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

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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
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... 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, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Ab... ORPHA:100924
Central Diabetes Insipidus
Hyponatremia, Fever, Anorexia, Diarrhea, Depression, Weight loss, Lethargy, Polydipsia, Failure t... ORPHA:178029
Juvenile Paget Disease
Short stature, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hypertension, Hyperuricem... ORPHA:2801
Necrotizing Enterocolitis
Hyponatremia, Apnea, Small for gestational age, Diarrhea, Peritonitis, Leukocytosis, Bloody diarr... ORPHA:391673
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Fa... OMIM:613179
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Morgagni-Stewart-Morel Syndrome
Osteoarthritis, Osteoporosis, Obesity, Hypertension, Hyperostosis frontalis interna, Hyperuricemi... ORPHA:77296
Primary Basilar Invagination
Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck ORPHA:2285
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Ataxia, Neutropenia OMIM:616949
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased c... ORPHA:98813
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Hypomagnesemia, Thrombocytopenia, Respiratory insu... OMIM:613845
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel... OMIM:617718
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... OMIM:267700
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevat... OMIM:613327
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... OMIM:300400
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Primary Intestinal Lymphangiectasia
Lymphopenia, Chronic diarrhea, Decreased circulating antibody level, Weight loss, Decreased circu... ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Fever, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin c... OMIM:603553
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Chronic diarrhea, Oligoarthritis, Growth delay, Decrea... OMIM:619510
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Hepatos... OMIM:619644
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive, Panhypogammaglobulinemia OMIM:269840
Herpes Simplex Virus Encephalitis
Hyponatremia, Respiratory failure requiring assisted ventilation, Fever, Neutrophilia, Elevated c... ORPHA:1930
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... ORPHA:398063
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... ORPHA:199299
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Hyperuricemia, Cardiomyopathy ORPHA:3222
Dysplasia Of Head Of Femur, Meyer Type
Waddling gait, Fever, Leukocytosis, Antalgic gait ORPHA:168621
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Short stature, Decreased circulating IgA level, Decreased circulating antibody... OMIM:617744
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Elevated hepatic transaminase, Tachycardia, Small for gestational age, Ele... ORPHA:26793
Alpha-Heavy Chain Disease
Fever, Splenomegaly, Hypocalcemia, Anemia ORPHA:100025
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention tremor OMIM:610539
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Incr... ORPHA:86816
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... OMIM:619281
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Pulmonary embolism, Diarrhea, Decreased circulating antibody level, Growt... OMIM:226300
Malaria
Respiratory distress, Fever, Elevated circulating C-reactive protein concentration, Anemia, Gait ... ORPHA:673
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... OMIM:612526
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Secretory diarrhea, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increased circu... OMIM:214700
Whipple Disease
Hyponatremia, Gastrointestinal hemorrhage, Fever, Ataxia, Anorexia, Cachexia, Splenomegaly, Diarr... ORPHA:3452
Sitosterolemia 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618666
Snakebite Envenomation
Hyponatremia, Epistaxis, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory f... ORPHA:449285
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Failure to thrive, Abnormality of thrombocytes, Hypocalcemia ORPHA:172
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Shigellosis
Hyponatremia, Fever, Failure to thrive in infancy, Pneumonia, Anorexia, Abscess, Hypoglycemia, Th... ORPHA:810
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Vomiting,... ORPHA:94093
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Dyspnea, T... OMIM:607616
X-Linked Agammaglobulinemia
Fever, Recurrent cutaneous abscess formation, Sinusitis, Thrombocytopenia, Chronic diarrhea, Recu... ORPHA:47
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... ORPHA:229
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Hypoalphalipoproteinemia, Primary, 2
Tendon xanthomatosis, Premature coronary artery atherosclerosis OMIM:618463
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Immunodeficiency 15B
Monocytosis, Failure to thrive, Chronic diarrhea, Reduced natural killer cell count OMIM:615592
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Anorexia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea... ORPHA:169160
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Diarrhea, Leukopenia, Hypotension, L... ORPHA:99828
Hereditary Coproporphyria
Hyponatremia, Fever, Abnormal circulating porphyrin concentration, Respiratory insufficiency, Epi... ORPHA:79273
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Fever, Leukocytosis, Depression, Thrombocytopenia ORPHA:83601
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymp... OMIM:612692
Wolcott-Rallison Syndrome
Hyponatremia, Fever, Neonatal insulin-dependent diabetes mellitus, Neutropenia, Hyperammonemia, I... ORPHA:1667
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm... ORPHA:331206
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis ORPHA:3180
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Pare... OMIM:175500
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Short stature, Decreased body weight OMIM:616311
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Capillary leak, Protracted ... OMIM:615758
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, In... OMIM:615559
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Paresthesia, Hypocalcemia OMIM:615361
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Ménétrier Disease
Gastrointestinal hemorrhage, Anorexia, Diarrhea, Hypochromic microcytic anemia, Weight loss, Hypo... ORPHA:2494
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Nonketotic hypoglycemia, Ataxia, Apnea, Anorexia, Thrombocytosis, Hypothermia, Diarrhea, T... ORPHA:20
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Mirage Syndrome
Hyponatremia, Hypoglycemia, Thrombocytopenia, Chronic diarrhea, Hyperkalemia, Hypoplastic spleen,... OMIM:617053
Congenital Enterovirus Infection
Respiratory distress, Fever, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leuko... ORPHA:292
Rhabdoid Tumor
Fever, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, Irritability, Anemia ORPHA:69077
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Asthma, Leukopenia, Monocytosis OMIM:616871
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, ... OMIM:603552
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Alg8-Cdg
Hyponatremia, Ataxia, Small for gestational age, Thrombocytopenia, Diarrhea, Vomiting, Failure to... ORPHA:79325
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Scleroti... OMIM:615198
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B ... OMIM:614069
Legionnaires Disease
Hyponatremia, Fever, Ataxia, Anorexia, Splenomegaly, Diarrhea, Respiratory insufficiency, Restric... ORPHA:549
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Elevated circulating aspartate a... OMIM:227810
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Short stature, Hyperuricemia ORPHA:364
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Diarrhea, Irritability, Athetosis, Leukopenia, Ne... OMIM:229050
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congestive hea... OMIM:615895
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Short stature, Postnatal growth retarda... OMIM:212750
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antib... OMIM:607594
Spondylosis, Cervical
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis OMIM:184300
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Hyperkalemic Periodic Paralysis
Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Hyperkalemi... ORPHA:682
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp... OMIM:613101
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Glycogen Storage Disease Ixa1
Growth delay, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Fever, Aplastic anemia, Pneumonia, Eosinophilia, Diarrhea, Acute lymphobl... ORPHA:486
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Constipation, Gastroesophageal reflux, Dysphagia, Failure to thri... DECIPHER:45
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Decreased plasma free carnitine, Bradycardia, Hyperalaninemia, Failure ... OMIM:619048
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Short stature, Abnormal T cell morphology, Generalized bone deminerali... OMIM:215250
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Splenomegaly, Chronic diarrhea, Chronic lymphatic leukemia, Growth de... OMIM:616005
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity disorder OMIM:617182
Immunodeficiency 32B
Fever, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchie... OMIM:226990
Cholera
Hyponatremia, Fever, Hypoglycemia, Diarrhea, Tachypnea, Abnormal blood ion concentration, Irritab... ORPHA:173
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Ab... ORPHA:760
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormal immunoglobulin le... ORPHA:276
Adult Idiopathic Neutropenia
Fever, Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocy... ORPHA:2688
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Elevated hepatic transaminase, Pericarditis, Failure to thrive, Ataxia, Kyphosis, Abn... OMIM:212065
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Fever, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-d... ORPHA:556037
Bartter Syndrome, Type 2, Antenatal
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, H... OMIM:241200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Congestive heart... ORPHA:79083
Hypoadrenocorticism, Familial
Hyponatremia, Apnea, Hypoglycemia, Hyperkalemia, Vomiting OMIM:240200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypoglycemia, Hypothermia OMIM:615026
Generalized Pustular Psoriasis
Hyponatremia, Fever, Elevated circulating C-reactive protein concentration, Overweight, Leukocyto... ORPHA:247353
Colchicine Poisoning
Hyponatremia, Respiratory distress, Diarrhea, Leukocytosis, Abnormal blood ion concentration, Car... ORPHA:31824
Ataxia-Telangiectasia
Conjunctival telangiectasia, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decrea... OMIM:208900
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia, Thrombocytopenia, Splenomegaly, Neutropenia, Hyperammonemia, Chor... ORPHA:79312
Immunodeficiency 69
Fever, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Diarrhea, Leukoc... OMIM:618963
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Vasculitis, Increased circulating IgM... ORPHA:37748
Bartter Syndrome, Type 1, Antenatal
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational a... OMIM:601678
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Failure to thrive OMIM:613090
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hypouricemia, Short stature, Large for gestational age, Rickets, E... OMIM:616026
Galactosialidosis
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Obesity, Myocardial infarction OMIM:608320
