPHA:391487
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Diarrhea 9
Villous atrophy OMIM:618168
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Overfolded helix, Cleft pa... ORPHA:79113
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Thrombotic Thrombocytopenic Purpura
Dyspnea, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology OMIM:613502
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Malabsorption, Thromboc... OMIM:557000
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... ORPHA:906
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, D... OMIM:617241
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... OMIM:614372
Hurler-Scheie Syndrome
Splenomegaly, Sensorineural hearing impairment, Rhinitis, Short stature ORPHA:93476
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol... OMIM:612563
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Leukopenia, Neutropenia, Thrombocytopenia OMIM:229050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... OMIM:300908
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Vertigo, Dehydration, Retrograde ejaculation, Rhinitis, Anemia ORPHA:230
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Facial edema, Periorbital edema, Odynophagia, Fulminant hepatitis... ORPHA:319213
Dermotrichic Syndrome
Aganglionic megacolon, Depressed nasal bridge, Proportionate short stature, Short nose, Macrotia,... ORPHA:99688
Dermatitis, Atopic
Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, Atopic dermatitis, Facial erythema,... OMIM:603165
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Degcags Syndrome
Polyhydramnios, Prominent nose, Oral-pharyngeal dysphagia, Micrognathia, Leukopenia, Iron deficie... OMIM:619488
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Atelis Syndrome 1
Glue ear, Eczema, Prominent nose, Carious teeth, Bronchiectasis, Recurrent infections, Anemia, Le... OMIM:620184
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... ORPHA:822
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent ... OMIM:614069
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis OMIM:179700
Alg12-Cdg
Redundant skin, Polyhydramnios, Edema, Micrognathia, Sepsis, Gastroesophageal reflux, Recurrent e... ORPHA:79324
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Dehydration, Respiratory insufficiency, Anemia, Leukopenia, Pancreatitis, Thro... ORPHA:27
Immunodeficiency 58
Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ... OMIM:618131
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
H Syndrome
Psoriasiform dermatitis, Short stature, Hearing impairment, Microcytic anemia, Malabsorption, Rec... ORPHA:168569
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosu... OMIM:150550
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Anorexia, Megaloblastic anemia, Sensorineural hearing impairment, Pallor, Thromboc... ORPHA:49827
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Cleft palate, S... ORPHA:2015
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia, Growth delay, Petechiae OMIM:611490
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... OMIM:614162
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Broad nasal tip, Aggressive behavior, Obesity, Self-injurious behav... OMIM:613670
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Leukopenia, Hashimoto thyroiditis, Portal hypertension, Raynaud phenomenon, Le... OMIM:615688
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Edema, Spl... ORPHA:3202
Propionic Acidemia
Pancytopenia, Apnea, Eczema, Short stature, Tachypnea, Dehydration, Anemia, Neutropenia, Failure ... OMIM:606054
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Inflammation of the large intestine, Skin vesicle, Myeloid leukemia, ... ORPHA:48104
X-Linked Sideroblastic Anemia
Dyspnea, Splenomegaly, Pallor, Anemia ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Pallor,... OMIM:615234
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Malabsorption, Obesity, A... OMIM:300310
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Depresse... ORPHA:1832
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Anemia,... ORPHA:163596
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ... ORPHA:331206
Syndromic Diarrhea
Aortic regurgitation, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, W... ORPHA:84064
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Skin nodule, Pyoderma gangrenosum, Dilated ca... ORPHA:3243
Combined Oxidative Phosphorylation Deficiency 47
Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Dehydration, Low-set ... OMIM:618958
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, S... ORPHA:2028
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Petechiae, Splenomegaly, Leuk... OMIM:612840
Chilblain Lupus
Raynaud phenomenon, Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia ORPHA:90280
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Sepsis, Deh... ORPHA:2552
Anemia, Congenital Dyserythropoietic, Type Ii
Splenomegaly, Reticulocytosis, Anemia of inadequate production OMIM:224100
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytos... ORPHA:3226
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of ... ORPHA:424019
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia, Anorexia, Thrombocytopenia, Leuk... ORPHA:824
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Small for gestational age, Prominent nasal bridge, Prominent nose, Mic... OMIM:214150
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Macule, Sudden cardiac death, Malabsorption, Intestinal perforation,... ORPHA:537
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Congenital Atransferrinemia
Arthritis, Anemia, Recurrent infections ORPHA:1195
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, Skin vesicle, Macule, Aplasia/Hypoplasia of the sk... ORPHA:1775
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Polyhydramnios, Micrognathia, Trismus, Bulbous nose, Recurrent ... OMIM:616271
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate, Bifid uvula OMIM:601110
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Pneumonia, Pure red cell aplasia, Auto... OMIM:613179
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Harderoporphyria
Splenomegaly, Hemolytic anemia, Increased fecal harderoporphyrin, Reticulocytosis OMIM:618892
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal ab... OMIM:612541
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Invasive fungal infection, Increased T cell count, Recurrent mycobacterial... ORPHA:98813
Dend Syndrome
Anteverted nares, Elevated hemoglobin A1c, Dehydration, Thickened ears, Short nose ORPHA:79134
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Skin rash, Recurrent viral infections, Recurrent mycobacterial infectio... ORPHA:275
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Failure to thrive, Recurrent respiratory infections, Anisocyto... OMIM:618278
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Shigellosis
Acute colitis, Failure to thrive in infancy, Pneumonia, Anorexia, Intestinal perforation, Myocard... ORPHA:810
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Anemia OMIM:619377
Trichohepatoenteric Syndrome 2
Villous atrophy, Depressed nasal bridge, Wide nasal bridge, Colitis, Intrauterine growth retardation OMIM:614602
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Wide nose, Skin rash, Eosinophilia, Persistence of primary te... OMIM:147060
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... OMIM:619573
Plummer-Vinson Syndrome
Tongue atrophy, Geophagia, Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Esop... ORPHA:54028
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Purpura, Epistaxis, Abnormality of neutrophils, M... ORPHA:33226
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Anal atresia, Short stature, Edema, Underdeveloped nasal alae, Malabso... ORPHA:2315
Glycogen Storage Disease Vii
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis OMIM:232800
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Villous atrophy, Duodenitis, Perioral erythema OMIM:614328
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Short stature, Micrognathia, Cryptorch... ORPHA:1695
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hepatitis, In... OMIM:194380
Sepsis In Premature Infants
Abnormal mucociliary clearance, Edema, Gastrointestinal dysmotility, Pallor, Neutropenia, Meningi... ORPHA:90051
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... OMIM:193670
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Polyhydramnios, Micrognathia, Neonatal death, Anteverted nares, Noni... OMIM:608013
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Splenomegaly, Mediastinal lymphadenopathy, Vasculitis, Skin ulcer, G... ORPHA:91138
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Polyhydramnios, Round ear ORPHA:1450
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Restlessness, Sensorineural hearing impairment, Short nose, Failure to thrive OMIM:618379
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Frontal bossing, Villous atrophy, Wide nose, Anteverted nares, Increased me... OMIM:222470
Ciliary Dyskinesia, Primary, 37
Female infertility, Hearing impairment, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Chronic Hiccup
Abnormal eating behavior, Dehydration, Weight loss ORPHA:396
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodie... OMIM:607594
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Transient Neonatal Diabetes Mellitus
Small for gestational age, Dehydration, Macroglossia, Umbilical hernia, Intrauterine growth retar... ORPHA:99886
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Abnormal intestine morphology, Dermal atrophy, Papule ORPHA:525
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia, Menorrhagia, Thrombocytopenia OMIM:616176
Deafness, Conductive, With Malformed External Ear
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... OMIM:221300
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Lymphedema, Biliary tract neoplasm, Dyspnea, Bronchi... ORPHA:662
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... ORPHA:1959
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Nonspherocy... OMIM:235700
Carboxypeptidase N Deficiency
Angioedema, Allergic rhinitis OMIM:212070
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Protruding tongue, Malabsorption,... OMIM:242860
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Frontal bossing, Numerous nevi, Depressed nasal bridge, Hurthle cell thyroi... ORPHA:210548
Potocki-Shaffer Syndrome
Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Micrognathia, Depressed nasal... ORPHA:52022
Acute Radiation Syndrome
Skin ulcer, Telangiectasia, Scaling skin, Granulocytopenia, Dermal atrophy, Hypotension, Lymphope... ORPHA:454831
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Graves disease, Skin u... ORPHA:542643
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Petechiae, Short stature, Cry... OMIM:617053
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Craniosynostosis, Wide nasal bridge, Skin ulcer, Cleft palate, Skin vesicle, Papule ORPHA:2314
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... OMIM:600955
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Anemia, Lymphaden... OMIM:613101
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Intestinal perforation, Pancreatitis, Leukocytosis, Schistocytosi... ORPHA:90038
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Familial Cold Autoinflammatory Syndrome 3
Recurrent sinopulmonary infections, Allergic rhinitis, Asthma, Angioedema, Onychomycosis, Erythem... OMIM:614468
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Choanal ... ORPHA:92050
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Subcutaneous nodule, Tracheoesophageal fistula,... ORPHA:2591
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypopigmented skin patches, Skin ulcer, Gastroesophageal reflux, Dysp... ORPHA:220402
Diamond-Blackfan Anemia
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Pallor, Neutrope... ORPHA:124
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Intellectual Developmental Disorder, X-Linked 91
Short nose, High palate, Obesity OMIM:300577
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... OMIM:619381
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... OMIM:300048
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Short stature, Micrognathia, Recurrent pneumonia, Protruding ear, Growth delay, Gastroesophageal ... ORPHA:1495
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Short stature, Small for gestational age, Attention deficit hyperactivity disorder OMIM:245570
Acquired Purpura Fulminans
Macule, Erythematous macule, Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpur... ORPHA:49566
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Pericarditis, Hypergonadotropic hypogonadism, Depressed nasal bridge, Premature ... OMIM:212065
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Recurrent bacterial skin infections, Nonimmune ... ORPHA:79277
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... OMIM:616740
Paroxysmal Hemicrania
Restless legs, Palpebral edema, Focal sensory seizure with olfactory features, Rhinitis, Rhinorrhea ORPHA:157835
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:2869
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... ORPHA:300298
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Failure to thrive, Recurrent bronchiol... OMIM:616069
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Depressed nasal bridge, Splenomegaly, Decreased proportion of CD8-positive, alpha-b... OMIM:619824
Chung-Jansen Syndrome
Anteverted nares, Impulsivity, Aggressive behavior, Micrognathia, Cryptorchidism, Obesity, Large ... OMIM:617991
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Beta-Ketothiolase Deficiency
Edema, Anorexia, Leukocytosis, Tachypnea, Dehydration, Weight loss, Agitation, Oral aversion, Pal... ORPHA:134
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Ascites,... ORPHA:295
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... ORPHA:98850
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Anemia, Protein-losing enteropathy, Neonatal death, Decreased circulating T4 conc... OMIM:608104
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Intrauterine growth retardation, Dehydration OMIM:601410
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Steatorrhea, Protein-losing enteropathy, Hyperinsulinemic hypoglycemia, Lymphang... OMIM:602579
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Micrognathia, Splenomegaly, Depressed nasal ridge, Respiratory insufficiency, Asc... ORPHA:1046
Hurler Syndrome
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Short stature, Spleno... ORPHA:93473
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... ORPHA:98826
Acitretin/Etretinate Embryopathy
Anteverted nares, Hypoplastic nasal septum, Hypoplasia of the thymus, High palate, Bradycardia, T... ORPHA:40366
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Raynaud phenomenon, Erythema, Subcutaneo... ORPHA:767
Cystic Fibrosis
Male infertility, Nasal polyposis, Meconium ileus, Reduced forced expiratory volume in one second... OMIM:219700
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis,... OMIM:618963
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Short nose, Anteverted nares, Short stature ORPHA:1355
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Small for gestational age, Hearing impairment, Micrognathia, Dehydration, L... OMIM:208085
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor, Anorexia ORPHA:79283
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atr... ORPHA:436252
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis... OMIM:240500
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Dehydration, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Failure... OMIM:251000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Depressed nasal bridge, Cryptorchidism, Recurrent infections, Low-set ears, Conductive hearing im... OMIM:616910
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, T lymphocytopenia, Inflammation of the large intestine, B lymphocyto... OMIM:618108
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia OMIM:614082
Acrocephalopolydactyly
Short nose, Microtia, Depressed nasal ridge, Hepatosplenomegaly ORPHA:221054
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Harlequin Ichthyosis
Recurrent respiratory infections, Hearing abnormality, Depressed nasal ridge, Dehydration, Respir... ORPHA:457
C1Q Deficiency 2
Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Bronchiectasis, Sepsis, Facial er... OMIM:620321
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Splenomegaly, Growth delay, P... ORPHA:667
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Trigonocephaly, Preauricular skin tag, ... OMIM:190440
