Gene Summary

Name:
delta like canonical Notch ligand 1
Synonyms:
Delta1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased granulocyte number Dll1tm1Gos HET Early adult 4.92×10-05
hyperactivity Dll1tm1Gos HET Early adult 1.08×10-08
decreased circulating potassium level Dll1tm1Gos HET Early adult 4.12×10-08
abnormal righting response Dll1tm1Gos HET Early adult 4.09×10-08
decreased mean platelet volume Dll1tm1Gos HET Early adult 3.07×10-32
increased leukocyte cell number Dll1tm1Gos HET Early adult 5.99×10-08
increased monocyte cell number Dll1tm1Gos HET Early adult 4.86×10-07
decreased circulating triglyceride level Dll1tm1Gos HET Early adult 3.58×10-27
increased blood urea nitrogen level Dll1m1Mhda HET Early adult 1.04×10-10
decreased body temperature Dll1tm1Gos HET Early adult 1.05×10-07
abnormal anxiety-related response Dll1tm1Gos HET Early adult 5.25×10-08
decreased circulating cholesterol level Dll1tm1Gos HET Early adult 1.38×10-08
abnormal whole-body plethysmography Dll1tm1Gos HET   Early adult 4.28×10-07
increased hemoglobin content Dll1tm1Gos HET Early adult 1.30×10-11
increased grip strength Dll1m1Mhda HET   Early adult 7.03×10-05
decreased circulating glucose level Dll1tm1Gos HET Early adult 1.99×10-06
decreased circulating triglyceride level Dll1m1Mhda HET Early adult 1.02×10-06
decreased circulating chloride level Dll1tm1Gos HET Early adult 1.66×10-10
Dll1tm1Gos HET Early adult 7.31×10-08
decreased tidal volume Dll1tm1Gos HET Early adult 9.08×10-09
decreased circulating calcium level Dll1tm1Gos HET Early adult 8.83×10-11
decreased circulating sodium level Dll1tm1Gos HET Early adult 1.00×10-12
abnormal eye electrophysiology Dll1tm1Gos HET Early adult 8.34×10-05
thrombocytopenia Dll1tm1Gos HET Early adult 7.10×10-08
decreased defecation amount Dll1tm1Gos HET Early adult 1.43×10-14
increased lymphocyte cell number Dll1tm1Gos HET Early adult 3.45×10-10
abnormal behavior Dll1m1Mhda HET   Early adult 8.01×10-05
decreased body weight Dll1tm1Gos HET Early adult 6.19×10-17
decreased vertical activity Dll1tm1Gos HET Early adult 8.60×10-06

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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 Dll1 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.

The table below shows human diseases associated to Dll1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Dll1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cervical Vertebral Bridge
Abnormality of the vertebral column OMIM:118000
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Chronic diarrhea, Complete or... OMIM:607271
Central Diabetes Insipidus
Polydipsia, Anorexia, Depression, Diarrhea, Fever, Hyponatremia, Failure to thrive, Weight loss, ... ORPHA:178029
Juvenile Paget Disease
Cranial hyperostosis, Hyperuricemia, Hypertension, Osteoporosis, Short stature, Coarse metaphysea... ORPHA:2801
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hypertension, Hyperostosis frontalis interna, Osteoporosis, Obesity, Osteoarthriti... ORPHA:77296
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia, Neutropenia OMIM:616949
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Anemia, Hemophagocyt... OMIM:267700
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic diarrhea, Inc... ORPHA:98813
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, Di... ORPHA:100924
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Osteopenia, Spinal rigidity, Prolonged QT interval, Elevated circulating he... OMIM:613327
Primary Intestinal Lymphangiectasia
Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Chronic diarrhea, Decreased c... ORPHA:90362
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgE, Chronic di... OMIM:300400
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating IgG level, Abnormal circu... OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Incr... OMIM:603553
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Increased circulating lactate dehydrogenase concentration, Splen... OMIM:619802
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, Chronic diarrhea, T lymphocytopenia, ... OMIM:619510
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Leukocytosis, Fever, Hyponatremia, Thrombocytopenia ORPHA:83601
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol... OMIM:617718
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Diarrhea, Bloody diarrhea, Leukocytosis, Temperature instability, V... ORPHA:391673
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Decr... OMIM:619924
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Loss of gluteal subcutaneous adipo... OMIM:604367
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Refractory Celiac Disease
Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra... ORPHA:398063
