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Gene: Dll1 MGI:104659

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Gene Summary

Name:
delta like canonical Notch ligand 1
Synonyms:
Delta1

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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

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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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology OMIM:618709
Semilobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Inability to walk, Anxiety, Limb dystoni... ORPHA:220386
Alobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Inability to walk, Anxiety, Limb dystoni... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Inability to walk, Anxiety, Limb dystoni... ORPHA:93926
Lobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Inability to walk, Anxiety, Limb dystoni... ORPHA:93924
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology ORPHA:280195
Microform Holoprosencephaly
Holoprosencephaly, Tetralogy of Fallot, Panhypopituitarism ORPHA:280200

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
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae OMIM:616566
Porphyria Due To Ala Dehydratase Deficiency
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Abnormal fear/anxiety-re... ORPHA:100924
Central Diabetes Insipidus
Diarrhea, Weight loss, Anxiety, Failure to thrive, Fever, Depression, Hyponatremia, Lethargy, Pol... ORPHA:178029
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Short stat... OMIM:607271
Necrotizing Enterocolitis
Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Diarrhea, Neutropenia, Small for gestati... ORPHA:391673
Juvenile Paget Disease
Hyperuricemia, Recurrent fractures, Short stature, Coarse metaphyseal trabecularization, Hyperten... ORPHA:2801
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating inosine concentr... OMIM:613179
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia, Ataxia, Hyponatremia OMIM:616949
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Primary Basilar Invagination
Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology ORPHA:2285
Morgagni-Stewart-Morel Syndrome
Hyperuricemia, Hyperostosis frontalis interna, Hypertension, Hypercholesterolemia, Obesity, Osteo... ORPHA:77296
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Irritabi... OMIM:267700
Immunodeficiency 24
Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced proportion of mucosal-associate... OMIM:615897
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Leukopenia, Hyperuricemia, Anemia, Pa... OMIM:613845
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Bloody diarrhea, Lymphocytosis, Failure to thrive, Recurrent pneumonia, Colonic eosinophilia, Inf... OMIM:617718
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Weig... ORPHA:90362
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Splenomegaly, Flexion contracture, Spinal rigidity, Elevated hepatic transaminase,... OMIM:613327
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Irritability, Ataxia, Hepatosplenomegaly, Pancytop... OMIM:603553
Immunodeficiency 97 With Autoinflammation
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eos... OMIM:619802
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Reduced natural killer cell count, Vomiting, Decreased proportion of CD4-positive... OMIM:619510
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Neutrophilia, Persistent fever, Hepatosplenomegaly, Pleural effusion, Fail... OMIM:619644
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Immunodeficiency 48
Panhypogammaglobulinemia, Diarrhea, Failure to thrive, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Herpes Simplex Virus Encephalitis
Neutrophilia, Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponat... ORPHA:1930
Lipodystrophy, Familial Partial, Type 3
Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adipose tissue, ... OMIM:604367
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Weight loss, Normocytic anemia, Hypophosphatemia, E... ORPHA:398063
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Fever, Leukocytosis, Waddling gait ORPHA:168621
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hyperuricemia, Hypertension, Arrhythmia ORPHA:3222
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Increased circulating free fatty acid level, Small for gestational age, Jaundice, Eleva... ORPHA:26793
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Decreased circulating antibody level, Decreased serum creatinine, Hypohomocysteine... OMIM:617744
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Congenital Analbuminemia
Low pulse pressure, Increased circulating antibody level, Small for gestational age, Increased al... ORPHA:86816
Immunodeficiency 44
Abnormal circulating IgG level, Elevated circulating alanine aminotransferase concentration, Decr... OMIM:616636
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Intention tremor, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent pneumonia, Inflammation of the la... OMIM:619281
Alpha-Heavy Chain Disease
Hypocalcemia, Fever, Splenomegaly, Anemia ORPHA:100025
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, Increased circulating interleukin 6 concen... OMIM:301082
Familial Aortic Dissection
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... ORPHA:229
