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

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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
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Porphyria Due To Ala Dehydratase Deficiency
Nausea, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin concen... ORPHA:100924
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Hypoproteinemia, Neutropenia, Hypoalbuminemia, Secretory diarrhe... OMIM:600351
Necrotizing Enterocolitis
Bloody diarrhea, Leukocytosis, Hyponatremia, Small for gestational age, Peritonitis, Lethargy, Ne... ORPHA:391673
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Ataxia, Cerebral vasculit... OMIM:613179
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Juvenile Paget Disease
Cranial hyperostosis, Recurrent fractures, Osteoporosis, Hyperuricemia, Short stature, Hypertensi... ORPHA:2801
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Ileus, Flexion contracture, Osteopenia, Bradycardia, Constipation, Hyperlordosis, ... OMIM:613327
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Central Diabetes Insipidus
Hyponatremia, Anxiety, Fever, Lethargy, Failure to thrive, Diarrhea, Depression, Weight loss ORPHA:178029
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Lethal Congenital Contracture Syndrome 3
Neonatal death, Multiple joint contractures, Arthrogryposis multiplex congenita, Skeletal muscle ... OMIM:611369
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Hyponatremia, Ataxia OMIM:616949
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hyponatremia, Anxiety, Fever, Depression, Thrombocytopenia ORPHA:83601
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Respiratory failure, Hyperuricemia, Pulmonary arterial hypertension, An... OMIM:613845
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Obesity, Osteoporosis, Osteoarthritis, Hyperuricemia, Hypertension, Hyperos... ORPHA:77296
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Decreased circulating total IgM, Hypoproteinemia, Decreased prop... ORPHA:90362
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Failure to thrive, Lymphocytosis, Thrombocytopenia, Decrease... OMIM:617718
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Sitosterolemia 2
Premature coronary artery atherosclerosis, Tendon xanthomatosis OMIM:618666
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissue, ... OMIM:604367
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Intermittent diarrhea, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Ne... OMIM:619644
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Arrhythmia, Hyperuricemia ORPHA:3222
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Leukocytosis, Fever, Waddling gait ORPHA:168621
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:612692
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Elevated alkaline phosphatas... ORPHA:398063
Hyperlysinemia, Type I
Anemia, Hyperactivity, Hyperlysinemia OMIM:238700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Monocytosis, Leukocytosis, Thrombocytosis, Colitis, Neutrophilia, Chronic di... OMIM:619281
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular fibrillation, Hypoproteinemia, Ventricular tachycardia, Small... ORPHA:26793
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperaldosteronism, Diarrhea OMIM:214700
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly, Fever ORPHA:100025
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Hyponatremia, Leukocytosis, Neutrophilia, Ele... ORPHA:1930
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Insulin resistance, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Diabete... OMIM:612526
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Pulmonary embolism, Decreased circulating antibody level, Growth... OMIM:226300
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Malaria
Elevated circulating C-reactive protein concentration, Fever, Anemia, Hyperbilirubinemia, Respira... ORPHA:673
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level, Absent circ... OMIM:613500
Neuroleptic Malignant Syndrome
Nausea, Dysphagia, Hypomagnesemia, Thrombocytopenia, Tremor, Thrombocytosis, Hypocalcemia, Aspira... ORPHA:94093
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Splenomegaly, Abnormality of thrombocytes ORPHA:172
Niemann-Pick Disease, Type B
Splenomegaly, Dyspnea, Anemia, Bone-marrow foam cells, Decreased DLCO, Hypertriglyceridemia, Incr... OMIM:607616
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Kyphosis, Flexion contracture, Osteopenia, Thrombocytosis, Decre... OMIM:212065
Intellectual Developmental Disorder, Autosomal Dominant 33
Short stature, Decreased body weight, Hyperactivity OMIM:616311
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Hypocalcemia, Thrombocytopenia, Chronic diarrhea, Fever, Neutrope... ORPHA:47
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Decreased circula... OMIM:607594