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A... OMIM:613493
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Failure to thri... OMIM:617744
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Dysplasia Of Head Of Femur, Meyer Type
Fever, Waddling gait, Leukocytosis, Antalgic gait ORPHA:168621
Alpha-Heavy Chain Disease
Hypocalcemia, Fever, Anemia, Splenomegaly ORPHA:100025
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hypocal... ORPHA:26793
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure to thri... OMIM:613845
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Macrocytic anemia, Hyperuricemia, Diarrhea, Hypoglycemia, Constipati... ORPHA:199299
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Hemophagocytosis, Elevated circulating C-reactive protein concentration, F... OMIM:619644
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Congenital Analbuminemia
Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, ... ORPHA:86816
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Abnormal circulating IgG level, Lymp... OMIM:616636
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Chronic dia... OMIM:269840
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Fever, Hyponatremia, Neutrop... ORPHA:1930
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Intestinal obstruction, Anemia, Iron deficiency anemia, Diarrhea, Decreased c... OMIM:226300
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r... OMIM:301082
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Failure to thrive, Abnormality of thrombocytes, Splenomegaly ORPHA:172
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabete... OMIM:612526
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... ORPHA:247585
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Failure to thrive, S... OMIM:214700
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circula... OMIM:619281
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... ORPHA:229
Immunodeficiency 15B
Chronic diarrhea, Monocytosis, Reduced natural killer cell count, Failure to thrive OMIM:615592
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Wolcott-Rallison Syndrome
Difficulty walking, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Lymphoc... ORPHA:1667
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Dengue Fever
Gastrointestinal hemorrhage, Diarrhea, Hypoproteinemia, Hypotension, Epistaxis, Cerebral hemorrha... ORPHA:99828
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Anemia, Hypokalemia, Hypocalcemia, Diarrhea, Cachexia, Vomiting, Hypomagnesemia, Hemato... OMIM:175500
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Decreased body weight, Pul... OMIM:616201
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Short stature OMIM:616311
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Chronic diarrhea, ... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Diarrhea, B lymphocytopenia, Decreased circulating IgG level, Decreas... OMIM:612692
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Increased circulating antibody level, Failure to thrive secondary to recurrent infectio... ORPHA:169160
Shigellosis
Anorexia, Acute colitis, Splenic abscess, Bloody diarrhea, Leukocytosis, Vomiting, Hyponatremia, ... ORPHA:810
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Abnormal na... ORPHA:331206
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hypothermia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Chorea, Tre... ORPHA:94093
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia, Abnormal blood phosphate concentration, Paresthesia OMIM:615361
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased circulating complement C3 concentration, Autoimmune hemolytic anemia, Absent isohemaggl... OMIM:615559
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Diarrhea, B lymphocytopenia, Neutropenia i... OMIM:607594
Immunodeficiency 22
Anemia, Decreased circulating IgE, Panniculitis, Capillary leak, Diarrhea, Failure to thrive, Per... OMIM:615758
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Gi... ORPHA:2494
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... ORPHA:169154
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul... OMIM:613500
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Chronic diarrhea, Fever, Failure to thrive, Thrombocytopenia, Weight loss, ... ORPHA:47
Aortic Aneurysm, Familial Thoracic 4
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... OMIM:132900
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas... OMIM:618969
Fanconi-Bickel Syndrome
Postnatal growth retardation, Rickets, Intrahepatic cholestasis, Elevated circulating alkaline ph... OMIM:227810
Whipple Disease
Polydipsia, Anorexia, Gastrointestinal hemorrhage, Anemia, Depression, Diarrhea, Cachexia, Fever,... ORPHA:3452