Neuroleptic Malignant Syndrome
Hypothermia, Elevated circulating creatine kinase concentration, Hyponatremia, Dysphagia, Thrombo... ORPHA:94093
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Vomiting, Diarrhea, Decreased circulating antibody level, Hypoprotein... OMIM:226300
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Fever, Depression, Anxiety, Leukocytosis, Thrombocytopenia ORPHA:83601
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... OMIM:612526
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Late-Onset Isolated Acth Deficiency
Hyperuricemia, Diarrhea, Weight loss, Low-grade fever, Normocytic anemia, Decreased circulating c... ORPHA:199299
Diarrhea 1, Secretory Chloride, Congenital
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochlore... OMIM:214700
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Malaria
Anemia, Gait imbalance, Hyperbilirubinemia, Respiratory distress, Fever, Elevated circulating C-r... ORPHA:673
Whipple Disease
Respiratory insufficiency, Anemia, Diarrhea, Cachexia, Insulin resistance, Ataxia, Cough, Fever, ... ORPHA:3452
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Failure to thrive, Hypocalcemia, Splenomegaly ORPHA:172
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Aortic Aneurysm, Familial Thoracic 4
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... OMIM:132900
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Decreased DLCO, Increased LDL cholesterol concentration, Dyspnea,... OMIM:607616
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
X-Linked Agammaglobulinemia
Anemia, Weight loss, Failure to thrive, Recurrent pneumonia, Recurrent cutaneous abscess formatio... ORPHA:47
Hereditary Coproporphyria
Respiratory insufficiency, Abnormal circulating porphyrin concentration, Anemia, Episodic vomitin... ORPHA:79273
Citrullinemia Type Ii
Hypertriglyceridemia, Vomiting, Hyperactivity, Diarrhea, Elevated hepatic transaminase, Acute hyp... ORPHA:247585
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Absent circulating B cells, Decreased circulating IgA level, Aga... OMIM:619707
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count, Chronic diarrhea OMIM:615592
Snakebite Envenomation
Neuromuscular dysphagia, Vomiting, Diarrhea, Respiratory paralysis, Pseudobulbar paralysis, Epist... ORPHA:449285
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Decreased body weight, Lymphocytosis, Hyperbilirubi... ORPHA:1667
Dengue Fever
Hypotension, Leukopenia, Diarrhea, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointesti... ORPHA:99828
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Diarrhea, B lymphocytopenia, Decreas... OMIM:612692
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife... ORPHA:331206
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly ORPHA:3180
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Diarrhea, Protracted diarrhea, Decreased circulating IgE... OMIM:615758
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Failure to thrive, Ventricular escape rhythm, Mitral re... OMIM:616201
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Short stature OMIM:616311
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Decreased ci... OMIM:615559
Immunodeficiency 70
Achalasia, Decreased circulating total IgM, Decreased proportion of CD4-positive helper T cells, ... OMIM:618969
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia, Paresthesia OMIM:615361
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Absent circulating B cells, Decrease... OMIM:613500
Mirage Syndrome
Gastroesophageal reflux, Leukopenia, Anemia, Achalasia, Aspiration pneumonia, Decreased body weig... OMIM:617053
Congenital Enterovirus Infection
Leukopenia, Anemia, Abnormal macrophage morphology, Hypothermia, Irritability, Respiratory distre... ORPHA:292
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Neutropenia, Decreased circulating I... OMIM:613502
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Hypoplasia of the thymus, Decreased proportion of CD4-positive help... OMIM:617241
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Hyperuricemia, Diarrhea, Weight loss, Hypothermia, Nonketotic hypoglycemia, A... ORPHA:20
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Rhabdoid Tumor
Respiratory insufficiency, Anemia, Weight loss, Fever, Hypercalcemia, Thrombocytopenia, Irritability ORPHA:69077
Shigellosis
Bloody diarrhea, Vomiting, Bloody mucoid diarrhea, Paralytic ileus, Microangiopathic hemolytic an... ORPHA:810
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD4-positive helper T cells, T lymphocytopenia, Decreased lymphocyte prol... ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Fever, Throm... OMIM:603552
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Asthma, Refractory anemia, Monocytosis OMIM:616871
Wiskott-Aldrich Syndrome
Decreased proportion of CD4-positive helper T cells, Diarrhea, Absent microvilli on the surface o... OMIM:301000
Alg8-Cdg
Anemia, Vomiting, Diarrhea, Small for gestational age, Ataxia, Failure to thrive, Hyponatremia, T... ORPHA:79325
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Clavicul... OMIM:615198
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Diarrhea, Decreased circulating antibody level, B lymphocytopeni... OMIM:614069
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Anemia, Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Elevated... OMIM:615895
