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Gene: Dll1 MGI:104659

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Gene Summary

Name:
delta like canonical Notch ligand 1
Synonyms:
Delta1

Order Alleles

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

Download data as:  TSV  XLS

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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
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology ORPHA:280195
Semilobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:220386
Alobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:93926
Lobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:93924
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Holoprosencephaly 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
Cervical Vertebral Dysplasia
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... OMIM:118005
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis OMIM:616566
Caspase 8 Deficiency
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD... OMIM:607271
Central Diabetes Insipidus
Depression, Polydipsia, Fever, Failure to thrive, Diarrhea, Hyponatremia, Lethargy, Weight loss, ... ORPHA:178029
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Short stature, Osteopo... ORPHA:2801
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin... OMIM:617514
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hypertension, Hyperos... ORPHA:77296
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Primary Basilar Invagination
Abnormal vertebral morphology, Abnormality of the cervical spine, Short neck ORPHA:2285
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Cereb... OMIM:613179
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Osteopenia, Failure to thri... ORPHA:98813
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Diarrhea, Difficulty walking, Abnormal ... ORPHA:100924
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin conc... OMIM:267700
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased... OMIM:613327
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat... ORPHA:90362
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, T lymphocyto... OMIM:300400
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Recurrent fever, Increased total bilirubin, Increased ... OMIM:603553
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Vomiting, Reduced natura... OMIM:619510
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Fever, Leukocytosis, Hyponatremia, Thrombocytopenia ORPHA:83601
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Failure to thr... OMIM:617718
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Necrotizing Enterocolitis
Temperature instability, Diarrhea, Vomiting, Bloody diarrhea, Hyperglycemia, Leukocytosis, Abnorm... ORPHA:391673
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Reduced subcutaneous adipose tissue, Hyperuricemia, Loss... OMIM:604367
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Intrauterine growth retardation, Decrease... OMIM:617744
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Dysplasia Of Head Of Femur, Meyer Type
Antalgic gait, Leukocytosis, Fever, Waddling gait ORPHA:168621
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Fever, Hypocalcemia ORPHA:100025
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Vomi... ORPHA:26793
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas... OMIM:613845
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Diarrhea, Failure to thrive, Hypoglycemia, Macrocyti... ORPHA:199299
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level, Hypoproteinemia ORPHA:1116
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Recurrent fever, Failure to thrive, Hepatosplenomegaly, Persisten... OMIM:619644
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Immunodeficiency 44
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... OMIM:616636
Immunodeficiency 48
Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lympho... OMIM:269840
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Herpes Simplex Virus Encephalitis
Fever, Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-re... ORPHA:1930
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Pulmonary embolism, Vomiting, Budd-Chiari syndrome, Intestinal obstruc... OMIM:226300
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Lipodystrophy, Hy... ORPHA:86816
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Intention tremor OMIM:610539
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Abnormality of thrombocytes, Hypocalcemia, Failure to thrive ORPHA:172
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... OMIM:614470
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertr... OMIM:612526
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochlorem... OMIM:214700
Citrullinemia Type Ii
Hypoalbuminemia, Diarrhea, Vomiting, Decreased body mass index, Elevated circulating hepatic tran... ORPHA:247585
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Decreased circulating IgA l... OMIM:619281
Immunodeficiency 15B
Reduced natural killer cell count, Chronic diarrhea, Failure to thrive, Monocytosis OMIM:615592
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Increased circulating IgE level, Reduced delayed hypersensitivity, ... OMIM:617241
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Wolcott-Rallison Syndrome
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Fever, Difficulty walking, Exocrin... ORPHA:1667
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Leukopenia, Lethargy, Thrombocytop... ORPHA:99828
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Diarrhea, Xerostomia, Vomiting, Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokale... OMIM:175500
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Vertebral segmentation defect ORPHA:2956
Intellectual Developmental Disorder, Autosomal Dominant 33
Short stature, Hyperactivity, Decreased body weight OMIM:616311
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, Abnormal T cell morph... OMIM:612692
Shigellosis
Vomiting, Fever, Microangiopathic hemolytic anemia, Hypoglycemia, Failure to thrive in infancy, A... ORPHA:810
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Diarr... ORPHA:169160
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Neuroleptic Malignant Syndrome
Vomiting, Hyperphosphatemia, Fever, Oculogyric crisis, Hypomagnesemia, Chorea, Leukocytosis, Hypo... ORPHA:94093
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia OMIM:615361
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Weight... ORPHA:2494
Immunodeficiency 22
Decreased circulating IgG level, Decreased circulating IgE, Diarrhea, Failure to thrive, Protract... OMIM:615758
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Impaired T cell function, Decre... OMIM:607594
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Peripheral arterial stenosis, Retinal arteriolar constriction OMIM:124950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... ORPHA:169154
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
X-Linked Agammaglobulinemia
Fever, Failure to thrive, Hypocalcemia, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Chron... ORPHA:47
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Achalasia, ... OMIM:618969
Fanconi-Bickel Syndrome
Hypouricemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Rickets, Failur... OMIM:227810
Whipple Disease
Insulin resistance, Ataxia, Gastrointestinal hemorrhage, Depression, Polydipsia, Fever, Diarrhea,... ORPHA:3452
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Impaired T cell function, Decre... OMIM:240500
Alg8-Cdg
Diarrhea, Vomiting, Failure to thrive, Hyponatremia, Thrombocytopenia, Ataxia, Anemia, Small for ... ORPHA:79325
Osteosclerotic Metaphyseal Dysplasia
Failure to thrive, Sclerotic vertebral endplates, Elevated circulating alkaline phosphatase conce... OMIM:615198
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperlipidemia, Hyperuricemia ORPHA:364
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Elevated circulating h... OMIM:615895
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Recurrent fever, Increased circulating ferritin concentration, Fever, Splenomeg... OMIM:603552
Mirage Syndrome
Gastroesophageal reflux, Hypoglycemia, Lymphopenia, Leukopenia, Chronic diarrhea, Decreased body ... OMIM:617053
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocytopenia, De... OMIM:614069
Folate Malabsorption, Hereditary
Ataxia, Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Irritabi... OMIM:229050
Spondylosis, Cervical
Spina bifida occulta, Spondylolysis, Spondylolisthesis, Cervical spondylosis OMIM:184300
Malaria
Fever, Hyperbilirubinemia, Gait imbalance, Anemia, Thrombocytopenia, Elevated circulating C-react... ORPHA:673
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Congestive heart failure, Intrauterine growth retardation, Decreased plasma fr... OMIM:619048
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Failure to thrive, Elevated circulating hepatic transaminase concentration, R... OMIM:212750
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Vomiting, Pseudobulbar paralysis, Hyponatremia, Thrombocytopenia ORPHA:449285
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia OMIM:617182
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Abnormal T cell morphology, Autoimmune hemolytic anemia, Hyperactivity... ORPHA:760
Xq28 (MECP2) duplication
Gastroesophageal reflux, Failure to thrive, Inability to walk, Decreased circulating IgA level, G... DECIPHER:45
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Generalized bone demineralization, Abnormal T cell morphology, S... OMIM:215250
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Diarrhea, Fever, Recurrent hypoglycemia, Anorexia, Leukopenia, Leukocytosis, Hyperammonem... ORPHA:20
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ... OMIM:208900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Late-Onset Familial Hypoaldosteronism
Vomiting, Fever, Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circu... ORPHA:556037
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Decreased circulating IgG level, Osteopenia, Diarrhea, Vomiting, Failure to thri... OMIM:212065
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Inflammation of the large intestine, Diarrhea, Decreased proporti... OMIM:301000
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Fever, Hypomagnesemia, Hyperaldos... OMIM:241200
Glycogen Storage Disease Ixa1
Growth delay, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Generalized Pustular Psoriasis
Hypoalbuminemia, Fever, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated ... ORPHA:247353
Congenital Enterovirus Infection
Hypoalbuminemia, Fever, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology,... ORPHA:292
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia, Hypoglycemia OMIM:615026
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Loss of facial adipose tissue, Hyperuricem... ORPHA:79083
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Fever, Increased circulating ferritin concentration, Failure to thriv... OMIM:618963
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Hypertension, Multiple lipomas ORPHA:1879
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Lethargy, Anorexia, Decrease... OMIM:611590
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increa... ORPHA:37748
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Fever, Small for gestational age, Hypomagnese... OMIM:601678
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Elevated circulating hepatic transaminase concentration, Rickets, Large for gestati... OMIM:616026
Adult Idiopathic Neutropenia
Fever, Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia ORPHA:2688
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia OMIM:613090
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Difficulty walking, Lymphopenia, Recurrent ap... OMIM:612782
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Ataxia, Decreased circulating t... OMIM:300861
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Acute colitis, Elevated circulating creati... ORPHA:90038
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Fever, Increased circulating ferritin concentration, Recurrent fever, Hepatospl... OMIM:613101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Intrauterine growth retardation, Gout, Hyperuricem... OMIM:617056
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Lumbar hyperlordosis, Increased... OMIM:613385
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Type I diabetes mellitus, Depression, Diarrhea, Hypocholesterolemia... ORPHA:96180
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Elevated circulating al... OMIM:300972
Rhabdoid Tumor
Fever, Irritability, Weight loss, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Legionnaires Disease
Diarrhea, Fever, Anorexia, Lymphopenia, Splenomegaly, Hyponatremia, Ataxia ORPHA:549
N-Acetylglutamate Synthase Deficiency
Vomiting, Failure to thrive, Hyperammonemia, Hypothermia, Hyperglutamatemia, Aggressive behavior,... OMIM:237310
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis OMIM:616871
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Increased bone mineral density, Ankylosis, Hype... OMIM:239000
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Failure to thrive, Recurrent fever, Hyponatremia, Hyperkalemia, Increased circulating r... OMIM:203400
Myopathy, Tubular Aggregate, 2
Falls, Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Glycogen Storage Disease Ia
Growth delay, Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Delayed puberty, Short stature, O... OMIM:232200
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Aplastic anemia, Fever, Lymphopenia, Recurrent aphthous stomatitis, Eosinophilia, Acute... ORPHA:486
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Diarrhea, Impaired memory B cell generation, Failure to thrive, ... OMIM:308230
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ... ORPHA:66529
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Depression, Ataxia ORPHA:163921
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia OMIM:264350
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex I Deficiency, Nuclear Type 13
Decreased circulating carnitine concentration, Failure to thrive, Hypertrophic cardiomyopathy, Br... OMIM:618235
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Hypoglycemia ORPHA:163693
Acute Adrenal Insufficiency
Normocytic anemia, Diarrhea, Failure to thrive, Hypoglycemia, Hyperuricemia, Hyponatremia, Salt c... ORPHA:95409
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Hyperkalemic Periodic Paralysis
Malignant hyperthermia, Paresthesia, Elevated circulating creatine kinase concentration, Hypokale... ORPHA:682
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Vomiting, Diarrhea, Failure to thrive, Decreased circulating IgA... OMIM:275350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating IgA level, ... OMIM:242860
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Glycogen Storage Disease V
Failure to elevate ammonia on ischemic exercise, Hyperuricemia, Elevated circulating creatine kin... OMIM:232600
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia, Lethargy, Constipation, Delayed proximal femoral e... ORPHA:95717
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Immunodeficiency 32B
Hypoalbuminemia, Fever, Failure to thrive, Impaired oxidative burst, Splenomegaly, Eosinophilia, ... OMIM:226990
Cholera
Diarrhea, Vomiting, Fever, Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatremia, L... ORPHA:173
Bartter Syndrome Type 4
Small for gestational age, Vomiting, Failure to thrive, Hypomagnesemia, Hyperaldosteronism, Emoti... ORPHA:89938
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Hypoproteinemia, Somatic... ORPHA:167
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Hyperammonemia, ... OMIM:614702
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysac... OMIM:606367
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Anorexia, Splenomegaly, Hyperammonemia, Lethargy, Thrombocytopenia, Neutropeni... ORPHA:79312
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Colchicine Poisoning
Diarrhea, Vomiting, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Nausea... ORPHA:31824
Chylomicron Retention Disease
Hypoalbuminemia, Impaired vibratory sensation, Hypotriglyceridemia, Vomiting, Failure to thrive, ... OMIM:246700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Reduced delayed hypersensitivity, Autoimmune hemolytic a... OMIM:603909
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Secretory diarrhea, Fever, Recurrent fever, I... OMIM:616050
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Dysphagia, Mildly elevated creatine kinase, Bradycardia OMIM:620265
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Failure... OMIM:614700
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased ... OMIM:177735
Primary Erythromelalgia
Leukemia, Abnormality of thrombocytes, Hypothermia ORPHA:90026
Beta-Ketothiolase Deficiency
Hypotension, Hyperammonemia, Oral aversion, Hyperuricemia, Weight loss, Anorexia, Hypertension, A... ORPHA:134