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Gastroesophageal reflux, Ataxia, Failure to thrive, Respiratory distress OMIM:618426
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Osteoporosis, ... OMIM:610947
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Type I diabetes mellitus, Normocytic anemia, Hyponatremia, Hypercalce... ORPHA:199299
Dengue Fever
Hypoproteinemia, Leukopenia, Gastrointestinal hemorrhage, Hypotension, Lethargy, Cerebral hemorrh... ORPHA:99828
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndro... OMIM:616201
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Insulin resistance, Splenomegaly, Ataxia, Cough, Fever... ORPHA:3452
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hyponatremia, Fever, Neutropenia, Iron ... ORPHA:1667
Insulin-Like Growth Factor I Deficiency
Decreased body weight, Osteopenia, Intrauterine growth retardation, Hyperactivity, Short stature OMIM:608747
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Immunodeficiency 70
Decreased circulating total IgM, Achalasia, Colitis, Decreased circulating total IgG, Decreased p... OMIM:618969
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... OMIM:615559
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Decreased c... OMIM:613502
Mirage Syndrome
Hypoplastic spleen, Hypoglycemia, Achalasia, Leukopenia, Hyponatremia, Decreased body weight, Hyp... OMIM:617053
Shigellosis
Bloody diarrhea, Nausea, Leukocytosis, Hypoglycemia, Hyponatremia, Pneumonia, Microangiopathic he... ORPHA:810
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, Failure to thrive,... OMIM:603554
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Pleural effusion, Fever, Neutropenia, A... ORPHA:292
Rhabdoid Tumor
Hypercalcemia, Fever, Anemia, Irritability, Respiratory insufficiency, Thrombocytopenia, Weight loss ORPHA:69077
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Hypercholesterolemia OMIM:608320
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Eosinophilia, Recurrent pneumonia, Autoimmune hemolytic anemia, A... OMIM:301000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperlipidemia, Hyperuricemia ORPHA:364
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Fever, Neutropenia,... OMIM:603552
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Failure to thrive in infancy, Small for gestationa... OMIM:617241
Snakebite Envenomation
Hyponatremia, Pseudobulbar paralysis, Respiratory failure, Respiratory paralysis, Neuromuscular d... ORPHA:449285
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Intrauterine growth retardation, Congestive heart failure, Failure to thrive, Decreased plasma fr... OMIM:619048
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Vomiting, Elevated plasma citrulline, Leth... ORPHA:247585
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... ORPHA:169160
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Sinusitis, Pneumonia, Absent microvilli on the surface of periphe... OMIM:600903
Alg8-Cdg
Hyponatremia, Small for gestational age, Ataxia, Anemia, Failure to thrive, Thrombocytopenia, Dia... ORPHA:79325
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Asthma, Acute myeloid leukemia, Refractory anemia OMIM:616871
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Leukocytosis, Nonketotic hypoglycemia, Weight loss, Thrombocytosis, Recurrent hypogly... ORPHA:20
Lichtenstein Syndrome
Enamel hypoplasia, Increased susceptibility to fractures, Osteoporosis, Decreased circulating IgA... OMIM:246550
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:276
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Growth delay, Failure to thrive, Decreased circulating antibody level OMIM:617744
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Abnormal circulating corticosterone level, Hyper... ORPHA:556037
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Generalized bone demineralization, Decreased circulating IgA level, Sh... OMIM:215250
Colchicine Poisoning
Nausea, Hypokalemia, Leukocytosis, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, ... ORPHA:31824
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyponatremia, Malignant hyperthermia, Hyperkalemia, Elevated circulating creatine ki... ORPHA:682
Ménétrier Disease
Nausea, Hypoproteinemia, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Vomiting, Gas... ORPHA:2494
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Increased su... OMIM:619752
Cholera
Hypokalemia, Hypoglycemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Tachypne... ORPHA:173
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Legionnaires Disease
Restrictive ventilatory defect, Hyponatremia, Splenomegaly, Ataxia, Cough, Fever, Respiratory ins... ORPHA:549
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Celiac Disease, Susceptibility To, 1
Stomatitis, Enamel hypoplasia, Thrombocytosis, Vomiting, Hypocalcemia, Osteoporosis, Ataxia, Decr... OMIM:212750
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Hypoglycemia, Hypothermia, Lethargy OMIM:615026
Hypocalcemia, Autosomal Dominant 2