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Convex nasal ridge ORPHA:2522
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia, Dehydration OMIM:243500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Anteverted nares, Posteriorly rotated ears, Short stature, Micrognathia, Bulbous nose, Wide nasal... OMIM:613604
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Abnormality of the subling... ORPHA:79493
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... ORPHA:397596
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Apnea, Edema, Anorexia, Leukocytosis, Tachypnea, Dehydration, Weight loss, Le... ORPHA:20
Dracunculiasis
Recurrent cutaneous abscess formation, Subcutaneous nodule, Skin ulcer ORPHA:231
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Short stature, Eczema, Rhizomelia, Anemia, Leukopenia, Low-set ... OMIM:618116
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Telangiectasia of the skin, Malabsorption, Congestive heart failure, Xerostomia, Ski... ORPHA:220393
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ... OMIM:612692
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia ORPHA:2290
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis OMIM:616649
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal polyposis, Adenomato... ORPHA:329971
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Thromboc... OMIM:251110
Acute Promyelocytic Leukemia
Pancytopenia, Purpura, Metrorrhagia, Epistaxis, Anorexia, Productive cough, Chronic infection, Pe... ORPHA:520
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac disease, Splen... OMIM:619375
Wolcott-Rallison Syndrome
Short stature, Neutropenia, Dehydration, Recurrent infections, Growth delay, Iron deficiency anem... ORPHA:1667
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Short stature, Growth delay, Short nose, Macrotia ORPHA:438178
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Choanal atresia, Short stature... OMIM:613309
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Low-set ears ORPHA:46
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng... ORPHA:3392
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Amenorrhea, Cardiomyopathy, Impotence, Neutropenia, Lymphopenia, A... OMIM:604250
Poikiloderma With Neutropenia
Depressed nasal bridge, Skin rash, Edema, Underdeveloped nasal alae, Micrognathia, Splenomegaly, ... OMIM:604173
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Skin ulcer OMIM:116920
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Hemophagocytosis, Erythematous papule ORPHA:86884
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Acute lymphoblastic leukemia, Recurrent bacterial infections, N... OMIM:610738
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent shingles, Recurrent upper respiratory tract infections, R... OMIM:615518
Spherocytosis, Type 4
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:612653
Clark-Baraitser Syndrome
Hyperactivity, Depressed nasal bridge, Anteverted nares, Aggressive behavior, Obesity, Large earl... OMIM:617752
Ige Responsiveness, Atopic
Asthma, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Pericar... ORPHA:900
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Calvarial skull defect, Congenital loc... ORPHA:1114
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of ... ORPHA:3261
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Recurrent viral infect... OMIM:618048
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Short stature, Recurrent viral infections, Esophageal stric... OMIM:615468
Lamellar Ichthyosis
Recurrent respiratory infections, Short stature, Sepsis, Dehydration, Lack of skin elasticity, Ab... ORPHA:313
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Subcutaneou... ORPHA:2176
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia OMIM:613839
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Recurrent skin infections, Broad nasal tip, Overweight, Repetitive compuls... ORPHA:391372
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple... ORPHA:2072
Acrogeria
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Skin ulcer, Excessive wrinkled skin, ... ORPHA:2500
Lig4 Syndrome
Pancytopenia, Telangiectasia of the skin, Malabsorption, Cryptorchidism, Leukocytosis, Erythema, ... ORPHA:99812
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Se... ORPHA:95455
Macrocephaly/Autism Syndrome
Depressed nasal bridge, Large for gestational age, Splenomegaly, Obesity, Recurrent infections, H... OMIM:605309
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Crackles, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restrictive ve... ORPHA:99931
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Fat malabsorption, Steatorrhea ORPHA:309108
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Neonatal respiratory distress, Depressed nasal bridge, Anteve... OMIM:619005
Werner Syndrome
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Myocardial infarction, Congestive hea... ORPHA:902
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... ORPHA:811
Scheie Syndrome
Splenomegaly, Sensorineural hearing impairment, Rhinitis ORPHA:93474
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Abn... ORPHA:949
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Wheezing, Recu... ORPHA:171876
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Chronic oral candidiasis, ... ORPHA:276
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Short stature, Broad nasal tip, Cryptorchidism, Large fleshy... OMIM:602342
Spherocytosis, Type 1
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis OMIM:182900
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Thrombocytopenia, Spleno... OMIM:607616
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Rhizomelia, Hearing abno... ORPHA:1842
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... OMIM:614470
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Anteverted nares, Prominent nasal bridge, Short stature, Aggressive ... OMIM:300558
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Chronic infection, Leukoc... ORPHA:86839
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Familial Cold Urticaria
Sensorineural hearing impairment, Erythema, Dehydration, Arthritis, Conjunctivitis, Polydipsia ORPHA:47045
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Neutropenia, Trigonocephaly, Intrauterin... OMIM:616395
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Stomatitis, Thro... OMIM:246400
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node germinal cent... ORPHA:79124
Rhiny
Short nose, Anteverted nares OMIM:180360
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Short stature, Malabsorption, Asthma, Dehydr... ORPHA:634
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Posteriorly rotated ears, Decreased CD4... OMIM:608233
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose OMIM:155050
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Slender nose, Micrognathia, Postnatal growth retardation, Cryptorchidism, Gastroesophageal reflux... OMIM:615419
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Esophageal Atresia
Respiratory distress, Polyhydramnios, Gastrointestinal dysmotility, Anorectal anomaly, Abnormalit... ORPHA:1199
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Junctional Epidermolysis Bullosa Inversa
Localized skin lesion, Gastrointestinal inflammation, Atrophic scars, Keloids, Milia, Anemia ORPHA:79405
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short nose, Short stature ORPHA:2370
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Immunodeficiency 36 With Lymphoproliferation
Short stature, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections... OMIM:616005
Familial Benign Copper Deficiency
Short stature, Acne, Wide nasal bridge, Anemia ORPHA:1551
Immunodeficiency, Common Variable, 13
Pancytopenia, Polyhydramnios, Acute lymphoblastic leukemia, Recurrent bacterial infections, B lym... OMIM:616873
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia OMIM:608068
Free Sialic Acid Storage Disease
Splenomegaly, Skin ulcer ORPHA:834
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, Recurrent bact... OMIM:613496
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly,... OMIM:226990
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Att... OMIM:620292
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Thromboc... OMIM:251100
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Depressed nasal ridge, Conductive... ORPHA:99843
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Depressed nasal bridge, Splenomegaly, Erythema, Depressed nasal r... ORPHA:742
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Frontal bossing, Depressed nasal bridge, High, na... ORPHA:79076
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Hypopnea, Leukopenia, Hepatic... ORPHA:2330
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Icf Syndrome
Depressed nasal bridge, Abnormality of neutrophils, Malabsorption, Protruding tongue, Macroglossi... ORPHA:2268
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, High palate, Short nose ORPHA:261120
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Increased body mass index, Increased body weight, Growth delay, Macrog... OMIM:614450
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Recurrent respiratory infections, Depressed nasal bridge, Xerostomia, Rhinitis, Periorbital wrink... OMIM:614941
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Solitary Rectal Ulcer Syndrome
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia, Anemia ORPHA:209964
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Erythema, Skin ulcer ORPHA:2337
Pearson Syndrome
Reticulocytosis, Pancytopenia, Median cleft lip and palate, Small for gestational age, Postnatal ... ORPHA:699
Immunodeficiency 70
Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-posi... OMIM:618969
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... ORPHA:2688
Schimke Immuno-Osseous Dysplasia
Depressed nasal bridge, Hypermelanotic macule, Abnormality of thyroid physiology, Broad nasal tip... ORPHA:1830
Rhabdoid Tumor
Subcutaneous nodule, Lymphadenopathy, Anemia, Neoplasm of the liver, Hypertension, Internal hemor... ORPHA:69077
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Chronic active hepatiti... OMIM:240300
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Bifid nasal tip, Depressed nasal ridge,... OMIM:616854
Chilblain Lupus 1
Raynaud phenomenon, Skin ulcer OMIM:610448
Recon Progeroid Syndrome
Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ... OMIM:620370
Systemic Sclerosis
Intestinal bleeding, Gastroesophageal reflux, Acral ulceration, Abnormal small intestine morpholo... ORPHA:90291
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Glossoptosis, High palate, Conductive hearing impairment, Anteverted nares, Short s... OMIM:611209
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombo... OMIM:274150
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Congenital Toxoplasmosis
Failure to thrive in infancy, Anemia, Intrauterine growth retardation, Ascites, Thrombocytopenia,... ORPHA:858
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Micrognathia, Depressed nasal ri... OMIM:105650
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Recurrent herpes, Petechiae, Eczema, Recurrent bronchitis, Proportionate short stat... OMIM:620331
Wolman Disease
Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adrenal insufficie... ORPHA:75233
Fumarase Deficiency
Failure to thrive, Necrotizing enterocolitis, Anteverted nares, Depressed nasal bridge, Polyhydra... OMIM:606812
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Gastrointestinal inflammation, Atrophic scars, Keloids, Milia, Anemia ORPHA:79406
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer ORPHA:31112
Central Diabetes Insipidus
Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive ORPHA:178029
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Baker-Gordon Syndrome
Self-injurious behavior, Gastroesophageal reflux, Prominent nasal tip, Short nose, Abnormal repet... OMIM:618218
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Pneumocystis carinii pneumonia, Splenomegaly, Hepatit... OMIM:308230
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Sensorineural hearing impairment, Recurrent bacterial infections, Eczemato... OMIM:619693
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Recurrent infections, Anemia, Neutropenia, Ecchymosis... ORPHA:88
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... OMIM:209950
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Peho-Like Syndrome
Short nose, Retrognathia, Edema OMIM:617507
Perlman Syndrome
Anteverted nares, Posteriorly rotated ears, Micrognathia, High, narrow palate, Cryptorchidism, Wi... ORPHA:2849
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Redundant skin, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Wide nas... OMIM:613177
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Micrognathia, Dehydration, Protruding ear, Gastroesophageal reflux, Period... ORPHA:534
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Anemia, Hear... ORPHA:2325
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Depressed nasal bridge, Edema, Pericardial effusion, Hepatosplenomegaly, Low-s... OMIM:608776
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Hypoplasia of the maxilla, Depressed nasal ridge, ... ORPHA:1248
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic... OMIM:227650
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Cleft palate, Hydrocele testis, Neutropenia, Congenital thrombocytopenia, Anemia OMIM:616738
Panhypophysitis
Chronic lymphocytic meningitis, Decreased female libido, Sensorineural hearing impairment, Normoc... ORPHA:95513
Chromosome 6Q11-Q14 Deletion Syndrome
Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Micrognathia, H... OMIM:613544
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Thick nasal alae, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Retrognathia, Apnei... ORPHA:163961
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Pallor, Neutropenia, Decreased pr... ORPHA:101096
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose OMIM:125700
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Gastroesophageal reflux, Skin ulcer ORPHA:36386
Burn-Mckeown Syndrome
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia ORPHA:1200
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Cinca Syndrome
Skin rash, Eosinophilia, Lymphedema, Leukocytosis, Uveitis, Hepatosplenomegaly, Growth delay, Art... OMIM:607115
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... OMIM:601495
Erythrocytosis, Familial, 1
Splenomegaly, Vertigo, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit,... OMIM:133100
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections, Thrombocytopen... OMIM:612783
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Protruding ear, Gastroesophageal reflux, Recurrent aspiration pneumon... ORPHA:221139
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Edema, Periorbital edema, Splenomegaly, Dyspnea, Myocarditis, P... ORPHA:3386
Peroxisome Biogenesis Disorder 2A (Zellweger)
Turricephaly, Cryptorchidism, Cleft palate, Hypoplasia of the thymus, Dolichocephaly, Intrauterin... OMIM:214110
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Intellectual Disability-Strabismus Syndrome
Hyperactivity, Depressed nasal bridge, Short stature, Narrow nasal ridge, Polyhydramnios, Promine... ORPHA:363528
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous polyposis, Colo... ORPHA:2930
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Dehydration, Decreased intestinal transit time, Ste... OMIM:615237
Cebalid Syndrome
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna morphology, De... OMIM:618774
Familial Renal Glucosuria
Moderate postnatal growth retardation, Recurrent urinary tract infections, Elevated hemoglobin A1... ORPHA:69076
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Carious teeth, Birth length less than 3rd percentile, Recurrent bact... OMIM:244460
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Pallor, Cough, Neutrophilia, Leuk... ORPHA:3260
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... OMIM:250250
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Cholelithiasis ORPHA:567983
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia, Steatorrhea OMIM:618752
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Calvarial skull defect, Skin ulcer ORPHA:1117
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short sta... OMIM:600901
Papa Syndrome
Type I diabetes mellitus, Skin ulcer, Crohn's disease, Lymphadenopathy ORPHA:69126
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Gastrointestinal inflammation, Atrophic scars, Aplasia cutis congenita, Milia, Anemia ORPHA:79411