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Connective tissue nevi, Flexion contracture, Scoliosis OMIM:166700
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Vasculitis, Decreased circulating IgG level, Abnormal T cell count, Aplastic ane... OMIM:308240
Renal Hypoplasia, Bilateral
Glycosuria, Failure to thrive, Hyponatremia, Lethargy, Anemia, Hyperkalemia, Small for gestationa... ORPHA:97362
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia OMIM:614736
Sepsis In Premature Infants
Temperature instability, Diarrhea, Vomiting, Fever, Leukocytosis, Splenomegaly, Hypothermia, Decr... ORPHA:90051
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Glycogen Storage Disease Ixb
Short stature, Growth delay, Hyperuricemia OMIM:261750
Omenn Syndrome
Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thromb... OMIM:603554
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Lymphopenia, Decreased circulating... OMIM:616100
Early-Onset Familial Hypoaldosteronism
Vomiting, Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating ... ORPHA:556030
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Cutaneous abscess, Increased circulating IgE level, Osteomyelitis, Decreased circulating IgA leve... OMIM:618282
Multiple Myeloma
Osteopenia, Pathologic fracture, Tall stature, Elevated circulating creatinine concentration, Spl... ORPHA:29073
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Lymphopenia, Complete or near-complete absence of specific antibody resp... OMIM:615401
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Impaired vibration sensation in the lower li... OMIM:159550
Hypoadrenocorticism, Familial
Hyponatremia, Vomiting, Hyperkalemia, Hypoglycemia OMIM:240200
Burkitt Lymphoma
Gastrointestinal hemorrhage, Increased circulating lactate dehydrogenase concentration, Abnormali... ORPHA:543
Familial Glucocorticoid Deficiency
Diarrhea, Vomiting, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Ketoti... ORPHA:361
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Dysphagia, Bradycardia OMIM:616276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Severe B lymphocytopenia, Diarrhea, Failure to thrive, Increased circulating IgE l... OMIM:102700
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Irritability, Impulsivity, Lethargy, Hyp... OMIM:620423
Pseudohypoparathyroidism Type 2
Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia, Hypocalcem... ORPHA:94090
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail... OMIM:615767
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG ... OMIM:620376
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, H... OMIM:602522
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Enterokinase Deficiency
Diarrhea, Hypoproteinemia, Failure to thrive OMIM:226200
Wilson Disease
Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Elevated circulating alani... OMIM:277900
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Postnatal growth re... OMIM:620632
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Addison Disease
Normocytic anemia, Type I diabetes mellitus, Diarrhea, Failure to thrive, Hypoglycemia, Hyperuric... ORPHA:85138
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Small for gestational age, Hyperlipidemia, Growth delay... OMIM:256300
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Failure to thrive, Abnormal natural killer cell mo... OMIM:615617
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Potocki-Lupski Syndrome
Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hyperactivity, Short stature, ... OMIM:610883
Gaisböck Syndrome
Elevated diastolic blood pressure, Obesity, Increased circulating renin level, Gout, Hyperuricemi... ORPHA:90041
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Gastroesophageal reflux, D... ORPHA:221139
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Osteomalacia, Weight loss, Anorexia, Elevated circulat... OMIM:619381
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Failure to thrive, Recurrent aphthous stomatitis, Decreased circ... ORPHA:275
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa... OMIM:618048
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Atrioventricular block,... OMIM:212138
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:608106
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Reduc... OMIM:210250
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Vomiting, Right ventricular failure, Decreased circulating ... ORPHA:90363
Glycogen Storage Disease Ib
Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Delayed puberty, Short stature, Osteoporosis, H... OMIM:232220
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Leishmaniasis
Hypoalbuminemia, Recurrent fever, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splen... ORPHA:507
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Increased proport... OMIM:617099
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnorma... OMIM:613501
Distal 16P11.2 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Obesity, Hyperuricemia ORPHA:261222
Hypotonia-Cystinuria Syndrome
Polyphagia, Neonatal hypoglycemia, Hypocalcemia, Failure to thrive OMIM:606407
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Gastrointestinal hemorrhage, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... ORPHA:35909
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Mueller-Weiss Syndrome
Sclerosis of foot bone, Difficulty walking, Joint stiffness, Limitation of movement at ankles, Kn... ORPHA:566943
Hypobetalipoproteinemia, Familial, 1
Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased L... OMIM:615558
Hereditary Xanthinuria
Hypouricemia, Rheumatoid arthritis, Sulfite oxidase deficiency, Aldehyde oxidase deficiency, Gout... ORPHA:3467
Meningococcal Meningitis
Fever, Paresthesia, Hypothermia, Irritability, Lethargy, Anorexia, Elevated circulating C-reactiv... ORPHA:33475
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Generalized Pseudohypoaldosteronism Type 1
Vomiting, Failure to thrive in infancy, Increased circulating renin level, Hyponatremia, Weight l... ORPHA:171876
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Weight loss, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Alg12-Cdg
Hypoalbuminemia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration... ORPHA:79324
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neut... OMIM:615285
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis ORPHA:1192
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve... ORPHA:99826
Flynn-Aird Syndrome
Joint stiffness, Increased bone density with cystic changes, Kyphoscoliosis, Ataxia, Osteoporosis... OMIM:136300
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... OMIM:607765
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spontaneous Periodic Hypothermia
Diarrhea, Hypothermia, Tremor, Gait disturbance, Ataxia ORPHA:29822
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the odontoid process, Increased circulating IgE level, Decreased proportion of CD8-... ORPHA:508533
Juvenile Nephropathic Cystinosis
Hypouricemia, Vomiting, Polydipsia, Failure to thrive, Elevated circulating creatinine concentrat... ORPHA:411634
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Type I diabetes mellitus, Vomiting, Secretory diarrhea, Hypomagnesemia, Failure ... ORPHA:37042
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Autoimmune Hypoparathyroidism
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia... ORPHA:36913
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Cellulitis, Decreased circulating IgG level, Increased circulating interleukin 6 concentration, C... OMIM:618944
Lysosomal Acid Lipase Deficiency
Diarrhea, Vomiting, Failure to thrive, Hepatosplenomegaly, Hypersplenism, Bone-marrow foam cells,... ORPHA:275761
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus ORPHA:79094
Aicardi-Goutieres Syndrome 2
Dystonia, Lymphocytosis OMIM:610181
Aicardi-Goutieres Syndrome 6
Splenomegaly, Tremor, Irritability, Loss of ambulation, Thrombocytopenia, Dystonia, Hemolytic anemia OMIM:615010
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Brain abscess, Fever, Vomiting, Secretory diarrhea, Acute colitis, Leukocytosis, Hypoca... ORPHA:544482
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Failure to thrive, Difficulty walking, Leukocytosis, Hypocalcemia, Splenomega... ORPHA:289157
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Cardiomyopathy, Abnormal circulating creatine kinase concentr... OMIM:232500
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Ataxia-Telangiectasia
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Telangie... ORPHA:100
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Osteopenia, Failure to thrive, Xanthelasma, Hyperlipidemia, Pulmonary venous hypertens... ORPHA:79259
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Lesch-Nyhan Syndrome
Gout, Hyperuricemia ORPHA:510
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hypoglycemia, Hyperglycinemia, Hypothermia, Hypertaurinemia OMIM:245400
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Unexplained fevers, Vomiting, Polydipsia, Failure to thrive, Irritability, Constipation, Hypernat... OMIM:125800
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter... ORPHA:330001
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Vomiting, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Immunodeficiency 27A
Hypoalbuminemia, Diarrhea, Fever, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weigh... OMIM:209950
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Unexplained fevers, Vomiting, Polydipsia, Failure to thrive, Irritability, Constipation, Hypernat... OMIM:304800
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Irritability, Abnormality of temperature re... ORPHA:848
Immunodeficiency 114, Folate-Responsive
Recurrent fever, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megalob... OMIM:620603
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Osteopetrosis, Autosomal Recessive 1
Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Porphyria Variegata
Somatic sensory dysfunction, Ileus, Abnormal circulating porphyrin concentration, Hyponatremia, C... ORPHA:79473
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenome... OMIM:259720
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Johanson-Blizzard Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Intrauterine growth retardation, Anemia, Sh... ORPHA:2315
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Chorea, Hyperammonemia, Lethargy, Thrombocytopenia, Neutropenia, Anemia, Dystonia, Choreoathetosis ORPHA:289916
Congenital Disorder Of Glycosylation, Type Ij
Elevated circulating hepatic transaminase concentration, Aggressive behavior, Jaundice, Flexion c... OMIM:608093
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp... OMIM:612783
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Familial Hypoaldosteronism
Diarrhea, Failure to thrive, Recurrent fever, Hyponatremia, Lethargy, Hyperkalemia, Increased cir... ORPHA:427
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Vomiting, Failure to thrive, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Hyp... OMIM:251880
Systemic Lupus Erythematosus 17
Fever, Recurrent fever, Lymphopenia, Leukopenia, Chorea, Thrombocytopenia, Autoimmune thrombocyto... OMIM:301080
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Recurrent hypoglycemia, Abnormal lymphocyte morphology, Hyponatremia, Decrease... ORPHA:293978
Hypophosphatasia
Anemia, Failure to thrive in infancy, Hypercalcemia, Irritability ORPHA:436
Chylomicron Retention Disease
Vomiting, Diarrhea, Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea, Impaired... ORPHA:71
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Decreased circulating IgA level, Enterocolitis, Decreased proportion of class-switche... OMIM:614878
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Diarrhea, Vomiting, Hypoglycemia, Elevated circulating creatinine concentrati... ORPHA:230
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated... OMIM:601859
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglo... OMIM:601457
Sneddon Syndrome
Arterial stenosis, Intracranial hemorrhage ORPHA:820
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Short neck, Disproportionate short-trun... OMIM:242900
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Stereotypical body rocking, Recurrent hand flapping, Agitation, ... OMIM:309548
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Small for gest... OMIM:618775
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Postnatal growth retardation, Lymphopenia, Leukopenia, Joint sti... OMIM:620210
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Fever, Increased circulating ferritin concen... ORPHA:158057
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Japanese Encephalitis
Neutrophilia, Diarrhea, Vomiting, Fever, Pill-rolling tremor, Tremor, Hyponatremia, Opisthotonus,... ORPHA:79139
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgi... OMIM:619705
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column OMIM:602475
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemic seizures, Neonatal hypoglycemia ORPHA:199296
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Congenital Disorder Of Glycosylation, Type Iik
Unexplained fevers, Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase con... OMIM:614727
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Fraxe Intellectual Disability
Intrauterine growth retardation, Stereotypical body rocking, Recurrent hand flapping, Agitation, ... ORPHA:100973
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Obesity, Aggressive behavior, Hyper... OMIM:620270
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Abnormal erythrocyte enzyme concentration or activity, Ataxia ORPHA:1187
Molybdenum Cofactor Deficiency, Type C
Hypouricemia, Sulfite oxidase deficiency, Hypocystinemia, Molybdenum cofactor deficiency, Hyperta... OMIM:615501
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level, Spastic ataxia, Gait disturbance, Ataxia ORPHA:2572
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Paresthesia, Lethargy, Megaloblastic anemia, Thrombocytopenia, Anorexia, Diabetes mellitus ORPHA:49827
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia, Hypoglycemia OMIM:610006
Thrombotic Thrombocytopenic Purpura
Diarrhea, Fever, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased ... ORPHA:54057
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Grow... OMIM:614407
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... ORPHA:436159
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Difficulty walking, Joint stiffness, Thickened cortex of bones, Arthritis ORPHA:564003
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Decreased HDL cholesterol concentration, Obesit... OMIM:203800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Cog4-Cdg
Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Hypercholesterolemia, Thrombocyto... ORPHA:263501
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin concentration, ... ORPHA:95716
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Hypothermia OMIM:614654
Pontocerebellar Hypoplasia, Type 15
Anemia, Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced plate... OMIM:231200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia, Epiphyseal st... ORPHA:251009
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Pelger-Huet Anomaly
Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut... OMIM:169400
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Selective Igm Deficiency
Cellulitis, Decreased proportion of transitional B cells, Rheumatoid arthritis, Cutaneous abscess... ORPHA:331235
Smith-Kingsmore Syndrome
Rhizomelia, Umbilical hernia, Large for gestational age, Decreased circulating IgA level, Thrombo... OMIM:616638
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Pseudohypoparathyroidism Type 1B
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Paresthesia, Hypocalcemia... ORPHA:94089
Pearson Syndrome
Ataxia, Glycosuria, Hypomagnesemia, Steatorrhea, Exocrine pancreatic insufficiency, Pancytopenia,... ORPHA:699
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Elevated circulating... OMIM:620005
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Diarrhea, Vomiting, Fever, Elevated circulating creatinine concentration, Hypoca... ORPHA:36234
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:159
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Diarrhea, Decreased lymphocyte proliferation in response to mito... ORPHA:572
Smith-Magenis syndrome
Short stature, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Rhizomelia, Failure to thrive, Decreased circulating IgA level, ... OMIM:607143
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Elevated circulating creat... OMIM:620366
Propionic Acidemia
Vomiting, Failure to thrive, Hypoglycemia, Pancytopenia, Hyperglycinemia, Hyperammonemia, Letharg... OMIM:606054
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Abetalipoproteinemia
Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Ataxia, Osteopenia, Hypotriglyceridemia, Re... ORPHA:14