Paresthesia, Hypocalcemia OMIM:615361
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Constipation, Decreased circulating IgA level, Decreased circula... OMIM:617062
Posttransplant Acute Limbic Encephalitis
Dystonia, Hyponatremia, Anxiety, Ataxia, Depression ORPHA:163921
Hepatocellular Carcinoma
Hypokalemia, Hypoglycemia, Hyponatremia, Weight loss, Hypercalcemia, Thrombocytosis, Fever, Dyspn... ORPHA:88673
Xq28 (MECP2) duplication
Constipation, Gastroesophageal reflux, Inability to walk, Decreased circulating IgA level, Gait a... DECIPHER:45
Chédiak-Higashi Syndrome
Pancytopenia, Abnormal leukocyte morphology, Anemia, Abnormality of neutrophil physiology, Thromb... ORPHA:167
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Hypoadrenocorticism, Familial
Hypoglycemia, Hyponatremia, Hyperkalemia, Apnea, Vomiting OMIM:240200
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Lipoatrophy, Hyperuricemia, Hypertension, ... ORPHA:79083
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Pneumonia, Acute myeloid leukemia, Fever, Recurrent aphthous... ORPHA:486
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypokalemia, Hypocalcemia, Paresthesia, Anemia, Cachexia, Hypomagnesemia, Xerostomi... OMIM:175500
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypochloremia, Increased circulating renin level, Constipation, Hypercalcemia, Incre... OMIM:601678
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating total IgM, Kyphosis, Decreased circulating... OMIM:300861
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 47
Exocrine pancreatic insufficiency, Accessory spleen, Decreased circulating total IgG, Thrombocyto... OMIM:300972
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Schistocytosis, Leukocytosis, Hypokalemia, Elevated circulating creatinine conce... ORPHA:90038
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Purine Nucleoside Phosphorylase Deficiency
Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Autoimmune hemolytic a... ORPHA:760
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Dysmetria, Spastic gait, Decreased body weight, Impaired vibratory sensatio... ORPHA:96180
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Thrombocytopenia, Weight loss ORPHA:517
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Azotemia, Familial
Azotemia OMIM:109160
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Recurrent fever... OMIM:203400
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Immunodeficiency 92
Decreased circulating IgG level, Leukocytosis, Thrombocytosis, Decreased circulating IgA level, C... OMIM:619652
Adult Idiopathic Neutropenia
Monocytosis, Fever, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume, Epistaxis OMIM:273900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Large for gestational age, Hypouricemia, Short stature, Elevated hepatic transaminase, Hypophosph... OMIM:616026
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Thoracic kyphoscoliosis, Portal hypertension, Failure to thrive in infancy, Increas... OMIM:613385
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Increased circulating IgM level, Splenomegaly, Anem... ORPHA:37748
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia OMIM:614736
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short stature, Hyperactivity DECIPHER:19
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, T lymphocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Decreased propor... OMIM:606367
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Increased circulating renin level, Hyperkalemia, Coug... ORPHA:171876
Fanconi-Bickel Syndrome
Hypokalemia, Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Failure to thrive, ... OMIM:227810
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Failure to thrive, Hyperaldosteronism, Diarrhea, Vomiting OMIM:264350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Decreased circulating IgA level, Failure to t... OMIM:242860
Chylomicron Retention Disease
Impaired vibratory sensation, Vomiting, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, ... OMIM:246700
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Truncal obesity, Hyperuricemia, Short stature, ... OMIM:203800
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Anxiety, Hypocalcemia, Dyspnea, Paresthesia, Irritability, Laryngeal dysto... ORPHA:36913
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Hyponatremia, Recurrent hypoglycemia, Autoim... ORPHA:293978
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Falls OMIM:615883
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Increased circulating 18-hydroxyco... OMIM:610600
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Hypertension, Osteopoikilosis ORPHA:1879
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Impaired platelet aggregation, Hypochloremia, Constipation, Increased circulating re... OMIM:241200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Autoimmune thr... OMIM:616100