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Reynolds Syndrome
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Skin ulcer, Gastroeso... ORPHA:779
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Subcutaneous nodule, Skin ulcer, Granulom... ORPHA:228119
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short stature, Eczema, Thrombocytopenia, Recurrent upper respiratory t... ORPHA:508542
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor ORPHA:56425
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:620296
Alg9-Cdg
Frontal bossing, Villous atrophy, Tricuspid regurgitation, Depressed nasal bridge, Convex nasal r... ORPHA:79328
Rosaï-Dorfman Disease
Erythema, Subcutaneous nodule, Lymphadenopathy, Anemia, Papule ORPHA:158014
Marburg Hemorrhagic Fever
Anorexia, Nonproductive cough, Odynophagia, Dehydration, Uveitis, Leukopenia, Abnormal lymphocyte... ORPHA:99826
Adenohypophysitis
Chronic lymphocytic meningitis, Decreased female libido, Sensorineural hearing impairment, Normoc... ORPHA:95512
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Overfriendliness, Hyperactivity, Restlessness, Depressed nasal bridge, Sho... ORPHA:369891
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer, Splenomegaly... ORPHA:98849
Non-Functioning Pituitary Adenoma
Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... ORPHA:91349
Schnitzler Syndrome
Macule, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia, Papule ORPHA:37748
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Recurrent lower respiratory tra... OMIM:226300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Celiac disease, Recurrent upper respira... OMIM:615952
Primary Sjögren Syndrome
Normocytic anemia, Raynaud phenomenon, Thrombocytopenia, Vasculitis, Xerostomia, Thyroiditis, Ski... ORPHA:289390
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Short stature, Underdeveloped nasal alae, Micrognathia, Cryptorchidism, Macroti... OMIM:613026
Hajdu-Cheney Syndrome
Wide nose, Anteverted nares, Intestinal malrotation, Mitral stenosis, Dolichocephaly, Splenomegal... ORPHA:955
Dermatomyositis
Pericarditis, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Telangiectasia of t... ORPHA:221
Craniosynostosis, Herrmann-Opitz Type
Short stature, Micrognathia, Cleft palate, Abnormal antihelix morphology, Microtia, Intrauterine ... ORPHA:2145
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu... OMIM:102700
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Pallor, Exertional dyspnea ORPHA:90036
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Micrognathia, Bilateral conductive hearing impairment, Low-s... OMIM:617802
Cyclic Vomiting Syndrome
Anorexia, Gastrointestinal dysmotility, Growth delay, Pallor, Attention deficit hyperactivity dis... OMIM:500007
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Protru... OMIM:301040
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Dyspnea, Vertigo, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Vipoma
Anorexia, Malabsorption, Respiratory insufficiency due to muscle weakness, Erythema, Dehydration,... ORPHA:97282
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Ecchymosis, Leu... ORPHA:96253
17P13.3 Microduplication Syndrome
Low-set ears, Wide nose, High palate, Short nose ORPHA:217385
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cryptorchidism, Intrauterine growth retardation, Anemia, Oligohydramnios OMIM:620135
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal septum, Hea... OMIM:302950
Pelger-Huet Anomaly
Frontal bossing, Depressed nasal bridge, Abnormality of neutrophils, Hyposegmentation of neutroph... OMIM:169400
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Polyhydramnios, Neonatal asphyxia, Asthma, Erythroderma OMIM:608649
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Gro... ORPHA:79282
Sheehan Syndrome
Dyspareunia, Chronic lymphocytic meningitis, Decreased female libido, Vertigo, Sensorineural hear... ORPHA:91355
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Depressed nasal bridge, Antevert... OMIM:610015
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dehydration ORPHA:289504
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ... ORPHA:85451
14Q24.1Q24.3 Microdeletion Syndrome
Prominent nasal bridge, Intestinal malrotation, Cryptorchidism, Wide nasal bridge, Short nose, Mi... ORPHA:401935
Smith-Kingsmore Syndrome
Depressed nasal bridge, Rhizomelia, Large for gestational age, Cryptorchidism, Umbilical hernia, ... OMIM:616638
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, E... ORPHA:79404
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils ORPHA:111
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Polyhydramnios, Wide nasal bridge, Retrognathia, High palate, Neutropenia, Recurre... OMIM:618005
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... OMIM:619705
Phosphoribosylaminoimidazole Carboxylase Deficiency
Depressed nasal bridge, Anteverted nares, Choanal atresia, Polyhydramnios, Bilateral cryptorchidi... OMIM:619859
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Aplasia cutis congenita, Milia, Anemia ORPHA:79402
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Retinal hemorrhage, Gran... OMIM:608710
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Obesity, Short columella,... ORPHA:171839
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Gastrointestinal inflammation, Atypical scarring of skin, Er... ORPHA:79410
Buerger Disease
Vasculitis, Skin ulcer ORPHA:36258
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Subcutaneous nodu... ORPHA:727
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, R... ORPHA:397
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Miller-Dieker Syndrome
Growth delay, Short nose, Anteverted nares, Polyhydramnios ORPHA:531
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Edema, Hydrops fetalis, Cut... ORPHA:79325
Lathosterolosis
Anteverted nares, Micrognathia, Bulbous nose, Meningocele, Anisopoikilocytosis, Abnormal platelet... ORPHA:46059
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Deeah Syndrome
Decreased hemoglobin concentration, Neonatal respiratory distress, Short stature, Polyhydramnios,... OMIM:619004
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Hypoplasia of the t... OMIM:617666
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Posteriorly rotated ears, Anteverted nares, Delayed eruption of permanent teeth, Low-set ears, Sh... OMIM:618506
16P12.1P12.3 Triplication Syndrome
Nail-biting, Hyperactivity, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, Retrogna... ORPHA:485405
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Redundant neck skin, Flat occiput, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangi... OMIM:235255
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Facial Paresis, Hereditary Congenital, 3
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Sensorineural h... OMIM:614744
Treacher-Collins Syndrome
Frontal bossing, Choanal atresia, Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Wide n... ORPHA:861
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Anteverted nares, Choanal atresia, Myelomeningocele, Respiratory insuffic... ORPHA:1914
Down Syndrome
Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of the lymphatic sy... ORPHA:870
Mucopolysaccharidosis Type 3
Adenoiditis, Otitis media, Aspiration pneumonia, Thickened helices, Conductive hearing impairment... ORPHA:581
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Edema, Intestinal perforation, Dyspnea... ORPHA:544482
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Hypoplasia of th... OMIM:305100
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Pericardial effusion, Splenomegaly, Angioedema, Sensorineural hearing im... ORPHA:36412
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Immunodeficiency 20
Recurrent viral upper respiratory tract infections, Reduced natural killer cell count, Recurrent ... OMIM:615707
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short sta... OMIM:227645
22Q11.2 Deletion Syndrome
Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Hypothyroidism, Hypoparathy... ORPHA:567
Diamond-Blackfan Anemia 5
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Low-set ears OMIM:612528
Transaldolase Deficiency
Edema, Hydrops fetalis, Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Prema... ORPHA:101028
Bainbridge-Ropers Syndrome
Polyhydramnios, Micrognathia, Choanal stenosis, High palate, Gastroesophageal reflux, Abnormal re... OMIM:615485
Wilson Disease
Aggressive behavior, Abnormality of the menstrual cycle, Splenomegaly, Hypersexuality, Increased ... ORPHA:905
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Pustule, Tachypnea, Erythema,... OMIM:615934
Whim Syndrome
Abnormal small intestine morphology, Lymphadenitis, Recurrent upper respiratory tract infections,... ORPHA:51636
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura ORPHA:743
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Short stature, Carious teeth, Keratitis, Enamel hypoplasia, Puncta... OMIM:226670
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hyperactivity, Impulsivity, Uplifted earlobe, Macroorchidism, Short nose OMIM:300143
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Hypoplasia of the maxilla, Sensori... ORPHA:1529
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Short stature, Underdeveloped nasal alae, Dental malocc... OMIM:617883
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Pulmonary embolism, Abnormal ... ORPHA:447
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Hypoxemia, Increased hematocrit, Ascites, Polycyt... ORPHA:284227
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel... ORPHA:158061
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Truncal obesity, Short nose ORPHA:2429
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Acute lymphoblastic leukemia... OMIM:208900
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Mandibular prognathia, Depressed nasal bridg... ORPHA:1327
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Exertional dyspnea ORPHA:90037
Muckle-Wells Syndrome
Episcleritis, Skin rash, Short stature, Abnormality of the nose, Splenomegaly, Uveitis, Restricti... ORPHA:575
Familial Multiple Nevi Flammei
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Intracranial hemorrhage, Nevus flammeus, A... ORPHA:624
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Depressed nasal bridge, Splenomegaly, Asthma, Hepatosple... OMIM:606003
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Hyperactivity, Depressed nasal bridge, Anteverted nares, Cryptorchidism, O... OMIM:614613
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Broad nasal tip, Wide nasal bridge, Cleft palate, Growth delay, Large earlobe, Bruxism, Short nose OMIM:615716
Cystinosis
Short stature, Malabsorption, Dehydration, Delayed puberty, Polydipsia, Failure to thrive, Abnorm... ORPHA:213
Oculoskeletodental Syndrome
Cryptorchidism, Splenomegaly, Wide nasal bridge, Lacunar stroke, Macroglossia, Protein-losing ent... OMIM:618440
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Respiratory insufficiency due to muscle weakness, Sensorineural ... ORPHA:18
Omenn Syndrome
Failure to thrive, Eosinophilia, Edema, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsi... ORPHA:39041
Chédiak-Higashi Syndrome
Edema, Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, A... ORPHA:167
Malakoplakia
Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Subcutaneous nodule, Skin u... ORPHA:556
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Posteriorly rotated ears, Polyhydramnios, Aggressive behavior, Micrognath... OMIM:619833
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Depressed nasal bridge, Anteverted nares, Lobulated tongue, Low-set ears, Short nose, Abnormal re... OMIM:613443
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Peripheral Cone Dystrophy
Pallor OMIM:609021
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Recurrent upper r... OMIM:602450
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Short stature, Delayed puberty, Anemia, Irreg... ORPHA:79259
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Restlessness, Respiratory distress, Edema of the dorsum of feet, Edema of th... ORPHA:544503
Acrodermatitis Enteropathica
Malabsorption, Erythema, Skin ulcer, Furrowed tongue, Dry skin, Glossitis ORPHA:37
Blau Syndrome
Pericarditis, Splenomegaly, Erythema, Xerostomia, Skin ulcer, Lymphadenopathy, Anemia, Large vess... ORPHA:90340
Abetalipoproteinemia
Reticulocytosis, Acanthocytosis, Keratoconjunctivitis sicca, Respiratory failure, Steatorrhea, Fa... ORPHA:14
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Pallor, Dysphagia OMIM:606353
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive in infancy, Posteriorly rotated ears, Edema, Flu... OMIM:610377
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, High palate, Neutropenia, Lymphopenia, Reduced natu... OMIM:619752
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Nonimmune hydrops ... OMIM:617021
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Depressed nasal bridge, Aggressive behavior, Micrognathia, Bulbous nose, Wide nasal bridge, Retro... OMIM:617061
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Anorexia, Recurrent pharyngitis, Myocarditis, Erythema, Respi... ORPHA:3099
Schimke Immunoosseous Dysplasia
Macule, Pancytopenia, Depressed nasal bridge, Hypermelanotic macule, Transient ischemic attack, B... OMIM:242900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-posit... ORPHA:169154
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Hyperactivity, Anteverted nares, Abnormal pinna morphology, Short stature, Lon... ORPHA:261211
Oculoauriculovertebral Spectrum With Radial Defects
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal... ORPHA:2549
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increased ... ORPHA:90041
Lethal Congenital Contracture Syndrome 10
Narrow palate, Macroglossia, Hypoplasia of the thymus, High palate, Intrauterine growth retardati... OMIM:617022
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Frontal bossing, Short nose, Duodenal stenosis ORPHA:2547
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Depressed nasal bridge, Broad nasal tip, Cleft palate, High palate, At... OMIM:619736
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Carious teeth, Cryptorchidism... ORPHA:2701
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Atr... ORPHA:3236
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... ORPHA:91139
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, Hematochezia, Recurrent bacterial infections, ... OMIM:615895
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Smith-Magenis Syndrome
Mandibular prognathia, Anteverted nares, Failure to thrive in infancy, Depressed nasal bridge, Mi... ORPHA:819
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytopenia, Splenomegaly, ... ORPHA:64743
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Enterocoli... ORPHA:2686
Immunodeficiency 54
Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insufficiency, Intraut... OMIM:609981
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma ORPHA:330064
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Recurrent respiratory infections, Short stature, Cachexia, Short nose ORPHA:1389
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Esophageal varix, Dehydr... ORPHA:275761
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Underfolded helix, Pr... OMIM:618316
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ulcer, Type II diabetes mel... ORPHA:2047
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Mic... ORPHA:1716
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Overfolded helix, High palate, Abnormal helix morphology, L... ORPHA:1913
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Normochromic anemia, Gastroesophageal reflux, Neutropenia, Pulmonary arterial hyp... OMIM:614857
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Splenomegaly... ORPHA:398124
Hemochromatosis, Type 2B
Splenomegaly, Congestive heart failure, Secondary amenorrhea, Cardiomyopathy, Hypogonadism, Anemia OMIM:613313
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Underdeveloped nasal alae, Prominent nose, Sensorineural hearin... ORPHA:2637
Periventricular Nodular Heterotopia 7
Microretrognathia, Anteverted nares, Micrognathia, Cryptorchidism, Sensorineural hearing impairme... OMIM:617201
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia, Pericardial e... OMIM:613011
Fanconi Anemia, Complementation Group I
Short stature, Neutropenia, Pallor, Decreased body weight, Conductive hearing impairment, Intraut... OMIM:609053
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... OMIM:300755