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Kyphosis, Unsteady gait, Decreased circulating total IgM, Scoliosis, Decreased circulatin... OMIM:300861
Immunodeficiency 47
Normocytic anemia, Leukopenia, Accessory spleen, Tricuspid regurgitation, Decreased circulating c... OMIM:300972
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Small for gestational age, Hyperkalemia, Glycosuria,... ORPHA:97362
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Congestive heart fa... OMIM:203800
Maternal Uniparental Disomy Of Chromosome 4
Impaired vibratory sensation, Ataxia, Elevated circulating creatine kinase concentration, Abetali... ORPHA:96180
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Increased susceptibility to fractures, Decreased ci... OMIM:619752
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia ORPHA:517
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination... OMIM:308230
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiting, Failure to thrive OMIM:264350
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting, Failure to thrive, Recur... OMIM:203400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Intrauterine g... OMIM:617056
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Thrombocytopenia, Diarrhea, Peritonitis, Elevated circulating crea... ORPHA:90038
Glycogen Storage Disease Ia
Short stature, Hyperlipidemia, Osteoporosis, Gout, Growth delay, Xanthelasma, Hypertension, Hyper... OMIM:232200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Giant platelets, Macrothrombocytopenia, Neutrophil inclusi... OMIM:155100
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Macular scar, Ank... OMIM:239000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Dystonia, Ataxia, Depression ORPHA:163921
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Short ... OMIM:613385
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hyperchlorhidrosis, Isolated
Hyponatremia, Failure to thrive, Hyperkalemia OMIM:143860
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
2P21 Microdeletion Syndrome
Failure to thrive, Hypoglycemia, Hypocalcemia ORPHA:163693
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia... ORPHA:95409
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to... OMIM:617765
Thrombocytopenia 1
Congenital thrombocytopenia, Epistaxis, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... ORPHA:171876
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short stature, Diarrhea, Increased circulating IgM level, T lymphocytopenia, Failure to thrive, R... OMIM:242860
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Hypoglycemia, Hypothermia, Respiratory insufficiency, Respiratory ... OMIM:245400
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched memory B ce... OMIM:619652
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Increased circulating ren... OMIM:610600
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Spontaneous Periodic Hypothermia
Ataxia, Hypothermia, Tremor, Diarrhea, Gait disturbance, Abnormal pattern of respiration ORPHA:29822
Autoinflammation With Infantile Enterocolitis
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating... OMIM:616050
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Primary Erythromelalgia
Leukemia, Abnormality of thrombocytes, Hypothermia ORPHA:90026
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomi... OMIM:177735
Hypophosphatasia
Failure to thrive in infancy, Hypercalcemia, Respiratory insufficiency, Irritability, Emphysema, ... ORPHA:436
Bartter Syndrome Type 4
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increase... ORPHA:89938
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase, Dysphagia OMIM:620265
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Chylomicron Retention Disease
Impaired vibratory sensation, Failure to thrive, Diarrhea, Decreased LDL cholesterol concentratio... OMIM:246700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopa... OMIM:614702
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Spleno... OMIM:616100
Buschke-Ollendorff Syndrome
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture, Scoliosis OMIM:166700
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Failure to thrive, Chronic neutropenia, Atrophic gastr... OMIM:614700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Eosinophilia, Increased circulating IgE level, Sterile abscess, Spinal canal steno... OMIM:618282
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Hyperkalemia, Failure to thrive OMIM:614736
Meningococcal Meningitis
Fever, Neonatal respiratory distress, Projectile vomiting, Elevated circulating C-reactive protei... ORPHA:33475
Immunodeficiency 27A
Fever, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, W... OMIM:209950
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypoplasia of t... OMIM:603554
Cln3 Disease
Ataxia, Aggressive behavior, Vacuolated lymphocytes, Bradykinesia, T-wave inversion, Bradycardia,... ORPHA:228346
Glycogen Storage Disease Ixb
Growth delay, Short stature, Hyperuricemia OMIM:261750
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... OMIM:603909
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Diarrhea, Decreased circulating IgG level, Partial absenc... OMIM:240500
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, Weight lo... ORPHA:507
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Impaired vibration sensation in the lower ... OMIM:159550
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... OMIM:616834
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase OMIM:242880
Multiple Myeloma
Osteopenia, Tall stature, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated ... ORPHA:29073
Beta-Ketothiolase Deficiency
Anorexia, Hyperammonemia, Weight loss, Hypertension, Agitation, Hyperuricemia, Hypotension, Oral ... ORPHA:134
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Autoimmune Hypoparathyroidism
Dyspnea, Depression, Irritability, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypocalcemic tet... ORPHA:36913
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Beta-Thalassemia
Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, ... ORPHA:848
Coenzyme Q10 Deficiency, Primary, 7
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Bradycardia, Dysphagia OMIM:616276
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased proportion of CD3-posit... ORPHA:275
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Constipation, Bradycardia, Prolonged neonatal j... ORPHA:95717
Burkitt Lymphoma
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Hyperuricemia, De... ORPHA:543
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Fever, Diabetes mellitus, Pneumonia, Dyspnea, Diar... ORPHA:544482
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Thrombocytopenia, Chorea, Neutropenia, Hyperammonemia, Choreoathetosis, Dys... ORPHA:289916
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Hypothermia, Dyspnea, Diarrhea, Insulin resistance, Elevated circulating creatinine... ORPHA:230
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Diarrhea, Hyp... ORPHA:361
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu... OMIM:602522
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Failure to thrive, Ataxia, Erythroid hypoplasia, Diarrhea, Retic... OMIM:275350
Enterokinase Deficiency
Diarrhea, Failure to thrive, Hypoproteinemia OMIM:226200
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Raynaud phe... ORPHA:331235
Lesch-Nyhan Phenotype With Normal Hgprt
Self-mutilation, Hyperuricemia OMIM:308950
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Ataxia, Decreased lymphocyte proliferation in response to anti-CD3, Hyperlordosis, Di... ORPHA:221139
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Nephrotic Syndrome, Type 1
Small for gestational age, Hyperlipidemia, Growth delay, Gastroesophageal reflux, Hypoalbuminemia... OMIM:256300
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Hypoglycemia... ORPHA:85138
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Apneic episodes in infancy, Hypoglycemia, Hypothermia OMIM:610006
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Normo... OMIM:618775
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ab... OMIM:618048
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Anorexia, Hypersplenism, Thrombocytopen... ORPHA:77259
Glycogen Storage Disease Ib
Short stature, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hypertension, Hyperuricemia, Dela... OMIM:232220
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... OMIM:619381
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia, Respiratory insufficiency, Dystonia OMIM:614654
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemi... ORPHA:37042
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, G... ORPHA:90041
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Hypocholester... OMIM:610883
Japanese Encephalitis
Hyponatremia, Respiratory distress, Fever, Neutrophilia, Anorexia, Tremor, Diarrhea, Opisthotonus... ORPHA:79139
Thrombotic Thrombocytopenic Purpura
Fever, Reticulocytosis, Dyspnea, Diarrhea, Microangiopathic hemolytic anemia, Decreased serum cre... ORPHA:54057
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis OMIM:185500
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Failure to thrive, Bradycardia, Cardiac arrest OMIM:618235
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Bone-marrow foam cells, Hypersplenism, Diarrhea, Va... ORPHA:275761
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... OMIM:308240
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammone... ORPHA:159
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Intestinal obstruction, Right ventricular failure,... ORPHA:90363
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... OMIM:617099
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Splenomegaly, Irritability, Dystonia, Loss of ambulation, Thrombocytopenia OMIM:615010
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Diarrhea, Impaired proprioception, Vomiting, Steatorrhea, F... ORPHA:71
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Intermittent hypothermia, Di... OMIM:608643
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Diffuse Alveolar Hemorrhage
Fever, Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis,... ORPHA:90060
Porphyria Variegata
Hyponatremia, Somatic sensory dysfunction, Abnormal circulating porphyrin concentration, Ileus, C... ORPHA:79473
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thromboc... ORPHA:293978
Hypotonia-Cystinuria Syndrome
Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia OMIM:606407
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Anorexia, Tachypnea, Hyperammonemia, Weight loss, Irritability, Let... ORPHA:79242
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Cryptogenic Organizing Pneumonia
Respiratory distress, Fever, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactiv... ORPHA:1302
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Attention deficit hyperactivity disorder, Obesity ORPHA:261222
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia ORPHA:100024
Propionic Acidemia
Pancytopenia, Apnea, Hypoglycemia, Thrombocytopenia, Tachypnea, Neutropenia, Hyperammonemia, Cons... OMIM:606054
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... ORPHA:566943
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fever, Sinusitis, Elevated circulating creatine kinase concentration, Pneum... ORPHA:36234
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Neutropenia, Fa... OMIM:615285
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Bloody diarrhe... ORPHA:99826
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... ORPHA:35909
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Growth delay, Decreased... OMIM:619774
Hereditary Xanthinuria
Reduced xanthine dehydrogenase level, Hypouricemia, Sulfite oxidase deficiency, Gout, Hyperxanthi... ORPHA:3467
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis ORPHA:1192