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperlipidemia, Hyperuricemia ORPHA:364
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Diarrhea, Abn... OMIM:240500
Alg8-Cdg
Anemia, Diarrhea, Vomiting, Hyponatremia, Failure to thrive, Thrombocytopenia, Ataxia, Small for ... ORPHA:79325
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Increased bone mineral density, Failure to thrive, Elevated circulating alk... OMIM:615198
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Fever, Recurrent fever, Thrombocytopenia, Splenom... OMIM:603552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Anemia, Elevated circulating hepatic transaminase concentration, Chroni... OMIM:615895
Mirage Syndrome
Hyperkalemia, Anemia, Gastroesophageal reflux, Chronic diarrhea, Decreased body weight, Hyponatre... OMIM:617053
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, B lymphocytopenia, Decreased circulating antibody level, Growth delay, Decreased circul... OMIM:614069
Folate Malabsorption, Hereditary
Irritability, Folate-responsive megaloblastic anemia, Diarrhea, Athetosis, Failure to thrive, Thr... OMIM:229050
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Malaria
Anemia, Gait imbalance, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia... ORPHA:673
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Hyperalaninemia, Failure to thrive, Intrauterine growth re... OMIM:619048
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Celiac Disease, Susceptibility To, 1
Delayed puberty, Postnatal growth retardation, Steatorrhea, Rickets, Elevated circulating hepatic... OMIM:212750
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia OMIM:617182
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Vomiting, Hyponatremia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Generalized bone demineralization, Short stature, Decreased circulati... OMIM:215250
Xq28 (MECP2) duplication
Inability to walk, Gastroesophageal reflux, Gait ataxia, Constipation, Failure to thrive, Dysphag... DECIPHER:45
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Hypothermia, Anemia, Episodic vomiting, Hyperuricemia, Diarrhea, Leukocytosis, Nonketot... ORPHA:20
Ataxia-Telangiectasia
Delayed puberty, Chronic diarrhea, T lymphocytopenia, Ataxia, Lymphopenia, Decreased circulating ... OMIM:208900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Abnormal immunoglobulin level, Increased circulating IgG level, Decreased proportion of... ORPHA:276
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia, Growth delay OMIM:306000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology OMIM:616911
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556037
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Chronic diarrhea, Increased proportion of transiti... OMIM:616005
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Bloody diarrhea, Leukocytosis, Ulc... OMIM:619398
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Steatorrhea, Elevated circulating hepa... OMIM:212065
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Impaired lymphocyte transformation with phytohemaggluti... OMIM:301000
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Hyperchloriduria, Hypokalemia, Impaired platelet aggregation, Diarrhea, Hypochloremia... OMIM:241200
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia, Lethargy OMIM:615026
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Congenital Enterovirus Infection
Irritability, Hypothermia, Anemia, Abnormal macrophage morphology, Leukocytosis, Fever, Hyperammo... ORPHA:292
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypertension, Hypercholesterolemia, Myocardial infarction OMIM:608320
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Lipoatrophy, Hyperuricemia, Loss of subcutaneous ... ORPHA:79083
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Leukocytosis, Fever, Hyponat... ORPHA:247353
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, L... OMIM:618963
Melorheostosis With Osteopoikilosis
Multiple lipomas, Hypertension, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Anorexia, Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean cor... OMIM:611590
Schnitzler Syndrome
Anemia, Increased bone mineral density, Vasculitis, Arthritis, Leukocytosis, Increased circulatin... ORPHA:37748
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hypokalemia, Diarrhea, Hypochloremia, Increased serum prostaglandin E2, Increas... OMIM:601678
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:616026
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hyperaldosteronism OMIM:613090
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Fever, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia ORPHA:2688