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Short stature, Protruding tongue, Micrognathia, Splenomegaly, Sensorineural hearing im... OMIM:608779
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Localized skin lesion, Gastrointestinal inflammation, Atrophic scars, Milia... ORPHA:79409
Achondrogenesis
Severe short stature, Anteverted nares, Polyhydramnios, Micrognathia, Hydrops fetalis, Umbilical ... ORPHA:932
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Anteverted nares, Polyhydramnios, Posteriorly rotated ears, Micrognath... OMIM:616897
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... ORPHA:85450
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Anemia, Purpura OMIM:614514
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T... OMIM:598500
Optic Atrophy 1
Pallor OMIM:165500
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp... OMIM:263400
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Depressed nasal bridge, Large for gestational age, Anemia, High palate, Neutropenia, Umbilical he... OMIM:614520
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Short sta... OMIM:227646
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Crypto... ORPHA:2083
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Anteverted nares, Failure to thrive in infancy, Short stature, Postnatal growth re... ORPHA:261323
Ohdo Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Cryptorchidism, Wide nasal... OMIM:249620
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Achondrogenesis Type 1B
Severe short stature, Anteverted nares, Polyhydramnios, Micrognathia, Disproportionate short stat... ORPHA:93298
Vici Syndrome
Micrognathia, Recurrent viral infections, Leukopenia, T lymphocytopenia, High palate, Neutropenia... OMIM:242840
Lowry-Maclean Syndrome
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, High,... ORPHA:2409
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Perianal abscess, Iron deficiency anemia, Inflammation of the large intestine,... OMIM:301074
Anti-Glomerular Basement Membrane Disease
Persistence of primary teeth, Respiratory insufficiency, Arthritis, Cough, Anemia, Purpura ORPHA:375
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Congenital Heart Block
Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Intrauterine growth re... ORPHA:60041
Incontinentia Pigmenti
Telangiectasia of the skin, Eosinophilia, Supernumerary nipple, Congestive heart failure, Erythem... ORPHA:464
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Failure to thrive, Bilateral sensorineural hearing impairment, Dehydration OMIM:602722
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia, Hearing impairment OMIM:616435
Spondyloepiphyseal Dysplasia, Nishimura Type
Recurrent respiratory infections, Osteoarthritis, Disproportionate short-limb short stature, Shor... OMIM:618618
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Hyperactivity, Depressed nasal bridge, Anteverted nares, Prominent nasal b... OMIM:300912
Cinca Syndrome
Purpura, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Sensorineural hearing imp... ORPHA:1451
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re... OMIM:613779
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Gout, Recurrent infections, Neutropenia, Intrauterine growth retardation, Anemia OMIM:617056
Hypotrichosis Simplex Of The Scalp
Scaling skin, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagi... OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Prominent nose, Micrognathia, Depressed nasal ridge, Protruding ear, Gastr... OMIM:156200
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Redundant neck skin, Flat occiput, Broad nasal tip, Cryptorchidism, Pancreatic lymphangiectasis, ... ORPHA:1655
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Periorbital edema, Leukocytosis, Weight loss, Progressive hea... ORPHA:514
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Depressed nasal bridge, Small for gestational age, Anteverted nares, Posteriorly rotat... OMIM:257300
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Small for gestational age, Allergic rhinitis, Short stature, Rec... OMIM:176690
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Aggressive behavior, Celiac di... ORPHA:284169
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Depressed nasal bridge, Tongue thrusting, Pica, Stereotypical body rocking, Gastro... OMIM:617865
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Sepsis, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Depressed nasal bridge, Palpebral edema, Bulbous nose, Protruding ear, Gro... ORPHA:261144
Trisomy 8P
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Cryptorchidism, Recurrent upp... ORPHA:264450
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Splenomegaly, Lymphadenopathy, Anemia, Colitis, Hemophagocytosis, Neutropenia, Ecchymo... ORPHA:540
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Branchiootic Syndrome
Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality of the inner ear, ... ORPHA:52429
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Depressed nasal bridge, Postnatal growth retardation, Cryptorchidism, Low-set ears, Intrauterine ... OMIM:614732
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Cholelithiasis, Fat malabsorption, Epistaxis OMIM:211600
Oculocerebral Hypopigmentation Syndrome, Cross Type
Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Sensorineural hearing im... ORPHA:2719
Griscelli Syndrome
Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Hypopigmented skin patches, Lymphaden... ORPHA:381
Chylomicron Retention Disease
Acanthocytosis, Fat malabsorption, Steatorrhea ORPHA:71
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Respiratory insufficiency, Low-set ears, Short n... ORPHA:1895
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Agitation, Pallor, Polyphagia ORPHA:324575
Acromicric Dysplasia
Bulbous nose, Severe short stature, Anteverted nares, Short nose ORPHA:969
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Depressed nasal bridge, Posteriorly rotated ears, Aggressive behavior, Bulbous nos... OMIM:618430
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm ... ORPHA:424016
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Attention deficit hyperactivity disord... OMIM:619151
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Subarachnoid hemorrhage, Malabsorption OMIM:277175
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Wide nose, Anteverted nares, Small for gestational age, Proportionate short stature, Micrognathia... ORPHA:391408
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Desmosterolosis
Low-set, posteriorly rotated ears, Severe short stature, Depressed nasal bridge, Intestinal malro... ORPHA:35107
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Cupped ear... OMIM:613870
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Autosomal Recessive Omodysplasia
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Rhizomelia, Cry... ORPHA:93329
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Pallor ORPHA:71518
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe... ORPHA:846
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Self... OMIM:618828
Potocki-Shaffer Syndrome
Short nose, Wide nasal bridge, Underdeveloped nasal alae OMIM:601224
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Cachexia, Malabsorption, Anorexia, Splenomeg... ORPHA:3452
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Priapism, Hypoxemia, Recurrent ... OMIM:603903
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Wide nasal bridge, Anemia, Neutropenia OMIM:618067
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Pallor, Exertional dyspnea ORPHA:90033
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngitis, Vasculitis, Lymphadenopathy, ... OMIM:308240
Neuroleptic Malignant Syndrome
Pulmonary embolism, Leukocytosis, Sepsis, Dehydration, Agitation, Aspiration pneumonia, Dysphagia... ORPHA:94093
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Biparietal narrowing, Lymphopenia, Anemia ORPHA:935
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... OMIM:609166
Kikuchi-Fujimoto Disease
Erythematous macule, Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Papule,... ORPHA:50918
Immunodeficiency 22
Pericarditis, Recurrent upper respiratory tract infections, Anemia, Ascites, Panniculitis, Chroni... OMIM:615758
Verheij Syndrome
Branchial cyst, Anteverted nares, Small for gestational age, Short stature, Broad nasal tip, Wide... OMIM:615583
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... OMIM:614742
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Ogden Syndrome
Redundant neck skin, Apnea, Redundant skin, Lymphedema, Micrognathia, Protruding ear, Iron defici... OMIM:300855
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Frontal bossing, Epidermoid cyst, Decreased response to growth hormone stim... OMIM:614114
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Short stature, Small for gestational age, Stereotypical hand wringing ORPHA:289266
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Asthma, Retrogna... OMIM:601675
Lateral Meningocele Syndrome
Posteriorly rotated ears, Short stature, Abnormality of the middle ear ossicles, Micrognathia, Cr... OMIM:130720
Chime Syndrome
Erythema, Depressed nasal ridge, Brachycephaly, Skin ulcer, Cleft palate, Acute leukemia ORPHA:3474
Meier-Gorlin Syndrome 6
Depressed nasal ridge, Gastroesophageal reflux, Conductive hearing impairment, Emphysema, Microre... OMIM:616835
Achondrogenesis Type 1A
Severe short stature, Anteverted nares, Polyhydramnios, Micrognathia, Hydrops fetalis, Umbilical ... ORPHA:93299
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Severe temper tantrums, Anteverted nares, Obesity, Short nose, Stereotypical hand wringing OMIM:619854
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Agitation, Increased body weight ORPHA:276608
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Baraitser-Winter Syndrome 1
Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchidism, Sensorineural hear... OMIM:243310
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Depressed nasal ridge, Cleft palate... OMIM:613885
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphadenopathy, Scaling skin, Lymphocyto... ORPHA:79456
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... OMIM:600501
Cholesteryl Ester Storage Disease
Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopen... OMIM:278000
Diamond-Blackfan Anemia 7
Macrocytic anemia, Choanal atresia, Cleft palate, Increased mean corpuscular volume, Esophagitis,... OMIM:612562
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Agitation, Polyphagia, Large for gestational age ORPHA:276556
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Prominent nose, Micrognathia, Cryptorchidism, Postnatal growth ret... ORPHA:96191
Khan-Khan-Katsanis Syndrome
Lymphopenia, Short stature, Micrognathia, Sensorineural hearing impairment, Dysphagia, Neutropeni... OMIM:618460
Alg6-Cdg
Puberty and gonadal disorders, Macroglossia, Protein-losing enteropathy, Increased circulating an... ORPHA:79320
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Aggressive behavior, Micrognathia, Wide nasal bridge, Obesity, Narrow palate, Hypoplasia of teeth... OMIM:620250
Lead Poisoning
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Skin rash, Anorexi... ORPHA:330015
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Severe short stature, Anteverted nares, Small for gestational age, Depressed n... OMIM:615789
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive, Dehydration OMIM:212140
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Anteverted nares, Small for gestational age, Depressed nasal bridge, Short stature, Po... OMIM:613320
Thalidomide Embryopathy
Short stature, Anotia, Chronic rhinitis, Abnormality of the outer ear, Hearing impairment ORPHA:3312
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Short... ORPHA:950
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Small for gestational age, Skin rash, Short stature, Megaloblastic anemia, Tracheoe... OMIM:277380
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... ORPHA:50815
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Atrophic... OMIM:226600
Amoebiasis Due To Free-Living Amoebae
Subcutaneous nodule, Skin ulcer, Granuloma, Abnormality of the adrenal glands, Hyposmia, Arrhythm... ORPHA:68
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Recurrent respiratory infections, Small for gestational age, Polyhydramnio... OMIM:193700
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Intestinal obstruction, Nasal polyposis, Myositis, Eosinophilia,... ORPHA:183
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop... ORPHA:100026
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Short stature, Hearing abnormality,... ORPHA:1912
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Anteverted nares, Postnatal growth retardation, Sensorineural hearing impairment, Low-set ears, I... OMIM:612394
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Depressed nasal bridge, Convex nasal ridge, Micrognathia, Postnatal gro... OMIM:241410
Alg1-Cdg
Abnormality of the gastrointestinal tract, Cardiomyopathy, Protein-losing enteropathy ORPHA:79327
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory t... ORPHA:3078
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Agitation, Polyphagia, Large for gestational age ORPHA:276575
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Micrognathia, Cryptorchidism, Bulbous nose, Growth delay, Anemia, He... OMIM:613951
Microcephaly-Capillary Malformation Syndrome
Wide nose, Small for gestational age, Short stature, Hypoplasia of the maxilla, Cleft palate, Low... OMIM:614261
3C Syndrome
Frontal bossing, Depressed nasal bridge, Intestinal malrotation, Adrenal hypoplasia, High, narrow... ORPHA:7
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Donnai-Barrow Syndrome
Posteriorly rotated ears, Depressed nasal bridge, Intestinal malrotation, Sensorineural hearing i... ORPHA:2143
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Skin ulcer, Chronic otitis media, Emphysema, Chro... OMIM:604571
Palmoplantar Carcinoma, Multiple Self-Healing
Chronic rhinitis OMIM:615225
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ileus, Ovarian neopla... ORPHA:83469
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Vascu... ORPHA:1572
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Agitation, Polyphagia, Large for gestational age ORPHA:276580
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Liver abscess, Lung abscess, Congestive heart failure, Leu... ORPHA:67
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, De... OMIM:248500
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Brachycephaly, Atrophic scars, Mitral regurgitation, High palate, Short nose, Mi... OMIM:615539
Codas Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Abnormal dental enamel morph... ORPHA:1458
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Kleefstra Syndrome
Mandibular prognathia, Gastroesophageal reflux, Thickened helices, Advanced eruption of teeth, Ch... ORPHA:261494
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Ascites, Anemia, Edema OMIM:603278
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Depressed nasal bridge, Posteriorly rotated ears, Abnormal dental enamel m... ORPHA:439822
Distal Deletion 10Q
Prominent nose, Micrognathia, Protruding ear, High palate, Spina bifida occulta, Short stature, W... ORPHA:96148
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Recurrent sinusitis, Transient neutropenia, Absent circulating B cells OMIM:619707
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Narrow nasal bridge, Respiratory distress, Recurrent respiratory infections, Anteverted nares, Wi... OMIM:619383
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypercalcemia, Infantile, 1
Failure to thrive, Dehydration, Weight loss OMIM:143880
Optic Atrophy 7 With Or Without Auditory Neuropathy
Sensorineural hearing impairment, Pallor OMIM:612989
Fanconi Anemia, Complementation Group F
Sacral dimple, Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocyto... OMIM:603467
Immunodeficiency 9
Hypoplasia of the thymus OMIM:612782
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Pancreatic fibrosis, Craniosynostosis, Oxycephaly, Hypoplasia of the small int... OMIM:200995
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Polyhydramnios, Fetal ascites, P... ORPHA:292
Aspergillosis
Eosinophilia, Localized skin lesion, Nasal congestion, Intracranial hemorrhage, Neutropenia, Abno... ORPHA:1163
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Leukopenia, Bone mar... OMIM:613989
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Short ... ORPHA:90653