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... ORPHA:199296
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... OMIM:136300
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit... ORPHA:79324
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly,... OMIM:607765
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Telangiectasia of the skin, Ataxia, Short stature, De... ORPHA:100
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, Respiratory insufficiency, Choreoath... ORPHA:27
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Hypovolemia, Elevated c... ORPHA:411634
Sepsis In Premature Infants
Tachycardia, Increased circulating interleukin 6 concentration, Small for gestational age, Elevat... ORPHA:90051
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia OMIM:259700
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Decreased circulating ... ORPHA:508533
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop... OMIM:615767
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Vomiting OMIM:620126
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Fever, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv... ORPHA:158057
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypertriglyceridemia, Short stature, Epistaxis, Hyperlipidemia, Osteoporosis, Gout, I... ORPHA:79259
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Infant Botulism
Hyponatremia, Anorexia, Bowel incontinence, Respiratory insufficiency due to muscle weakness, Dys... ORPHA:178478
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hy... OMIM:251880
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... OMIM:609813
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurre... OMIM:601457
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Irritability, Vomiting, Constipation, Unexplained fevers, Polydipsia, Hypernat... OMIM:125800
Hypophosphatasia, Infantile
Fever, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Apnea, Irritability, Vomiting, Con... OMIM:241500
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Aggressive behavior, Jaundice, Flexion contracture, Hypoproteinemia OMIM:608093
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Irritability, Vomiting, Constipation, Unexplained fevers, Polydipsia, Hypernat... OMIM:304800
Timothy Syndrome
Hypoglycemia, Pneumonia, Hypothermia, Hypocalcemia, Pulmonary arterial hypertension OMIM:601005
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Ataxia, Hypoglycemia, Hypothermi... ORPHA:79282
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Lesch-Nyhan Syndrome
Hyperuricemia, Gout ORPHA:510
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Babesiosis
Fever, Hemolytic anemia, Anorexia, Splenomegaly, Respiratory insufficiency, Depression, Leukopeni... ORPHA:108
Johanson-Blizzard Syndrome
Short stature, Intrauterine growth retardation, Failure to thrive, Hypoproteinemia, Anemia, Exocr... ORPHA:2315
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Polyphagia, Obesity, Hypertension, Childhood-onse... ORPHA:71529
Familial Hypoaldosteronism
Hyponatremia, Diarrhea, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thr... ORPHA:427
Relapsing Fever
Fever, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocyt... ORPHA:91547
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f... OMIM:616299
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Obesity, Intrauterine growth retardation, Hypertrophic cardio... OMIM:620270
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Systemic Lupus Erythematosus 17
Fever, Autoimmune thrombocytopenia, Chorea, Leukopenia, Recurrent fever, Lymphopenia, Thrombocyto... OMIM:301080
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Cardiac arrest, Elevated circulating creatine kinase concentration... OMIM:212138
Schimke Immunoosseous Dysplasia
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia, Intrauterine ... OMIM:242900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Fever, Decreased circulating cortisol level, Hypoglycemia, Pneumonia, Hyperkalemia,... ORPHA:90790
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Somatic sensory dysfunction, Fever, Tremor, Diarrhea, Ileus, Respirat... ORPHA:79276
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Decreased proportion o... OMIM:619705
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctation of aorta, Calf muscle h... OMIM:619178
Sneddon Syndrome
Intracranial hemorrhage, Arterial stenosis ORPHA:820
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Respiratory distress, Hypoglycemia, Hyperammonemia, Leukopenia, Vomiting,... OMIM:251000
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced ... OMIM:620210
Isolated Agammaglobulinemia
Fever, Recurrent cutaneous abscess formation, Sinusitis, Pneumonia, Abnormality of neutrophils, T... ORPHA:229717
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... ORPHA:100973
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Cog4-Cdg
Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Irritability, Intermittent diarrhea, Hy... ORPHA:263501
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Dystonia OMIM:619302
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column OMIM:602475
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Tachypnea, Vomiting, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia, Ata... ORPHA:3008
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune thrombocytopen... ORPHA:436159
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Growth delay, Joint contracture of the 5th finger, Bradycardia, Failure t... OMIM:614407
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Gait disturbance, Decreased circulating antibody level ORPHA:2572
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia, Unexplai... OMIM:614727
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Constipation, Bradycardia, Prolonged neonatal j... ORPHA:95716
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Anorexia, Megaloblastic anemia, Diarrhea, Paresthesia, Lethargy, Thrombocytopenia ORPHA:49827
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Encopresis, Chorea, Depression, Irritabili... ORPHA:66624
Lethal Ataxia With Deafness And Optic Atrophy
Abnormal erythrocyte enzyme level, Hypouricemia, Ataxia ORPHA:1187
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Difficulty walking ORPHA:564003
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ... OMIM:618987
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Molybdenum Cofactor Deficiency, Complementation Group C
Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Hypertaurinemia, Hypocy... OMIM:615501
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Ataxia, Short stature, Growth delay, Epiphyseal stippling, Gastroesophageal reflux,... ORPHA:251009
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation DECIPHER:8
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Chronic diarrh... ORPHA:330001
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired proprioception,... ORPHA:14
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... ORPHA:572
Pearson Syndrome
Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Small for gestational age, Thrombocytop... ORPHA:699
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Small for gestational age, Rhizomelia, Decreased circulating tot... OMIM:607143
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Umbilical hernia, Thrombocytopenia, Decreased circulating ... OMIM:616638
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620125
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... ORPHA:98826
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... OMIM:620005
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Small for gestational age, ... ORPHA:125
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ... ORPHA:158048
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hypoparathyroidism, Familial Isolated, 1
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hypoventilation, Fever, Central hypoventilation, Hypothermia, Aggressive behavior, ... ORPHA:293987
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia, Dystonia OMIM:619301
Riddle Syndrome
Conjunctival telangiectasia, Ataxia, Short stature, Elevated circulating alpha-fetoprotein concen... ORPHA:420741
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... ORPHA:3261
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Short stature, Decreased circulating total IgM, Gastroesophageal... OMIM:620040
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Elevated circul... OMIM:620366
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Tachypnea, Hyperhomocystinemia, Pulmonary arterial hyp... OMIM:614857
Pituitary Apoplexy
Hyponatremia, Fever, Hypoglycemia, Increased circulating cortisol level, Normochromic anemia ORPHA:95613
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Cystinosis
Fever, Hypokalemia, Gait disturbance, Vomiting, Hypophosphatemia, Type I diabetes mellitus, Polyd... ORPHA:213
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin concentration... OMIM:300635
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Short stature ORPHA:2204
Tetanus
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Hypertension, Bradyc... ORPHA:3299
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Polyphagia, Obesity, Tall stature OMIM:618406
Aapoaiv Amyloidosis
Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac co... ORPHA:439232
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae ORPHA:2064
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Fever, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-r... ORPHA:36238
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Vom... ORPHA:90794
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Paresthesia, Hyp... OMIM:601198
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia ORPHA:371
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Failure to thrive, H... OMIM:266510
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T... OMIM:618108
Chronic Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Fever, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Chronic diarrhea, Agammaglobulinemia, Decreased circulating total IgM, T l... OMIM:300755
Acute Bilirubin Encephalopathy
Central apnea, Hemolytic anemia, Fever, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Stiff neck, Elevated circulating C-reactive protein concent... ORPHA:319213
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Neonatal asphyxia, Hyperkalemia, Increased ci... ORPHA:90791
Xanthinuria, Type Ii
Increased circulating hypoxanthine concentration, Hypouricemia, Hyperxanthinemia OMIM:603592
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Constipation, Bradycardia, Prolonged ... ORPHA:226313
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Fever, Anemia of inadequate p... ORPHA:86839
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... OMIM:615745
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Failure to thrive, Diarrhea, Increased circulating IgE level, Lack of T cell functio... ORPHA:277
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Diarrhea,... ORPHA:2070
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Growth delay, Umbilical hern... ORPHA:90674
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Inability to walk, Splenomegaly, Hypokalemia, Gastroesophageal reflux, ... OMIM:617913
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Dyspnea, Splenomegaly, Tachypnea, Constipation, Hypophosphatemia, Poly... OMIM:239200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytope... OMIM:612541
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia... ORPHA:94090
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Low alkaline phosphat... ORPHA:369837
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... ORPHA:169079
Developmental And Epileptic Encephalopathy 78
Inability to walk, Chorea, Hypothermia OMIM:618557