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level OMIM:620125
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Inter... ORPHA:93284
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Short stature, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, R... ORPHA:210110
Pandas
Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp... ORPHA:66624
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Irritability OMIM:146200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen... ORPHA:35078
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Parap... ORPHA:439232
Hypophosphatasia, Infantile
Vomiting, Fever, Failure to thrive, Elevated plasma pyrophosphate, Irritability, Constipation, An... OMIM:241500
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive, Intrauterine growth ... OMIM:620040
Cystinosis
Type I diabetes mellitus, Vomiting, Polydipsia, Fever, Failure to thrive, Hypokalemia, Hypophosph... ORPHA:213
Bloom Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Intrauterine growth retardation, Decrea... ORPHA:125
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Timothy Syndrome
Hypothermia, Hypocalcemia, Hypoglycemia OMIM:601005
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Lethargy, Thrombocytopenia, Ataxia, Anemia, Choreo... ORPHA:27
Riddle Syndrome
Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, Conjunctival telangie... ORPHA:420741
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Spl... OMIM:615513
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Vomiting, Fever, Hypoglycemia, Failure to thrive, Hyponatremia, Decreased circulating cortisol le... ORPHA:90790
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Polyphagia, Increased bone mineral density OMIM:618406
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Paralytic il... OMIM:620565
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Temperature instability, Diarrhea, Gastroesophageal reflux, Oculogyric crisis, Int... OMIM:608643
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circ... OMIM:300635
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Diarrhea, Increased LDL cholesterol concentration, Hype... ORPHA:247598
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circ... ORPHA:158048
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Pituitary Apoplexy
Fever, Hypoglycemia, Increased circulating cortisol level, Hyponatremia, Normochromic anemia ORPHA:95613
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Broad-based gait, Increased HbA2 hemoglobin, Decreased mean corpuscular... OMIM:616943
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia OMIM:603592
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hypoglycemia,... ORPHA:79282
Glycogen Storage Disease Vii
Increased circulating lactate dehydrogenase concentration, Increased total bilirubin, Reduced ery... OMIM:232800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies, Sacral dimple ORPHA:2064
Holocarboxylase Synthetase Deficiency
Ataxia, Hyperammonemia, Irritability, Lethargy, Weight loss, Thrombocytopenia, Anorexia ORPHA:79242
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokalemia, Increased circulating ... OMIM:601198
Glucose-Galactose Malabsorption
Vomiting, Diarrhea, Failure to thrive, Fever, Osmotic diarrhea, Weight loss, Hypercalcemia, Hyper... ORPHA:35710
Tetanus
Stiff neck, Elevated circulating creatine kinase concentration, Dysphagia, Bradycardia, Tachycard... ORPHA:3299
Lujo Hemorrhagic Fever
Hypotension, Diarrhea, Vomiting, Increased circulating lactate dehydrogenase concentration, Eleva... ORPHA:319213
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu... ORPHA:90674
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decre... OMIM:300539
Lymphoproliferative Syndrome 1
Hemophagocytosis, Recurrent fever, Increased circulating ferritin concentration, Pancytopenia, Le... OMIM:613011
Glutamine Deficiency, Congenital
Hyperammonemia, Hypoglutaminemia, Bradycardia, Camptodactyly, Flexion contracture OMIM:610015
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Vomiting, Increased circulating lactate dehydrogenase concentration, Hypersegmentation of neutrop... OMIM:617780
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Diarrhea, Failure to thrive, Lack of T cell function, Increased ... ORPHA:277
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Pontocerebellar Hypoplasia, Type 14
Dystonia, Chronic neutropenia, Thrombocytopenia OMIM:619301
Relapsing Fever
Diarrhea, Vomiting, Fever, Increased total bilirubin, Elevated circulating creatinine concentrati... ORPHA:91547
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Steator... OMIM:266510
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Hypertension OMIM:174000
Pyruvate Carboxylase Deficiency
Neonatal hyperbilirubinemia, Hyperglycemia, Ataxia, Anorexia, Tip-toe gait, Dystonia, Elevated pl... ORPHA:3008
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Gastroesophageal reflux, Inability to walk, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia... OMIM:617913
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Partial absence of specific antibody response to t... OMIM:618108
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Hypothermia OMIM:618557
Primary Myelofibrosis
Fever, Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sp... ORPHA:824
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Septic arthritis, Decreased circulating IgA level, T lymphocytop... OMIM:300755
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio... ORPHA:911
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Panhypophysitis
Polydipsia, Hyponatremia, Decreased circulating cortisol level, Nausea, Normochromic anemia ORPHA:95513
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Molybdenum Cofactor Deficiency, Type A
Hypouricemia, Sulfite oxidase deficiency, Aldehyde oxidase deficiency, Reduced xanthine dehydroge... OMIM:252150
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Sclerosteosis
Tall stature, Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone minera... ORPHA:3152
Isolated Agammaglobulinemia
Diarrhea, Fever, Failure to thrive, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abn... ORPHA:229717
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagitis, Decreased prop... ORPHA:443811
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Umbilical hernia, Large for gestational age, Constipation, Brady... ORPHA:226313
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Rasmussen Subacute Encephalitis
Inability to walk, Attention deficit hyperactivity disorder, Hyperactivity, Decreased circulating... ORPHA:1929
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Elevated circulating ... OMIM:122860
Liver Disease, Severe Congenital
Diarrhea, Hyperbilirubinemia, Jaundice, Hypoproteinemia, Systolic heart murmur, Intrahepatic chol... OMIM:619991
Hereditary Coproporphyria
Hyponatremia, Nausea, Abnormal circulating porphyrin concentration, Episodic vomiting ORPHA:79273
Xanthinuria, Type I
Hypouricemia, Reduced xanthine dehydrogenase level, Reduced circulating xanthine oxidase activity... OMIM:278300
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Cystathioninemia, Vomiting, Failure to thrive, Decreased methylmalonyl-CoA mutase ac... OMIM:277400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Leukopenia, Hyperglycinemia, Hyperammonemia,... OMIM:251000
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Restrictive cardiomyopathy, Gastroesophageal reflux, Obesity, Decreased circulating I... ORPHA:369837
Melorheostosis
Atypical scarring of skin, Failure to thrive, Joint stiffness, Ectopic ossification in muscle tis... ORPHA:2485
Babesiosis
Depression, Fever, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hemolytic anemia ORPHA:108
Aica-Ribosiduria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Monosomy 18Q
Aortic valve stenosis, Failure to thrive, Congestive heart failure, Slender build, Decreased circ... ORPHA:1600
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Glycine Encephalopathy 1
Hyperglycinemia, Irritability, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impuls... OMIM:605899
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Vomiting, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Weight loss, Hyp... ORPHA:90794
Infant Botulism
Xerostomia, Hyponatremia, Constipation, Anorexia, Dysphagia, Bowel incontinence ORPHA:178478
Acute Intermittent Porphyria
Depression, Diarrhea, Fever, Somatic sensory dysfunction, Pseudobulbar paralysis, Ileus, Tremor, ... ORPHA:79276
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Analbuminemia
Hypoalbuminemia, Hypotension, Elevated circulating transferrin concentration, Increased LDL chole... OMIM:616000
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Mildly elevated creatine kinase, Hip contracture, Thoracic scoliosis, Co... OMIM:620351
Immunodeficiency 25
Protracted diarrhea, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Recurrent fever, Lymphopenia, Chorea, Thrombocytopenia, Colitis, Hemolytic anemia OMIM:616744
Crimean-Congo Hemorrhagic Fever
Diarrhea, Pancytopenia, Neutrophilia, Anorexia, Tachycardia, Jaundice, Diffuse alveolar hemorrhag... ORPHA:99827
Sheehan Syndrome
Hypoglycemia, Obesity, Hyponatremia, Decreased circulating cortisol level, Constipation, Nausea, ... ORPHA:91355
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Immunodeficiency 17
Abnormal B cell morphology, Failure to thrive, Chronic decreased circulating IgG2, Decreased prop... OMIM:615607
Roifman Syndrome
Biconvex vertebral bodies, Postnatal growth retardation, Intrauterine growth retardation, Hepatos... ORPHA:353298
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Difficulty walking, Hypocalcemia, Irritability, Hypophosphatemia, Hypocalcemic... OMIM:264700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Gout, Hyperuricemia OMIM:162000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Splenomegaly, Hypocalcemia, Inguinal hernia, Short neck, Hypoproteinemia OMIM:235255
Methylmalonic Aciduria, Cblb Type
Vomiting, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine concentration,... OMIM:251110
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Aicardi-Goutieres Syndrome 3
Dystonia, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Stroke, Cerebral hemorrhage, Lacun... ORPHA:136
Glycogen Storage Disease Vi
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... OMIM:232700
Reticular Dysgenesis
Diarrhea, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality of neutrophils, Decreas... ORPHA:33355
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Decreased circulating cortisol level, Anemia, Reduced circulating cortisol-binding g... OMIM:611489
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... OMIM:612301
Coronary Artery Disease, Autosomal Dominant, 1
Premature coronary artery atherosclerosis OMIM:608320
Ring Chromosome 10 Syndrome
Cachexia, Hypocalcemia ORPHA:1438
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Chronic diarrhea, Intermittent thrombocytopenia OMIM:616740
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Tremor, Hyperactivity, Ataxia, Dystonia OMIM:615924
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Postnatal growth retardation, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, In... ORPHA:1655
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Increased susceptibility to fractures, Hyperuricemia, Hyperten... ORPHA:2769
Squalene Synthase Deficiency
Elbow flexion contracture, Hypocholesterolemia, Intrauterine growth retardation, Failure to thriv... OMIM:618156
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Joint stiffness, Telangiectasia, Anemia, Increased ci... OMIM:615934
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Short neck, Lipodystrophy,... OMIM:608776
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Vomiting, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Ne... ORPHA:90791
Sneddon Syndrome
Lymphopenia, Atrophic scars, Ischemic stroke, Cerebral hemorrhage, Decreased circulating total Ig... OMIM:182410
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Glycogen Storage Disease Ic
Spider hemangioma, Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Pulmonary arterial hypertens... OMIM:232240
East Syndrome
Polydipsia, Hypomagnesemia, Difficulty walking, Inability to walk, Hyperaldosteronism, Action tre... ORPHA:199343
Yellow Fever
Diarrhea, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concentration, Neutro... ORPHA:99829
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Nausea, Normochromic anemia ORPHA:95512
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Decreased circulating IgG level, Leukemi... OMIM:210900
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... OMIM:248250
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Gitelman Syndrome
Insulin resistance, Hypermagnesemia, Type I diabetes mellitus, Diarrhea, Polydipsia, Failure to t... ORPHA:358
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Fever, Difficulty walking, Hypocalcemia, Hyperkalemia, Highly elevated creatin... ORPHA:99845
Dubowitz Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Postnatal growth retar... OMIM:223370
D-Glyceric Aciduria
Gastroesophageal reflux, Failure to thrive, Reduced hepatic D-glycerate kinase activity, Tongue t... OMIM:220120
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Gastroesophageal reflux, Failure to thrive, Elevated circulating propionylcarnitine concentration... OMIM:614857
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Fever, Hemolytic anemia, Hypernatremia ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Fever, Hemolytic anemia, Hypernatremia ORPHA:529808
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Failure to thrive, Umbilical hernia, Decreased circulating IgA l... OMIM:617062
Hyperprolinemia, Type I
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy OMIM:239500
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Gaucher Disease, Type Iii
Depression, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Ataxia OMIM:231000
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Obesity, Tremor... ORPHA:3077
Hereditary Renal Hypouricemia
Hypouricemia, Vomiting, Increased blood urea nitrogen, Nausea, Back pain ORPHA:94088
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Difficulty walking, Hypophosphatemia, Hypocalcemia, Failure to thrive OMIM:600081
Amed Syndrome, Digenic
Failure to thrive, Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, ... OMIM:619151
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Gaucher Disease
Pancytopenia, Increased circulating antibody level, Polyclonal elevation of IgM, Ataxia, Elevated... ORPHA:355
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Elbow flexion contracture, Palpitations, Knee flexion cont... OMIM:310300
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... ORPHA:2585
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasi... OMIM:612541
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Hyperphosphatemia, Diarrhea, Recurrent hypoglycemia, Increase... ORPHA:94086
Lesch-Nyhan Syndrome
Self-injurious behavior, Podagra, Hyperuricemia, Short stature, Dysphagia OMIM:300322
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Failure to thrive, Thrombocytopenia ORPHA:67048
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins OMIM:126320
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Cardiac arrest, Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia OMIM:246450
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Vomiting, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotensi... ORPHA:85443
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Short stature, Neutropenia, Decreased circulating total IgM OMIM:610798
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Sp... OMIM:617388
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Increased LDL cholesterol concentrat... ORPHA:470
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Fever, Leukocytosis, Anemia of inadequate production, Abnormal ... ORPHA:86839
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Oculoskeletodental Syndrome
Splenomegaly, Small for gestational age, Hypercalcemia, Hypocalcemia OMIM:618440
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Fever, Constipation, Anorexia, Hypernatremia ORPHA:223
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Depression, Polydipsia, Fever, Impaired pain sensation, Hyperglycemia, O... ORPHA:293987
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, An... OMIM:611490
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive OMIM:602361
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Failure to thrive OMIM:300200
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Takayasu Arteritis
Vasculitis, Arterial stenosis, Vascular dilatation, Ascending tubular aorta aneurysm ORPHA:3287
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation, Short neck, Elevated circulating C-r... OMIM:619750
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Increased bone mineral density, Umbilical hernia, Reduc... OMIM:614856