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Osteopenia, Increased bone mineral density, Recurrent fractures, Osteoporosis, Hype... OMIM:239000
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Hypoglycemia ORPHA:163693
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume, Epist... OMIM:313900
Immunodeficiency 17
Failure to thrive, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Failure to thrive, Hyperaldosteron... OMIM:177735
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Neonatal respiratory distress, Respiratory failure, Respiratory insufficiency, Fail... OMIM:245400
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Short stature, Hypocholesterolemia, D... OMIM:616834
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Decreased circulating total IgM, Chronic neutropen... OMIM:614700
Glycogen Storage Disease Ia
Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma, Short stature, Hypertension, Gout, Dela... OMIM:232200
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat... ORPHA:275
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Porphyria Variegata
Ileus, Nausea, Somatic sensory dysfunction, Hyponatremia, Constipation, Anxiety, Anemia, Respirat... ORPHA:79473
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Failure to thrive, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies, Thrombocytopenia, Epist... OMIM:605249
Primary Erythromelalgia
Leukemia, Abnormality of thrombocytes, Hypothermia ORPHA:90026
Spontaneous Periodic Hypothermia
Tremor, Ataxia, Abnormal pattern of respiration, Gait disturbance, Diarrhea, Hypothermia ORPHA:29822
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Hypothermia, ... OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Abnormal circulating corticosterone level, Hyper... ORPHA:556030
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Constipation, Lethargy, Prolonged neonatal jaun... ORPHA:95717
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Scoli... OMIM:609813
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Elevated circulating C-... OMIM:616050
Hypophosphatasia
Emphysema, Failure to thrive in infancy, Hypercalcemia, Anemia, Irritability, Respiratory insuffi... ORPHA:436
Pancytopenia And Occlusive Vascular Disease
Peripheral arterial stenosis OMIM:167850
Intellectual Developmental Disorder, X-Linked 72
Short stature, Hyperactivity OMIM:300271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout, Short stature, Intrauterine growth retardation, Hyperuricemia OMIM:617056
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Ataxia-Telangiectasia
Decreased circulating IgG level, T lymphocytopenia, Elevated alpha-fetoprotein, Leukemia, Defecti... OMIM:208900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Partial absence o... OMIM:240500
Infection-Related Hemolytic Uremic Syndrome
Bloody diarrhea, Nausea, Leukocytosis, Brain abscess, Hyponatremia, Pneumonia, Hyperkalemia, Hypo... ORPHA:544482
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Failure to thrive, Diarrhea, Agammaglobulinemia OMIM:613501
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Coenzyme Q10 Deficiency, Primary, 7
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Scoliosis, Dysphagia, Bradycardia OMIM:616276
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Neutropenia, Anemia, Pulmonary arterial hypertension, Fail... OMIM:612541
Glycogen Storage Disease Ib
Hyperlipidemia, Osteoporosis, Hyperuricemia, Xanthelasma, Short stature, Hypertension, Gout, Dela... OMIM:232220
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Schmorl's node, Beaking of vertebral bodies, Platyspondyly OMIM:604864
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Irritability, Abnormal ... ORPHA:848
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Lethargy, Failure to thrive, Hemolytic anemia, Reticulocytosis, ... OMIM:611590
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies, Thrombocytopenia, Epist... OMIM:155100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Gastrointestinal h... OMIM:603909
Burkitt Lymphoma
Increased circulating lactate dehydrogenase concentration, Gastrointestinal hemorrhage, Decreased... ORPHA:543
Hyperchlorhidrosis, Isolated
Hyperkalemia, Failure to thrive, Hyponatremia OMIM:143860
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Small for gestationa... ORPHA:89938
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Paresthesia, Laryngeal dystonia, Hyperphosphatemia, Hypocalc... ORPHA:94090
Ataxia-Pancytopenia Syndrome
Pancytopenia, Dysmetria, Hypoplastic anemia, Ataxia, Impaired vibration sensation in the lower li... OMIM:159550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Splenomegaly, Lethargy, Neutropenia, Anemia, Failure to thrive, Respir... ORPHA:79312
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia, Diarrhea OMIM:226200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, Panhypogammaglobulinemia, Diarrhea, B lymphocytopenia, Fail... OMIM:601457