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Short nose, Hearing impairment OMIM:614078
Tetrasomy 12P
Delayed eruption of teeth, Anteverted nares, Short stature, Cachexia, Abnormal soft palate morpho... ORPHA:884
Acquired Von Willebrand Syndrome
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Metrorrh... ORPHA:99147
Cutis Laxa, Autosomal Recessive, Type Iia
Anteverted nares, Redundant skin, Carious teeth, Cutis laxa, Excessive wrinkled skin, High palate... OMIM:219200
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Pericardial effusion, Dyspnea, Anemia, Malar rash, Serositis, Thrombocyt... ORPHA:231111
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Jacobsen Syndrome
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micrognathia, Pyloric... OMIM:147791
Fetal Valproate Spectrum Disorder
Short nose, Depressed nasal ridge ORPHA:1906
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Wide nose, Frontal bossing, Anteverted nare... ORPHA:109
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Weight loss, Arthritis, Inflammat... ORPHA:324964
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Frontofacionasal Dysplasia
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Subcutaneous nodule, Depressed nasal ri... ORPHA:1791
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Respiratory distress, Apnea, Anorexia, Oral-pharyngeal... ORPHA:2131
8P23.1 Microdeletion Syndrome
Short stature, Prominent nasal bridge, Micrognathia, External ear malformation, Cryptorchidism, W... ORPHA:251071
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchiti... OMIM:300455
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Turricephaly, Telangiectasia of the skin, Erythema, Xe... ORPHA:2907
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Failure to... OMIM:616420
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Eczema, Short stature, Micr... OMIM:617052
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Subdural hemorrhage, Intracranial he... ORPHA:169802
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... OMIM:615866
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Anal atresia, Nevus OMIM:617244
Porphyria Variegata
Tachycardia, Inappropriate antidiuretic hormone secretion, Localized skin lesion, Ileus, Hyperten... ORPHA:79473
Non-Distal Duplication 13Q
Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, ... ORPHA:1702
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Abnormal pattern of respiration ORPHA:833
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Decreased na... OMIM:620197
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Po... ORPHA:3309
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Anteverted nares, Decreased response to growth hormone stimulation test, Craniosyno... OMIM:601853
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Adult Syndrome
Absent nipple, Prominent nasal bridge, Wide nasal bridge, Skin ulcer, Melanocytic nevus, Hypoplas... ORPHA:978
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Splenomegaly, Wide nasal bri... ORPHA:30
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Micrognathia, High palate, Short nose OMIM:615042
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Anteverted nares, Protein-losing enteropathy OMIM:618154
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Failure to thrive, Dehydration OMIM:264350
Chronic Graft Versus Host Disease
Pancytopenia, Esophageal stricture, Erythema, Xerostomia, Intermittent generalized erythematous p... ORPHA:99921
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Dermal atrophy, Bone marrow hypoc... ORPHA:3322
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Short nose, Gastroesophageal reflux ORPHA:85277
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Plague
Tachycardia, Hematemesis, Splenomegaly, Localized skin lesion, Lymphadenitis, Enterocolitis, Skin... ORPHA:707
Aarskog-Scott Syndrome
Anteverted nares, Short stature, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxi... OMIM:305400
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Anteverted nares, Redundant skin, Short stature, Broad nasal tip, Carious te... ORPHA:357074
Enteric Anendocrinosis
Dehydration, Malabsorption ORPHA:83620
Dextrocardia
Abnormal EKG, Intestinal malrotation, Abnormality of the spleen, T-wave inversion, Pancreatic hyp... ORPHA:1666
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Nevus, Skin erosion, Esophageal stricture, Delayed puberty, Di... ORPHA:89842
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Short nose, Posteriorly rotated ears, Short stature OMIM:300887
Immunodeficiency 40
Rectal fistula, Eosinophilic granuloma, T lymphocytopenia, Focal active colitis, Thrombocytopenia OMIM:616433
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Dehydration, Oligozoospermia, Azoospermia, Delayed... OMIM:300200
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Short stature, Micrognathia, Short nose, Spina bifida occulta ORPHA:1514
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Micrognathia, High, narrow pala... ORPHA:2789
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Dehydration, Hearing impairment OMIM:560000
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Jacobsen Syndrome
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Anteverted nares, Intestinal... ORPHA:2308
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Anteverted nares, Choanal atresia, Short stature, Micrognathia, Esophageal ... OMIM:610536
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Impotence, Normochromic anemia, Oligomenorrhea, Pallor ORPHA:95613
Dubowitz Syndrome
Abnormality of neutrophils, Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bif... ORPHA:235
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... ORPHA:263665
Sandifer Syndrome
Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Anemia ORPHA:71272
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Extramedullary hematopoiesis, Steatorrhea ORPHA:79303
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Myositis, Sinusitis, Skin rash, Periorbital edema, Splenomegaly, Recurrent infection... OMIM:617591
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Protein-losing enteropathy, Hyperinsulinemic hy... ORPHA:79319
Myopathic Ehlers-Danlos Syndrome
High, narrow palate, Failure to thrive, Pallor, Micrognathia ORPHA:536516
Spontaneous Periodic Hypothermia
Pallor, Skin rash, Abnormal pattern of respiration ORPHA:29822
Idiopathic Bronchiectasis
Cachexia, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal respiratory sys... ORPHA:60033
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Tachycardia, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Lathosterolosis
Anteverted nares, Increased mean platelet volume, Acanthocytosis, Micrognathia, Myelomeningocele,... OMIM:607330
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... OMIM:260400
Maternal Uniparental Disomy Of Chromosome 4
Acanthocytosis, Abnormal erythrocyte morphology, Type I diabetes mellitus, Fat malabsorption, Dia... ORPHA:96180
Intermediate Osteopetrosis
Osteomyelitis, Chronic infection, Dental malocclusion, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:210110
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Wide nasal bridge,... OMIM:619179
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Absent outer dynein arms, Asthma, Bronchiectas... OMIM:616037
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Depressed nasal bridge, Short stature, Short nos... ORPHA:166272
Gaucher Disease, Type Ii
Apnea, Cough, Splenomegaly, Trismus, Anemia, Stridor, Gastroesophageal reflux, Dysphagia, Bronchi... OMIM:230900
Slc35A1-Cdg
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage ORPHA:238459
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... OMIM:617718
Microphthalmia With Limb Anomalies
Depressed nasal bridge, Posteriorly rotated ears, Unilateral cryptorchidism, Postnatal growth ret... OMIM:206920
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula... OMIM:618165
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Thickened calvaria, Anemia OMIM:618107
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Anteverted nares, Abnormal hemoglobin, Aganglionic megacolon,... ORPHA:847
Trisomy 12P
Short stature, Micrognathia, Wide nasal bridge, Cleft palate, Abnormal antihelix morphology, Low-... ORPHA:1699
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Gastritis, Malabsorption, Autoimmune thrombocytopen... ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia, Hearing impairment OMIM:618838
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Micrognath... OMIM:247200
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Head-banging, Delayed eruption of permanent teeth, Short nose OMIM:619356
Congenital Heart Defects And Skeletal Malformations Syndrome
Frontal bossing, Intestinal malrotation, Narrow nose, Long nose, Cryptorchidism, High palate, Thi... OMIM:617602
Non-Functioning Paraganglioma
Pulsatile tinnitus, Paroxysmal vertigo, Weight loss, Pallor, Conductive hearing impairment ORPHA:94080
Short Stature, Microcephaly, And Endocrine Dysfunction
Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Sensorineural ... OMIM:616541
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Frontal bossing, Anteverted nares, Anterior pituitar... OMIM:613038
Peho Syndrome
Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Short nose, Retrognathia OMIM:260565
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Mixed hearing impairment, Neon... ORPHA:79345
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration, Malabsorption OMIM:606824
Combined Oxidative Phosphorylation Deficiency 25
Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural hearing impairment, Wide n... OMIM:616430
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Obesity, Short nose OMIM:611936
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Prominent nose, Micrognathia, High palate, Compulsive behaviors, Abnormal r... ORPHA:177907
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Recurrent respiratory infections, Abnormality of neutro... ORPHA:36426
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia OMIM:616949
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Palpebral edema, Depressed nasal bridge, Per... ORPHA:363659
Orofaciodigital Syndrome Type 4
Micrognathia, High, narrow palate, Depressed nasal ridge, Abnormality of the ear, Conductive hear... ORPHA:2753
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Plagiocep... OMIM:614749
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Anemia, Hearing impai... OMIM:618835
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Pallister-Hall-Like Syndrome
Occipital encephalocele, Depressed nasal bridge, Short stature, Micrognathia, Cleft palate, Micro... OMIM:241800
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Anemia, Hearing impai... OMIM:618839
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Neutropenia ORPHA:2643
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Short stature, Prominent nose, Asplenia, Anemia, Hypoplastic sple... OMIM:185070
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Short nose OMIM:300581
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Wide nasal bridge, T lymphocytopenia, B lymphocytopenia, Intrauterine growth retardation, Abnorma... OMIM:615966
Fanconi Anemia, Complementation Group L
Micrognathia, Esophageal atresia, Wide nasal bridge, Tracheoesophageal fistula, Depressed nasal t... OMIM:614083
Shwachman-Diamond Syndrome 2
Normocytic anemia, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, Thrombocytopenia OMIM:617941
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Sensorineural hearing impairment, Recurrent in... OMIM:300972
Femoral-Facial Syndrome
Short stature, Micrognathia, Cryptorchidism, Cleft palate, Microtia, Low-set ears, Short nose ORPHA:1988
Tarp Syndrome
Extramedullary hematopoiesis, Anteverted nares, Cryptorchidism, Wide nasal bridge, Cleft palate, ... ORPHA:2886
Bor Syndrome
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... ORPHA:107
Cardiofaciocutaneous Syndrome 1
Depressed nasal bridge, Anteverted nares, Polyhydramnios, Posteriorly rotated ears, Micrognathia,... OMIM:115150
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose OMIM:137550
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Recurrent urinary tract infections, Chilblain... OMIM:619487
Eec Syndrome
Aplasia/Hypoplasia of the skin, Decreased response to growth hormone stimulation test, Choanal at... ORPHA:1896
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Micrognathia, Dental malo... ORPHA:329178
Chops Syndrome
Anteverted nares, Short stature, Tracheomalacia, Splenomegaly, High, narrow palate, Cryptorchidis... OMIM:616368
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Wide nasal bridge, Restrictive ventilatory defect, High palate, Short ... OMIM:218000
Developmental Delay, Hypotonia, And Impaired Language
Cryptorchidism, Gastroesophageal reflux, Neutropenia OMIM:620012
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Macule, Orchitis, Erythema, Vasculitis, Skin ulcer, Gastrointestinal... ORPHA:761
Mucopolysaccharidosis-Plus Syndrome
Wide nose, Thrombocytopenia, Splenomegaly, Congestive heart failure, Wide nasal bridge, Macroglos... OMIM:617303
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Microtia, Hypogonadism, Severe sensorineural hearing impairmen... ORPHA:2983
Peutz-Jeghers Syndrome
Nasal polyposis, Rectal prolapse, Multiple gastric polyps, Hamartomatous polyposis, Iron deficien... OMIM:175200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Wide nose, Anteverted nares, Subcutaneous nodule, Wide nasal bridge, Skin ulcer, Scaling skin, Le... ORPHA:2526
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small earlobe, Prominent nasal bridge, Hearing impairment, Underdeveloped nasal alae, Bulbous nos... ORPHA:364577
Diaphanospondylodysostosis
Respiratory distress, Depressed nasal bridge, Micrognathia, Increased nuchal translucency, Depres... OMIM:608022
Methylmalonyl-Coa Epimerase Deficiency
Failure to thrive, Gastroesophageal reflux, Dehydration OMIM:251120
Myopathy, Mitochondrial, And Ataxia
Mandibular prognathia, Short stature, Micrognathia, Primary amenorrhea, Growth delay, High palate... OMIM:617675
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Short nose, Anteverted nares ORPHA:228384
Q Fever
Respiratory distress, Anorexia, Cholecystitis, Cough, Meningitis, Infectious encephalitis, Maculo... ORPHA:781
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Depressed nasal bridge, Anteverted nares, Apnea, Micrognat... ORPHA:314655
Cohen Syndrome
Decreased response to growth hormone stimulation test, Prominent nasal bridge, High, narrow palat... OMIM:216550
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Short stature, Depressed nasal ridge, Low-set ears, Intrauterine growth retardation, ... OMIM:300863
Opsismodysplasia
Recurrent respiratory infections, Severe short stature, Depressed nasal bridge, Splenomegaly, Res... ORPHA:2746
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n... ORPHA:54251
Cystic Fibrosis
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Gastroesophageal refl... ORPHA:586
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemophagocytosis, ... OMIM:301078
Tetrasomy 18P
Low-set, posteriorly rotated ears, Short nose, Achalasia ORPHA:3307
Immunodeficiency 43
Subcutaneous nodule, Reduced natural killer cell count, B lymphocytopenia, Lung abscess OMIM:241600
Baller-Gerold Syndrome
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Short stature, Malabso... ORPHA:1225
Prolactinoma
Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... ORPHA:2965
Lesch-Nyhan Syndrome
Gout, Anemia ORPHA:510
C Syndrome
Anteverted nares, Posteriorly rotated ears, Short stature, Micrognathia, Cryptorchidism, Wide nas... OMIM:211750
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Hypogonadotropic hypogonadism, Impulsivity, Short stature, Esophageal atr... OMIM:301030
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anteverted nares, Posteriorly rotated ears, Short stature, Anterior open-bite malocclusion, High ... OMIM:617877
Corticosterone Methyloxidase Type I Deficiency
Growth delay, Failure to thrive, Dehydration OMIM:203400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Anteriorly placed anus, ... OMIM:239300
Monosomy 22
Wide nose, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Prominent oc... ORPHA:96123
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia OMIM:615387
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Sacral dimple, Turricephaly, Aganglionic megacolon, Intraventricular hemorrhage,... OMIM:613603
Fanconi Anemia
Leukopenia, High palate, Abnormality of the hypothalamus-pituitary axis, Aplasia/Hypoplasia of th... ORPHA:84