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Fever, Increased circulating ferritin concentration, Splenomeg... ORPHA:158061
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Diffuse Alveolar Hemorrhage
Fever, Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Thrombocytopenia... ORPHA:90060
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Diarrhea, Vomiting, Leukocytosis, Eosinophilia, Anemia, Weight los... ORPHA:2070
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Cholesteryl Ester Storage Disease
Diarrhea, Vomiting, Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegal... OMIM:278000
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Decreased liver function, Decreased prop... OMIM:301045
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Gait disturbance, Hyperactivity, Decreased circulating IgA level ORPHA:457485
Majeed Syndrome
Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractur... ORPHA:77297
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Molybdenum Cofactor Deficiency, Type B
Hypouricemia, Molybdenum cofactor deficiency, Growth delay OMIM:252160
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... ORPHA:79329
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Fever, Leukocytosis, Lymphocytosis, Weight loss, An... ORPHA:514
Diastrophic Dysplasia
Neonatal short-limb short stature, Hypoplastic cervical vertebrae, Abnormal form of the vertebral... ORPHA:628
Congenital Disorder Of Glycosylation, Type Iib
Elevated circulating aspartate aminotransferase concentration, Reduced tissue mannosyl-oligosacch... OMIM:606056
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Poems Syndrome
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerotic vertebral endplates, Scle... ORPHA:2905
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism,... ORPHA:98850
Ethylene Glycol Poisoning
Vomiting, Hypocalcemia, Hypothermia, Addictive alcohol use, Euphoria, Gastritis, Ataxia, Nausea, ... ORPHA:31826
Alexander Disease
Self-injurious behavior, Depression, Failure to thrive, Chorea, Emotional lability, Hypothermia, ... ORPHA:58
Activated Pi3K-Delta Syndrome
Failure to thrive, Decreased circulating antibody level, Splenomegaly, Arthritis, B lymphocytopen... ORPHA:397596
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Secretory diarrhea, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hy... OMIM:618183
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Osteomalacia, Hypophosphatemic ricke... ORPHA:3337
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Polydipsia, Glycosuria, Failure to thrive, Hypomag... OMIM:219800
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Chronic constipation, Attention deficit hyperacti... OMIM:620211
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Obesity, Hyperphosphatemia, Hypocalcemia OMIM:612462
Muscular Dystrophy, Becker Type
Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:300376
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Combined Oxidative Phosphorylation Defect Type 39
Vomiting, Tip-toe gait, Intrauterine growth retardation, Abnormal circulating enzyme concentratio... ORPHA:565624
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Temperature instability, Gait ataxia, Hypothermia, Dysmetria, Action ... ORPHA:99027
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Diarrhea, Recurrent fever, Recurrent aphthous stomatitis, Splenomegaly, A... OMIM:150550
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Familial Dysautonomia
Malignant hyperthermia, Gastroesophageal reflux, Impaired pain sensation, Hyponatremia, Gait dist... ORPHA:1764
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Inguinal hernia, Pulmonary arterial hypertension, Bradycardia, Growth delay OMIM:619272
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia, Anemia, Small for gestational age OMIM:127000
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Reduced bone mineral densi... ORPHA:79443
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Camurati-Engelmann Disease
Bone marrow hypocellularity, Slender build, Sclerosis of skull base, Diaphyseal sclerosis, Reduce... OMIM:131300
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hemolytic anemia, Hand tremor OMIM:609153
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level, Conjunctiva... ORPHA:1951
Immunodeficiency 61
Obesity, Decreased circulating IgG2 level, Attention deficit hyperactivity disorder, Decreased ci... OMIM:300310
Werner Syndrome
Chondrocalcinosis, Congestive heart failure, Increased bone mineral density, Slender build, Joint... ORPHA:902
Hypercalcemia, Infantile, 1
Vomiting, Failure to thrive, Lethargy, Weight loss, Hypercalcemia OMIM:143880
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Fever, Leukocytosis, Splenomegaly, Abnormal basophil morphology,... ORPHA:521
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Juvenile Arthritis
Quotidian fever, Periodic fever, Leukocytosis, Thrombocytosis OMIM:618795
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Mitochondrial Trifunctional Protein Deficiency
Tip-toe gait, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Lethargy ORPHA:746
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Ham... OMIM:310200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive, Splenomegaly, Hypophosphatemia, Constipation, Calcinosis, Anemia, ... OMIM:239200
Exercise-Induced Malignant Hyperthermia
Malignant hyperthermia, Vomiting, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine ... ORPHA:466650
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Depression, Gastroesophageal reflux, Failure to thrive, Hyperaldosteroni... ORPHA:534
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Arterial Calcification, Generalized, Of Infancy, 1
Arterial stenosis, Carotid artery calcification, Renal artery stenosis, Generalized arterial calc... OMIM:208000
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia, Congestive heart failure OMIM:260450
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Acute Promyelocytic Leukemia
Fever, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Addictive alcohol use, Weight loss, Neut... ORPHA:520
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Umbilical hernia, Lethargy, Constipation, Delayed proximal femoral e... ORPHA:90673
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hereditary Sensory And Autonomic Neuropathy Type 4
Pain insensitivity, Unexplained fevers, Hyperesthesia, Somatic sensory dysfunction, Recurrent fev... ORPHA:642
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Dysmetria, Tremor, Aggressive behavior, Thrombocytopenia, Ataxia, Severe temper tan... OMIM:617710
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... OMIM:602433
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv... OMIM:616749
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Difficulty walking, Inappropriate laughter, Hypocalcemia, Ataxia OMIM:618476
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... ORPHA:97214
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Ciliary Dyskinesia, Primary, 44
Heterotaxy OMIM:618781
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Proximal Spinal Muscular Atrophy
Gastroesophageal reflux, Difficulty walking, Inability to walk, Gastroparesis, Elbow flexion cont... ORPHA:70
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Juvenile Huntington Disease
Broad-based gait, Depression, Chorea, Gait ataxia, Irritability, Dystonia, Weight loss, Hyperacti... ORPHA:248111
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Griscelli Syndrome
Fever, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Atax... ORPHA:381
Mevalonic Aciduria
Progressive cerebellar ataxia, Diarrhea, Vomiting, Fluctuating splenomegaly, Failure to thrive, F... OMIM:610377
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Gait disturbance, Bradycardia, Dysphagia OMIM:609286
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Viral hepatitis... ORPHA:91139
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Progressive gait ataxia, Dysphagia, Scoliosis, Progressive cerebellar ataxia ORPHA:1177
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Chronic con... ORPHA:79330
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Methylmalonic Aciduria, Cbla Type
Vomiting, Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Tremor, Lethargy, Neu... OMIM:251100
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus OMIM:598500
Specific Granule Deficiency 2
Intractable diarrhea, Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia, N... OMIM:617475
Schwartz-Jampel Syndrome
Hip contracture, Decreased body weight, Arrhythmia, Short neck, Cachexia, Spinal rigidity, Inguin... ORPHA:800
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Leukopenia, Anemia, Thrombocytopenia, Short stature, Dec... OMIM:618116
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Colitis, Impaired lymphocyte transformation with phytohemagglutinin, Dec... OMIM:617006
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia OMIM:618314
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Pseudohypoparathyroidism Type 1C
Depression, Hyperphosphatemia, Laryngeal dystonia, Hypocalcemic tetany, Obesity, Paresthesia, Hyp... ORPHA:79444
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Vomiting, Failure to thrive, Anorexia, Sideroblastic anemia, Pancytopen... OMIM:557000
Dysbetalipoproteinemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, T... ORPHA:412
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Encephalitis Lethargica
Stiff neck, Increased circulating antibody level, Lethargy, Bradycardia, Bowel incontinence ORPHA:83600
Osteopetrosis, Autosomal Dominant 2
Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Enamel hy... ORPHA:2643
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Fever, Leukocytosis, Splenomegaly, Weight loss, Thrombocytopenia, Abnormal neutro... ORPHA:3226
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, Ileus, Chro... OMIM:304790
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... OMIM:615468
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Abnormal B cell morphology, Intrauterine growth retardation, Decreased circul... OMIM:616910
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Agitation, Polyphagia, Sync... ORPHA:276556
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Bradycardia OMIM:610768
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Diarrhea,... ORPHA:79124
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fever, Lymphopenia, Leukopenia, Lethargy, Thromb... ORPHA:319218
Nathalie Syndrome
Growth delay, Abnormal EKG OMIM:255990
Liddle Syndrome
Hypokalemia, Constipation ORPHA:526
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Complete or nea... OMIM:301081
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... OMIM:615751
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Fever, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration... OMIM:235400
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis ORPHA:79087
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Increased serum bile acid concentration, Hypokalemia, Weig... OMIM:619377
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Failure to thrive, Chorea, Gait ataxia, Hypothermia, Low plasma citrulline, Hyperalaninemi... ORPHA:255210
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Microcytic anemia, Chronic constipation, Incre... OMIM:256040
Congenital Toxoplasmosis
Anemia, Failure to thrive in infancy, Diarrhea, Thrombocytopenia ORPHA:858
Rabin-Pappas Syndrome
Hyponatremia, Failure to thrive in infancy, Obesity OMIM:620155
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Vomiting, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancyto... ORPHA:35858
Hyperuricemia, Hprt-Related
Podagra, Hyperuricemia OMIM:300323
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death OMIM:611890
Pycnodysostosis
Coronal craniosynostosis, Rhizomelia, Spondylolysis, Disproportionate short-limb short stature, I... ORPHA:763
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Ataxia, Elevated circulating C-reactive protein co... OMIM:615688
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Gastr... ORPHA:84064
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Atelis Syndrome 1
Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocytopenia OMIM:620184
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Inability to walk, Obesity, Hypothermia, Constipation, Abnormality of temperature regulati... OMIM:618493
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Failure to thrive, Hypoglycemia, Hypothermia, Hyperalaninemia OMIM:618329
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Phosphoribosylpyrophosphate Synthetase Superactivity
Short stature, Gout, Small for gestational age, Hyperuricemia OMIM:300661
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc... OMIM:249270
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Obesity, Polyphagia, Episodic hemolytic anemia, Increased blood urea nitrogen... ORPHA:251004
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Increased circulating antibody... ORPHA:77261
Gitelman Syndrome
Vomiting, Polydipsia, Failure to thrive, Recurrent fever, Hypomagnesemia, Paresthesia, Hypokalemi... OMIM:263800
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Holoprosencephaly
Gastroesophageal reflux, Hypoglycemia, Failure to thrive in infancy, Abnormality of the spleen, C... ORPHA:2162
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotension due to auto... ORPHA:66628
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Gastroesophageal reflux, Vomiting, Failure to thrive, Hypoglycemia, Hypothermia, Dystonia, Aggres... ORPHA:17
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Gout, Hyperuricemia ORPHA:79233
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Osteolysis ORPHA:158014
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Secretory diarrhea, Necrotizing enterocolitis, Recurrent fever, Lymphopenia, ... OMIM:619573
Primary Biliary Cholangitis
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatitis, Abnormal c... ORPHA:186
Neuroblastoma
Fever, Increased circulating ferritin concentration, Antalgic gait, Irritability, Weight loss, Th... ORPHA:635
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Lambert Syndrome
Failure to thrive in infancy, Intrauterine growth retardation, Inguinal hernia, Jaundice, Decreas... ORPHA:1296
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Hyperammonemia, Irritability, Loss of ambulation, Craniofacial dystonia, Neutropeni... OMIM:618253
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Failure to thrive, Brain abscess,... ORPHA:2929
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Difficulty walking, Chorea, Leukocytosis, Splenomegaly, Tremo... OMIM:615673
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... ORPHA:563
Pseudo-Torch Syndrome 3
Recurrent fever, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocy... OMIM:618886
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Bradycardia, Lethargy, Thrombocytopenia,... OMIM:617397
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Vomiting, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Nausea... OMIM:241150
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Irritability, Hypokalemia, Increased bo... ORPHA:1501
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vomiting, Diarrhea, Increased circulating ferritin concentration, Head titubation, Thrombocytopen... ORPHA:3240
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Facial telangiectasia, Inguinal hernia, Impulsivity, Attention deficit ... OMIM:620141
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin... ORPHA:79096
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Palpitations, Agitation, Polyphagia, Syncop... ORPHA:324575
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Orthostatic hypotension due to auto... ORPHA:179494
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis OMIM:610947
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Vomiting, Hyperkalemia, Abnormal circulating cholesterol concentration, Failure to thrive, Hypona... ORPHA:168558
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricemia ORPHA:411536
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Delayed patellar ossification, Short neck, Abnormal bone ossificati... ORPHA:163649
Aregenerative Anemia
Depression, Fever, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Emotional l... ORPHA:101096
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Syncope, Weight loss, Bradycardia, Jaw claudication ORPHA:221098
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Gait disturbance, Ataxia, Decreased circulating antibody level, Scoliosis, Kyphosis ORPHA:85317
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Vomiting, Failure to thrive OMIM:602722
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Large for gestational age, Palpitations, Agitation, Polyphagia, Sync... ORPHA:276575
Trichothiodystrophy
Osteopenia, Increased mean corpuscular hemoglobin concentration, Cardiomyopathy, Panhypogammaglob... ORPHA:33364
Orthostatic Hypotension 1
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen, Elevated circulating dih... OMIM:223360