Glutamine Deficiency, Congenital
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly OMIM:610015
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi... OMIM:617780
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal... ORPHA:3152
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Ethylene Glycol Poisoning
Ataxia, Gastritis, Hypothermia, Abnormal pattern of respiration, Tachypnea, Hyperkalemia, Episodi... ORPHA:31826
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Short stature, Eosinoph... ORPHA:353298
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Hyperostos... ORPHA:2485
Panhypophysitis
Hyponatremia, Decreased circulating cortisol level, Normochromic anemia, Polydipsia, Nausea ORPHA:95513
Monosomy 18Q
Left-to-right shunt, Short stature, Kyphoscoliosis, Congestive heart failure, Choreoathetosis, Gr... ORPHA:1600
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Intellectual Developmental Disorder, Autosomal Dominant 70
Hyponatremia, Failure to thrive OMIM:620157
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Molybdenum Cofactor Deficiency, Complementation Group A
Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxida... OMIM:252150
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Decreased circulating total IgA, Attention deficit hyperactivit... ORPHA:1929
Acute Monoblastic/Monocytic Leukemia
Fever, Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic ... ORPHA:514
Glucose-Galactose Malabsorption
Fever, Failure to thrive, Hypercalcemia, Diarrhea, Weight loss, Vomiting, Hypernatremia ORPHA:35710
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... OMIM:122860
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Preeclampsia
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... ORPHA:275555
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Liver Disease, Severe Congenital
Chronic gastritis, Abnormal left ventricular function, Leukopenia, Vomiting, Hypocalcemia, Lympho... OMIM:619991
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... OMIM:232700
Gitelman Syndrome
Respiratory distress, Salt craving, Maternal diabetes, Diarrhea, Insulin resistance, Hypermagnese... ORPHA:358
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Gout, Hypertension, Hyperuricemia, Hypotension OMIM:174000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia, Bronch... OMIM:150550
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia, Let... OMIM:605899
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Respiratory insufficiency, Respiratory failure, Tip-toe gait, Hypoc... ORPHA:746
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... ORPHA:99827
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Colitis, Recurrent fever, Lymphopenia, Thrombocytopenia OMIM:616744
Primary Myelofibrosis
Fever, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Thrombocytopenia, Leukocyt... ORPHA:824
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity, Normochromic anemia, C... ORPHA:91355
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Avian Influenza
Respiratory distress, Fever, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:454836
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Ma... ORPHA:466650
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia OMIM:615924
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Congenital Myopathy 22A, Classic
Waddling gait, Hip contracture, Thoracic scoliosis, Tricuspid regurgitation, Spinal rigidity, Kyp... OMIM:620351
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Acute Promyelocytic Leukemia
Fever, Pancytopenia, Epistaxis, Anorexia, Productive cough, Thrombocytopenia, Leukocytosis, Weigh... ORPHA:520
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic... OMIM:264700
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Short neck, Splenomegaly, Hypocalcemia, Hepatic failure, Hypoproteinemia OMIM:235255
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia, Dystonia OMIM:610329
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... ORPHA:136
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Failure to thrive, Ataxia, Recurrent hand flapping, Decreased circulating antibo... OMIM:617062
Pseudohypoparathyroidism Type 1B
Calcinosis, Dyspnea, Depression, Irritability, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypo... ORPHA:94089
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Failure to thrive, Anemia OMIM:616740
Aica-Ribosuria Due To Atic Deficiency
Hyponatremia, Hypoglycemia OMIM:608688
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Reticular Dysgenesis
Abnormality of neutrophils, Diarrhea, Weight loss, Decreased circulating antibody level, Leukopen... ORPHA:33355
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A... OMIM:300310
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Sneddon Syndrome
Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Atrophic scars, Ischemic stro... OMIM:182410
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Growth delay, D... OMIM:210900
East Syndrome
Salt craving, Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating r... ORPHA:199343
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Yellow Fever
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... ORPHA:99829
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Gout OMIM:162000
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Short neck, Postnatal growth retardation, Splenomegaly, Hepatosplenomegaly, Hypo... ORPHA:1655
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Ataxia, Apnea, Hypopnea, Hypok... OMIM:618426
Alexander Disease
Diabetes mellitus, Ataxia, Bowel incontinence, Hypothermia, Tremor, Chorea, Respiratory insuffici... ORPHA:58
Pseudo-Torch Syndrome 3
Apnea, Increased circulating ferritin concentration, Leukocytosis, Respiratory insufficiency, Rec... OMIM:618886
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Gaucher Disease, Type Iii
Pancytopenia, Ataxia, Splenomegaly, Depression, Decreased body weight, Thrombocytopenia OMIM:231000
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Increased susceptibility to fractures, Hypertension, Hyperuricemia, Abnormal... ORPHA:2769
Macrophage Activation Syndrome
Fever, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased cir... ORPHA:158061
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:615934
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Growth delay, Decreased circulating total IgM,... OMIM:612301
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Thrombocytopenia, Hyperammonemia, Vom... OMIM:251110
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Attention deficit hyperactivity disorder, F... OMIM:619151
Dubowitz Syndrome
Inguinal hernia, Hyperactivity, Aplastic anemia, Short stature, Sacral dimple, Postnatal growth r... OMIM:223370
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Nausea, Normochromic anemia ORPHA:95512
Transaldolase Deficiency
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Abnormal circulatin... ORPHA:101028
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, Chro... OMIM:615607
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Hypoglycemia, Neutropenia, Bronchiectasis, Hyperammonemia, Resp... OMIM:618253
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... ORPHA:3077
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia OMIM:613092
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Glycogen Storage Disease V
Hyperuricemia, Elevated circulating creatine kinase concentration OMIM:232600
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Hypoglycemia, Thrombocytopenia ORPHA:67048
Glycogen Storage Disease Ic
Spider hemangioma, Hyperlipidemia, Gout, Xanthelasma, Hypertension, Hyperuricemia, Delayed pubert... OMIM:232240
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Fever, Cough, Dyspnea, Diarrhea, Melena, Leukopenia, Vomiting, Dysph... ORPHA:319218
Genetic Recurrent Myoglobinuria
Fever, Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty... ORPHA:99845
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm... OMIM:608800
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Hematochezia, Hypoalbuminemia, Hypocalcem... OMIM:618183
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Absent P wave, Sudden cardiac death, First degree atrioventricular block, Elevated... OMIM:310300
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Dystonia, Ataxia, Apnea, Hypothermia, Dyspnea, Chorea, Low plasma citrulline, Episodic res... ORPHA:255210
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Hypothermia, Impaired... ORPHA:99027
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Hereditary Renal Hypouricemia
Back pain, Hypouricemia, Vomiting, Increased blood urea nitrogen, Nausea ORPHA:94088
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... ORPHA:85443
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Hypokalemia, Anemia OMIM:611489
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Vomiting, Increased mean platelet volume OMIM:300048
Blue Diaper Syndrome
Hypercalcemia, Diarrhea, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hyp... ORPHA:94086
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Hypothermia, Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Hyper... OMIM:618329
Mercury Poisoning
Respiratory distress, Anorexia, Tremor, Dyspnea, Hypokalemia, Respiratory failure, Interstitial p... ORPHA:330021
Deafness-Lymphedema-Leukemia Syndrome
Fever, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Respir... ORPHA:3226
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... OMIM:611490
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
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
D-Glyceric Aciduria
Tongue thrusting, Reduced hepatic D-glycerate kinase activity, Nonketotic hyperglycinemia, Growth... OMIM:220120
Takayasu Arteritis
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation ORPHA:3287
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Vomiting, Lethargy, Abnormal cir... ORPHA:470
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Failure to thrive OMIM:300200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Short ne... OMIM:619750
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Nephrogenic Diabetes Insipidus
Fever, Anorexia, Constipation, Hypernatremia, Polydipsia, Failure to thrive ORPHA:223
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Elevated hepatic transaminase, Jaundice, Decreased ... OMIM:301045
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Pseudohypoparathyroidism Type 1C
Calcinosis, Dyspnea, Obesity, Depression, Irritability, Hyperphosphatemia, Paresthesia, Hypocalce... ORPHA:79444
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis OMIM:126320
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Short stature, Recurrent fractures, Kyphoscoliosis, Dentinogenesi... OMIM:614856
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Lesch-Nyhan Syndrome
Short stature, Self-injurious behavior, Hyperuricemia, Dysphagia, Podagra OMIM:300322
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hyperactivity, Large for gestational age, Gait disturbance, Decreased circulating IgA level ORPHA:457485
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive, Hypocalcemia OMIM:602361
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Poems Syndrome
Sclerosis of hand bone, Thrombocytosis, Lipodystrophy, Sclerosis of foot bone, Weight loss, Scler... ORPHA:2905
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Pseudohypoparathyroidism Type 1A
Calcinosis, Dyspnea, Obesity, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Pares... ORPHA:79443
Tularemia
Respiratory distress, Brain abscess, Fever, Pneumonia, Thrombocytopenia, Leukocytosis, Cough, Ple... ORPHA:3392
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Respiratory distress, Pancytopenia, Tremor, Thrombocytopenia, Hyperammone... OMIM:251100
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Weight loss, Increased susceptibili... ORPHA:3337