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Wide nose, Rhizomelia, Depressed nasal ridge, Short nose ORPHA:2831
Adenylosuccinase Deficiency
Hyperactivity, Anteverted nares, Aggressive behavior, Growth delay, Inappropriate laughter, Low-s... OMIM:103050
Dyskeratosis Congenita, Digenic
Decreased testicular size, Short stature, Recurrent infections, Gastroesophageal reflux, Dysphagi... OMIM:620040
Waardenburg Syndrome Type 1
Mandibular prognathia, Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Congenital... ORPHA:894
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema OMIM:223350
Toluene Embryopathy
Short stature, Micrognathia, Cryptorchidism, Protruding ear, Hypoplasia of the zygomatic bone, Lo... ORPHA:1920
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Underdeveloped nasal alae, He... ORPHA:2031
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Microretrognathia, Failure to thrive in infancy, Depressed nasal bridge, Spleno... OMIM:619418
Cartilage-Hair Hypoplasia
Sacral dimple, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Malabsorption, He... ORPHA:175
Corticosterone Methyloxidase Type Ii Deficiency
Growth delay, Failure to thrive, Dehydration OMIM:610600
Microform Holoprosencephaly
Narrow nasal bridge, Anteverted nares, Choanal atresia, Maternal diabetes, Midnasal stenosis, Pan... ORPHA:280200
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, Wide nose, Prominent nasal bridge, Aggressive behavior, ... ORPHA:251028
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Neutropenia, Intrauterine growth... ORPHA:79284
Nicolaides-Baraitser Syndrome
High, narrow palate, Anteverted nares, Short stature, Cryptorchidism, Umbilical hernia, Wide nasa... OMIM:601358
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Large for gestational ag... OMIM:614080
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft hard pala... OMIM:614701
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Hypertension, Gastric ulcer, Delayed puberty, Anemia OMIM:208060
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Cryptorchidism,... ORPHA:2510
Castleman Disease
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, F... ORPHA:160
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure, Hepatosplenomeg... ORPHA:505248
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Polyhydramnios, Cryptorchidism, Cleft ... ORPHA:1812
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short stature, Rhizomelia, Micrognathia, Depressed nasal ridge, Low-set ears, Intrauterine growth... ORPHA:163966
Coffin-Siris Syndrome
Delayed eruption of teeth, Hyperactivity, Depressed nasal bridge, Anteverted nares, Broad nasal t... ORPHA:1465
Meige Disease
Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas... ORPHA:90186
Harel-Yoon Syndrome
Mandibular prognathia, Short nose, Micrognathia OMIM:617183
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Spondyloenchondrodysplasia With Immune Dysregulation
Frontal bossing, Turricephaly, Hypermelanotic macule, Autoimmune thrombocytopenia, Raynaud phenom... OMIM:607944
16P13.11 Microdeletion Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Sensorineural hearing im... ORPHA:261236
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Depressed nasal bridge, Anteverted nares, Brachycephaly, Cleft palate, High pala... ORPHA:163649
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Depressed nasal bridge, Anteverted nares, Tracheomalacia, Micrognathia, Repetitive compulsive beh... ORPHA:513456
Mitochondrial Complex I Deficiency, Nuclear Type 33
Intrauterine growth retardation, Neutropenia, Dysphagia OMIM:618253
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Splenomegaly, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios OMIM:263200
Desbuquois Dysplasia 1
Microretrognathia, Neonatal respiratory distress, Severe short stature, Depressed nasal bridge, O... OMIM:251450
Weiss-Kruszka Syndrome
Anteverted nares, Hearing impairment, Cupped ear, Overfolded helix, Protruding ear, Microtia, Low... OMIM:618619
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Abnormality of the gastrointestinal tract, Anteverted nares, F... ORPHA:1340
Autosomal Dominant Omodysplasia
Rhizomelia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Short nose ORPHA:93328
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia, Petechiae ORPHA:79477
Colchicine Poisoning
Respiratory distress, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Dehydration ORPHA:31824
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Bile duct proliferation, Hepatosplenomegaly ORPHA:79302
Isolated Cleft Lip
Small for gestational age, Polyhydramnios, Velopharyngeal insufficiency, Abnormal Eustachian tube... ORPHA:199302
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Protruding tongue, Retrognathia, Conductive hearing impairment... ORPHA:561
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Failure to... OMIM:275350
Atypical Werner Syndrome
Fasting hyperinsulinemia, Aplasia/Hypoplasia of the skin, Premature ovarian insufficiency, Abnorm... ORPHA:79474
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Dravet Syndrome
Obsessive-compulsive trait, Pallor, Impulsivity ORPHA:33069
Congenital Factor Ii Deficiency
Menorrhagia, Epistaxis, Anemia ORPHA:325
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Midface retrusion, Protruding tongue DECIPHER:52
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hypochromic microcytic anemia, Anemia, Steatorrhea ORPHA:440713
Digeorge Syndrome
Parathyroid agenesis, Decreased circulating parathyroid hormone level, High, narrow palate, Throm... OMIM:188400
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramn... ORPHA:1790
Atelis Syndrome 2
Frontal bossing, Sacral dimple, Prominent nose, Bulbous nose, Elevated circulating thyroid-stimul... OMIM:620185
Gaucher Disease Type 1
Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Pericardial effusion, Osteoarthritis, Pedal ... ORPHA:77259
Wolfram Syndrome
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Cardiomyopathy, Gastric ulcer, Hyp... ORPHA:3463
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation, Prominent nasal bridge, Short stature, Broad nasal tip, Micrognath... OMIM:300749
Early-Onset Familial Hypoaldosteronism
Postnatal growth retardation, Failure to thrive, Dehydration ORPHA:556030
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Short nose OMIM:618961
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Hypoplasia of the zygomatic bone, Short nose, Depressed nasal bridge, Short stature ORPHA:2835
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... ORPHA:35078
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Decreased fertility, Retrognathia, Hypoplasia of teeth, Growth delay, Keratocon... OMIM:234050
Leprosy
Urticarial plaque, Hypopigmented macule, Epistaxis, Abnormality of the spleen, Skin nodule, Testi... ORPHA:548
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Frontal bossing, Anteverted nares, Sa... OMIM:609942
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Anemi... ORPHA:563
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Convex nasal ridge, Leukocytosis, Hypoplasia of the ov... OMIM:619321
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Redundant neck skin, Abnormal pinna morpholo... OMIM:217980
Copper Deficiency, Familial Benign
Failure to thrive, Anemia, Seborrheic dermatitis OMIM:121270
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Cleft soft palate, Micrognath... OMIM:616331
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Hypertension, Increased mean corpuscular volume, Neutropenia, In... ORPHA:2169
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Short stature, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Esophageal varix, I... ORPHA:264580
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Gastroesophageal reflux, Choanal stenosis, Intrauterine growth retardation, Hypothyroidism, Bifid... OMIM:620186
Peripheral Primitive Neuroectodermal Tumor
Metrorrhagia, Anorexia, Vertigo, Weight loss, Ascites, Pancreatitis, Anemia ORPHA:370348
Zygomycosis
Gastrointestinal hemorrhage, Brain abscess, Pericarditis, Diabetes mellitus, Gastritis, Epistaxis... ORPHA:73263
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, An... OMIM:615710
Developmental Delay With Or Without Dysmorphic Facies And Autism
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micro... OMIM:618454
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Oligomeganephronia
Branchial cyst, Small for gestational age, Micrognathia, Dehydration, Polydipsia, Hearing impairment ORPHA:2260
Al-Raqad Syndrome
Short nose, Low-set ears OMIM:616459
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Short stature, Micrognathia, Large earlobe, Short nose, Failure to thrive OMIM:615851
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Skin ulcer ORPHA:352723
Pfeiffer Syndrome Type 3
Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Short... ORPHA:93260
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Micrognathia, Cleft palate, I... ORPHA:1915
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, Delayed puberty, Short nose ORPHA:496790
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Anteverted nares, Edema, Posteriorly rotated ears, Pericardial effusion, ... OMIM:617822
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Calciphylaxis
Skin ulcer, Secondary hyperparathyroidism ORPHA:280062
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Frontal bossing, Anteverted nares, Depressed nasal bridge, Bulbous nose, High palate, Short nose OMIM:614105
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Micrognathia, Recurrent infections, Eruption failure, High palate, Compulsiv... ORPHA:476126
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Dermal atrophy,... OMIM:127550
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Microretrognathia, Short stature, Carious teeth, Cryptorchidis... ORPHA:1786
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Howell-Joll... ORPHA:85443
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Wiedemann-Rautenstrauch Syndrome
Frontal bossing, Anteverted nares, Depressed nasal bridge, Narrow nasal ridge, Cryptorchidism, Br... OMIM:264090
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Anteverted nares, Depressed nasal bridge, Polyhydramnios, Micrognathia, Long nose, Decreased prop... ORPHA:508533
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Anal stenosis, Autoimmune hemolytic anemia, Premature ovarian insuff... OMIM:251260
Phosphoribosylpyrophosphate Synthetase Superactivity
Depressed nasal bridge, Small for gestational age, Short stature, Cryptorchidism, Sensorineural h... OMIM:300661
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Cystinosis, Nephropathic
Male infertility, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagia, Splenom... OMIM:219800
Brucellosis
Anorexia, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymitis, A... ORPHA:1304
Postinfectious Vasculitis
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... ORPHA:48435
Trisomy 10P
Anteverted nares, Small for gestational age, Depressed nasal bridge, Abnormality of the nose, Abn... ORPHA:171929
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Menometrorrhagia, Epistaxis, Malabsorption, Melanocytic nevus, Cardi... ORPHA:79430
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High pal... OMIM:602535
Immunodeficiency 33
Delayed eruption of teeth, Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Diss... OMIM:300636
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Neonatal asphyxia, Dehydration, Azoospermia, Decreased fertility in males, Failur... ORPHA:90791
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Scedosporiosis
Diabetes mellitus, Pericarditis, Subcutaneous nodule, Abnormal jejunum morphology ORPHA:449280
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Dysphagia, Plagiocephaly, Concave nasal ridge, Gastroesophageal reflux, Arrhythmia, Neutropenia, ... OMIM:615471
Bazex Syndrome
Scaling skin, Anemia, Edema ORPHA:166113
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Frontal bossing, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Plagiocepha... ORPHA:457279
Peho Syndrome
Recurrent respiratory infections, Anteverted nares, Palpebral edema, External ear malformation, P... ORPHA:2836
Pfeiffer Syndrome Type 2
Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, ... ORPHA:93259
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... ORPHA:227990
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Slender nose, Small for gestational age, Aplastic anemia, Abnormal den... ORPHA:221016
Pancreatic And Cerebellar Agenesis
Abnormal pinna morphology, Apnea, Severe intrauterine growth retardation, Low-set ears, Failure t... OMIM:609069
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Depressed nasal bridge, Thyroid lymphangiectasia, Cryptorchidism, R... OMIM:235510
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Growth delay, Failure to thrive, Dehydration OMIM:615453
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Anteverted nares, Cleft soft palate, Short stature, Micrognathi... ORPHA:2282
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... ORPHA:227982
Incontinentia Pigmenti
Delayed eruption of teeth, Maculopapular exanthema, Eosinophilia, Short stature, Keratitis, Leuko... OMIM:308300
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,... OMIM:230800
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Edema of the dorsum of feet, Apnea, Edema of the dorsum of han... ORPHA:521426
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
19P13.13 Microdeletion Syndrome
Anteverted nares, Depressed nasal bridge, Increased nuchal translucency, Functional abnormality o... ORPHA:357001
Renal Hypoplasia
Polydipsia, Small for gestational age, Recurrent urinary tract infections, Dehydration ORPHA:93101
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Edema, Splenomegaly, Meningitis, Hepatosplenomegaly, Anemia, Leukopenia,... OMIM:603553
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Mild postnatal growth retardation, Iridocyclitis, Kne... ORPHA:85408
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa... ORPHA:139411
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Posteriorly rotated ears, Cleft soft palate, Broad nasal tip, Micrognathia, Sho... OMIM:618529
Developmental And Epileptic Encephalopathy 75
Short nose, Anteverted nares, Wide nasal bridge OMIM:618437
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration OMIM:177735
Opsismodysplasia
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Edema... OMIM:258480
Rhombencephalosynapsis
Low-set, posteriorly rotated ears, Microretrognathia, Anteverted nares, Aganglionic megacolon, Es... ORPHA:59315
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Protruding tongue, Cryptorchidism, Obesity, Growth delay, Macroglossia, Short n... ORPHA:96147
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Chronic lung disease, Severe B lymphocytopenia, Depressed nasal bridge, Acute r... OMIM:620005
Proteus-Like Syndrome
Thymus hyperplasia, Epidermal nevus, Anteverted nares, Splenomegaly, Abnormality of the parathyro... ORPHA:2969
3Q29 Microdeletion Syndrome
Failure to thrive, Prominent nasal bridge, Aggressive behavior, High palate, Gastroesophageal ref... ORPHA:65286
Musculocontractural Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Microretrognathia, Recurrent skin infections, Redundant skin, ... ORPHA:2953
Distal Duplication 5Q
Short stature, Prominent nasal bridge, Eczema, Micrognathia, Carious teeth, Cryptorchidism, Low-s... ORPHA:96097
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Hypoplasia of the maxilla,... ORPHA:560
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Trisomy 18
Low-set, posteriorly rotated ears, Microretrognathia, Short stature, Choanal atresia, Cachexia, S... ORPHA:3380
Donnai-Barrow Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Intestinal malrotation, Broad nasal tip, Sensor... OMIM:222448
Cholera
Achlorhydria, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventila... ORPHA:173
Lipoid Proteinosis
Recurrent respiratory infections, Nasal polyposis, Acne, Pustule, High palate, Dysphagia, Microgl... ORPHA:530
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypogonadotropic hypogonadism, Anosmia, Hypoplasia of the zygomatic bone, Abnormal nostril morpho... ORPHA:1295
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Abnormal pinna morpholog... OMIM:244450
Distal Deletion 9P
Low-set, posteriorly rotated ears, High, narrow palate, Aplasia/Hypoplasia of the earlobes, Wide ... ORPHA:1642
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Skin fissure ORPHA:659
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Biliary hyperplasia, Pancre... ORPHA:731
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Anteverted ears, Short nose, Mandibular prognathia OMIM:618087