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy... OMIM:277380
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Vomiting, Hyperkalemia, Abnormal circulating cholesterol concentration, Failure to thrive, Hypona... ORPHA:289548
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Familial Hyperaldosteronism Type I
Hypokalemia, Nausea, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism ORPHA:403
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Gastroesophageal reflux, Vomiting, Failure to thrive, Hypoglycemia, Slender buil... OMIM:613658
Hereditary Folate Malabsorption
Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic a... ORPHA:90045
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Hypokalemia, Anemia OMIM:174900
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency 37
Colitis, Decreased circulating antibody level, Decreased proportion of central memory CD4-positiv... OMIM:616098
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Failure to thrive, Cerebral vasculitis, Cutaneous abscess, Inc... OMIM:243700
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Recurr... ORPHA:231226
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... OMIM:241520
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis, Hyperuricemia ORPHA:411543
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Gastroesophageal reflux, Vomiting, Failure to thrive, Hypokalemia, Hyponatremia, Ataxia OMIM:618426
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Increased circulating i... ORPHA:540
Drug-Induced Lupus Erythematosus
Fever, Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen,... ORPHA:231111
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Growth delay, Intrauterine growth retardation, Corneal scarring, Bradycardia, Retinal hemorrhage,... OMIM:614653
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Hyperlysinemia, Type I
Hypoornithinemia, Hyperlysinemia, Hyperactivity, Anemia, Dysdiadochokinesis OMIM:238700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Diarrhea, Fever, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, ... ORPHA:98849
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypocalcemia, Tremor, Hypophosphatemia, Abnormality of temperature regulation, Anem... ORPHA:667
Stuve-Wiedemann Syndrome 2
Dysphagia, Thrombocytopenia OMIM:619751
Cryptogenic Organizing Pneumonia
Neutrophilia, Fever, Leukocytosis, Weight loss, Anorexia, Elevated circulating C-reactive protein... ORPHA:1302
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Gastroesophageal reflux, Failure to thrive, Inability to walk, Chronic constipation, Thrombocytop... OMIM:616577
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:93160
Autosomal Agammaglobulinemia
Cellulitis, Diarrhea, Hepatitis, Failure to thrive, Osteomyelitis, Agammaglobulinemia, Neutropeni... ORPHA:33110
Wilson Disease
Depression, Failure to thrive, Difficulty walking, Splenomegaly, Increased body weight, Aggressiv... ORPHA:905
Familial Cold Autoinflammatory Syndrome 2
Recurrent fever, Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Elevated circulating ... OMIM:611762
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Spinal canal steno... ORPHA:289176
Genetic Transient Congenital Hypothyroidism
Lethargy, Constipation, Hypothermia, Increased circulating thyroglobulin concentration ORPHA:226316
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental e... ORPHA:1782
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Restrictive cardiomyopathy, Decreased lymphocyte pro... OMIM:619313
Autosomal Dominant Hypocalcemia
Depression, Hyperphosphatemia, Hypomagnesemia, Paresthesia, Emotional lability, Hypocalcemia, Wri... ORPHA:428
Isovaleric Acidemia
Vomiting, Pancytopenia, Leukopenia, Lethargy, Thrombocytopenia OMIM:243500
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Thrombocytopenia ORPHA:3327
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Elevated circulating creatinine concentra... OMIM:608104
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Obesity, Glucose intolerance, Emotional lability, Hypokalemia, Ab... OMIM:219090
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Combined Oxidative Phosphorylation Deficiency 3
Hyperammonemia, Tremor, Elevated circulating creatine kinase concentration, Hyponatremia, Ataxia,... OMIM:610505
Overlap Myositis
Abnormal circulating lipid concentration, Difficulty walking, Leukopenia, Elevated circulating cr... ORPHA:206572
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Severe Neurodegenerative Syndrome With Lipodystrophy
Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hyperactivity, Hypertriglyceridem... ORPHA:363400
Cockayne Syndrome
Severe short stature, Congenital contracture, Contractures of the large joints, Postnatal growth ... ORPHA:191
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia, Gait ataxia, Self-mutilation, Chronic constipation, Tremor, Agg... ORPHA:476126
Tangier Disease
Distal amyotrophy, Atherosclerosis, Facial diplegia, Coronary artery atherosclerosis, Left ventri... OMIM:205400
Tularemia
Brain abscess, Cutaneous abscess, Fever, Leukocytosis, Thrombocytopenia, Anemia ORPHA:3392
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Intrauterine growth retardation, Increased circulating IgA level,... OMIM:616395
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic an... OMIM:243150
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hyperaldosteronism, Hypokalemia, Nausea, Athetosis ORPHA:369929
Nijmegen Breakage Syndrome-Like Disorder
Short stature, Decreased circulating antibody level, Growth delay, Ataxia OMIM:613078
Rett Syndrome
Gastroesophageal reflux, Abnormal T-wave, Bruxism, Gait ataxia, Stereotypical hand wringing, Cach... OMIM:312750
Gamma-Heavy Chain Disease
Fever, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopeni... ORPHA:100026
Beta-Thalassemia Major
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Recurr... ORPHA:231214
Preeclampsia
Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia, Increa... ORPHA:275555
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Recurrent fever, Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglycerid... OMIM:617591
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal EKG OMIM:309930
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Failure to thrive, Postnatal growth retardation, Intrauterine growth... ORPHA:73272
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Lead Poisoning
Depression, Vomiting, Somatic sensory dysfunction, Imbalanced hemoglobin synthesis, Decreased HDL... ORPHA:330015
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, ... OMIM:618495
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Limitation of joint mobility, Recurrent aphtho... ORPHA:343
Mercury Poisoning
Tremor, Hypokalemia, Episodic vomiting, Anorexia, Nausea, Dystonia ORPHA:330021
Osteopetrosis With Renal Tubular Acidosis
Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase c... ORPHA:2785
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Adamantinoma
Hypercalcemia ORPHA:55881
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Short stature, Decreased circulating total IgM, Telangiectases of the cheeks OMIM:615139
Phenylketonuria
Depression, Self-mutilation, Irritability, Maternal hyperphenylalaninemia, Attention deficit hype... OMIM:261600
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Erdheim-Chester Disease
Polydipsia, Congestive heart failure, Osteomyelitis, Xanthelasma, Weight loss, Ataxia, Anemia, In... ORPHA:35687
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Dystonia OMIM:610333
Pediatric-Onset Graves Disease
Diarrhea, Polydipsia, Failure to thrive, Emotional lability, Splenomegaly, Irritability, Tremor, ... ORPHA:525731
Vipoma
Secretory diarrhea, Increased circulating cortisol level, Hypokalemia, Weight loss, Anorexia, Hyp... ORPHA:97282
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss, Tremor OMIM:613239
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Vomiting, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Leukocytosis, ... ORPHA:90065
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology OMIM:618709
Thrombotic Thrombocytopenic Purpura, Hereditary
Fever, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulo... OMIM:274150
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Mildly elevated creatine kinase, Postprandial hyperglycemia ORPHA:681
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Hemolytic anemia, Fever, Elevated creatine kinase after exercise ORPHA:57
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Gait ataxia, Dysmetria, Abnormal proportion of CD4-... ORPHA:217260
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Gait disturbance, Fused thoracic vertebrae, Short stature, Decreased circ... ORPHA:1445
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Impaired temperature sensation, Thrombocytopenia, Hypert... ORPHA:31150
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Limb dystonia, Small for gestational age ORPHA:621
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... OMIM:614576
T-Cell Immunodeficiency With Thymic Aplasia
Diarrhea, Failure to thrive, Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia ... ORPHA:83471
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Colonic eosinophilia, Eosinophilia, Decreased circulating total ... OMIM:617638
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Hypomagnesemia, Hyperaldosteronism, Intention tremor, Hypokalemia, Salt craving, Atax... OMIM:612780
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive, Abnormality of circulating cortisol level, Decreased circulating r... ORPHA:320
Staphylococcal Necrotizing Pneumonia
Fever, Leukopenia, Leukocytosis, Addictive alcohol use, Lethargy, Neutrophilia, Elevated circulat... ORPHA:36238
Medullary cystic kidney disease 2
Gout, Hyperuricemia OMIM:603860
Leptospirosis
Hypotension, Diarrhea, Hepatitis, Pulmonary hemorrhage, Elevated serum transaminases during infec... ORPHA:509
Cartilage-Hair Hypoplasia
Anemia, Failure to thrive, Hypocalcemia, Neutropenia ORPHA:175
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteopathia Striata-Cranial Sclerosis Syndrome
Severe short stature, Aortic valve stenosis, Coarse metaphyseal trabecularization, Facial hyperos... ORPHA:2780
Wolfram Syndrome 1
Sideroblastic anemia, Tremor, Megaloblastic anemia, Thrombocytopenia, Ataxia, Dysphagia, Diabetes... OMIM:222300
Graft Versus Host Disease
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Elevated circulating alkaline... ORPHA:39812
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Glucagonoma
Gastrointestinal hemorrhage, Depression, Diarrhea, Increased circulating cortisol level, Acanthoc... ORPHA:97280
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... ORPHA:231222
Cinca Syndrome
Recurrent fever, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-r... OMIM:607115
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopet... OMIM:612840
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... OMIM:607676
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Rheumatoid arthr... ORPHA:183675
Oncogenic Osteomalacia
Hypophosphatemia, Gait disturbance, Hypocalcemia ORPHA:352540
Non-Functioning Paraganglioma
Nausea, Weight loss, Hypercalcemia, Tremor ORPHA:94080
Tafro Syndrome
Fever, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circula... ORPHA:457077
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Hypothermia ORPHA:168593
Boutonneuse Fever
Vasculitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Leukopenia, Thromb... ORPHA:83313
Avian Influenza
Hypoalbuminemia, Diarrhea, Vomiting, Fever, Lymphopenia, Leukopenia, Elevated circulating creatin... ORPHA:454836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Familial Hyperaldosteronism Type Iii
Hypokalemia, Nausea, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:251274
Takenouchi-Kosaki Syndrome
Ataxia, Thrombocytopenia, Increased mean platelet volume OMIM:616737
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Leukocytosis, Fever, Recurrent fever OMIM:120100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Gait ataxia, Action tremor, Thrombocytopenia, Unsteady gait, Dy... OMIM:254900
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Achalasia, Thrombocytopenia OMIM:615750
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Letterer-Siwe Disease
Fever, Hepatosplenomegaly, Irritability, Neutropenia, Thrombocytopenia, Anemia, Stomatitis OMIM:246400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fever, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced... OMIM:300908
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Thoracolumbar kyphosis, Disproportionate short stature, Lymphopenia, Decreased cir... OMIM:617425
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia OMIM:615085
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Abnormal tendon morphology, Aort... ORPHA:391665
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Stroke, Carotid artery stenosis, Arteriosclerosis of small cerebral ar... OMIM:600142
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Palpitations, Elevated circulating creatine kinase concentr... OMIM:616812
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg... ORPHA:216694
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Inability to walk, Limb dystonia, High nonceruloplasmin-bound serum copp... ORPHA:457351
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Failure to thrive in infancy, Giant platelets, Thrombocytopenia OMIM:611209
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal vertebral morphology, Vasculitis, Inflammation of the large intestine, Craniofacial oste... ORPHA:324964
Cyclic Neutropenia
Recurrent fever, Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Peritonitis, E... ORPHA:2686
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Vomiting, Small for gestational age, Failure to thrive OMIM:618252
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia ORPHA:163979
Apparent Mineralocorticoid Excess
Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level OMIM:218030
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Irritability OMIM:612952
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Joint hypermobility, Overgrowth, D... OMIM:605309
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Hypothermia, Exaggerated startle response OMIM:608800
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Diarrhea, Fever, Protracted diarrhea, Acute colitis, Leukocytosis, Intestinal ob... ORPHA:67
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Polydipsia, Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increas... ORPHA:731
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Postinfectious Vasculitis
Abnormality of humoral immunity, Cardiomyopathy, Cerebral vasculitis, Elevated haptoglobin level,... ORPHA:48435
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Difficulty walking, Limited hip movement, Leukocytosis, Limitation of move... ORPHA:206594
Angiostrongyliasis
Vomiting, Stiff neck, Hypereosinophilia, Increased circulating specific IgE antibody, Increased c... ORPHA:74
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Short stature, Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Arrhythmia, Aggressi... OMIM:600430
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Cystinuria
Hyperuricemia ORPHA:214
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol level, Intestinal obstructi... ORPHA:97283
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Limited knee flexion/extension, Abnormal EKG, Inability to walk, Reduced left ventr... ORPHA:268
Anterior Cutaneous Nerve Entrapment Syndrome
Hyperesthesia, Somatic sensory dysfunction, Leukocytosis, Decreased body weight, Impaired tactile... ORPHA:51890
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Intestinal obstruction ORPHA:2323
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Hereditary Fructose Intolerance
Hypermagnesemia, Diarrhea, Vomiting, Reduced circulating aldolase concentration, Hyperuricemia, L... ORPHA:469
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Immunodeficiency 23
Ataxia, Failure to thrive, Increased circulating IgE level, Lymphopenia, Hemolytic anemia, Absces... OMIM:615816
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... ORPHA:90650
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte proliferat... OMIM:600802
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Recurrent aphthous stomatitis, Leukocytosi... OMIM:191900
Double Outlet Right Ventricle
Hypocalcemia, Failure to thrive ORPHA:3426
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Dihydropyrimidinase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Fail... OMIM:222748
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Advanced tarsal ossification, Advanced ossification of carpal bone... OMIM:215045
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Immunodeficiency 68
Abscess, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Vomiting, Hypercalcemia, Failure to thrive OMIM:239199
Insulin-Like Growth Factor I Deficiency
Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight,... OMIM:608747
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Pr... ORPHA:37553