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Respiratory insufficiency, Depression, Hypophosphatemia, Self-injuri... ORPHA:534
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Thrombocytopenia, Dysphagia OMIM:619751
Autosomal Recessive Malignant Osteopetrosis
Abnormality of temperature regulation, Apnea, Tremor, Splenomegaly, Hypocalcemia, Chronic rhiniti... ORPHA:667
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Rabin-Pappas Syndrome
Hyponatremia, Hypoventilation, Failure to thrive in infancy, Obesity, Tracheomalacia OMIM:620155
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperuricemia, Hyperammonemia OMIM:246450
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... ORPHA:91387
Oculoskeletodental Syndrome
Splenomegaly, Hypercalcemia, Small for gestational age, Hypocalcemia OMIM:618440
Activated Pi3K-Delta Syndrome
Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level, Arthritis, B... ORPHA:397596
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Idiopathic Chronic Eosinophilic Pneumonia
Fever, Elevated circulating C-reactive protein concentration, Crackles, Dyspnea, Nonproductive co... ORPHA:2902
Molybdenum Cofactor Deficiency, Complementation Group B
Growth delay, Molybdenum cofactor deficiency, Hypouricemia OMIM:252160
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Dyspnea, Increased circulating ferritin concentration, Hepatosplenomegaly, Restrictive ... ORPHA:210136
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Chronic constipation, Atte... OMIM:620211
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Failure to thrive, Gastro... ORPHA:79329
Hereditary Sensory And Autonomic Neuropathy Type 4
Impaired temperature sensation, Painless fractures due to injury, Recurrent aspiration pneumonia,... ORPHA:642
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un... OMIM:618493
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Neutropenia, Intracta... OMIM:617475
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form... ORPHA:628
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... ORPHA:77297
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Aregenerative Anemia
Fever, Pancytopenia, Abnormal proportion of CD8-positive T cells, Dyspnea, Erythroid hypoplasia, ... ORPHA:101096
Combined Oxidative Phosphorylation Defect Type 39
Abnormal circulating enzyme concentration or activity, Congenital foot contractures, Tip-toe gait... ORPHA:565624
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Diarrhea, L... ORPHA:98850
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Short stature, Decreased circulating IgA level, Decreased circulatin... ORPHA:1951
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small for gestational age, Hypoglycemia, Cough, Tachypnea, Respiratory insufficienc... OMIM:613658
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemi... OMIM:615751
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Mitochondrial Complex I Deficiency, Nuclear Type 37
Inguinal hernia, Growth delay, Bradycardia, Pulmonary arterial hypertension, Failure to thrive OMIM:619272
Atelis Syndrome 1
Thrombocytopenia, Bronchiectasis, Leukopenia, Attention deficit hyperactivity disorder, Anemia OMIM:620184
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity OMIM:612462
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia, Gout ORPHA:79233
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Osteootohepatoenteric Syndrome
Asthma, Secretory diarrhea, Weight loss, Hypokalemia, Increased serum bile acid concentration, Fa... OMIM:619377
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Drug-Induced Lupus Erythematosus
Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei... ORPHA:231111
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Waddling gait, Increased bone mineral density, Diaphyseal sc... OMIM:131300
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Diarrhea, Vestibular areflexia, Hy... ORPHA:3240
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Hypercalcemia, Infantile, 1
Hypercalcemia, Weight loss, Vomiting, Lethargy, Failure to thrive OMIM:143880
Chronic Myeloid Leukemia
Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ... ORPHA:521
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Respiratory distress, Apnea, Hypoglycemia, Hypothermia, Aggressive behavi... ORPHA:17
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Quotidian fever, Periodic fever OMIM:618795
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Familial Dysautonomia
Hyponatremia, Ataxia, Impaired pain sensation, Malignant hyperthermia, Gastroesophageal reflux, G... ORPHA:1764
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia ORPHA:557003
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... OMIM:208000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Cystinosis, Nephropathic
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Hypomag... OMIM:219800
Werner Syndrome
Increased bone mineral density, Lipodystrophy, Telangiectasia of the skin, Myocardial infarction,... ORPHA:902
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... ORPHA:1330
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Increased bone... ORPHA:355
Congenital Disorder Of Glycosylation, Type Iib
Thoracic scoliosis, Elevated circulating aspartate aminotransferase concentration, Recurrent frac... OMIM:606056
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic... ORPHA:289157
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Muscular Dystrophy, Duchenne Type
Waddling gait, Abnormal EKG, Elevated circulating creatine kinase concentration, Hyperlordosis, C... OMIM:310200
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Familial Hyperaldosteronism Type I
Epistaxis, Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Polydipsia, Nausea ORPHA:403
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dyspnea, Respir... OMIM:610505
Griscelli Syndrome
Fever, Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid c... ORPHA:381
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Monoclonal elevation of circulating I... ORPHA:91139
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Ataxia, Inappropriate laughter, Difficulty walking OMIM:618476
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Hypoglycemia, Aggressive behavior, Tremor, Dysmetria, Athetosis, ... OMIM:617710
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Athetosis, Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperal... ORPHA:369929
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Aicardi-Goutieres Syndrome 4
Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Dystonia, Thrombocytop... OMIM:610333
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia ORPHA:721
Autosomal Dominant Hypocalcemia
Writer's cramp, Depression, Hyperphosphatemia, Paresthesia, Hypocalcemia, Hypomagnesemia, Emotion... ORPHA:428
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Juvenile Huntington Disease
Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Irritability, Bradykine... ORPHA:248111
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Supraventricular ... ORPHA:97214
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Gait disturbance, Bradycardia, Dysphagia, Arrhythmia OMIM:609286
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Hypoalbuminemia... ORPHA:2298
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Gastroparesis, Inability to walk, Flexion contracture, Elbow flexion... ORPHA:70
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... OMIM:610377
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess... OMIM:301074
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Hypertriglyce... OMIM:619573
Amoebiasis Due To Entamoeba Histolytica
Fever, Intestinal obstruction, Liver abscess, Lung abscess, Dyspnea, Diarrhea, Leukocytosis, Prot... ORPHA:67
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Abnormality of the s... ORPHA:2162
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte co... ORPHA:79124
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Dec... OMIM:617006
Overlap Myositis
Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Difficulty wal... ORPHA:206572
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... ORPHA:2643
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Short neck, Wrist flexion contracture, Increa... ORPHA:800
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Mogs-Cdg
Thoracic scoliosis, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulati... ORPHA:79330
Encephalitis Lethargica
Stiff neck, Bowel incontinence, Increased circulating antibody level, Bradycardia, Lethargy ORPHA:83600
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting OMIM:618314
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Immunodeficiency 12
Short stature, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-... OMIM:615468
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Fever, Reticulocytosis, Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, ... OMIM:235400
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, A... OMIM:557000
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Gastroesophageal reflux, Abnormal pattern of respiration, Hypothermia ORPHA:168593
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Letterer-Siwe Disease
Fever, Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Irritability, Neutropenia, Stomatitis, Anemia OMIM:246400
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... OMIM:618986
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Congenital Toxoplasmosis
Thrombocytopenia, Diarrhea, Failure to thrive in infancy, Anemia ORPHA:858
Dysbetalipoproteinemia
Accelerated atherosclerosis, Type IV atherosclerotic lesion, Tendon xanthomatosis, Peripheral art... ORPHA:412
Liddle Syndrome
Hypokalemia, Constipation ORPHA:526
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Agi... ORPHA:276556
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Limb dystonia, Methemoglobinemia, Exertional dyspnea ORPHA:621
Nathalie Syndrome
Growth delay, Abnormal EKG OMIM:255990
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Fever, Tremor, Schistocytosis, Elevated circulating creati... OMIM:274150
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Syndromic Diarrhea
Gastritis, Small for gestational age, Increased mean platelet volume, Splenomegaly, Bloody diarrh... ORPHA:84064
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Lead Poisoning
Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Small for gestational age, ... ORPHA:330015
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopathy, Scoliosis, ... ORPHA:1177
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tachypnea, Hypothermia OMIM:616501
Acquired Partial Lipodystrophy
Insulin resistance, Lymphocytosis ORPHA:79087
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Cons... ORPHA:90673
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Sinusitis, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent fev... OMIM:617591
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology, Neonatal death OMIM:611890
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Beta-Thalassemia Major
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231214
Pediatric-Onset Graves Disease
Hyperactivity, Tremor, Neonatal asphyxia, Diarrhea, Splenomegaly, Neutropenia in presence of anti... ORPHA:525731
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Lambert Syndrome
Inguinal hernia, Failure to thrive in infancy, Jaundice, Decreased circulating antibody level, In... ORPHA:1296
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T c... ORPHA:66628
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive megaloblastic anemia, Gastro... OMIM:249270
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Hyperlordosis, Overweight, Generalized ... ORPHA:763
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Eosinophilic infiltration of the esop... OMIM:243700
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia ORPHA:158014