Folate Malabsorption, Hereditary
Leukopenia, Diarrhea, Neutropenia, Irritability, Ataxia, Failure to thrive, Thrombocytopenia, Ath... OMIM:229050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperuricemia, Hyperlipidemia ORPHA:364
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Diarrhea, Decreased lymphocyte proliferation in response to mitogen, Hepatitis, Increased circula... ORPHA:169160
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Diarrhea, B lymphocytopenia, Neutropenia in presence of anti-neu... OMIM:607594
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Hyperkalemic Periodic Paralysis
Respiratory insufficiency, Paresthesia, Malignant hyperthermia, Hypokalemia, Hyperkalemia, Gait d... ORPHA:682
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis OMIM:184300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Increased circulating ferritin concentration, He... OMIM:613101
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Shor... OMIM:616005
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Decreased plasma free carnitine, Congestive heart failure, Failure to thrive, Br... OMIM:619048
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Abnormal T cell morphology, Short stature, Small for gestation... OMIM:215250
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Ataxia, Auto... ORPHA:760
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Growth delay, Hypercholesterolemia OMIM:306000
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Recurrent aphthous stomatitis, Vomiting, Diarrhea, Weight loss, Short stature,... OMIM:212750
Cholera
Vomiting, Aspiration pneumonia, Diarrhea, Hypokalemia, Irritability, Abnormal blood ion concentra... ORPHA:173
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to mi... ORPHA:276
Late-Onset Familial Hypoaldosteronism
Vomiting, Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin le... ORPHA:556037
Immunodeficiency 32B
Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Failure to thrive, Sinusitis, Fever, Eosinop... OMIM:226990
Ménétrier Disease
Gastroesophageal reflux, Vomiting, Diarrhea, Weight loss, Hypochromic microcytic anemia, Giant hy... ORPHA:2494
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Diarrhea, Neutropenia, Acute lym... ORPHA:486
Hepatocellular Carcinoma
Anemia, Diarrhea, Weight loss, Liver abscess, Type II diabetes mellitus, Hypokalemia, Hyperbiliru... ORPHA:88673
Hypoadrenocorticism, Familial
Vomiting, Hyperkalemia, Apnea, Hypoglycemia, Hyponatremia OMIM:240200
Colchicine Poisoning
Vomiting, Diarrhea, Hypophosphatemia, Hypokalemia, Respiratory distress, Abnormal blood ion conce... ORPHA:31824
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Monocytopenia, Lymphopenia, Abnormal neutrophil count, Fever, Mono... ORPHA:2688
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Flexion contracture, Vomiting, Diarrhea, Kyphosis, Abnormal subcutaneous fat tiss... OMIM:212065
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Anemia, Ulcerative colitis, Elevated circulating C-reactive protein concentratio... OMIM:619398
Posttransplant Acute Limbic Encephalitis
Ataxia, Depression, Anxiety, Hyponatremia, Dystonia ORPHA:163921
Riboflavin Deficiency
Hypothermia, Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia OMIM:615026
Neuronopathy, Distal Hereditary Motor, Type Viib
Abnormal lower motor neuron morphology OMIM:607641
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Loss of subcu... ORPHA:79083
Immunodeficiency 69
Anemia, Diarrhea, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferr... OMIM:618963
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Inability to walk, Choreoathetosis, Acute lymphoblas... OMIM:208900
Legionnaires Disease
Respiratory insufficiency, Diarrhea, Ataxia, Lymphopenia, Restrictive ventilatory defect, Cough, ... ORPHA:549
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anemia, Vomiting, Paresthesia, Diarrhea, Hypokalemia, Cachexia, Hematochezia, Xerostomia, Hypocal... OMIM:175500
Bartter Syndrome, Type 1, Antenatal
Increased serum prostaglandin E2, Hyperaldosteronism, Vomiting, Paresthesia, Diarrhea, Small for ... OMIM:601678
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Bradycardia, Sick sinus syndrome OMIM:617182
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Hyperaldosteronism, Vomiting, Paresthesia, Diarrhea, Small for ... OMIM:241200
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Schnitzler Syndrome
Anemia, Increased bone mineral density, Arthritis, Increased circulating IgM level, Leukocytosis,... ORPHA:37748
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia OMIM:613090
Melorheostosis With Osteopoikilosis
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis, Multiple lipomas ORPHA:1879
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Short stature, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Ricket... OMIM:616026
Xq28 (MECP2) duplication
Gait ataxia, Gastroesophageal reflux, Inability to walk, Failure to thrive, Constipation, Decreas... DECIPHER:45
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia OMIM:608320
Chédiak-Higashi Syndrome
Somatic sensory dysfunction, Inability to walk, Hepatosplenomegaly, Pleural effusion, Hyponatremi... ORPHA:167
Immunodeficiency 47
Elevated hepatic transaminase, Hypercholesterolemia, Chronic diarrhea, Thrombocytopenia, Splenome... OMIM:300972