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Splenomegaly, Diarrhea OMIM:269840
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Folate Malabsorption, Hereditary
Leukopenia, Athetosis, Ataxia, Folate-responsive megaloblastic anemia, Neutropenia, Failure to th... OMIM:229050
Acute Adrenal Insufficiency
Hypoglycemia, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, ... ORPHA:95409
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Anxiety, Hypocalcemia, Dyspnea, Paresthesia, Irritability, Laryngeal dysto... ORPHA:94089
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Gastroesophageal reflux, Growth delay... OMIM:256300
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Multiple Myeloma
Osteopenia, Vertebral compression fracture, Increased circulating IgG level, Elevated circulating... ORPHA:29073
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Osteopenia, Decreased circulating total IgG, Decreased lymphocyt... ORPHA:221139
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Choreoathetosis, Lethargy, Neutropenia, Anemia, Chorea, Respiratory distress, Thrombocy... ORPHA:289916
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Respiratory failure, Splenomegaly, Anemia, Hypochromic ... OMIM:259720
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Constrictive pericarditis, Decreased circulating IgG1 level, Dec... ORPHA:90363
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Gastrointestinal hemorrhage, Hyperuricemia, Joint hemorrhage, Intracranial hemorr... ORPHA:35909
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Fever, Dyspnea, Reticulocytosis, Microangiopathic hemolytic anemia, T... ORPHA:54057
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Increased circulating IgM level, Incre... OMIM:617099
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Hyperalaninemia, Intrauterine growth retardation OMIM:614654
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Gaisböck Syndrome
Hypovolemia, Increased circulating renin level, Elevated diastolic blood pressure, Hypercholester... ORPHA:90041
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume, Epistaxis OMIM:615193
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... ORPHA:230
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy, A... OMIM:618987
Slc35A1-Cdg
Pneumonia, Hypoxemia, Giant platelets, Abnormal platelet granules, Neutropenia, Respiratory distr... ORPHA:238459
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hyponatremia, Vacuolated lymphocytes, Hypercholesterolemia, Weight loss, Vomi... ORPHA:275761
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Congestive heart failure, Obesity, Myocardial infarction, Hypertension, Hyp... OMIM:615703
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Hyperventilation, ... OMIM:618775
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia, Hypomagnesemia... ORPHA:37042
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia, Extramedullar... OMIM:615285
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Hyperuricemia ORPHA:261222
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Cellulitis, Cutaneous abscess, ... OMIM:618944
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Monocytosis OMIM:610680
Mu-Heavy Chain Disease
Splenomegaly, Osteoporosis, Abnormal B cell count, Anemia, Osteolysis, Weight loss ORPHA:100024
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus ORPHA:79094
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Apneic episodes in infancy, Hypothermia, Lethargy OMIM:610006
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Vertebral clefting, Short neck, Hemivertebrae OMIM:608681
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Hereditary Xanthinuria
Hypouricemia, Rheumatoid arthritis, Aldehyde oxidase deficiency, Sulfite oxidase deficiency, Redu... ORPHA:3467
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Mucoid diarrhea, Growth delay, Inflammation of ... OMIM:615767
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
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
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Fever, Lethargy, Paresthesia, Irritability... ORPHA:33475
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Sinusitis, Nausea, Pneumonia, Elevated circulating cre... ORPHA:36234
Arterial Calcification, Generalized, Of Infancy, 1
Arterial stenosis, Coronary artery calcification, Generalized arterial calcification OMIM:208000
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Leukocytosis, Elevated circulating creatinine... ORPHA:90060
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Elevated circulating acylcarnitine concentration, Decreased plasma carnitin... ORPHA:159
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Decreased body weight, Leukocytosis, Small for... ORPHA:90051
Ataxia-Telangiectasia
Mucosal telangiectasiae, Ataxia, Decreased circulating antibody level, Telangiectasia of the skin... ORPHA:100
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia, Increased total bilirubin OMIM:616299