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Immunodeficiency 9
Amelogenesis imperfecta, Difficulty walking, Recurrent aphthous stomatitis, Abnormal natural kill... OMIM:612782
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... OMIM:607616
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Decreased circulating IgG level, Ataxia, Unsteady gait, Decreased circulatin... OMIM:300861
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Irritability, Hypokalemia, Acute colitis, Diarrhea, Bloody diarrhea, Leukocytosis, Reticulocytosi... ORPHA:90038
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Fever, Recurrent fever, Thrombocytopenia, Splenom... OMIM:613101
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Prolonged neonatal jau... OMIM:300972
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Increased vertebral height, Gastroesophageal reflux, Pancytopenia, Chron... OMIM:613385
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Short stature, Gout, Intrauterine growth retardation, Elevated circulating creatin... OMIM:617056
Rhabdoid Tumor
Irritability, Anemia, Fever, Hypercalcemia, Thrombocytopenia, Weight loss ORPHA:69077
N-Acetylglutamate Synthase Deficiency
Anorexia, Hypothermia, Hyperglutamatemia, Hyperalaninemia, Vomiting, Hyperammonemia, Failure to t... OMIM:237310
Legionnaires Disease
Anorexia, Diarrhea, Fever, Hyponatremia, Ataxia, Splenomegaly, Lymphopenia ORPHA:549
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Hyperuricemia, Hypertension, Hyperlipidemia, Osteoporosis, Short st... OMIM:232200
Maternal Uniparental Disomy Of Chromosome 4
Spastic gait, Impaired proprioception, Depression, Diarrhea, Decreased body weight, Elevated circ... ORPHA:96180
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Short... OMIM:239000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia OMIM:616871
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Vomiting, Hyponatremia, Recurrent fever, Increased circulating renin level, Failure... OMIM:203400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Scoliosis, Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, L... OMIM:619752
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Chronic diarrhea, Crohn's dise... OMIM:618394
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls OMIM:615883
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Stomatit... OMIM:308230
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Diarrhea, Fever, Acute ly... ORPHA:486
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperkalemia, Diarrhea, Vomiting, Hyponatremia, Failure to thrive, Hyperaldosteronism OMIM:264350
Posttransplant Acute Limbic Encephalitis
Depression, Hyponatremia, Dystonia, Ataxia ORPHA:163921
Bartter Syndrome, Type 5, Antenatal, Transient
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia OMIM:300971
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Bradycardia, Cardiac arrest, Hypertrophic cardiomy... OMIM:618235
Acute Adrenal Insufficiency
Hyperkalemia, Anorexia, Normocytic anemia, Hyperuricemia, Diarrhea, Increased circulating renin l... ORPHA:95409
2P21 Microdeletion Syndrome
Hypocalcemia, Failure to thrive, Hypoglycemia ORPHA:163693
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hypokalemia, Elevated circulating creatine kinase concentration, Gait disturbance, ... ORPHA:682
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect OMIM:608681
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Diarrhea, Ret... OMIM:275350
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Chronic diarrhea, Decreased specific antib... OMIM:617765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, T lymphocytopenia, Short stature, Failure to thrive, Increased circulating IgM level, D... OMIM:242860
Idiopathic Congenital Hypothyroidism
Bradycardia, Constipation, Prolonged neonatal jaundice, Delayed proximal femoral epiphyseal ossif... ORPHA:95717
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Glycogen Storage Disease V
Elevated circulating creatine kinase concentration, Failure to elevate ammonia on ischemic exerci... OMIM:232600
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia, Failure to thrive OMIM:143860
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos... OMIM:618982
Immunodeficiency 92
Abnormal B cell proliferation, Thrombocytosis, Decreased proportion of class-switched memory B ce... OMIM:619652
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating corticosterone level, Increased circulating renin level, Hypo... OMIM:610600
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Abnormal platelet function, Hypoproteinemia,... ORPHA:167
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive, Hyperammonemia, Int... OMIM:614702
Cholera