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis OMIM:615703
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Decreased circulating carnit... ORPHA:71212
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Failure to thrive, Hyperbilirubinemia, Hyperuricemia, Hypophosphatem... OMIM:229600
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Thickened cortex of long bones, Generalized osteosclerosis, ... OMIM:607634
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia... OMIM:602450
Malignant Hyperthermia, Susceptibility To, 2
Malignant hyperthermia, Hyperphosphatemia, Fever, Elevated circulating creatine kinase concentrat... OMIM:154275
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Broad-based gait, Persistence of hemoglobin F, Limb ataxia, Recurrent ha... OMIM:617101
Sarcoidosis
Fever, Parotitis, Hypercalcemia, Leukopenia, Hypothermia, Increased T cell count, Eosinophilia, W... ORPHA:797
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Diarrhea, Vomiting, Abnormal circulating interleukin concentration, Increased circul... ORPHA:542323
Immunodeficiency 40
Focal active colitis, Eosinophilic granuloma, Recurrent fever, Intermittent diarrhea, Chronic dia... OMIM:616433
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Flexion contracture, Scoliosis, Transient hypogammaglobulinemia of infancy OMIM:251240
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis ORPHA:79084
12Q14 Microdeletion Syndrome
Failure to thrive, Abnormality of the spleen, Intrauterine growth retardation, Short stature, Ost... ORPHA:94063
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Immunodeficiency 59 And Hypoglycemia
Arteritis, Recurrent aphthous stomatitis, Decreased circulating antibody level, Prolonged neonata... OMIM:233600
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Umbilical hernia, Decreased cervical spine mobility, Pituitary dwarfism, Short neck, Lethargy, Co... ORPHA:226307
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypersplenism, Hyperbilirubinemia, Leukopenia, Sple... ORPHA:64743
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Failure to thrive, Hypertrophic cardiomyopath... OMIM:270400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Mitral regurgitation, Hernia, Short neck, Tachycardia, Inability to walk, Tri... ORPHA:505248
Familial Hyperaldosteronism Type Ii
Hypokalemia, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism ORPHA:404
Malignant Hyperthermia, Susceptibility To, 3
Malignant hyperthermia, Hyperphosphatemia, Fever, Elevated circulating creatine kinase concentrat... OMIM:154276
Holocarboxylase Synthetase Deficiency
Vomiting, Hyperammonemia, Irritability, Lethargy, Thrombocytopenia OMIM:253270
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Pain insensitivity, Broad-based gait, Fixated interests, Emotional labil... OMIM:620330
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Hematemesi... ORPHA:274
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Broad-based gait, Gastroesophageal reflux, Inability to... ORPHA:438213
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Large for gestationa... ORPHA:263455
Optic Atrophy 11
Stereotypical body rocking, Splenomegaly, Dysmetria, Attention deficit hyperactivity disorder, Co... OMIM:617302
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Hypokalemia, Nausea, Glucocortocoid-insensitive pr... ORPHA:231580
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Myopathy, Coronary artery atherosclerosis, Abnormality of skeletal muscle fiber ... ORPHA:2348
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Depression, Abnormality of thrombocytes, Failure to thrive, Gastroes... ORPHA:567
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration ORPHA:210136
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa... OMIM:259710
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Gaucher Disease Type 1
Elevated circulating CCL18 level, Splenic infarction, Depression, Increased circulating ferritin ... ORPHA:77259
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Dilated cardiomyopathy, Failure to thrive, Car... OMIM:242840
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Abnormal dental enamel morphology, Short neck, Hyperlordo... ORPHA:1798
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Failure to thrive, Lymphopenia, Hyperlipidemia, Decreas... ORPHA:1830
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia ORPHA:40366
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Paresthesia, Decreased circulating renin level, Hypokalemia... ORPHA:231625
Desmosterolosis
Severe short stature, Failure to thrive, Intrauterine growth retardation, Splenomegaly, Osteopetr... ORPHA:35107
Atypical Werner Syndrome
Aortic valve stenosis, Lipoatrophy, Chondrocalcinosis, Limitation of joint mobility, Failure to t... ORPHA:79474
Mhc Class Ii Deficiency 1
Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia, Protracted diarrhea, Agammaglobuli... OMIM:209920
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Polydipsia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Failure to... ORPHA:811
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
X-Linked Creatine Transporter Deficiency
Chorea, Ileus, Self-mutilation, Cachexia, Constipation, Hyperactivity, Abnormal circulating creat... ORPHA:52503
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
X-Linked Hypophosphatemia
Cellulitis, Disproportionate short stature, Limitation of joint mobility, Rickets, Sacroiliac joi... ORPHA:89936
Tufted Angioma
Anemia, Paresthesia, Thrombocytopenia ORPHA:1063
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
Shwachman-Diamond Syndrome 1
Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, ... OMIM:260400
Idiopathic Chronic Eosinophilic Pneumonia
Fever, Hypereosinophilia, Leukocytosis, Weight loss, Elevated circulating C-reactive protein conc... ORPHA:2902
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Acute Radiation Syndrome
Diarrhea, Vomiting, Fever, Lymphopenia, Thrombocytopenia, Granulocytopenia ORPHA:454831
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Abnormality of... OMIM:144750
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Leukopenia, Tremor, Opisthotonus, Thrombocytopenia, Neutropenia, Dystonia, Neonatal hypog... OMIM:616271
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Tremor, Gait distu... OMIM:214500
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Glycosuria, Failure to thrive, Hypokalemia, Hypophosphatemia, Constipation,... ORPHA:411629
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Limb ataxia, Gait ataxia, Spondylolisthesis, Increased vertebral height, ... OMIM:248500
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Pierson Syndrome
Retinal hemorrhage, Hypertension, Hypoproteinemia OMIM:609049
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Lipodystrophy, Familial Partial, Type 1
Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
Arterial Tortuosity Syndrome
Aortic root aneurysm, Aortic dissection, Arterial stenosis, Pulmonary artery stenosis, Aortic ane... ORPHA:3342
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Wars2-Related Combined Oxidative Phosphorylation Defect
Athetosis, Difficulty walking, Limb dystonia, Dysmetria, Tremor, Aggressive behavior, Thrombocyto... ORPHA:572798
Distal Renal Tubular Acidosis
Diarrhea, Polydipsia, Failure to thrive, Vomiting, Hypokalemia, Constipation, Hemolytic anemia ORPHA:18
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... OMIM:617600
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Atrioventricular dissociation, Atrial fibrillation, Tachycardia, Right bu... OMIM:614954
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Heat intolerance, Elevated creatine kinase after exercise ORPHA:284426
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Congenital Rubella Syndrome
Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia ORPHA:290
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Patent duc... ORPHA:2637
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Medial calcification of medium-sized arteries, Cerebral h... OMIM:177850
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Velocardiofacial Syndrome
Aggressive behavior, Emotional lability, Hypocalcemia OMIM:192430
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia, Arthritis, Hyperuricemia, Joint hypermobility ORPHA:93111
Severe Generalized Junctional Epidermolysis Bullosa
Vomiting, Dilated cardiomyopathy, Failure to thrive, Constipation, Enamel hypoplasia, Gastrointes... ORPHA:79404
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Exocrine pancre... ORPHA:552
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... OMIM:618838
Riddle Syndrome
Short stature, Decreased circulating IgG level, Ataxia OMIM:611943
Bohring-Opitz Syndrome
Vomiting, Limitation of joint mobility, Congenital contracture, Inability to walk, Intrauterine g... ORPHA:97297
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocytosis, Ataxia, Hy... OMIM:616084
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia OMIM:619693
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Myotonic Dystrophy 2
Decreased circulating IgG level, Palpitations, Elevated circulating creatine kinase concentration... OMIM:602668
Hoyeraal-Hreidarsson Syndrome
Failure to thrive, Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia ORPHA:3322
Hennekam Syndrome
Lymphopenia, Hypocalcemia, Splenomegaly ORPHA:2136
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia, Joint hypermobility, Aggressive... OMIM:261990
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:480864
Brucellosis
Depression, Granuloma, Fever, Failure to thrive, Vomiting, Anorexia, Hypersplenism, Leukopenia, L... ORPHA:1304
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Chronic diarrhea, Agammaglobulinemia... OMIM:601495
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Glycosuria, Pancytopenia, Leukopenia, Erythroid hyperpl... ORPHA:447
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothermia, Abnormal circulating lipid concentration ORPHA:488632
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Large for gestational age, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Self-injurious behavior, Intrauterine growth retardation, Obesity, Hyperlip... ORPHA:254346
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Vexas Syndrome
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia, Recur... OMIM:301054
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Elevated cir... ORPHA:2137
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fever, Abnormality of the spleen, Lymphocytosis,... ORPHA:79456
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Dysphagia, Neutropenia, Bradycardia, Jaundice, Growth delay OMIM:617248
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,... OMIM:615952
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Cerebral hemorrhage ORPHA:280679
Pseudoxanthoma Elasticum
Abnormal cerebral vascular morphology, Arterial stenosis, Vascular dilatation, Atherosclerosis ORPHA:758
Lysinuric Protein Intolerance
Diarrhea, Vomiting, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentra... OMIM:222700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Eosinophilic infiltration of the esophagus, Failure to thrive, Hypernatremia OMIM:615508
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Primary Hyperoxaluria
Elevated circulating hepatic transaminase concentration, Arterial occlusion, Failure to thrive, C... ORPHA:416
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Inability to walk, Splenomegaly, Conjugated hyperbilirubinemia, Ataxia, Hyperkale... OMIM:608885
Immunodeficiency 58
Failure to thrive, Cutaneous abscess, Atrophic scars, Recurrent aphthous stomatitis, Esophagitis,... OMIM:618131
Icf Syndrome
Umbilical hernia, Lymphopenia, Anemia, Short stature, Abnormality of neutrophils, Decreased circu... ORPHA:2268
Dysosteosclerosis
Platyspondyly, Osteopenia, Disproportionate short stature, Sclerosis of hand bone, Sclerosis of s... OMIM:224300
Viss Syndrome
Increased circulating IgE level, Chronic constipation, Contracture of the proximal interphalangea... OMIM:619472
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant diabetes mellitus, ... ORPHA:769
Common Variable Immunodeficiency
Vasculitis, Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy... ORPHA:1572
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Hyperphosphatemia, Fever, Vomiting, Elevated circulating creatinine concentration, Leuk... ORPHA:340
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Postprandial hyperglycemia, Hypomagnesemia, Obesity, Tremor, Weight loss, C... ORPHA:79102
Good Syndrome
Diarrhea, Abnormal leukocyte morphology, Dysphagia, Thrombocytopenia, Anemia, Diabetes mellitus ORPHA:169105
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia, Constipation, Short stature, Ovoid vertebral bodies OMIM:244450
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Athetosis, Primary hyperaldosteronism, Decreased circulating renin level OMIM:615474
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Diarrhea, Septic arthritis, Panhypogammaglobulinemia, Absent circulating B... OMIM:307200
Combined Oxidative Phosphorylation Deficiency 39
Congenital contracture, Intrauterine growth retardation, Sinus bradycardia, Joint contracture, Fl... OMIM:618397
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin ... OMIM:617052
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Williams Syndrome
Synostosis of joints, Mitral regurgitation, Overfriendliness, Radioulnar synostosis, Ataxia, Oste... ORPHA:904
Fetal Cytomegalovirus Syndrome
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia ORPHA:294
Helix Syndrome
Hypermagnesemia, Xerostomia, Polydipsia, Heat intolerance, Hypokalemia OMIM:617671
Omenn Syndrome
Fever, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophili... ORPHA:39041
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Graves Disease
Polyphagia, Weight loss, Hyperactivity, Congestive heart failure OMIM:275000
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Obesity, Hyperphosphatemia OMIM:103580
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Igg4-Related Thyroid Disease
Dysphagia, Hypocalcemia ORPHA:64744
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Leuko... OMIM:615190
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclerosis OMIM:209010
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia, Glycosuria OMIM:134600
Webb-Dattani Syndrome
Obesity, Gastroesophageal reflux, Hypernatremia OMIM:615926
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Pathologic fracture, Hyperoxaluria, Intermittent clau... OMIM:259900
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Nausea, Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating... ORPHA:231632
Scorpion Envenomation
Diarrhea, Vomiting, Glycosuria, Fever, Hyperglycemia, Paresthesia, Tremor, Hypokalemia, Increased... ORPHA:466677
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Hep... OMIM:615122
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Aicardi-Goutieres Syndrome 1
Fever, Inability to walk, Splenomegaly, Self-mutilation, Thrombocytopenia, Dystonia OMIM:225750
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Familial Thrombocytosis
Peripheral arterial stenosis, Transient ischemic attack, Miscarriage ORPHA:71493
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Sengers Syndrome
Thrombocytopenia OMIM:212350
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Decreased circulating IgG level, Rhizomelia, Osteopenia, Disproportionate short-li... OMIM:271510
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Abnormality of the shoulder girdle musculature, Increa... ORPHA:565612
Lig4 Syndrome
Failure to thrive, Pancytopenia, Type II diabetes mellitus, Thrombocytopenia, Acute lymphoblastic... OMIM:606593
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Kikuchi-Fujimoto Disease
Ataxia, Anorexia, Leukopenia, Low-grade fever, Splenomegaly, Anemia, Lymphocytosis, Weight loss, ... ORPHA:50918
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:49566
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia, Chro... OMIM:613989
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Diarrhea, Fever, Increased circulating ferritin concentration, ... OMIM:615846
Menkes Disease
Arterial stenosis, Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Va... ORPHA:565
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Argininemia
Vomiting, Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Episodic vomiting, Anore... OMIM:207800
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Raine Syndrome
Elevated circulating alkaline phosphatase concentration, Short neck, Hypophosphatemia, Enamel hyp... OMIM:259775
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physi... ORPHA:99867
Aorta Coarctation
Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent left superior vena cava,... ORPHA:1457
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Hyperkalemia, Fever, Elevated circulating creatine kinase concentration OMIM:268200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Broad-based gait, Falls, Tip-toe gait, Failure to thrive, Hypomagnesemia, Bruxism, Hepatosplenome... OMIM:619503