Juvenile Nephropathic Cystinosis
Hypovolemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcem... ORPHA:411634
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced ... OMIM:231200
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Hyperkalemia, Lethargy, Failure to thrive, Diarr... ORPHA:427
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Choreoathetosis, Ataxia, Lethargy, Anemia, Macrocytic anemia, Respiratory insufficien... ORPHA:27
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Hypocalcemia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:259700
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia, Growth delay OMIM:617248
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Growth delay, Anemia, ... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Hyponatremia, Weight loss, Constipation, Hyperkalemi... ORPHA:361
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hereditary Coproporphyria
Nausea, Hyponatremia, Episodic vomiting, Respiratory insufficiency, Abnormal circulating porphyri... ORPHA:79273
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Retinal telangiectasia, Reduced delayed hypersensitivity OMIM:267900
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Rhinitis, Hypoalb... ORPHA:507
Lesch-Nyhan Syndrome
Gout, Hyperuricemia ORPHA:510
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Neutrophil inclusion bodies, Congenital thromb... ORPHA:182050
Chylomicron Retention Disease
Impaired proprioception, Vomiting, Acanthocytosis, Failure to thrive, Hypocholesterolemia, Diarrh... ORPHA:71
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Weight loss, Splenome... OMIM:209950
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Crohn's disease, Wolff-Parkinso... OMIM:619705
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618815
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Addison Disease
Hypoglycemia, Type I diabetes mellitus, Normocytic anemia, Hyponatremia, Increased circulating re... ORPHA:85138
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hypoglycemia, Hyponatremia, Pneumonia, Hyperkalemia, Decreased circulating cortisol level, Fever,... ORPHA:90790
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypoglycemia, Megaloblastic anemia, Pulmonary embolism, Methylmalonic acidem... ORPHA:79282
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Marburg Hemorrhagic Fever
Nausea, Hypoglycemia, Hypokalemia, Elevated circulating creatinine concentration, Aggressive beha... ORPHA:99826
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Mueller-Weiss Syndrome
Limitation of movement at ankles, Joint stiffness, Sclerosis of foot bone, Knee osteoarthritis, F... ORPHA:566943
Acute Intermittent Porphyria
Ileus, Somatic sensory dysfunction, Hyponatremia, Constipation, Anxiety, Tremor, Fever, Respirato... ORPHA:79276
Propionic Acidemia
Pancytopenia, Hypoglycemia, Dystonia, Constipation, Tachypnea, Lethargy, Neutropenia, Anemia, Fai... OMIM:606054
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia, Gastrointestinal hemorrhage OMIM:137560
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hypotension, Ataxia, Hyperuricemia, Oral aversion, Hypertension, Di... ORPHA:134
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Japanese Encephalitis
Hyponatremia, Dystonia, Opisthotonus, Choreoathetosis, Pill-rolling tremor, Neutrophilia, Irregul... ORPHA:79139
Alg12-Cdg
Abnormal circulating IgM level, Partial absence of specific antibody response to Haemophilus infl... ORPHA:79324
Smith-Kingsmore Syndrome
Large for gestational age, Rhizomelia, Decreased circulating IgA level, Umbilical hernia, Thrombo... OMIM:616638
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Leukemia, Small for gestational... OMIM:210900
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Oste... OMIM:136300
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Osteopenia, Hypercholesterolemia, Osteoporosis, Growth delay, Increased susceptib... ORPHA:79259
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Failure to thrive, Thrombocytopenia, Unexplai... OMIM:614727
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Elevated... OMIM:212138
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Neutrophilia, Elevated c... ORPHA:91547
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hypoproteinemia, Intrauterine growth retardation, Anemia, Shor... ORPHA:2315
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive, Giant cell ... OMIM:607765
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Feve... ORPHA:229717
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Abnormal CD4:CD8 ratio, Lack of T cell function, Decreased circu... ORPHA:572
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Hyponatremia, Hypoglycemic seizures ORPHA:199296
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Pulmonary insufficiency, Lack of T cell function, Failure to thrive, B lymphoc... ORPHA:277
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Kyphosis, Vertebral compression fracture, Increased bone mineral densit... ORPHA:77259