Renal Hypoplasia, Bilateral
Anemia, Small for gestational age, Glycosuria, Hyperkalemia, Failure to thrive, Hyponatremia, Neo... ORPHA:97362
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Kyphosis, Ataxia, Decreased circulating IgA level, Scoliosis, Un... OMIM:300861
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Alstrom Syndrome
Hyperuricemia, Short stature, Hyperostosis frontalis interna, Hypertension, Dilated cardiomyopath... OMIM:203800
Aortic Aneurysm, Familial Thoracic 6
Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur... OMIM:611788
Acute Myelomonocytic Leukemia
Anemia, Weight loss, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Increased susceptibility to fractures, Reduced natural killer cell count, Decreased circulating t... OMIM:619752
Thrombocytopenia 3
Epistaxis, Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Maternal Uniparental Disomy Of Chromosome 4
Decreased LDL cholesterol concentration, Decreased body weight, Diarrhea, Spastic gait, Type I di... ORPHA:96180
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Ulc... OMIM:618394
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Recur... OMIM:203400
Fanconi-Bickel Syndrome
Osteomalacia, Reduced subcutaneous adipose tissue, Hypophosphatemia, Hypokalemia, Elevated circul... OMIM:227810
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyperaldosteronism, Vomiting, Diarrhea, Hyperkalemia, Failure to thrive, Hyponatremia OMIM:264350
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Vomiting, Diarrhea, Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopath... ORPHA:90038
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Wilson Disease
Decreased circulating ceruloplasmin concentration, Dysphagia, Chondrocalcinosis, Thrombocytopenia... OMIM:277900
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Vomiting, Diarrhea, Steatorrhea, Failure to thrive, Hypo... OMIM:246700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Hyperuricemia, Short stature, Gout, Elevated circulating creatinine concentration, Intrauterine g... OMIM:617056
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Decreased T cell activation, Diarrhea, Hemolytic anemia, Hepatitis, Dysgammaglobuli... OMIM:308230
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Glycogen Storage Disease Ia
Hyperuricemia, Short stature, Hypertension, Gout, Delayed puberty, Growth delay, Hyperlipidemia, ... OMIM:232200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... OMIM:155100
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Short stature, Increased bone mineral dens... OMIM:239000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia OMIM:300971
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Vomiting, Weight loss, Hyperkalemia, Incre... ORPHA:171876
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyperkalemia, Hyponatremia OMIM:143860
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Chronic diarrhea, Increased vertebral height, Short stature, Hepatitis, ... OMIM:613385
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Paresthesia, Anxiety, Dyspnea, Depression, Hypocalcemic s... ORPHA:36913
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Hypoglycemia ORPHA:163693
Thrombocytopenia 1
Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Increased circulating renin level, Failure to thrive, Increased circulating 18-hydr... OMIM:610600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Diarrhea, T lymphocytopenia, Short stature, Failure to thrive,... OMIM:242860
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity, Short stature DECIPHER:19
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... OMIM:314050
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperaldosteronism, Vomiting, Diarrhea, Hyperkalemia, Increased circulating renin level, Failure ... OMIM:177735
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor... OMIM:606367
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Respiratory insufficiency, Respiratory failure, Hyperglycinemia, Hypothermia, Hypertaurinemia, Fa... OMIM:245400
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Esophagitis, Decreased proportion of class-switc... OMIM:619652
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Episodic vomiting, Pancytopenia, Failur... OMIM:616050
Bartter Syndrome Type 4
Hyperaldosteronism, Vomiting, Small for gestational age, Hypokalemia, Increased circulating renin... ORPHA:89938
Spontaneous Periodic Hypothermia
Diarrhea, Hypothermia, Gait disturbance, Ataxia, Tremor, Abnormal pattern of respiration ORPHA:29822
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Primary Erythromelalgia
Abnormality of thrombocytes, Hypothermia, Leukemia ORPHA:90026
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly, Increased cir... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Intermediate Osteopetrosis
Hypocalcemia, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Diarrhea, Decreased circula... OMIM:616100
Hypophosphatasia
Respiratory insufficiency, Anemia, Emphysema, Hypercalcemia, Irritability, Failure to thrive in i... ORPHA:436
Acute Adrenal Insufficiency
Hyperuricemia, Diarrhea, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hy... ORPHA:95409
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Small for gestational age, Failure to thrive, Hypertrophic cardiomyopathy, Hyper... OMIM:614702