Irritability, Hypokalemia, Hypocalcemia, Diarrhea, Vomiting, Hyponatremia, Fever, Abnormal blood ... ORPHA:173
Bartter Syndrome Type 4
Severe failure to thrive, Hypokalemia, Emotional lability, Hypochloremia, Increased circulating r... ORPHA:89938
Immunodeficiency 32B
Anemia, Monocytopenia, Fever, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomegaly, Hy... OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Anemia, Hyperammonemia, Failure to thrive, Dystonia, Thrombocytopenia, Splenomegaly, Ch... ORPHA:79312
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop... OMIM:606367
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Diarrhea, Leukocytosis, Vomiting, Hyponatremia, Nausea, Hypomagnesemia... ORPHA:31824
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron ... OMIM:603909
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Diarrhea, Increased circulating renin level, Hyponatremia, Vomiting, Failure to thr... OMIM:177735
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Mildly elevated creatine kinase, Dysphagia, Bradycardia OMIM:620265
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Diarrhea, Vomiting, Failure to thrive, Decreased LDL cholestero... OMIM:246700
Primary Erythromelalgia
Abnormality of thrombocytes, Hypothermia, Leukemia ORPHA:90026
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hyperuricemia, Hypertension, Hypotension, Hyperammonemia, Weight loss, Oral ... ORPHA:134
Buschke-Ollendorff Syndrome
Osteopoikilosis, Scoliosis, Joint stiffness, Flexion contracture, Connective tissue nevi OMIM:166700
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Elevated circulating C-reactive protein ... OMIM:308240
Renal Hypoplasia, Bilateral
Hyperkalemia, Anemia, Hyponatremia, Glycosuria, Failure to thrive, Small for gestational age, Let... ORPHA:97362
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia, Failure to thrive, Decreased circulating cortisol level, Hypoglycemia OMIM:614736
Sepsis In Premature Infants
Hypothermia, Anemia, Elevated circulating C-reactive protein concentration, Diarrhea, Decreased b... ORPHA:90051
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... OMIM:611788
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Decreased HDL cholesterol concentration, Short stature, Failure to thrive, Decre... OMIM:616834
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Increas... ORPHA:556030
Glycogen Storage Disease Ixb
Growth delay, Short stature, Hyperuricemia OMIM:261750
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Omenn Syndrome
Anemia, Diarrhea, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Failure to thrive... OMIM:603554
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Diarrhea, Arthritis, Crohn's disease, Decreased circulating antibody... OMIM:616100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Increased circulating IgE level, Cutaneous abscess, Pulmonic stenosis, Spinal ca... OMIM:618282
Multiple Myeloma
Osteopenia, Tall stature, Anemia, Vertebral compression fracture, Increased circulating IgG level... ORPHA:29073
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Complete or near-complete absence of specific antibody response to tetan... OMIM:615401
Ataxia-Pancytopenia Syndrome
Anemia, Distal sensory impairment, Pancytopenia, Impaired vibration sensation in the lower limbs,... OMIM:159550
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia, Hypoglycemia, Vomiting OMIM:240200
Burkitt Lymphoma
Intestinal obstruction, Gastrointestinal hemorrhage, Hyperuricemia, Increased circulating lactate... ORPHA:543
Familial Glucocorticoid Deficiency
Hyperkalemia, Anorexia, Hypoglycemic seizures, Diarrhea, Ketotic hypoglycemia, Vomiting, Hyponatr... ORPHA:361
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Coenzyme Q10 Deficiency, Primary, 7
Intrauterine growth retardation, Dysphagia, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Aplasia of the thymus, B... OMIM:102700
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Impulsivity, Exaggerated startle response, Hypernatremia,... OMIM:620423
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia, ... ORPHA:94090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia, Failure to thrive, Hypera... OMIM:602522
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Increased T cell count, Splenomegaly, Intrauterine growth retardation, J... OMIM:620376
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Enterokinase Deficiency
Diarrhea, Failure to thrive, Hypoproteinemia OMIM:226200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Growth delay, Hypoalbuminemia, Small fo... OMIM:256300
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Elevated diastolic blood pressure, Hyperuricemia, Angina ... ORPHA:90041
Wilson Disease