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Wild Type Attr Amyloidosis
Intermittent diarrhea, Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyo... ORPHA:330001
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Lethal Ataxia With Deafness And Optic Atrophy
Abnormal erythrocyte enzyme level, Ataxia, Hypouricemia ORPHA:1187
Holocarboxylase Synthetase Deficiency
Tachypnea, Ataxia, Lethargy, Irritability, Respiratory distress, Thrombocytopenia, Weight loss, H... ORPHA:79242
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Constipation, Lethargy, Prolonged neonatal jaun... ORPHA:95716
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activ... OMIM:308240
Buschke-Ollendorff Syndrome
Connective tissue nevi, Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Constipation, Fever, Anemia, Failure to thrive, Irr... OMIM:241500
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level, Spastic ataxia, Ataxia, Gait disturbance ORPHA:2572
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Platyspondyly, Joint hypermo... OMIM:614856
Atrial Standstill 2
Atrial standstill, Scarring, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave... OMIM:615745
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Disproporti... ORPHA:508533
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Fechtner syndrome
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:153640
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Osteomalacia, Anemia, Hepatitis, Diarrhea, Reduced natural kille... OMIM:619381
Molybdenum Cofactor Deficiency, Complementation Group C
Hypocystinemia, Hypouricemia, Sulfite oxidase deficiency, Hypertaurinemia, Molybdenum cofactor de... OMIM:615501
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Growth delay, Failure to thrive, Atrioventricular block, Bra... OMIM:614407
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Selective Igm Deficiency
Decreased circulating total IgM, Cellulitis, Decreased proportion of CD8-positive T cells, Decrea... ORPHA:331235
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Elevated alpha-fetoprotein, Art... ORPHA:420741
Pituitary Apoplexy
Hypoglycemia, Hyponatremia, Fever, Normochromic anemia, Increased circulating cortisol level ORPHA:95613
Timothy Syndrome
Hypocalcemia, Hypoglycemia, Pneumonia OMIM:601005
Abetalipoproteinemia
Anemia, Hyperbilirubinemia, Impaired distal proprioception, Positive Romberg sign, Decreased LDL ... ORPHA:14
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture, Inguinal hernia OMIM:614498
Pelger-Huet Anomaly
Giant platelets, Abnormality of neutrophils, Neutropenia, Failure to thrive, Hyposegmentation of ... OMIM:169400
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Babesiosis
Leukopenia, Splenomegaly, Cough, Fever, Hemolytic anemia, Respiratory insufficiency, Depression, ... ORPHA:108
Potocki-Lupski Syndrome
Small for gestational age, Hyperactivity, Failure to thrive, Short stature, Hypocholesterolemia OMIM:610883
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Intrauterine growth retardation... ORPHA:125
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Refractory Anemia
Normocytic anemia, Dyspnea, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadeq... ORPHA:98826
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Constipation, Intermittent hypothermia, Gastroesophageal refl... OMIM:608643
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture, Elevated hepatic transaminase, Jaundice OMIM:608093
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Colitis, Splenomega... OMIM:300635
Sneddon Syndrome
Arterial stenosis ORPHA:820
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300755
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal a... OMIM:615513
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Hypotension,... OMIM:616000
Isolated Osteopoikilosis
Keloids, Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Scle... ORPHA:166119
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Elevated alpha-fetoprotein, Leukemia, Decreased circulating IgA level, Ataxia, Conjunctival telan... OMIM:208910
Chronic Bilirubin Encephalopathy
Hypernatremia, Fever, Hemolytic anemia, Hypoalbuminemia, Central apnea, Neonatal hyperbilirubinemia ORPHA:529808
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Ectopic ossification, Increased bone mineral density OMIM:602475
Acute Bilirubin Encephalopathy
Fever, Hemolytic anemia, Central apnea, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the vertebral bodies ORPHA:2064
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Constipation, Unexplained fevers, Failure to thrive, Irritability, Hypernatremia, Vomiting OMIM:125800
Aapoaiv Amyloidosis
Sinus bradycardia, Hyperlipidemia, Atrial flutter, Paraproteinemia, Elevated circulating creatini... ORPHA:439232
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Constipation, Unexplained fevers, Failure to thrive, Irritability, Hypernatremia, Vomiting OMIM:304800