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Scoliosis, Joint stiffness, Connective tissue nevi OMIM:166700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... OMIM:611590
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia OMIM:614736
Early-Onset Familial Hypoaldosteronism
Vomiting, Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin le... ORPHA:556030
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Sterile abscess, Osteomyelitis, Spinal canal stenosis, Cutaneous abscess, Joint hypermobility, De... OMIM:618282
Porphyria Variegata
Abnormal circulating porphyrin concentration, Anemia, Somatic sensory dysfunction, Respiratory pa... ORPHA:79473
Omenn Syndrome
Anemia, Hypoplasia of the thymus, Diarrhea, B lymphocytopenia, Failure to thrive, Severe B lympho... OMIM:603554
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Splenomegaly, Atrophic gastritis, Decreased circulating total IgM, B lymphoc... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Diarrhea, B lymphocytopenia, Decreased circulating IgG2 level, A... OMIM:102700
Immunodeficiency, Common Variable, 2
Diarrhea, Impaired T cell function, Decreased circulating IgA level, Partial absence of specific ... OMIM:240500
Glycogen Storage Disease Ixb
Hyperuricemia, Growth delay, Short stature OMIM:261750
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Irregular vertebral endplates, Schmorl's node, Platyspondyly OMIM:604864
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Neutropenia, Choreoathetosis, Respiratory distress, Failure to thrive, Hyperammonemia, Th... ORPHA:79312
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Short stature, Failure to thrive, Delayed puberty, Decre... OMIM:616834
Ataxia-Pancytopenia Syndrome
Impaired vibration sensation in the lower limbs, Acute myelomonocytic leukemia, Anemia, Ataxia, P... OMIM:159550
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase, Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Complete or near-complete absence of specific antibody response to tetan... OMIM:615401
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Intrauterine growth retardation, Dysphagia OMIM:616276
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia, Constipation, Prol... ORPHA:95717
Systemic Lupus Erythematosus 17
Chorea, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Fever, Anxiety, Thrombocytopenia, R... OMIM:301080
Infection-Related Hemolytic Uremic Syndrome
Bloody diarrhea, Vomiting, Brain abscess, Pleural empyema, Diarrhea, Hemolytic anemia, Hyperkalem... ORPHA:544482
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Beta-Thalassemia
Respiratory insufficiency, Abnormality of temperature regulation, Anemia, Abnormality of iron hom... ORPHA:848
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Juvenile rheumatoid arthritis, Failure to thrive, Decreased circul... ORPHA:275
Multiple Myeloma
Hyperproteinemia, Anemia, Weight loss, Decreased circulating antibody level, Osteopenia, Increase... ORPHA:29073
Transcobalamin Ii Deficiency
Vomiting, Decreased circulating total IgM, Diarrhea, Neutropenia, Reticulocytopenia, Ataxia, Eryt... OMIM:275350
Burkitt Lymphoma
Hyperuricemia, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased proportion of CD4-p... ORPHA:543
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Defective T cell proliferation, Decrea... OMIM:618534
Beta-Ketothiolase Deficiency
Hypotension, Oral aversion, Hyperuricemia, Weight loss, Hypertension, Agitation, Hyperammonemia ORPHA:134
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia, Diarrhea OMIM:226200
Selective Igm Deficiency
Crohn's disease, Decreased circulating total IgM, Rheumatoid arthritis, Cellulitis, Decreased pro... ORPHA:331235
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Anemia, Neutropenia, Choreoathetosis, Respiratory distress, Hyperammonemia, Thrombocytope... ORPHA:289916
Dopamine Beta-Hydroxylase Deficiency
Anemia, Rhinitis, Vomiting, Diarrhea, Hyperinsulinemia, Hypothermia, Insulin resistance, Increase... ORPHA:230
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Gastroesophageal reflux, Hyperlordosis, Abnormal T cell subset distribution, Reduced natural kill... ORPHA:221139
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Lipodystrophy, Increased circulati... OMIM:618048
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Cln3 Disease
Shuffling gait, T-wave inversion, Ataxia, Loss of ambulation, Dysphagia, Bradycardia, Vacuolated ... ORPHA:228346
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Small for gestational age, Hypoproteinemia, Growth delay, Hyperlipidemia... OMIM:256300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Hypothermia, Elevated circulating creatine kinase concentration, Throm... OMIM:618775
Glycogen Storage Disease Ib
Hyperuricemia, Short stature, Hypertension, Gout, Delayed puberty, Hyperlipidemia, Xanthelasma, O... OMIM:232220
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia, Hypoglycemia, Apneic episodes in infancy OMIM:610006
Slc35A1-Cdg
Neutropenia, Hypoxemia, Respiratory distress, Abnormal platelet granules, Giant platelets, Thromb... ORPHA:238459
Osteopetrosis, Autosomal Recessive 5
Anemia, Undetectable visual evoked potentials, Hyperbilirubinemia, Pancytopenia, Hepatosplenomega... OMIM:259720
Thrombotic Thrombocytopenic Purpura
Diarrhea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Dyspnea... ORPHA:54057
Hypobetalipoproteinemia, Familial, 1