Gitelman Syndrome
Salt craving, Ataxia, Hypokalemia, Increased circulating renin level, Vomiting, Constipation, Hyp... OMIM:263800
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, E... ORPHA:2785
Bone Marrow Failure Syndrome 4
Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow ... OMIM:618116
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Osteolysis, Increased suscept... ORPHA:77261
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hyperactivity, Ataxia, Elevated circulating creatine kinase c... OMIM:615673
Paternal Uniparental Disomy Of Chromosome 1
Pain insensitivity, Hypercalcemia, Obesity, Increased blood urea nitrogen, Episodic hemolytic ane... ORPHA:251004
Adrenocortical Carcinoma
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... ORPHA:1501
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Hypertriglyceri... ORPHA:540
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T c... ORPHA:179494
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... ORPHA:563
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... OMIM:277380
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Cerebral hemorrhage, Bradycardia, Lethargy, Thrombocytopenia OMIM:617397
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Vomiting, Increased circulating renin level, Abnor... OMIM:241150
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Diarrhea, T l... ORPHA:83471
Hyperuricemia, Hprt-Related
Podagra, Hyperuricemia OMIM:300323
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Vipoma
Diabetes mellitus, Hypercalcemia, Anorexia, Respiratory insufficiency due to muscle weakness, Sec... ORPHA:97282
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Frequent temper ... OMIM:620141
Familial Hyperaldosteronism Type Iii
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-supp... ORPHA:251274
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Phosphoribosylpyrophosphate Synthetase Superactivity
Small for gestational age, Short stature, Hyperuricemia, Gout OMIM:300661
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Ataxia, Portal hypertension, R... OMIM:615688
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Decreased circulating antibody level, Gait disturbance, Scoliosis ORPHA:85317
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Large for gestational age, Decreased circulating free fat... ORPHA:324575
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Jaw claudication, Weight loss, Syncope, Bradycardia ORPHA:221098
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... ORPHA:168558
Juvenile Polyposis Syndrome
Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia OMIM:174900
Isovaleric Acidemia
Pancytopenia, Leukopenia, Vomiting, Lethargy, Thrombocytopenia OMIM:243500
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... OMIM:616098
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Respiratory paralysis, Mildly elevated creatine... ORPHA:681
Hypercholesterolemia, Familial, 1
Tendon xanthomatosis, Coronary artery atherosclerosis OMIM:143890
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis OMIM:610947
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification... ORPHA:163649
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Agi... ORPHA:276575
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, Ileus, Coombs-posi... OMIM:304790
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Abnormal circulating cholestero... ORPHA:289548
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Gastroesophageal reflux, Fa... ORPHA:90045
Sarcoidosis
Fever, Hemolytic anemia, Hypercalcemia, Eosinophilia, Hypothermia, Dyspnea, Increased T cell coun... ORPHA:797
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Recurrent apht... OMIM:611762
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Fever, Neutrophilia, Eosinophilia, Splenomegaly, Diarr... ORPHA:98849
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nonprogressive cerebellar ataxia ORPHA:3327
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
High Altitude Pulmonary Edema
Fever, Orthopnea, Anorexia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Failure to thrive, Vomiting OMIM:602722
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... ORPHA:33364
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypoventilation, Gastrointestinal hemorrhage, Spontaneous pneumothorax, Hyperspleni... ORPHA:731
Wilson Disease
Aggressive behavior, Hypersexuality, Thrombocytopenia, Splenomegaly, Increased body weight, Depre... ORPHA:905
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons, Neonatal death OMIM:253310
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Small for gestational age, Respiratory failure, Vomiting, Failure to thrive OMIM:618252
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperammonemia, Irritability, Vomiting, Lethargy, Thrombocytopenia, Hyperventilation OMIM:253270
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Chronic constipation, Gastroesophageal reflux, Failure to thrive, Thrombocytop... OMIM:616577
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Short stature, Elevated circulating creat... OMIM:255160
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Insulin resistance, Hyperinsulinemia, Gait a... ORPHA:363400
Genetic Transient Congenital Hypothyroidism
Lethargy, Constipation, Increased circulating thyroglobulin level, Hypothermia ORPHA:226316
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Transient ischemic ... ORPHA:2929
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Gr... OMIM:614653
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Hypocalcemic Vitamin D-Resistant Rickets
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Tangier Disease
Hypertriglyceridemia, Impaired temperature sensation, Thrombocytopenia, Hepatosplenomegaly, Hypoc... ORPHA:31150
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Ab... ORPHA:1782
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Autosomal Agammaglobulinemia
Osteomyelitis, Diarrhea, Neutropenia, Hepatitis, Agammaglobulinemia, Arthritis, Cellulitis, Failu... ORPHA:33110
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Short stature, Telangiectases of the cheeks OMIM:615139
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... OMIM:254900
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Short stature, Increased circulating IgA level, Neutropenia, Intrauterine growth ret... OMIM:616395
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres... OMIM:261600
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricemia, Gout ORPHA:411543
Gamma-Heavy Chain Disease
Fever, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, ... ORPHA:100026
Galactokinase Deficiency
Small for gestational age, Hypoglycemia, Neonatal asphyxia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Perianal abscess, Peritonitis, Periodic fever, Enterocolitis, Recu... ORPHA:2686
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Tangier Disease
Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Coronary artery atherosclerosis... OMIM:205400
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Orthostatic Hypotension 1
Hypomagnesemia, Intermittent hypothermia, Neonatal hypoglycemia, Increased blood urea nitrogen OMIM:223360
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Infantile Neuroaxonal Dystrophy
Hyperactivity, Dystonia, Ataxia, Impulsivity, Unsteady gait, Apneic episodes in infancy, Gait dis... ORPHA:35069
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Chronic constipation, Attention deficit ... ORPHA:476126
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Isotretinoin-Like Syndrome
Lymphopenia, Gastroesophageal reflux, Hypocalcemia ORPHA:2306
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis, Hyperuricemia ORPHA:411536
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Respiratory insufficiency, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Primary Familial Polycythemia
Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... OMIM:243150
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Diabetes mellitus, Dyspnea, Diarrhea, Thrombocytopenia,... ORPHA:169105
Classic Galactosemia
Dystonia, Ataxia, Postural tremor, Hypoglycemia, Abnormal erythrocyte enzyme level, Diarrhea, Dep... ORPHA:79239
Rett Syndrome
Short stature, Cachexia, Kyphosis, Gait apraxia, Bruxism, Gait ataxia, Constipation, Gastroesopha... OMIM:312750
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Ataxia, Increased circulating IgA level, Dia... ORPHA:343
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Double Outlet Right Ventricle
Failure to thrive, Tachypnea, Hypocalcemia ORPHA:3426
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia OMIM:603585
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Diarrhea, Elevated circulating creatinine concentration, Hypoalbuminemia, Vomit... OMIM:608104
Boutonneuse Fever
Fever, Diarrhea, Leukopenia, Respiratory failure, Nausea, Thrombocytopenia ORPHA:83313
Cartilage-Hair Hypoplasia
Respiratory insufficiency, Hypocalcemia, Neutropenia, Failure to thrive, Anemia ORPHA:175
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism OMIM:605635
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Asthma, Giant platele... ORPHA:274
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Familial Hyperaldosteronism Type Ii
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-supp... ORPHA:404
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Short stature, Decreased circulating antibody level, Gait disturbance, ... ORPHA:1445
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Small for gestational age, Episodic tachypnea, Hypoglycemia, Episodic v... OMIM:615160
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Immunodeficiency 40
Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pn... OMIM:616433
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Diarrhea, Increased circulating IgG... OMIM:618495
Adamantinoma
Hypercalcemia ORPHA:55881
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Shwachman-Diamond Syndrome 1
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Small ... OMIM:260400
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Weight loss OMIM:613239
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Dysphagia, Thrombo... OMIM:222300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Lethargy, Hypertrophic ... ORPHA:276580
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... ORPHA:186
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Short stature, Small for gestational age, Postnatal growth retardation, Osteoporos... ORPHA:73272
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Severe short stature, Cachexia, Postnatal growth retardation... ORPHA:191
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Short neck, Overweight, Delayed proximal femoral epiphyseal ossification, Gro... ORPHA:226307
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... ORPHA:90065
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumon... OMIM:616576
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Pancytopenia, Impaired T cell function, Elevated circulating creat... OMIM:614576
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Decreased ci... OMIM:617638
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin level, ... OMIM:612780
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Broad-based gait, Exaggerated startle response, Apnea, Dystonia, Decreased serum... ORPHA:438213
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal vertebral morphology OMIM:618709
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Dysmet... ORPHA:217260
Glycogen Storage Disease Due To Aldolase A Deficiency
Fever, Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia ORPHA:57
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Severe short stature, Hyperlordosis, Aortic valve stenosis, Osteo... ORPHA:2780
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Ataxia, Congestive heart failure, Osteolysis, Weig... ORPHA:35687