Acute hepatic failure, Dysphagia, Splenomegaly, High nonceruloplasmin-bound serum copper, Joint h... OMIM:277900
Immunodeficiency 115 With Autoinflammation
Postnatal growth retardation, Intermittent diarrhea, Anemia, Partial absence of specific antibody... OMIM:620632
Addison Disease
Hyperkalemia, Anorexia, Normocytic anemia, Hyperuricemia, Diarrhea, Hypoglycemia, Increased circu... ORPHA:85138
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased circulating total IgG, Decreased lymphocyte proliferation in response to mi... ORPHA:221139
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Reduced natura... OMIM:619381
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T cells, Failure to thrive, D... ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc... OMIM:618048
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hyperactivity, Short stature, Failure to thrive, Motor stereotypy, Hyp... OMIM:610883
Sitosterolemia 1
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... OMIM:210250
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Hyperuricemia, Hypertension, Hyperlipidemia, Osteoporosis, Short st... OMIM:232220
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis OMIM:185500
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam... OMIM:212138
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Chronic diarrhea, Decreased circulating antibody level, Reduced circulati... ORPHA:90363
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia ORPHA:517
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase... OMIM:615703
Leishmaniasis
Anorexia, Anemia, Pancytopenia, Abnormal macrophage morphology, Recurrent fever, Leukopenia, Sple... ORPHA:507
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Hyperuricemia, Hyperlipidemia, Joint hemorrhage, Epistaxis, Intracra... ORPHA:35909
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Decreased LDL cholest... OMIM:615558
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Hyperuricemia ORPHA:261222
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi... OMIM:601419
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Neutropenia, Diarrhea, Failure to thri... OMIM:613501
Hypotonia-Cystinuria Syndrome
Hypocalcemia, Failure to thrive, Neonatal hypoglycemia, Polyphagia OMIM:606407
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Immunodeficiency 96
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... OMIM:619774
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia OMIM:620152
Mueller-Weiss Syndrome
Difficulty walking, Knee osteoarthritis, Arthritis, Facet joint arthrosis, Limitation of movement... ORPHA:566943
Hereditary Xanthinuria
Aldehyde oxidase deficiency, Hypouricemia, Reduced xanthine dehydrogenase level, Rheumatoid arthr... ORPHA:3467
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating renin ... ORPHA:171876
Meningococcal Meningitis
Anorexia, Irritability, Hypothermia, Elevated circulating C-reactive protein concentration, Proje... ORPHA:33475
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Br... ORPHA:99826
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Weight loss, Osteolysis ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Chronic diarrhea, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukopenia, Extramed... OMIM:615285
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Arterial stenosis, Coronary artery atherosclerosis ORPHA:1192
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Alg12-Cdg
Abnormal bone ossification, Elevated circulating hepatic transaminase concentration, Partial abse... ORPHA:79324
Flynn-Aird Syndrome
Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Ataxia, Increased ... OMIM:136300
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spontaneous Periodic Hypothermia
Hypothermia, Diarrhea, Tremor, Gait disturbance, Ataxia ORPHA:29822
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transamina... OMIM:607765
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Bradycardia, P... OMIM:616299
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Anemia, Diarrhea, Vacuolated lympho... ORPHA:275761
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Gastritis, Iron deficiency anemia, Reduced proportion of CD4-negativ... ORPHA:37042
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Kyphosis, T lymphocytopenia, Lymphopenia, Hypereosinophilia, Craniosynost... ORPHA:508533
Juvenile Nephropathic Cystinosis
Polydipsia, Elevated alkaline phosphatase of bone origin, Hypokalemia, Hypocalcemia, Hypouricemia... ORPHA:411634
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Xanthelasma, Hypertriglyceridemia, Delayed puberty, Hypercholesterolemia, Hyperuricem... ORPHA:79259
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Arthrogryposis multiplex congenita, Failure to ... OMIM:232500