Decreased LDL cholesterol concentration, Ataxia, Steatorrhea, Decreased HDL cholesterol concentra... OMIM:615558
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Anemia, Vomiting, Diarrhea, Weight loss, Hypersplenism, Cachexia... ORPHA:275761
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Sitosterolemia 1
Reduced haptoglobin level, Hypercholesterolemia, Stomatocytosis, Anemia, Giant platelets, Reticul... OMIM:210250
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Hypothermia, Hyperalaninemia, Dystonia OMIM:614654
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia... OMIM:602522
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Cachexia, Abnormal blood ion concentration, Gastritis, Colitis, Pneum... ORPHA:37042
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Neutrophilia, Lipodystrophy, Increased circulating IgA level, Increased circulating IgM... OMIM:617099
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Fulminant hepatitis, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Secondary Intestinal Lymphangiectasia
Vomiting, Decreased prealbumin level, Decreased circulating total IgM, Decreased circulating anti... ORPHA:90363
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity, Anemia OMIM:238700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Bronchiectasis, Decreased circulating cortisol level, Hyperkalemia, Recurrent sinusitis, Autoimmu... ORPHA:293978
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Diarrhea, Neutropenia, Absent circulat... OMIM:613501
Chylomicron Retention Disease
Vomiting, Diarrhea, Steatorrhea, Failure to thrive, Impaired proprioception, Hypocholesterolemia,... ORPHA:71
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Hemivertebrae, Short neck OMIM:608681
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cellulitis, C... OMIM:618944
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Loss of ambulation, Tremor, Thrombocytopenia, Irritability, Dystonia, Splenomegaly OMIM:615010
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Carnitine-Acylcarnitine Translocase Deficiency
Respiratory insufficiency, Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentra... ORPHA:159
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Cerebral artery atherosclerosis, Arterial stenosis ORPHA:1192
Meningococcal Meningitis
Paresthesia, Hypothermia, Projectile vomiting, Irritability, Fever, Elevated circulating C-reacti... ORPHA:33475
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Mu-Heavy Chain Disease
Anemia, Splenomegaly, Weight loss, Abnormal B cell count, Osteolysis, Osteoporosis ORPHA:100024
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Diffuse Alveolar Hemorrhage
Anemia, Weight loss, Hypoxemia, Airway obstruction, Restrictive ventilatory defect, Dyspnea, Coug... ORPHA:90060
Acute Intermittent Porphyria
Respiratory insufficiency, Somatic sensory dysfunction, Diarrhea, Respiratory paralysis, Anxiety,... ORPHA:79276
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Addison Disease
Hyperuricemia, Diarrhea, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hy... ORPHA:85138
Bacterial Toxic-Shock Syndrome
Vomiting, Diarrhea, Peritonitis, Increased circulating metamyelocyte count, Respiratory distress,... ORPHA:36234
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Facet joint arthrosis, Diffi... ORPHA:566943
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Intracranial hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Hyperlipidemia, J... ORPHA:35909
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Bernard-Soulier Syndrome
Epistaxis, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Macrothrombocytopenia,... OMIM:231200
Propionic Acidemia
Anemia, Vomiting, Hyperglycinemia, Neutropenia, Pancytopenia, Apnea, Failure to thrive, Hypoglyce... OMIM:606054
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures,... ORPHA:199296
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Hypovolemia, Angina pecto... ORPHA:90041
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Morbid Obesity And Spermatogenic Failure
Obesity, Congestive heart failure, Hypertension, Myocardial infarction, Increased LDL cholesterol... OMIM:615703
Juvenile Nephropathic Cystinosis
Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Vomiting, Hypovolemia, Hypopho... ORPHA:411634
Hereditary Xanthinuria
Sulfite oxidase deficiency, Rheumatoid arthritis, Reduced xanthine dehydrogenase level, Hyperxant... ORPHA:3467
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Keloids, Increased bone mineral density, Sclerosis ... ORPHA:166119
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Extramedullary hematopoiesis, Failure to thrive, Chronic diarrhea, Thrombocyt... OMIM:615285
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Vomiting, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Alg12-Cdg
Abnormal circulating IgG level, Gastroesophageal reflux, Abnormal bone ossification, Complete or ... ORPHA:79324
Myofibrillar Myopathy 11
Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu... OMIM:619178
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hypocalcemia, Splenomegaly OMIM:259700
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Ataxia, Kyphoscoliosi... OMIM:136300
Ataxia-Telangiectasia
Mucosal telangiectasiae, Short stature, Decreased circulating antibody level, Gait disturbance, E... ORPHA:100