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Self-mutilation, Decreased body weight, Chronic constipation, Attention ... OMIM:619005
Thymic Neuroendocrine Tumor
Weight loss, Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Dysmetria, Gait disturbance, Ataxia, ST segment elevation, Increased serum pyruva... ORPHA:94125
Tick-Borne Encephalitis
Depression, Vomiting, Somatic sensory dysfunction, Leukopenia, Leukocytosis, Tremor, Thrombocytop... ORPHA:297
Digeorge Syndrome
Gastroesophageal reflux, Obesity, Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Attention... OMIM:188400
Hypothyroidism, Congenital, Nongoitrous, 2
Hyperbilirubinemia, Hypothermia, Lethargy, Constipation, Increased circulating thyroglobulin conc... OMIM:218700
Desmosterolosis
Rhizomelia, Joint contracture of the hand, Abnormal circulating cholesterol concentration, Failur... OMIM:602398
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Inability to walk, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia OMIM:617303
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Thrombocytopen... OMIM:617941
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Splenomegaly, Elevated circulating creatine ... ORPHA:264580
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Intrauterine growth retardation, Splenomegaly, Osteopetrosis, Short stature, Growth delay OMIM:618541
Pediatric Systemic Lupus Erythematosus
Diarrhea, Vomiting, Fever, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Thrombocyt... ORPHA:93552
Acute Liver Failure
Pain insensitivity, Gastrointestinal hemorrhage, Depression, Diarrhea, Fever, Hypoglycemia, Vomit... ORPHA:90062
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Failure to thrive, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, A... OMIM:618278
Renpenning Syndrome
Heterotaxy ORPHA:3242
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, Motor stereotypy ORPHA:79155
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Tremor OMIM:250800
Meacham Syndrome
Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Scimitar anomaly, Death in childhood, De... OMIM:608978
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Transaldolase Deficiency
Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Smal... OMIM:606003
Zika Virus Disease
Vomiting, Fever, Thrombocytopenia ORPHA:448237
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Increased HDL... ORPHA:70591
Choreoacanthocytosis
Resting tremor, Acanthocytosis, Emotional lability, Limb dystonia, Hair-pulling, Loss of ambulati... ORPHA:2388
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia OMIM:620365
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ... OMIM:145600
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Heat intolerance, Inappropriate laughter, Abnormal eating behavior, Recurrent h... ORPHA:98794
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Hyponatremia, Hyperkalemia OMIM:201810
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Small for gestational age, Thrombocytopenia, Elevated circulating creatine kinase con... OMIM:301056
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Thin bony cortex, Increased bone mineral density, Vertebral arch anomaly ORPHA:85184
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Grange Syndrome
Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Conjugated hyperbilirubinemia, Small for gestational age, Thrombocytopenia OMIM:208085
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granules, Thrombo... OMIM:187900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Elevated hepatic iron concentration OMIM:614946
Psoriasis 14, Pustular
Elevated circulating C-reactive protein concentration, Leukocytosis, Fever, Neutrophilia OMIM:614204
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accu... OMIM:618042
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Tachycardia, Abnormal circulating protein concentration, Elevated c... ORPHA:264675
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia... OMIM:613990
Monosomy 13Q34
Insulin resistance, Hematochezia, Obesity, Hypercalcemia ORPHA:96168
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Failure to thrive in infancy, Bruxism, Stereotypical body rocking, Tongu... ORPHA:261323
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting OMIM:615709
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Chronic Visceral Acid Sphingomyelinase Deficiency
Ataxia, Depression, Abnormal circulating lipid concentration, Increased LDL cholesterol concentra... ORPHA:77293
Hyper-Igd Syndrome
Vomiting, Diarrhea, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA lev... OMIM:260920
Spinal Cord Injury
Somatic sensory dysfunction, Paralytic ileus, Hypercalcemia, Dysesthesia, Allodynia ORPHA:90058
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis ORPHA:140905
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Elbow flexion contracture, Panniculitis, Transient hypogammaglob... ORPHA:3132
Liver Failure, Infantile, Transient
Hypoalbuminemia, Decreased circulating IgG level, Vomiting, Elevated circulating hepatic transami... OMIM:613070
Infantile Myofibromatosis
Hypercalcemia, Intestinal obstruction ORPHA:2591
Prolidase Deficiency
Anemia, Failure to thrive, Splenomegaly, Thrombocytopenia OMIM:170100
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Camurati-Engelmann Disease
Limitation of joint mobility, Abnormality of the vertebral column, Craniofacial osteosclerosis, H... ORPHA:1328
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Adult-Onset Still Disease
Fever, Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Le... ORPHA:829
Idiopathic Hypereosinophilic Syndrome
Vomiting, Fever, Failure to thrive, Somatic sensory dysfunction, Hepatosplenomegaly, Thrombocytos... ORPHA:3260
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Fever, Weight loss, Thrombocytopenia, Anemia, Abnormality ... ORPHA:36426
Sporadic Pheochromocytoma/Secreting Paraganglioma
Nausea, Weight loss, Hypercalcemia, Tremor ORPHA:276621
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia OMIM:616113
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Carpal synostosis, Camptodactyly of finger, Omphal... ORPHA:90652
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Deeah Syndrome
Impaired pain sensation, Exocrine pancreatic insufficiency, Chronic diarrhea, Self-mutilation, De... OMIM:619004
Friedreich Ataxia
Decreased pyruvate carboxylase activity, Congestive heart failure, Hypertrophic cardiomyopathy, A... OMIM:229300
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F OMIM:612561
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Vici Syndrome
Decreased circulating IgG level, Cardiomyopathy, Joint stiffness, Decreased circulating IgG2 leve... ORPHA:1493
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Short stature, Increased bone mineral density, Osteolytic defec... OMIM:265800
Birk-Landau-Perez Syndrome
Difficulty walking, Failure to thrive in infancy, Limb ataxia, Increased circulating creatine kin... OMIM:617595
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Anemia, Craniosy... ORPHA:79396
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Hydrocephalus, Dextrocardia, ... OMIM:314390
Bone Marrow Failure Syndrome 5
Erythroid hypoplasia, Anemia, Short stature, Pure red cell aplasia, Decreased circulating antibod... OMIM:618165
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Joint hypermobility, ... ORPHA:449291
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Atherosclerosis, Myopathy, Coronary artery atherosclerosis, Muscle hypertrophy of the lower extre... ORPHA:280365
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Caroli Syndrome
Fever, Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Hematemesis, Thrombocytopenia... ORPHA:480520
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Castleman Disease
Intestinal obstruction, Anemia, Weight loss, Thrombocytopenia, Elevated circulating C-reactive pr... ORPHA:160
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Akinesia, Splenomegaly, Decreased body weight, Opisthotonus, Thrombocytopenia... OMIM:608013
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Gout, Hyperuricemia OMIM:137920
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Absence of subcutaneous fat, Intestinal obstruction, Telangiecta... OMIM:601675
Lenz-Majewski Hyperostotic Dwarfism
Severe short stature, Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Ab... ORPHA:2658
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Congenital diaphragmatic hernia ORPHA:99811
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Pseudo-Torch Syndrome 1
Dystonia, Failure to thrive, Splenomegaly, Thrombocytopenia OMIM:251290
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins OMIM:618000
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Patent ductus arteriosus, Knee flexion contracture, Coronary artery athe... ORPHA:435638
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin, Failure to thrive ORPHA:98791
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Wiskott-Aldrich Syndrome
Hematochezia, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine... ORPHA:906
Iga Pemphigus
Cutaneous abscess, Eosinophilia, Increased circulating IgA level, Monoclonal elevation of circula... ORPHA:555905
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
3Q29 Microdeletion Syndrome
Gastroesophageal reflux, Failure to thrive, Joint hypermobility, Aggressive behavior, Attention d... ORPHA:65286
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Ppoma
Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol level, Intestinal obstructi... ORPHA:97278
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:3002
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Diabetes mellitus, Hypocalcemia ORPHA:2237
Atelis Syndrome 2
Gastroesophageal reflux, Hyperinsulinemia, Dysmetria, Attention deficit hyperactivity disorder, T... OMIM:620185
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Coronary artery atherosclerosis OMIM:618620
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Inguinal hernia, Agammaglobulinemia, Anemia, Reduced bone mineral density ORPHA:935
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Weight loss, Fever ORPHA:139402
Immunodeficiency 56
Hepatic failure, Failure to thrive, Panhypogammaglobulinemia, Chronic hepatitis due to cryptospor... OMIM:615207
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Heterotaxy, Visceral, 12, Autosomal
Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ... OMIM:619702
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Gastroesophageal reflux, Enlarged platelet dense granules, Hep... OMIM:608233
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Failure to thrive, Hyperaldosteronism, Hyperinsul... ORPHA:508
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Difficulty walking, Irritability, Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Multiple Endocrine Neoplasia, Type I
Diarrhea, Increased circulating cortisol level, Hypoglycemia, Esophagitis, Hypercalcemia OMIM:131100
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t... OMIM:256500
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Difficulty walking, Paresthesia, Antalgic gait, Hypophospha... ORPHA:249
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Exaggerated startle response, Dys... ORPHA:309246
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... OMIM:600901
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Nijmegen Breakage Syndrome
Diarrhea, Intrauterine growth retardation, Autoimmune hemolytic anemia, Conjunctival telangiectas... OMIM:251260
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypoglycemia, Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol lev... OMIM:201750
Hyperthyroidism, Nonautoimmune
Tachycardia, Small for gestational age, Hyperactivity, Increased circulating thyroglobulin concen... OMIM:609152
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Failure to thrive, Umbilical hernia, Microcytic anemia, Intrauterine growth retarda... ORPHA:99843
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Failure to thrive, Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol... ORPHA:90793
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Glycogen Storage Disease Ii
Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen... OMIM:232300
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia, Waddling gait OMIM:156400
Noonan Syndrome
Osteopenia, Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Postnata... ORPHA:648
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Sclerosis of skull base, Delayed pubic bone ossification, Elevated... OMIM:618162
Caroli Disease
Vomiting, Fever, Leukocytosis, Splenomegaly, Weight loss, Anorexia, Nausea, Conjugated hyperbilir... ORPHA:53035
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Alternating Hemiplegia Of Childhood
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Abnormal T-wave, Oral-pharyngeal dysphagia... ORPHA:2131
Down Syndrome
Gastroesophageal reflux, Polycythemia, Impaired pain sensation, Obesity, Type II diabetes mellitu... ORPHA:870
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Mohr-Tranebjaerg Syndrome
Shuffling gait, Inability to walk, Agammaglobulinemia, Attention deficit hyperactivity disorder, ... ORPHA:52368
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Fever, Hyperbilirubinemia, Hematemesis, Thrombocytopen... ORPHA:464321
Primary Sjögren Syndrome
Normocytic anemia, Vasculitis, Arteritis, Xerostomia, Parotitis, Chronic active hepatitis, Reduce... ORPHA:289390
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Combined Immunodeficiency Due To Crac Channel Dysfunction
Fever, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Congenital Sialidosis Type 2
Abnormal EKG, Umbilical hernia, Hepatosplenomegaly, Inguinal hernia, Dysmetria, Telangiectasia, A... ORPHA:93400
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... OMIM:227650
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Elevated circulating alkaline phosphatase con... OMIM:167250
Rh Deficiency Syndrome
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Intrauterine growth re... ORPHA:71275
Bartter Syndrome, Type 3
Hypokalemia, Hyperchloriduria, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Hutchinson-Gilford Progeria Syndrome
Precocious atherosclerosis, Premature coronary artery atherosclerosis OMIM:176670
Gaucher Disease, Type Ii
Gastroesophageal reflux, Failure to thrive, Splenomegaly, Thrombocytopenia, Anemia, Dysphagia OMIM:230900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia, Depression OMIM:600740
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Congestive heart failure, Abnormal QRS complex, Heart murmur, Abnormality of b... ORPHA:860
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-like episode, Right aortic... OMIM:300845
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Polydipsia OMIM:617994
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Cutis Marmorata Telangiectatica Congenita
Arterial stenosis, Arteriovenous malformation, Patent ductus arteriosus ORPHA:1556
Hereditary Pheochromocytoma-Paraganglioma
Nausea, Weight loss, Hypercalcemia, Tremor ORPHA:29072
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Vomiting, Failure to thrive, Episodic ataxia, Elevated circulating uracil concentration, Elevated... OMIM:311250
Lcat Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis ORPHA:650
Ciliary Dyskinesia, Primary, 29
Decreased circulating antibody level OMIM:615872
Rift Valley Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Anorexia, Anemia, Jaundice, H... ORPHA:319251
Cowden Syndrome 1
Subcutaneous lipoma, Lymphopenia, Decreased circulating antibody level, Scoliosis, Kyphosis OMIM:158350
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Perlman Syndrome
Hepatomegaly, Cryptorchidism, Abnormal pancreas morphology ORPHA:2849
Familial Mediterranean Fever
Diarrhea, Vomiting, Recurrent fever, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's di... OMIM:249100
Systemic Lupus Erythematosus
Depression, Fever, Leukopenia, Chorea, Weight loss, Thrombocytopenia, Anorexia, Hemolytic anemia ORPHA:536
Von Willebrand Disease
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Ab... ORPHA:903
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Depression OMIM:170390
Grfoma
Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol level, Intestinal obstructi... ORPHA:97261
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atherosclerosis ORPHA:209902
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol level, Esopha... ORPHA:913
Alopecia Antibody Deficiency
Short stature, Decreased circulating antibody level ORPHA:1006
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Increased susceptibility to fr... OMIM:119600
Farber Disease
Failure to thrive, Recurrent fever, Hepatosplenomegaly, Thrombocytopenia, Anemia, Chronic diarrhea ORPHA:333
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Pancolitis,... OMIM:618213
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Weight loss, Thrombocytopenia, Neutropenia, Anemia, Dysp... ORPHA:537