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemic seizures, Difficulty walking, Hypocalcemia, Leukocytosis, Failure to t... ORPHA:289157
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:36913
Aicardi-Goutieres Syndrome 6
Irritability, Tremor, Dystonia, Loss of ambulation, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperkalemia, Vomiting, Hyponatremia, Increased circulating renin level, Hyperaldosteronism OMIM:620126
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Acute colitis, Diarrhea, Bloody diarrhea, Leukocytosis, Vomiting, Hyp... ORPHA:544482
Ataxia-Telangiectasia
Delayed puberty, Elevated circulating hepatic transaminase concentration, Decreased circulating a... ORPHA:100
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Myofibrillar Myopathy 11
Type 1 muscle fiber predominance, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increase... OMIM:619178
Wild Type Attr Amyloidosis
Congestive heart failure, Intermittent diarrhea, Bradycardia, Atrial fibrillation, Chronic diarrh... ORPHA:330001
Lesch-Nyhan Syndrome
Hyperuricemia, Gout ORPHA:510
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Hypothermia, Failure to thrive, Hypoglycemia, Hyperglycinemia OMIM:245400
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Chronic diarrhea, Megaloblastic anemia, Recurrent fever, Thrombocytopenia, ... OMIM:620603
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Immunodeficiency 27A
Anorexia, Anemia, Diarrhea, Leukocytosis, Fever, Hepatosplenomegaly, Splenomegaly, Weight loss, H... OMIM:209950
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Irritability, Vomiting, Hypernatremia, Constipation, Unexplained fevers, Failure to t... OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Irritability, Vomiting, Hypernatremia, Constipation, Unexplained fevers, Failure to t... OMIM:304800
Beta-Thalassemia
Irritability, Abnormality of temperature regulation, Abnormality of iron homeostasis, Anemia, Thr... ORPHA:848
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:259700
Porphyria Variegata
Anemia, Constipation, Hyponatremia, Abnormal circulating porphyrin concentration, Nausea, Ileus, ... ORPHA:79473
Osteopetrosis, Autosomal Recessive 5
Irritability, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Chorea, Hyperammonemia, Dystonia, Thrombocytopenia, Choreoathetosis, Lethargy, Neutropenia ORPHA:289916
Johanson-Blizzard Syndrome
Anemia, Hypoproteinemia, Short stature, Failure to thrive, Exocrine pancreatic insufficiency, Int... ORPHA:2315
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Amelogenesis imperfecta, Increased... OMIM:612783
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Flexion contr... OMIM:608093
Familial Hypoaldosteronism
Hyperkalemia, Diarrhea, Increased circulating renin level, Hyponatremia, Recurrent fever, Failure... ORPHA:427
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Systemic Lupus Erythematosus 17
Chorea, Fever, Recurrent fever, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocyto... OMIM:301080
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Hypophosphatasia
Hypercalcemia, Irritability, Anemia, Failure to thrive in infancy ORPHA:436
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Hyponatremia, Severe B lymphocytopenia, Decreased circulating cor... ORPHA:293978
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Enterocolitis, Cellulitis, Decreased circu... OMIM:614878
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:601859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Diarrhea, B lympho... OMIM:601457
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Hyperbilirubinemia, Vomiting, Failure to thrive, Thrombocytopenia, Splenomegaly, Ele... OMIM:251880
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Schimke Immunoosseous Dysplasia
Hypertension, Cerebral ischemia, Lymphopenia, Intrauterine growth retardation, Neutropenia, Pancy... OMIM:242900
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... OMIM:309548
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis ORPHA:820
Chylomicron Retention Disease
Steatorrhea, Impaired proprioception, Diarrhea, Vomiting, Failure to thrive, Hypocholesterolemia,... ORPHA:71
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocyto... OMIM:618775
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Reduced bone mineral density, Short stature, Decreased circulating ... OMIM:620210
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Anemia, Hypothermia, Diarrhea, Hypoglycemia, Increased blood urea nitrogen, Vom... ORPHA:230
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon... OMIM:620282
Japanese Encephalitis
Anorexia, Pill-rolling tremor, Diarrhea, Tremor, Vomiting, Hyponatremia, Fever, Neutrophilia, Opi... ORPHA:79139