Sepsis In Premature Infants
Hypotension, Splenomegaly, Vomiting, Decreased body weight, Increased circulating interleukin 6 c... ORPHA:90051
Distal 16P11.2 Microdeletion Syndrome
Obesity, Attention deficit hyperactivity disorder, Hyperuricemia ORPHA:261222
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, T lymphocytopenia, Gastritis, Colitis, Hypernatremia, Splenomegaly, Osteomyelitis, Decr... OMIM:619381
Immunodeficiency 19
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... OMIM:615617
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Failure to thrive, Inflammation of the large in... OMIM:615767
Immunodeficiency 27A
Anemia, Diarrhea, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Histiocytosis, F... OMIM:209950
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Leukopenia, Anemia, Choreoathetosis, Ataxia, Hyperammonemia, Macrocyti... ORPHA:27
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Giant platelets, Congenital thrombocytopenia, Neutrophil inclus... ORPHA:182050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... ORPHA:158057
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Pancytopenia, Thromboc... ORPHA:507
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Vomiting, Irritability, Failure to thrive, Constipation, Unexplained fevers, Hypernatremia, Polyd... OMIM:125800
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Diarrhea, Jaundice, Elevated hepatic transaminase, Steatorrhea, Intrahepatic cho... OMIM:607765
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Vomiting, Irritability, Failure to thrive, Constipation, Unexplained fevers, Hypernatremia, Polyd... OMIM:304800
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Polyphagia, Neonatal hypoglycemia OMIM:606407
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Increased susceptibility to fractures, Hyperuricemia, Short stature, Hypert... ORPHA:79259
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Familial Hypoaldosteronism
Diarrhea, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia, Letha... ORPHA:427
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Increased adipose tissue, Obesity, Hypertension, Polyphagia, Hyp... ORPHA:71529
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Diarrhea, T lymphocytopenia, B lymphocytopenia, Arthritis, Failure to t... OMIM:601457
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Vomiting, Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Fe... ORPHA:90790
Japanese Encephalitis
Vomiting, Diarrhea, Respiratory paralysis, Irregular respiration, Choreoathetosis, Neutrophilia, ... ORPHA:79139
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Vomiting, Hypothermia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, ... OMIM:251880
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin ORPHA:3319
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Retinal telangiectasia, Decreased circulating IgG level OMIM:267900
Familial Glucocorticoid Deficiency
Vomiting, Diarrhea, Weight loss, Ketotic hypoglycemia, Decreased circulating cortisol level, Hype... ORPHA:361
Johanson-Blizzard Syndrome
Anemia, Short stature, Failure to thrive, Hypoproteinemia, Exocrine pancreatic insufficiency, Int... ORPHA:2315
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... OMIM:617514
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis ORPHA:820
Marburg Hemorrhagic Fever
Bloody diarrhea, Diarrhea, Hypothermia, Reticulocytosis, Elevated circulating creatine kinase con... ORPHA:99826
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Neutropenia, Methylmal... ORPHA:79282
Relapsing Fever
Increased total bilirubin, Leukopenia, Anemia, Vomiting, Diarrhea, Neutrophilia, Epistaxis, Cough... ORPHA:91547
Gaucher Disease Type 1
Pulmonary arterial hypertension, Leukopenia, Anemia, Kyphosis, Increased circulating antibody lev... ORPHA:77259
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Lesch-Nyhan Syndrome
Gout, Hyperuricemia ORPHA:510
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, C... OMIM:601859
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Pulmonary arterial hypertension, Elevated hepatic transaminase, Hyperp... OMIM:616299
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy OMIM:618815
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Cellulitis, Ulcerative colitis, Decreased proport... OMIM:614878
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Elevated circulating creatine kinase ... OMIM:212138
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Tricuspid regurgitation, Decreased circulating total IgM, Neutropenia, B lymphoc... OMIM:619705
Schimke Immunoosseous Dysplasia
Short neck, Ovoid vertebral bodies, Thrombocytopenia, Disproportionate short-trunk short stature,... OMIM:242900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Vomiting, Hyperglycinemia, Neutropenia, Methylmalonic acidemia, Respiratory distress,... OMIM:251000
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona... ORPHA:95716
Immunodeficiency 50
Neutropenia, Lymphopenia, Decreased circulating antibody level OMIM:300988
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess ORPHA:89937
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Potocki-Lupski Syndrome
Hyperactivity, Short stature, Small for gestational age, Failure to thrive, Hypocholesterolemia, ... OMIM:610883
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Isolated Agammaglobulinemia