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Diabetes mellitus ORPHA:676
Proximal Renal Tubular Acidosis
Diarrhea, Polydipsia, Glycosuria, Failure to thrive, Vomiting, Hypokalemia, Bicarbonaturia ORPHA:47159
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Osteopetrosis, Sh... OMIM:259730
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Failure to thrive, Thrombocytopenia ORPHA:974
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Vomiting, Increased circulating lactate dehydrogenase c... ORPHA:90068
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Atherosclerosis ORPHA:425
Q Fever
Granuloma, Fever, Hepatosplenomegaly, Splenomegaly, Weight loss, Thrombocytopenia, Anorexia, Anemia ORPHA:781
Neurodegeneration With Brain Iron Accumulation 1
Phonic tics, Blepharospasm, Depression, Akinesia, Acanthocytosis, Obsessive-compulsive trait, Tre... OMIM:234200
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypokalemia, Decreased circulating cortisol level, Decreased circulating renin level ORPHA:90795
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Diamond-Blackfan Anemia 21
Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea OMIM:620072
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta... OMIM:227645
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Tempi Syndrome
Polycythemia, Increased hematocrit, Telangiectasia, Increased circulating IgG level, Intracranial... ORPHA:284227
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Congenital diaphragmatic hernia, Inguinal hernia, Joint hypermobility, O... OMIM:614437
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemia, Reticulocytopenia, Attention deficit hyperactivity disorder, Neutropenia, T... OMIM:227646
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Nelson Syndrome
Hypokalemia, Type II diabetes mellitus, Increased circulating cortisol level, Secondary hypercort... ORPHA:199244
Sponastrime Dysplasia
Platyspondyly, Delayed epiphyseal ossification, Rhizomelia, Disproportionate short-limb short sta... ORPHA:93357
Occipital Horn Syndrome
Gastroesophageal reflux, Gastroparesis, Esophagitis, Hypothermia, Dysphagia ORPHA:198
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Depression, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal circulating... OMIM:612716
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Urachal Cyst
Fever, Leukocytosis, Abscess, Peritonitis, Elevated circulating C-reactive protein concentration ORPHA:488
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Gastroesophageal reflux, Depression, Abnormal hemoglobin, Constipation, ... ORPHA:847
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:603467
Tyrosinemia, Type I
Hypermethioninemia, Gastrointestinal hemorrhage, Melena, Fever, Hypoglycemia, Failure to thrive, ... OMIM:276700
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Synostosis of joints, Rhizomelia, Neonatal short-limb short stature, Increased bon... ORPHA:50945
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Weight loss, Dysphagia, Constipation, Hypercalcemia ORPHA:143
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Chorea, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Acquired Methemoglobinemia
Methemoglobinemia, Vomiting ORPHA:464453
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Hellp Syndrome
Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocyto... ORPHA:244242
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Gastroesophageal reflux, Persistence of hemoglobin F OMIM:619769
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Charge Syndrome
Lymphopenia, Dysphagia, Hypocalcemia, Self-mutilation OMIM:214800
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased circulating cortisol level, Hypoglycemia ORPHA:786
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dysphagia, Thrombocytopenia ORPHA:261250
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Meckel Syndrome
Accessory spleen, Optic atrophy, Situs inversus totalis, Encephalocele, Cryptorchidism, Congenita... ORPHA:564
Coccidioidomycosis
Vasculitis, Atypical scarring of skin, Vasospasm, Granuloma, Abnormality of the vertebral column,... ORPHA:228123
Multiple Endocrine Neoplasia Type 1
Melena, Depression, Diarrhea, Increased circulating cortisol level, Gastroesophageal reflux, Vomi... ORPHA:652
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Lymphopenia, Pancytopenia, Leukopenia, Obesity, Thrombocytopenia, Anemia OMIM:620654
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Johanson-Blizzard Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hypocalcemia, Increased VLDL ... OMIM:243800
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Hip osteoarthritis, Limitation of joint mobility, Contractures of the l... ORPHA:580
Noonan Syndrome 4
Large for gestational age, Thrombocytopenia OMIM:610733
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Diarrhea, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia,... ORPHA:391487
Netherton Syndrome
Short stature, Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coronal craniosynostosis, Severe B lymphocytopenia, Failure to thrive, Postnatal growth retardati... ORPHA:83617
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
African Trypanosomiasis
Diarrhea, Second degree atrioventricular block, Third degree atrioventricular block, Vomiting, Co... ORPHA:3385
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Intestinal bleeding, Tremor, Thrombocytopenia, Ataxia, Anemia, Dystonia OMIM:612199
Nijmegen Breakage Syndrome
Acute leukemia, Autoimmune hemolytic anemia, Attention deficit hyperactivity disorder, Cachexia, ... ORPHA:647
Igg4-Related Kidney Disease
Arteritis, Decreased retinol-binding protein level, Decreased liver function, Increased circulati... ORPHA:449395
Whim Syndrome
Cellulitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Neutropenia, Dec... ORPHA:51636
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Difficulty walking, Ineffective esophageal peristalsis, Chronic constipa... OMIM:619482
Kaposiform Lymphangiomatosis
Fever, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia ORPHA:464329
Congenital Syphilis
Diarrhea, Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia ORPHA:499009
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Legius Syndrome
Xanthelasma, Paroxysmal atrial tachycardia, Multiple lipomas, Attention deficit hyperactivity dis... ORPHA:137605
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171300
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Aortic root aneurysm, Prominent veins on trunk, Varicose veins ORPHA:536532
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Neurodegeneration With Brain Iron Accumulation 2B
Chorea, Gait ataxia, Emotional lability, Dysmetria, Intention tremor, Dystonia, Hyperactivity, Br... OMIM:610217
Cerebellar-Facial-Dental Syndrome
Severe short stature, Infancy onset short-trunk short stature, Foot joint contracture, Failure to... ORPHA:444072
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Abnormal aortic morphology, Peripheral arterial stenosis, Macroglossia, ... ORPHA:217085
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... OMIM:105650
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Abnormal aortic morphology, Peripheral arterial stenosis, Macroglossia, ... ORPHA:217093
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Bun... ORPHA:99103
Blue Rubber Bleb Nevus
Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia OMIM:112200
Lathosterolosis
Abnormal platelet morphology, Failure to thrive, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Constipation, Dysphagia, Hypercalcemia ORPHA:99880
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased circulating cortisol level, Fasting hyperinsulinemia, Esophagitis, Hyperinsul... ORPHA:276152
Dubowitz Syndrome
Chronic diarrhea, Attention deficit hyperactivity disorder, Thrombocytopenia, Anemia, Abnormality... ORPHA:235
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... ORPHA:276244
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... ORPHA:562639
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Gastroesophageal reflux, HbH hemoglobin, Constipation, Hypochromic microcytic anemia, Reduced alp... OMIM:301040
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Pseudoxanthoma Elasticum
Stroke, Accelerated atherosclerosis, Coronary artery atherosclerosis OMIM:264800
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... OMIM:300291
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level OMIM:202010
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ataxia, Postural tremor, Splenomegaly, Truncal obesity, Thrombocytopenia, Truncal ataxia OMIM:301072
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena ORPHA:853
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Vomiting, Weight loss, Tremor ORPHA:91347
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Porphyria, Congenital Erythropoietic
Elevated circulating uroporphyrin concentration, Splenomegaly, Thrombocytopenia, Reduced erythroc... OMIM:263700
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Malignant Hyperthermia Of Anesthesia
Malignant hyperthermia, Hyperphosphatemia, Fever, Hyperkalemia, Elevated creatine kinase after ex... ORPHA:423
Pyomyositis
Fever, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation ORPHA:764
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormal temper tantrums, Broad-based gait, Abnormality of the spleen, Hepatosplenomegaly, Pancyt... ORPHA:2072
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Ogden Syndrome
Diarrhea, Vomiting, Polycythemia, Hyperbilirubinemia, Irritability, Iron deficiency anemia, Mater... OMIM:300855
Neurofibromatosis Type 1
Arterial stenosis, Rhabdomyosarcoma ORPHA:636
Diets-Jongmans Syndrome
Umbilical hernia, Heterotaxy, Ventricular septal defect OMIM:618846
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the pulmonary artery, Coronar... ORPHA:363618
Dextrocardia
T-wave inversion, Abnormality of the spleen, Abnormal EKG ORPHA:1666
Aicardi-Goutières Syndrome
Unexplained fevers, Neonatal alloimmune thrombocytopenia, Difficulty walking, Hepatosplenomegaly,... ORPHA:51
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Estrogen Resistance Syndrome
Coronary artery atherosclerosis ORPHA:785
Bcard Syndrome
Thrombocytopenia OMIM:612394
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Dyskeratosis Congenita
Splenomegaly, Thrombocytopenia, Anemia, Abnormality of neutrophils, Diabetes mellitus ORPHA:1775
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Igg4-Related Dacryoadenitis And Sialadenitis
Xerostomia, Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Throm... ORPHA:79078
Cardiac Diverticulum
Aortic valve stenosis, Congestive heart failure, Abnormal EKG, Umbilical hernia, Palpitations, Mi... ORPHA:1686
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Shor... OMIM:274000
Hypotrichosis And Recurrent Skin Vesicles
Abnormal EKG OMIM:613102
Distal Deletion 19P
Keloids, Umbilical hernia, Joint hypermobility, Vaginal hernia, Decreased circulating antibody level ORPHA:96129
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology ORPHA:280195
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Failure to thrive, Postnatal growth retardation, Sclerosis of sk... OMIM:269150
Hartsfield Syndrome
Hypernatremia OMIM:615465
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Sclerotic vertebral endplates, Sclerotic scapulae... OMIM:269500
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Abnormal pulse pressure, Increased QRS voltage, Abnormal T-wave, Reduced l... ORPHA:3093
Hardikar Syndrome
Vomiting, Failure to thrive, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly,... OMIM:301068
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Hyperextensibility at elbow, Failure to... ORPHA:500150
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Woodhouse-Sakati Syndrome
Osteopenia, Abnormal T-wave, Hyperlipidemia, Delayed puberty, Growth delay, Choreoathetosis ORPHA:3464
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral dens... OMIM:620558
Fibular Hemimelia
Difficulty walking, Thrombocytopenia ORPHA:93323
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Six lumbar vertebrae, Joint hypermobility OMIM:619122
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Chorioretinal scar, Elevated circulating creatinine concentration, Reduced hem... ORPHA:91500
Williams-Beuren Syndrome
Gastroesophageal reflux, Failure to thrive in infancy, Obesity, Glucose intolerance, Gait imbalan... OMIM:194050
Congenital Disorder Of Glycosylation, Type Iiw
Type I diabetes mellitus, Gastroesophageal reflux, Vomiting, Failure to thrive, Microcytic anemia... OMIM:619525
Dyskeratosis Congenita, X-Linked
Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Ataxia, Anemia OMIM:305000
Cornelia De Lange Syndrome 1
Self-injurious behavior, Gastroesophageal reflux, Thrombocytopenia OMIM:122470
Sotos Syndrome
Gastroesophageal reflux, Acute lymphoblastic leukemia, Tremor, Aggressive behavior, Attention def... ORPHA:821
Multiple Endocrine Neoplasia Type 2
Diarrhea, Hypercalcemia, Constipation ORPHA:653
Wolfram Syndrome 2
Decreased circulating antibody level, Impaired collagen-induced platelet aggregation OMIM:604928
Cockayne Syndrome Type 3
Vascular calcification, Skeletal muscle atrophy, Aortic root aneurysm, Premature coronary artery ... ORPHA:90324
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... ORPHA:980
Osteogenesis Imperfecta
Somatic sensory dysfunction, Paresthesia, Intestinal obstruction, Loss of ambulation, Gait distur... ORPHA:666
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short neck, Hemivertebrae, Vertebral f... OMIM:271520
Postaxial Acrofacial Dysostosis
Postnatal growth retardation, Radioulnar synostosis, Growth delay, Supernumerary vertebrae OMIM:263750
Jacobsen Syndrome
Failure to thrive, Thrombocytopenia OMIM:147791
Jacobsen Syndrome
Attention deficit hyperactivity disorder, Constipation, Thrombocytopenia ORPHA:2308
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Failure to thri... ORPHA:353281
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis OMIM:615812
Fanconi Anemia
Leukopenia, Weight loss, Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia ORPHA:84
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Distal amyotrophy, Premature coronary artery atherosclerosis, Abnormality o... ORPHA:909
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Broad-based gait, Failure to thrive, Inability to walk, Bruxism, Motor ste... ORPHA:261537
Igg4-Related Submandibular Gland Disease
Xerostomia, Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulatin... ORPHA:449432
Mowat-Wilson Syndrome
Aortic valve stenosis, Broad-based gait, Decreased body weight, Ataxia, Motor stereotypy, Dysphag... ORPHA:2152
Simpson-Golabi-Behmel Syndrome, Type 1
Cardiomyopathy, Polysplenia, Umbilical hernia, Birth length greater than 97th percentile, Tall st... OMIM:312870
Aceruloplasminemia
Elevated hepatic iron concentration, Abnormal pancreas morphology, Congestive heart failure ORPHA:48818
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Broad-based gait, Failure to thrive, Hyphema, Inability to walk, Bruxism, ... ORPHA:261552
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis OMIM:615947
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Failure to thri... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Self-injurious behavior, Gastroesophageal reflux, Abnormal fear-induced behavior, Failure to thri... ORPHA:353277
Friedreich Ataxia 2
Decreased pyruvate carboxylase activity, Congestive heart failure, Concentric hypertrophic cardio... OMIM:601992
Beckwith-Wiedemann Syndrome
Abnormal pancreas morphology, Umbilical hernia, Hypertrophic cardiomyopathy, Exocrine pancreatic ... ORPHA:116
Woodhouse-Sakati Syndrome
Hyperlipidemia, Choreoathetosis, Abnormal T-wave OMIM:241080
Semilobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:220386
Alobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:93926
Lobar Holoprosencephaly
Gastroesophageal reflux, Vomiting, Failure to thrive, Inability to walk, Lethargy, Constipation, ... ORPHA:93924
Holt-Oram Syndrome
Tricuspid regurgitation, Sacral dimple, Left ventricular noncompaction cardiomyopathy, Atrioventr... OMIM:142900
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Alkaptonuria
Methemoglobinemia, Hemolytic anemia ORPHA:56
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Right axis deviation, Pulmonary arterial ... ORPHA:1478
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Holoprosencephaly ORPHA:280200
Waardenburg Syndrome, Type 1
Supernumerary vertebrae OMIM:193500
Noonan Syndrome 1
Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia OMIM:163950

Histopathology

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

There is no histopathology data for Dll1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dll1.

No publications found that use IMPC mice or data for Dll1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Dll1tm40146(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dll1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Dll1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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