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Liver abscess, Decreased circulating total IgM, Arthritis, Rh... ORPHA:183675
Glucagonoma
Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Hypercalcemia, Anorexia, ... ORPHA:97280
Graft Versus Host Disease
Fasciitis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Stif... ORPHA:39812
Leptospirosis
Pericarditis, First degree atrioventricular block, Anorexia, Diarrhea, Jaundice, Retinal hemorrha... ORPHA:509
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopet... OMIM:612840
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive, Hyperuricemia, Hypomagnesemia OMIM:248250
Apparent Mineralocorticoid Excess
Hypokalemia, Abnormality of circulating cortisol level, Polydipsia, Failure to thrive, Decreased ... ORPHA:320
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Thrombocytopenia, Dysphagia OMIM:615750
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydipsia, Nausea... ORPHA:231580
Non-Functioning Paraganglioma
Tremor, Hypercalcemia, Nausea, Weight loss ORPHA:94080
Medullary cystic kidney disease 2
Hyperuricemia, Gout OMIM:603860
Oncogenic Osteomalacia
Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Stt3B-Cdg
Respiratory distress, Failure to thrive, Thrombocytopenia ORPHA:370924
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Vomiting, Cough, Nausea, Leukocytosis, Elevated circulating creatinine conc... ORPHA:340
Mepan Syndrome
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Dysphagi... ORPHA:508093
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Atrioventricular canal defect, ... OMIM:618300
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
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
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Constipation, High nonceruloplasmin-bound serum coppe... ORPHA:457351
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Thrombocytopenia OMIM:615597
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Kyphoscoliosis, Disproportionate short stature, Decreased circulating antibody leve... OMIM:617425
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Ataxia, Increased mean platelet volume OMIM:616737
Aicardi-Goutieres Syndrome 5
Irritability, Thrombocytopenia OMIM:612952
Familial Cold Autoinflammatory Syndrome 1
Fever, Leukocytosis, Recurrent fever, Elevated circulating C-reactive protein concentration OMIM:120100
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... ORPHA:324964
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Tendon xanthomatosis, Pe... ORPHA:391665
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Increased circulat... ORPHA:231625
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fever, Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia... OMIM:300908
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Neonatal hypoglycemia, Tremor, Recurrent pneumonia, Neutropenia, Op... OMIM:616271
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Choreoathetosis, Increased circulating IgG level,... ORPHA:206594
Apparent Mineralocorticoid Excess
Hypokalemia, Failure to thrive, Small for gestational age, Decreased circulating renin level OMIM:218030
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Failure to thrive in infancy, Anemia OMIM:611209
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Postinfectious Vasculitis
Cerebral vasculitis, Abnormal circulating protein concentration, Viral hepatitis, Elevated circul... ORPHA:48435
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking... OMIM:600430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... OMIM:600142
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ... ORPHA:228360
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Pain insensitivity, Aggressive behavior, Hair-pulling, Asthma, Rec... OMIM:620330
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Somatostatinoma
Gastrointestinal hemorrhage, Intestinal obstruction, Diabetes mellitus, Hypercalcemia, Anorexia, ... ORPHA:97283
Sanjad-Sakati Syndrome
Intestinal obstruction, Hyperphosphatemia, Hypocalcemia ORPHA:2323
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Angiostrongyliasis
Projectile vomiting, Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased ci... ORPHA:74
Muckle-Wells Syndrome
Leukocytosis, Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentratio... OMIM:191900
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Limited elbow movement, Hyperlo... ORPHA:268
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bowel incontinence, Splenomegaly, Asthm... ORPHA:567
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Dystonia, Postural tremor, Chorea, Impaired propriocepti... ORPHA:98755
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... ORPHA:447
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia OMIM:274240
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Short stature, Osteopetrosis, Decreased body weight OMIM:617306
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Hy... ORPHA:811
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Acute Radiation Syndrome
Fever, Diarrhea, Interstitial pneumonitis, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Macrocephaly/Autism Syndrome
Joint laxity, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Decreased proportion of... ORPHA:1830
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE l... OMIM:602450
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Hyperamylasemia OMIM:604278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Cystinuria
Hyperuricemia ORPHA:214
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count OMIM:612260
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Fever, Abnormality of the spleen, Wheezing, Diarrhea, Vomiting, Lymp... ORPHA:79456
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Short stature, Postnatal growth retardation, Decreased body weight, In... OMIM:608747
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Distal Renal Tubular Acidosis
Hemolytic anemia, Respiratory insufficiency due to muscle weakness, Diarrhea, Hypokalemia, Vomiti... ORPHA:18
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Anorexia, Leukocytosis, Impaired tactile sensation, Allodynia, Hyper... ORPHA:51890
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den... OMIM:214500
Krabbe Disease
Abnormal flash visual evoked potentials, Autoimmune thrombocytopenia, Vomiting, Failure to thrive... OMIM:245200
Hereditary Fructose Intolerance
Reduced circulating aldolase concentration, Diarrhea, Jaundice, Hypermagnesemia, Growth delay, Vo... ORPHA:469
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Flexion contracture, Transient hypogammaglobulinemia of infancy, Scoliosis OMIM:251240
Hennekam Syndrome
Splenomegaly, Respiratory insufficiency, Chylothorax, Hypocalcemia, Lymphopenia ORPHA:2136
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Acute hepatic failure, E... ORPHA:71212
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Vomiting, Hypercalcemia OMIM:239199
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentration, He... ORPHA:542323
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocytopenia, Bone m... OMIM:301078
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Inability to walk, Asthma, Respiratory insufficiency, Abnormal circulating lipid con... ORPHA:488632
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Ataxia, Abscess, Eosinophilia, Increased circulating IgE lev... OMIM:615816
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity, Emotion... OMIM:219090
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea... ORPHA:99901
Sengers Syndrome
Pulmonary arterial hypertension, Thrombocytopenia, Respiratory insufficiency OMIM:212350
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Diarrhea, Thrombocytopenia, Splenome... OMIM:222700
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Andersen-Tawil Syndrome
Prolonged QT interval, Joint laxity, Short stature, Bidirectional ventricular ectopy, Polymorphic... ORPHA:37553
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Late-Infantile/Juvenile Krabbe Disease
Ataxia, Tremor, Neuromuscular dysphagia, Impaired tactile sensation, Irritability, Gait disturban... ORPHA:206443
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Familial Partial Lipodystrophy, Köbberling Type
Coronary artery atherosclerosis ORPHA:79084
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Malignant Hyperthermia, Susceptibility To, 2
Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ... OMIM:154275
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Leukopeni... ORPHA:1304
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia,... OMIM:229600
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbum... ORPHA:64743
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myopathy, Coronary artery... ORPHA:2348
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... OMIM:607634
Smith-Lemli-Opitz Syndrome
Hyperactivity, Sacral dimple, Short stature, Aggressive behavior, Splenomegaly, Self-mutilation, ... OMIM:270400
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss, Increased circulating cortisol level, Abnormal breath sound, Cough ORPHA:97289
12Q14 Microdeletion Syndrome
Short stature, Abnormality of the spleen, Osteopoikilosis, Scoliosis, Intrauterine growth retarda... ORPHA:94063
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Athetosis, Hypokalemia, Primary hyperaldosteronism, Pulmonary arterial hypertension, Decreased ci... OMIM:615474
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax... OMIM:617101
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Thoracic kyphosis, Hernia, Decrease... ORPHA:505248
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Respiratory failure requiring assisted ventilation, Hype... ORPHA:77293
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Tachycardia, Large for gestational age, Abnormal circulating fatty... ORPHA:263455
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Lig4 Syndrome
Pancytopenia, Small for gestational age, Asthma, Acute lymphoblastic leukemia, Type II diabetes m... OMIM:606593
Malignant Hyperthermia, Susceptibility To, 3
Fever, Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, ... OMIM:154276
Aorta Coarctation
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... ORPHA:1457
Acute Liver Failure
Gastrointestinal hemorrhage, Fever, Pain insensitivity, Ataxia, Hypoglycemia, Abnormal pattern of... ORPHA:90062
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Diarrhea, Tachypnea, Leukocytosis, Respiratory i... OMIM:618278
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Igg4-Related Aortitis
Low back pain, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Inc... ORPHA:449400
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... ORPHA:75566
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Hypokalemia, Decreased circulating renin level OMIM:613677
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Vici Syndrome
Lymphopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Postnatal gro... OMIM:242840
Felty Syndrome
Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Weight loss, Rhinitis, Neutropeni... ORPHA:47612
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Nausea, Decreased ... ORPHA:231632
Optic Atrophy 11
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocki... OMIM:617302
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Dysphagia, Focal dystonia, Shuffling g... ORPHA:52368
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Telangiectasia of t... ORPHA:79474
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia, Exertional dyspnea OMIM:250800
Omenn Syndrome
Fever, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, ... ORPHA:39041
Desmosterolosis
Increased bone mineral density, Severe short stature, Splenomegaly, Growth delay, Osteopetrosis, ... ORPHA:35107
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... ORPHA:85188