Anemia, Diarrhea, Abnormality of neutrophils, Failure to thrive, Recurrent cutaneous abscess form... ORPHA:229717
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Exaggerated startle response, Blepharospasm, Intermittent hypothermia, D... OMIM:608643
12q14 microdeletion syndrome
Proportionate short stature, Osteopoikilosis DECIPHER:76
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Abnormality of the vertebral column, Ectopic ossification OMIM:602475
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Decreased circulating IgA level, Thrombocytopenia, Umbilic... OMIM:616638
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Severe platyspondyly, Inability to walk, T lymphocytopenia, Elbow flexion contracture, Decreased ... ORPHA:508533
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Lethal Ataxia With Deafness And Optic Atrophy
Abnormal erythrocyte enzyme level, Ataxia, Hypouricemia ORPHA:1187
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Spastic Ataxia-Corneal Dystrophy Syndrome
Gait disturbance, Spastic ataxia, Ataxia, Decreased circulating antibody level ORPHA:2572
Holocarboxylase Synthetase Deficiency
Weight loss, Irritability, Respiratory distress, Ataxia, Hyperammonemia, Thrombocytopenia, Lethar... ORPHA:79242
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Thrombocytopenia, Unexplained fevers, Elevated circulating creatine kinase con... OMIM:614727
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Aggressive behavior, Self-injurious behavior, Hyperglycemia, Anxiety, Asthma, Hy... ORPHA:293987
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Growth delay, Atrioventricular block, Joint contracture of the 5th finger, Bra... OMIM:614407
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Thickened cortex of bones, Difficulty walking, Joint stiffness ORPHA:564003
Timothy Syndrome
Hypocalcemia, Pneumonia, Hypoglycemia OMIM:601005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, B lymphocytopenia, Abnormally low T cell receptor excision circl... OMIM:618987
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Weight loss, Abnorma... ORPHA:330001
Laterality Defects, Autosomal Dominant
Heterotaxy, Situs inversus totalis OMIM:601086
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Dystonia, Anemia OMIM:619302
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Cog4-Cdg
Intermittent diarrhea, Ataxia, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Irrita... ORPHA:263501
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Failure to thrive, Giant plate... OMIM:169400
Abetalipoproteinemia
Reticulocytosis, Steppage gait, Chronic diarrhea, Impaired distal proprioception, Hypocholesterol... ORPHA:14
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Molybdenum Cofactor Deficiency, Complementation Group C
Sulfite oxidase deficiency, Hypertaurinemia, Molybdenum cofactor deficiency, Hypocystinemia, Hypo... OMIM:615501
Analbuminemia
Hypotension, Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholest... OMIM:616000
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Panhypogammaglobulinemia, Short stature, Epiphyseal stippling, Ataxia, P... ORPHA:251009
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Osteomesopyknosis
Increased bone mineral density, Low back pain OMIM:166450
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Vomiting, Apnea, Failure to thrive, Fever, Hypercalcemia, ... OMIM:241500
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Immunodeficiency By Defective Expression Of Mhc Class Ii
Gait ataxia, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferatio... ORPHA:572
Babesiosis
Respiratory insufficiency, Leukopenia, Hemolytic anemia, Cough, Fever, Depression, Thrombocytopen... ORPHA:108
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Dyspnea, Macrocytic anemia, Thrombocytopeni... ORPHA:98826
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary arterial hypertension, Anemia, Absence of subcutaneous fat, Decreased circulating total... OMIM:620005
Dyskeratosis Congenita, Digenic
Gastroesophageal reflux, Anemia, Decreased circulating total IgM, Short stature, Failure to thriv... OMIM:620040
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Reticulocytosis, Gastritis, Bone marrow hypocellularity, Eosino... ORPHA:3261
Tetanus
Stiff neck, Hypertension, Elevated circulating creatine kinase concentration, Dysphagia, Bradycar... ORPHA:3299
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Stomatitis, Pancytopenia, Autoimmune thrombocytopenia, Pleural effusion, Auto... OMIM:613011
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Irritability, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Riddle Syndrome
Telangiectasia, Decreased circulating total IgM, Weight loss, Diarrhea, Short stature, Arthritis,... ORPHA:420741
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Pearson Syndrome
Anemia, Hyperalaninemia, Chronic diarrhea, Small for gestational age, Glycosuria, Hypophosphatemi... ORPHA:699
Pituitary Apoplexy
Increased circulating cortisol level, Hypoglycemia, Fever, Hyponatremia, Normochromic anemia ORPHA:95613
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Constipation, Absent ossification of capital femoral epiphysis, Prolon... ORPHA:226313
Hemophagocytic Syndrome Associated With An Infection
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hypertriglycerid... ORPHA:158048
Infant Botulism