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:2123
Congenital Isolated Acth Deficiency
Hyponatremia, Neonatal hypoglycemia, Decreased circulating cortisol level, Hypoglycemic seizures ORPHA:199296
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, Broad-base... OMIM:619705
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column OMIM:602475
Congenital Disorder Of Glycosylation, Type Iik
Unexplained fevers, Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase con... OMIM:614727
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Hypertrophic cardiomyopathy, Obesity, Intrauterine growth retardation, Aggressive ... OMIM:620270
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Short statu... ORPHA:100973
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Abnormal erythrocyte enzyme concentration or activity, Ataxia ORPHA:1187
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Growth delay, Failure to thrive, Atrioventricul... OMIM:614407
Molybdenum Cofactor Deficiency, Complementation Group C
Hypertaurinemia, Hypouricemia, Molybdenum cofactor deficiency, Hypocystinemia, Sulfite oxidase de... OMIM:615501
Cog4-Cdg
Irritability, Intermittent diarrhea, Thrombocytopenia, Hepatosplenomegaly, Ataxia, Failure to thr... ORPHA:263501
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level, Ataxia, Spastic ataxia, Gait disturbance ORPHA:2572
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Thrombotic Thrombocytopenic Purpura
Diarrhea, Reticulocytosis, Decreased serum creatinine, Fever, Thrombocytopenia, Microangiopathic ... ORPHA:54057
Alstrom Syndrome
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hyperuri... OMIM:203800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Croh... ORPHA:436159
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diarrhea, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus, Lethargy, Paresthesia ORPHA:49827
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hypothermia, Lethargy OMIM:610006
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Familial Thyroid Dyshormonogenesis
Bradycardia, Abnormal circulating thyroglobulin concentration, Constipation, Prolonged neonatal j... ORPHA:95716
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Osteochondrosis Of The Metatarsal Bone
Difficulty walking, Arthritis, Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Hypothermia OMIM:614654
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia OMIM:619302
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Impaired r... OMIM:231200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG level, Abnormally l... OMIM:618987
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Pancytopenia, Epiphyseal stippling, Gastroesophageal reflux, Short stat... ORPHA:251009
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive, Thrombocytopenia, Abno... OMIM:169400
Pearson Syndrome
Steatorrhea, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Chronic diarrhea, Hyperalaninemia, ... ORPHA:699
Smith-Kingsmore Syndrome
Large for gestational age, Rhizomelia, Thrombocytopenia, Umbilical hernia, Decreased circulating ... OMIM:616638
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Diarrhea, Increased circulating myelocyte count, Elevated circulating creatine kina... ORPHA:36234
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Neutr... ORPHA:331235
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Craniosynostosis, Accessory sple... OMIM:620005
Myh9-Related Disease
Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc... ORPHA:182050
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Carnitine-Acylcarnitine Translocase Deficiency
Irritability, Hypothermia, Hypoketotic hypoglycemia, Decreased circulating carnitine concentratio... ORPHA:159
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:94089
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Rhizomelia, Hypocalcemia, Failure to thrive, Decreased circulating IgG level... OMIM:607143
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy, Short stature DECIPHER:8
Propionic Acidemia
Anemia, Pancytopenia, Vomiting, Hyperammonemia, Constipation, Dystonia, Thrombocytopenia, Failure... OMIM:606054
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Diarrhea, Neutropenia in pre... ORPHA:572
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Postnatal growth retardation, Osteopetrosis, Anemia, Increased bone mineral density... OMIM:620366
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Abetalipoproteinemia
Kyphoscoliosis, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating hepati... ORPHA:14
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Biconcave vertebral bodies... ORPHA:93284
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h... ORPHA:2790
Hypoparathyroidism, Familial Isolated, 1