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Eczema, Allergic rhinitis, Asthma, High palate OMIM:618162
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty, Intrauterine growth retardation, Short nose, Convex nasal ridge ORPHA:3121
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Apnea, Edema, Micrognathia, Respiratory insufficiency, High palate, Low... OMIM:617527
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Lymphangioma, Abnor... ORPHA:464329
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Agitation, Pallor, Dysphagia ORPHA:13
Pyruvate Carboxylase Deficiency
Failure to thrive, Anorexia, Tachypnea, Dehydration, Growth delay, Compulsive behaviors, Abnormal... ORPHA:3008
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Short stature, Bulbous nose, Wide nasal bridge, Cleft palate, Protruding ear, ... OMIM:618571
Glycogen Storage Disease Ib
Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Xanthelasma, Inflammation of the lar... OMIM:232220
Von Hippel-Lindau Disease
Myocarditis, Vertigo, Macular edema, Pallor, Endolymphatic sac tumor, Polycythemia ORPHA:892
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Small for gestational age, Short stature, Edema, Cryptorchidism, G... ORPHA:97362
Stromme Syndrome
Accessory spleen, Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Wide nasal bri... OMIM:243605
Cadds
Cholangitis, Micrognathia, Sensorineural hearing impairment, Intrauterine growth retardation, Sho... ORPHA:369942
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Short nose, Spina bifida occulta ORPHA:1185
Teebi Hypertelorism Syndrome 1
Natal tooth, Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Wide nasal br... OMIM:145420
Brain Malformations With Or Without Urinary Tract Defects
Anteverted nares, Overfolded helix, Low-set ears, Short nose, Failure to thrive OMIM:613735
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Mixed hearing impairment, Depressed nasal bridge, Short stature, Polyh... OMIM:300990
Wiedemann-Steiner Syndrome
Hyperactivity, Short stature, Rhizomelia, Aggressive behavior, Postnatal growth retardation, Wide... ORPHA:319182
Chronic Mucocutaneous Candidiasis
Dyspareunia, Erythema, Skin ulcer, Papule ORPHA:1334
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Thin skin, Bone marrow hypocellularity, Intr... OMIM:612199
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Elevated stool chloride content, Dehydration, Growth delay, Failure to thrive OMIM:214700
Liver Disease, Severe Congenital
Chronic gastritis, Depressed nasal bridge, Narrow nasal ridge, Biliary hyperplasia, Splenomegaly,... OMIM:619991
Ectodermal Dysplasia-Blindness Syndrome
Narrow nasal bridge, Skin ulcer ORPHA:1806
Raine Syndrome
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Depressed nasal bridge, Choanal atr... OMIM:259775
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide nose, Anteverted nares, Posteriorly rotated ears, Polyhydramnios, Large for gestational age,... OMIM:213980
Warburg Micro Syndrome 3
Micrognathia, Postnatal growth retardation, Narrow palate, Short nose, Macrotia, Decreased testic... OMIM:614222
Chromosome 14Q11-Q22 Deletion Syndrome
Depressed nasal bridge, Unilateral cryptorchidism, Proportionate short stature, Micrognathia, Bil... OMIM:613457
Neurodegeneration With Brain Iron Accumulation 2A
Short nose, Micrognathia, Hearing impairment OMIM:256600
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Disproportionate short-limb ... OMIM:269250
Stuve-Wiedemann Syndrome 1
Anteverted nares, Apnea, Short stature, Micrognathia, Carious teeth, Oligohydramnios, Respiratory... OMIM:601559
Tarp Syndrome
Anteverted nares, Subdural hemorrhage, Wide nasal bridge, Cleft palate, Tongue nodules, Glossopto... OMIM:311900
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Gastroesophageal reflux, Acral ulceration OMIM:201300
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Anteriorly placed anus, Choanal stenosis, High palate, Hepato... ORPHA:798
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protruding to... OMIM:200600
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Gastroesophageal reflux, Compulsive behaviors, Advanced eruption of teeth, A... OMIM:615873
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Peri... OMIM:615846
Lysinuric Protein Intolerance
Glomerulonephritis, Respiratory insufficiency, Hepatosplenomegaly, Anemia, Leukopenia, Tubulointe... ORPHA:470
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula... ORPHA:95699
Mungan Syndrome
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmo... OMIM:611376
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Macroglossia, Neutropenia, Hypothyroidism, Microcytic anemia OMIM:251900
Pontocerebellar Hypoplasia, Type 10
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growth delay, High pa... OMIM:615803
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Aganglionic megacolon, Short stature, Broad nasal tip, Sensorineural hearing impai... OMIM:614207
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Apnea, Fetal ascites, Prominent nose, Micrognathia, Facial erythema, High ... OMIM:619503
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Recurrent urinary tract infections, Redundant neck skin, Depressed nasal bridge, Anteverted nares... OMIM:617157
Hydatidiform Mole
Menometrorrhagia, Anemia ORPHA:99927
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Redundant skin, Myocardial infarction, Hiatus hernia, Cardiac arrest,... ORPHA:3342
Immunodeficiency 55
Absent natural killer cells, Dry skin, Lymphadenopathy, Neutropenia, Intrauterine growth retardat... OMIM:617827
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary insufficiency, Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphang... OMIM:265380
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
White-Kernohan Syndrome
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Retrognathia, Anter... OMIM:619426
Marshall Syndrome
Depressed nasal bridge, Anteverted nares, Short stature, Micrognathia, Sensorineural hearing impa... OMIM:154780
Familial Keratoacanthoma
Papule, Subcutaneous nodule, Adenoma sebaceum, Skin ulcer ORPHA:493
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Antley-Bixler Syndrome
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Brachycephaly... ORPHA:83
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor, Agitation, Increased body weight, Large for gestational age ORPHA:263455
Toriello-Carey Syndrome
Neonatal respiratory distress, Abnormal pinna morphology, Aganglionic megacolon, Short stature, M... ORPHA:3338
Thrombocytopenia-Absent Radius Syndrome
Anteverted nares, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Brachycephaly, ... OMIM:274000
Au-Kline Syndrome
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Cryptorchid... OMIM:616580
Fibrochondrogenesis 1
Depressed nasal bridge, Anteverted nares, Abnormal pinna morphology, Rhizomelia, Hydrops fetalis,... OMIM:228520
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Underfolded helix, Depressed nasal bridge, Smal... OMIM:268400
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Recurrent infections, High palate, L... OMIM:618590
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios, Short nose, Failure to thrive ORPHA:50810
Jaberi-Elahi Syndrome
Depressed nasal bridge, Protruding ear, Low-set ears, Short nose, Failure to thrive OMIM:617988
Pfeiffer Syndrome
Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, Choanal sten... OMIM:101600
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Cerebral edema, Facial erythema ORPHA:439218
Toriello-Lacassie-Droste Syndrome
Anteverted nares, Aganglionic megacolon, Polyhydramnios, Abnormality of the ear, Growth delay, Sh... ORPHA:3339
Fibrochondrogenesis 2
Short nose, Anteverted nares, Micrognathia OMIM:614524
Pallister-Hall Syndrome
Natal tooth, Depressed nasal bridge, Anteverted nares, Choanal atresia, Posteriorly rotated ears,... OMIM:146510
1P21.3 Microdeletion Syndrome
Broad nasal tip, Aggressive behavior, Abnormal eating behavior, Micrognathia, Obesity, Self-injur... ORPHA:293948
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Protruding ear, Gastroesophageal reflux, Short stature, Cleft soft palate, Cryptorchidism, Supern... ORPHA:268261
Fontaine Progeroid Syndrome
Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Anteriorly placed anus,... OMIM:612289
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Short stature, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Short stature, Hypertonic dehydration OMIM:304800
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Depressed nasal bridge, Anteverted nares, Large for gestational age, High palate, Low-set ears, S... OMIM:615398
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Respiratory distress, Severe short stature, Dep... OMIM:166250
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Trisomy 20P
Frontal bossing, Anteverted nares, Cryptorchidism, Brachycephaly, Plagiocephaly, Ectopic anus, Do... ORPHA:261318
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Aplastic anemia, Cryptorchidism, Functional abnormality of the g... ORPHA:221008
Oculodentodigital Dysplasia
Narrow nasal bridge, Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, ... ORPHA:2710
Warburg Micro Syndrome 2
Prominent nasal bridge, Asymmetry of the ears, Postnatal growth retardation, Cryptorchidism, Shor... OMIM:614225
Tsh-Secreting Pituitary Adenoma
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... ORPHA:91347
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Rhizomelia, Micrognathia, C... OMIM:602398
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Short nose, Ret... OMIM:614753
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Parkes Weber Syndrome
Subarachnoid hemorrhage, High-output congestive heart failure, Skin ulcer, Abnormal lymphatic ves... ORPHA:90307
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Cough, Ec... ORPHA:340
Isolated Biliary Atresia
Atretic gallbladder, Splenomegaly, Xanthelasma, Acholic stools, Fat malabsorption, Bile duct prol... ORPHA:30391
Temtamy Preaxial Brachydactyly Syndrome
Short stature, Micrognathia, Hypoplasia of the maxilla, Talon cusp, Growth delay, Low-set ears, S... ORPHA:363417
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Anal stenosis, Anteverted nares, Increased nuchal translucency, Overfolded hel... ORPHA:280633
Rift Valley Fever
Skin rash, Anorexia, Hematemesis, Vertigo, Severe viral infection, Hepatitis, Uveitis, Macular ed... ORPHA:319251
Robinow Syndrome, Autosomal Dominant 3
Frontal bossing, Sacral dimple, Tricuspid regurgitation, Anteverted nares, Depressed nasal bridge... OMIM:616894
Kindler Epidermolysis Bullosa
Turricephaly, Aplasia/Hypoplasia of the skin, Esophageal stricture, Erythema, Atypical scarring o... ORPHA:2908
Serkal Syndrome
Malrotation of small bowel, Pulmonic stenosis, Abnormality of the adrenal glands ORPHA:139466
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Scaling skin, Neutropenia, Skin vesicl... ORPHA:293173
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Hyperactivity, Fasciitis, Osteomyelitis, Impulsivity, Tooth abscess, Growth delay, R... ORPHA:642
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Aplasia of the nasal bone, Prominent nasal bridge, Micrognathia, Hypop... OMIM:601812
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Rhizomelia, Bulbous nose, Laryng... OMIM:271510
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Redundant neck skin, Anteverted nares, Intestina... ORPHA:2729
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Glycogen Storage Disease Ic
Cyclic neutropenia, Spider hemangioma, Recurrent upper respiratory tract infections, Xanthelasma,... OMIM:232240
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia OMIM:616457
Cornelia De Lange Syndrome
Micrognathia, High palate, Gastroesophageal reflux, Compulsive behaviors, Conductive hearing impa... ORPHA:199
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, High, narrow palate, Protruding ear, Short nose, Convex nasal ... ORPHA:3258
Cogan Syndrome
Episcleritis, Abnormal vestibular function, Keratitis, Leukocytosis, Sensorineural hearing impair... ORPHA:1467
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Anteverted nares, Tricuspid stenosis, Asplenia, Esophageal atr... OMIM:164280
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Protruding ear, High palate, Tics, Otitis media, Compulsive behaviors, Abnor... OMIM:619475
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Brachycephaly, High palate, Short nose, Midface retrusion, Bicoronal syno... ORPHA:93258
Atelosteogenesis, Type I
Encephalocele, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Micrognathia, Cryptorchidism, ... OMIM:108720
Otopalatodigital Syndrome, Type I
Short stature, Wide nasal bridge, Cleft palate, Multiple impacted teeth, Conductive hearing impai... OMIM:311300
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pulsatile tinnitus, Paroxysmal vertigo, Weight loss, Pallor, Conductive hearing impairment ORPHA:276621
Acrocallosal Syndrome
Mandibular prognathia, High palate, Bifid uvula, Microretrognathia, Persistence of primary teeth,... OMIM:200990
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Cat Eye Syndrome
Preauricular pit, Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft pa... OMIM:115470
Witteveen-Kolk Syndrome
Glue ear, Polyhydramnios, Uplifted earlobe, High, narrow palate, Protruding ear, High palate, Gas... OMIM:613406
Phocomelia, Schinzel Type
Micrognathia, High, narrow palate, Cryptorchidism, Meningocele, Disproportionate short stature, T... ORPHA:2879
Necrotizing Enterocolitis
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocytopenia ORPHA:391673
Goodpasture Syndrome
Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory def... OMIM:233450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Dermal translucency, Mixed hearing impairment, Depressed nasal bridge, Ante... ORPHA:536467
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Anteverted nares, Crypt... OMIM:229850
Aspartylglucosaminuria
Mandibular prognathia, Recurrent respiratory infections, Macroorchidism, Malabsorption, Carious t... ORPHA:93
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Short stature, Polyhydramnios, Cleft palate, Short ... ORPHA:1394
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Palpitations, Mitral stenosis, Meckel diverticulum, Abnormal gastrointest... ORPHA:2847
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Severe postnatal growth retardation, Short nose, Micrognathia OMIM:266810
Fraser Syndrome 1
Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdeve... OMIM:219000
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, High palate, Gastroesophageal reflux, Cough, Emphysema, Short stature, Respiratory ins... OMIM:613658
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Micrognathia, Wide nasal bridge,... OMIM:620369
Oculodentodigital Dysplasia
Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cari... OMIM:164200
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Nablus Mask-Like Facial Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hypoplasia of the maxilla, Cr... OMIM:608156
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Eosinophilia, Cardiac arrest, Myocarditis, Erythema, Thyroiditis, Lymphadenopathy, Lympho... ORPHA:139402
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... OMIM:601346
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction OMIM:208550
Bartsocas-Papas Syndrome
Short nose, Micrognathia, Cleft palate, Underdeveloped nasal alae ORPHA:1234
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, High, narrow palate, Cryptorchidism, Ne... ORPHA:193
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Microgna... OMIM:616007
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Penetrating foot ulcers ORPHA:99956
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hypogonadotropic hypogonadism, Acne, Short stature, Abnormality of the menstrual cycle, Decreased... ORPHA:90794
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Hepat... ORPHA:171
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Recurrent bacterial infections... ORPHA:182
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus hernia, Cryptorchid... OMIM:601776
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Decreased fertility, Dehydration, Abnormality of the Leydig cells, Delayed pubert... ORPHA:168558
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Posteriorly rotated ears, Cryptorchidism, Cleft palate, Growth delay, Mic... OMIM:601353
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Hematemesis, Dehydration, Weight loss, Melena, Impotence,... ORPHA:652
Carey-Fineman-Ziter Syndrome
Anteverted nares, Aplasia/Hypoplasia of the tongue, Short stature, Micrognathia, Cleft palate, Gr... ORPHA:1358
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Decreased fertility, Dehydration, Abnormality of the Leydig cells, Delayed pubert... ORPHA:289548
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Membranoproliferative glomerulonephritis, Microcytic anemia, Underdeveloped nasal alae... OMIM:619525
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration, Weight loss, Intrauterine growth retardation, Failure to thrive, Hearing impairment ORPHA:99885
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Malabsorption, Enamel hypomineralization, Dehyd... ORPHA:47159
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Failure to thrive, Severe short stature, Aganglio... ORPHA:2273
Faciodigitogenital Syndrome, Autosomal Recessive
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Proportionate short stature, ... OMIM:227330
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Short stature, Polyhydramnios, Anorexia, Growth delay, Polydipsia, Fai... ORPHA:223
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Protruding ear, High palate, Abnormal repetitive mannerisms, Bifid uvula, ... OMIM:620330
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly OMIM:301081
Blomstrand Lethal Chondrodysplasia
Natal tooth, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Protruding tongue, Microgn... ORPHA:50945
Coffin-Lowry Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Short stature, Sensorineural hearing impairme... OMIM:303600
Pai Syndrome
Encephalocele, Nasal polyposis, Depressed nasal bridge, Cleft palate, Midline defect of the nose,... ORPHA:1993
Gapo Syndrome
Frontal bossing, Epidermoid cyst, Redundant skin, Anteverted nares, Depressed nasal bridge, High,... OMIM:230740
Sarcoidosis
Abnormal nasal mucosa morphology, Increased T cell count, Uveitis, Leukopenia, Tubulointerstitial... ORPHA:797
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Short nose, Apnea, Micrognathia ORPHA:1129
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in... OMIM:113650
Cerebrooculonasal Syndrome
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Posteriorly rotated ears, Pos... OMIM:605627
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short stature, Depressed nasal bridge, Microtia, Low-set ears, Short nose OMIM:616723
Trichothiodystrophy
Craniosynostosis, High, narrow palate, Cryptorchidism, Increased mean corpuscular hemoglobin conc... ORPHA:33364
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Depressed nasal bridge, Small for gestational age, Posteriorly rotated ears, Broad... OMIM:309590
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Anteverted nares, Small for gestational age, Broad nasal tip, ... ORPHA:363611
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Uveitis, Glossopt... ORPHA:828
Chromosome 16P13.3 Duplication Syndrome
Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Cryp... OMIM:613458
Robinow Syndrome
Mixed hearing impairment, Anteverted nares, Small for gestational age, Depressed nasal bridge, Br... ORPHA:97360
Autosomal Recessive Robinow Syndrome
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Depressed nasal bridge, Ante... ORPHA:1507
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... OMIM:122880
Mietens Syndrome
Wide nose, Severe short stature, Wide nasal bridge, Short nose ORPHA:2557
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Micrognathia, Hypoplasia of teeth, Growth delay, High palate, Short nose OMIM:608612
X-Linked Intellectual Disability, Nascimento Type
Preauricular pit, Recurrent cutaneous abscess formation, Depressed nasal bridge, Underdeveloped n... ORPHA:163956
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Recurrent upper r... OMIM:618183
Intellectual Developmental Disorder, Autosomal Dominant 54
Gastrointestinal dysmotility, Gastroesophageal reflux, Neutropenia, Dry skin, Midface retrusion OMIM:617799
Infantile Nephropathic Cystinosis
Growth delay, Polydipsia, Failure to thrive, Dehydration ORPHA:411629
Aymé-Gripp Syndrome
Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Short stature, Pericardial effusi... ORPHA:1272
Holoprosencephaly 7
Bilateral cleft palate, Frontal bossing, Flat occiput, Flat nasal alae, Absent nasal septal carti... OMIM:610828
Ring Chromosome 7 Syndrome
Anteverted nares, Prominent nasal bridge, Wide nasal bridge, Cleft palate, Heart murmur, Hydrocel... ORPHA:1449
Otopalatodigital Syndrome Type 2
Encephalocele, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Myelomeningocele,... ORPHA:90652
Nephronophthisis 4
Growth delay, Polydipsia, Anemia OMIM:606966
Leigh Syndrome
Congestive heart failure, Gastrointestinal dysmotility, Dysphagia, Neutropenia, Intrauterine grow... ORPHA:506
Childhood Absence Epilepsy
Punding, Pallor, Attention deficit hyperactivity disorder, Hyperventilation ORPHA:64280
Menke-Hennekam Syndrome 1
Short ear, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Gastroesophageal ref... OMIM:618332
C Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Failure to thrive in... ORPHA:1308
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy, Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia, Hypot... ORPHA:445038
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Wide nose, Depressed ... ORPHA:93357
Dyskeratosis Congenita, X-Linked
Decreased testicular size, Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Esophageal stric... OMIM:305000
Hereditary Pheochromocytoma-Paraganglioma
Pulsatile tinnitus, Paroxysmal vertigo, Weight loss, Pallor, Conductive hearing impairment ORPHA:29072
Renal Nutcracker Syndrome
Dyspareunia, Dysmenorrhea, Weight loss, Infertility, Anemia ORPHA:71273
Down Syndrome
Redundant neck skin, Aganglionic megacolon, Protruding tongue, Brachycephaly, Duodenal stenosis, ... OMIM:190685
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, Postnatal growth retar... OMIM:269150
Malt Lymphoma
Recurrent respiratory infections, Posterior uveitis, Anemia, Weight loss ORPHA:52417
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Abnormality of the temporomandibular joint, Depressed nasal br... ORPHA:536471
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Micrognathia, Glossoptosis, High palate, Gastroesophageal reflux, Aspiration pneumonia, Conductiv... ORPHA:444077
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Paralytic ileus, Melena, Pancreatic islet-cell hyperpl... OMIM:276700
Meier-Gorlin Syndrome 7
Anal stenosis, Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Heart block, Cryptor... OMIM:617063
Simpson-Golabi-Behmel Syndrome, Type 1
Postauricular pit, Hepatoblastoma, Preauricular pit, Exaggerated median tongue furrow, Anteverted... OMIM:312870
Bartsocas-Papas Syndrome 1
Anal stenosis, Underdeveloped nasal alae, Bilateral cryptorchidism, Hypoplasia of the maxilla, Mi... OMIM:263650
Zttk Syndrome
Aortic regurgitation, Absent gallbladder, Frontal bossing, Depressed nasal bridge, Craniosynostos... OMIM:617140
Saul-Wilson Syndrome
Narrow nasal bridge, Intrauterine growth retardation, Convex nasal ridge, Neutropenia OMIM:618150
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Small for gestational age, Short stature, Polyhydramnios, Dehydration, Polydip... OMIM:241200
Juvenile Nephropathic Cystinosis
Growth delay, Polydipsia, Failure to thrive, Dehydration ORPHA:411634
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Ecchymosis, Short nose, Epistaxis OMIM:277450
Simpson-Golabi-Behmel Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Anteverted nares, Polyhydramnios, Splen... ORPHA:373
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Scaphocephaly, Turricephaly OMIM:619036
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Dehydration, Protruding ear, Bilateral sensorineural h... ORPHA:89938
Monosomy 9P
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Cleft pa... ORPHA:261112
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... ORPHA:512
Genitourinary And/Or Brain Malformation Syndrome
Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Ileal atresia, Micrognathia, Cryptorchi... OMIM:618820
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Long nose, High palate, Small earlobe, Abnormal repetitive mannerisms, Anteverted nares, Short st... OMIM:619522
Autosomal Dominant Robinow Syndrome
Wide nose, Median cleft lip and palate, Depressed nasal bridge, Anteverted nares, Posteriorly rot... ORPHA:3107
Monosomy 9Q22.3
Delayed eruption of teeth, Hyperactivity, Large for gestational age, Thickened ears, Low-set ears... ORPHA:77301
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Repetitive compulsive behavior, Self-biting, Gastroesophageal reflux, Prominent na... ORPHA:522077
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Maternal diabetes, Abnormality of the nose, Anteriorly... ORPHA:1708
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Hypoplasia of the thymus, Pul... ORPHA:3384
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the skin, Aplastic anemia, Telangiectasia of the skin, Infertility, Neutrop... ORPHA:2909
Wolf-Hirschhorn Syndrome
Accessory spleen, Preauricular pit, Sacral dimple, Precocious puberty, Cryptorchidism, Malrotatio... OMIM:194190
Lipodystrophy, Familial Partial, Type 7
Small for gestational age, Spontaneous pneumothorax, Narrow nasal ridge, Facial wrinkling, Dry sk... OMIM:606721
Robinow Syndrome, Autosomal Recessive 1
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, Short stature, ... OMIM:268310
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Autosomal Recessive Faciodigitogenital Syndrome
Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, Short stature, ... ORPHA:1974
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, High palate, Bifid uvula OMIM:155145
Ayme-Gripp Syndrome
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Posteriorly rotated ears, Short stat... OMIM:601088
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Redundant skin, Pyloric stenosis, Congestive heart failure... ORPHA:90349
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Anteverted nares, Broad nasal tip, Sensorineural hearing impairment, Di... OMIM:272460
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Depressed nasal bridge, Short stature, Abnormality of the ear, Disproportionate short-trunk short... ORPHA:457395
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Anteverted nares, Choanal atresia, Narrow nose, Posteriorly rotated ears, Cleft palate, Growth de... OMIM:301044
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Aspartylglucosaminuria
Anteverted nares, Depressed nasal bridge, Vacuolated lymphocytes, Brachycephaly, Macroglossia, Mi... OMIM:208400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Williams Syndrome
Redundant skin, Micrognathia, Periorbital edema, Rectal prolapse, Protruding ear, Gastroesophagea... ORPHA:904
Peters Plus Syndrome
Preauricular pit, Intestinal fistula, Sacral dimple, Frontal bossing, Anteverted nares, Depressed... ORPHA:709
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short stature, Micrognathia, Delayed puberty, Short nose, Convex nasal ridge ORPHA:90154
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Robinow Syndrome, Autosomal Dominant 1
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mi... OMIM:180700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acral ulceration, Hepatocellular carcinoma OMIM:256810
Blau Syndrome
Hypertension, Pericarditis, Intermittent generalized erythematous papular rash, Skin ulcer OMIM:186580
Histiocytoid Cardiomyopathy
Tachypnea, Cleft palate, Pallor, Cough, Failure to thrive, Pulmonary edema ORPHA:137675
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Geleophysic Dysplasia 1
Anteverted nares, Short stature, Lack of skin elasticity, Thickened helices, Short nose OMIM:231050
Williams-Beuren Syndrome
Rectal prolapse, Gastroesophageal reflux, Anteverted nares, Depressed nasal bridge, Short stature... OMIM:194050
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Neutropenia, Bradycardia, Dysphagia OMIM:617248
Bartter Syndrome, Type 1, Antenatal
Short stature, Small for gestational age, Polyhydramnios, Dehydration, Failure to thrive OMIM:601678
Pallister-Hall Syndrome
Large for gestational age, Depressed nasal ridge, Paroxysmal bursts of laughter, Bifid uvula, Low... ORPHA:672
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Brachycephaly, High palate, Gastroes... OMIM:619472
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Retinitis Pigmentosa 75
Pallor OMIM:617023
Molybdenum Cofactor Deficiency, Complementation Group B
Growth delay, Short nose, Neonatal death OMIM:252160
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Acral ulceration OMIM:256800
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Subcutaneous nodule, Thick nasal alae, Anteverted nar... ORPHA:744
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Depressed nasal bridge, Failure to thrive in infancy, Proportionate short stature, Hypoplasia of ... ORPHA:500150
Acromesomelic Dysplasia 1
Short nose, Disproportionate short stature, Redundant skin on fingers OMIM:602875
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Underdeveloped nasal alae, Pneumothorax, Erythema, Joint swelling, High... OMIM:618175
Senior-Loken Syndrome 8
Pallor OMIM:616307
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema, Severe cytomegalovirus infection, Conical incisor, Recurrent bacterial infections, Mo... OMIM:300291
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Dermal translucency, Spontaneous pneumothorax, Repeated pneumothoraces, Narrow n... OMIM:130050
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of the nose, Midface retrusi... OMIM:229400
Penile Agenesis
Posteriorly rotated ears, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Anorectal anoma... ORPHA:49
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Cutis laxa, ... ORPHA:90348
Neutral Lipid Storage Disease With Ichthyosis
Abnormal granulocyte morphology, Cardiomyopathy ORPHA:98907
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Parietal foramina, Cryptorchidism, Wide nasal bridge, Skin dimple, High palate,... OMIM:609945
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Cryptorchidism, Wide nasal bridge, Abnormal helix morphology, Low-set ear... ORPHA:1519
Primary Fanconi Renotubular Syndrome
Growth delay, Dehydration, Weight loss ORPHA:3337
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Peroxisome Biogenesis Disorder 4B
Short nose, Sensorineural hearing impairment OMIM:614863
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Molybdenum Cofactor Deficiency, Complementation Group A
Growth delay, Short nose OMIM:252150
Geleophysic Dysplasia 2
Pulmonary arterial hypertension, Short nose, Short stature, Respiratory insufficiency OMIM:614185
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Femoral-Facial Syndrome
Abnormal pinna morphology, Short stature, Underdeveloped nasal alae, Micrognathia, Cryptorchidism... OMIM:134780
Omodysplasia 1
Depressed nasal bridge, Rhizomelia, Micrognathia, Cryptorchidism, Wide nasal bridge, Disproportio... OMIM:258315
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Transient neutropenia, Midface retrusion OMIM:617107
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Depressed nasal bridge, Micrognathia, Recurrent pneumonia, Depressed nasal ridge, Restrictive ven... OMIM:271665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Short nasal bridge, Pallor, Micrognathia OMIM:253280
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Abnormal tongue morphology, Neoplasm of the liver, Pallor, Ganglioneuromat... ORPHA:653
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Transient neutropenia, Chronic neutropenia, Midface retrusion ORPHA:500095
Genitopatellar Syndrome
Anal stenosis, Wide nose, Prominent nasal bridge, Prominent nose, Cryptorchidism, Malrotation of ... OMIM:606170
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Recurrent bacterial infections, Pulm... ORPHA:99104
Pallister-Killian Syndrome
Edema of the dorsum of feet, Polyhydramnios, Micrognathia, Anteriorly placed anus, Apneic episode... OMIM:601803
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Hearing abnormality, Vertigo, Vestibular schwannoma, Abnor... ORPHA:252164
Sotos Syndrome
Aganglionic megacolon, Aggressive behavior, Cryptorchidism, No permanent dentition, Decreased fer... ORPHA:821
Split Cord Malformation
Skin dimple, Penetrating foot ulcers ORPHA:573278
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:99125

Histopathology

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

There is no histopathology data for E2f4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to E2f4.

No publications found that use IMPC mice or data for E2f4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
E2f4tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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