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Ileus, Athe... ORPHA:52503
Dysostosis, Stanescu Type
Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Short neck, Hyp... ORPHA:1798
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Asplenia, Thr... OMIM:185070
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Hyperhomocystinemia, Cys... OMIM:277400
Ciliary Dyskinesia, Primary, 14
Situs inversus totalis, Heterotaxy OMIM:613807
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Protracted diarrhea, Agammaglobulinemia, Colitis, Neutropenia, Cutaneous anergy,... OMIM:209920
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di... OMIM:617600
Scorpion Envenomation
Fever, Restlessness, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Diarrhea, Tac... ORPHA:466677
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Glycosuria, Hypokalemia, Vomiting, Constipation, Hypophosphatem... ORPHA:411629
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb dystonia, Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Dysmetria, Athetosis, ... ORPHA:572798
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... OMIM:601399
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hypothermia, Stridor, Constipation, Hyperbilirubinemia... OMIM:218700
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia, Type I diabetes mellitus ORPHA:290
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Tufted Angioma
Anemia, Paresthesia, Thrombocytopenia ORPHA:1063
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... ORPHA:3342
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia, Heat intolerance ORPHA:284426
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Lipodystrophy, Familial Partial, Type 1
Prominent superficial veins, Coronary artery atherosclerosis OMIM:608600
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Pediatric Systemic Lupus Erythematosus
Fever, Dyspnea, Diarrhea, Leukopenia, Vomiting, Microangiopathic hemolytic anemia, Pleural effusi... ORPHA:93552
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu... ORPHA:2637
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea... OMIM:616084
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Bowel incontinence, Cachexia, Respiratory insufficiency, Ch... ORPHA:702
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Type I diabetes mellitus, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Neonatal respiratory distress, Impaired pain sensation, Chron... OMIM:619005
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Digeorge Syndrome
Thrombocytopenia, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Obesity, Splenomega... OMIM:188400
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Inability to walk, Thrombocytopenia, Recurrent pneumonia, Splenomegaly, Leu... OMIM:617303
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Recurrent fever, Elevated circulating C-reactive protein con... OMIM:301054
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Fever, Abnormality of neutrophils, Dyspnea, Diarrhea, Thrombocytopen... ORPHA:36426
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Ataxia, Anemia, Failure to thrive, Thrombocytopenia ORPHA:3322
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Intrauterine growth retardation, Decreased circulating antibody level OMIM:616910
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Colitis, Vomiting, Cough, Neutrophilia, Leukocytosis, C... ORPHA:3260
Velocardiofacial Syndrome
Emotional lability, Hypocalcemia, Aggressive behavior OMIM:192430
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Constipatio... OMIM:619743
Bohring-Opitz Syndrome
Short stature, Inability to walk, Limitation of joint mobility, Bilateral wrist flexion contractu... ORPHA:97297
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Riddle Syndrome
Decreased circulating IgG level, Ataxia, Short stature OMIM:611943
Prolidase Deficiency
Chronic lung disease, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Failure to thr... OMIM:170100
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Kikuchi-Fujimoto Disease
Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Thrombocytopenia, Spleno... ORPHA:50918
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Obesity, Weight loss, Con... ORPHA:79102
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Adult-Onset Still Disease
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy... ORPHA:829
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neutropenia, Growth delay, Bradycardia, Dysphagia, Failure to thrive OMIM:617248
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614520
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Osteoporosis, Abnormal blood ion concentration, Gastrointestinal inflamma... ORPHA:79404
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Craniosynostosis, Hyperlipidemia, Obesity, Self-injurious be... ORPHA:254346
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Ischemic stroke, Coronary artery atherosclerosis, Moyamoya phenomenon ORPHA:280679
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Joint hyperflexibility, Polydipsia, Hyperuricemia, Arthritis ORPHA:93111
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lym... OMIM:601495
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Splenomegaly, Dysphagia, Stridor, Gastroesophageal reflux, Cough, Failur... OMIM:230900
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Thrombocytopenia, Asthma, Splenomegaly, Hepatosplenomega... OMIM:606003
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Ataxia, Elevated circulating ... ORPHA:480864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Heart block, Raynaud phenomeno... ORPHA:416
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Lymphopenia OMIM:617575
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Chronic diarrhea, Dysphagia, Decreased circ... OMIM:618131
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral regurgitatio... OMIM:261990
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Dispropor... OMIM:224300
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Undetectable... ORPHA:423479
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... OMIM:187900
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Flexion contracture, Interphalangeal thumb joint contracture, Hypertension, Agitation OMIM:613870
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent fever, Thrombocytopenia OMIM:612783
Rabson-Mendenhall Syndrome
Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe... ORPHA:769
Pseudoxanthoma Elasticum
Vascular dilatation, Arterial stenosis, Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:758
Castleman Disease
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Dyspnea, Thrombocy... ORPHA:160
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Spider hemangioma, S... ORPHA:2137
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten... OMIM:617052
Graves Disease, Susceptibility To, 1
Congestive heart failure, Hyperactivity, Polyphagia, Weight loss OMIM:275000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Broad-based gait, Neonatal respiratory distress, Apnea, Impulsivity, Hypomagnes... OMIM:619503
Aicardi-Goutieres Syndrome 7
Fever, Hemolytic anemia, Atrophic gastritis, Pancytopenia, Pneumonia, Hematemesis, Increased circ... OMIM:615846
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia OMIM:614227
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Neutropenia, Anemia ORPHA:88
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Generalized joint laxity, Increased circulating IgG level... OMIM:619472
Aicardi-Goutieres Syndrome 1
Fever, Splenomegaly, Inability to walk, Dystonia, Self-mutilation, Thrombocytopenia OMIM:225750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Hypernatremia, Hypoalbuminemia, Eosinophilic infiltration of the esophagus OMIM:615508
Kaufman Oculocerebrofacial Syndrome
Short stature, Ovoid vertebral bodies, Constipation, Hypocholesterolemia, Failure to thrive OMIM:244450
Helix Syndrome
Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia, Heat intolerance OMIM:617671
Icf Syndrome
Short stature, Abnormality of neutrophils, Decreased circulating antibody level, Umbilical hernia... ORPHA:2268
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Ataxia, Elevated circulating creatine kinase concentrati... ORPHA:1933
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Thymoma
Fever, Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Ulcerati... ORPHA:99867
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Dystonia, Failure to thrive in infancy, Hyperkalemia, Limb ataxia,... OMIM:617595
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Failure to thrive, Right ventricular failure, Thi... ORPHA:1329
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... OMIM:615952
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Eosinophilia, Dyspnea, Weight loss, Interstitial pneumonitis, Lymphocytosis, Cough ORPHA:139402
Fanconi Renotubular Syndrome 1
Glycosuria, Hypokalemia, Hypophosphatemia OMIM:134600
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis OMIM:209010
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Dysmetria,... ORPHA:904
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... OMIM:618397
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia, Obesity OMIM:103580
Igg4-Related Thyroid Disease
Hypocalcemia, Dysphagia ORPHA:64744
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Splenomegaly, Hyperka... OMIM:608885
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia ORPHA:3002
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Dysmetria, Dysdiadochokinesis, Gait disturbance, Dystonia, Abn... ORPHA:96
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulating antibody l... OMIM:615122
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar... OMIM:615190
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Thrombocytopenia, Splenomegaly, Dysphagia, Opisthotonus, H... OMIM:608013
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Webb-Dattani Syndrome
Hypernatremia, Gastroesophageal reflux, Obesity OMIM:615926
Familial Thrombocytosis
Miscarriage, Peripheral arterial stenosis, Transient ischemic attack ORPHA:71493
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Chronic diarrhea, Leukopenia, Neutropenia, Failure to thrive, Thro... OMIM:613989
Monosomy 13Q34
Epistaxis, Hypercalcemia, Insulin resistance, Obesity, Hematochezia ORPHA:96168
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increas... OMIM:127550
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Platyspondyly, Delayed ossification... OMIM:271510
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Renal art... ORPHA:565612
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia... OMIM:612561
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Neutropenia, Steatorrhea, Failure to thrive, Thrombocytopenia, Exocr... OMIM:617941
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Abnormal amplitude of flash visual... ORPHA:168491
Tick-Borne Encephalitis
Somatic sensory dysfunction, Elevated circulating C-reactive protein concentration, Anorexia, Tre... ORPHA:297
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density, Periapical tooth a... ORPHA:3352
Menkes Disease
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Arterial stenosis, In... ORPHA:565
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Mannosidosis, Alpha B, Lysosomal
Inguinal hernia, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Limb ataxia, G... OMIM:248500
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Deeah Syndrome
Decreased hemoglobin concentration, Neonatal respiratory distress, Abnormality of temperature reg... OMIM:619004
Atelis Syndrome 2
Dyspnea, Thrombocytopenia, Hyperinsulinemia, Dysmetria, Gastroesophageal reflux, Attention defici... OMIM:620185
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Fever, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retardation OMIM:618541
Raine Syndrome
Increased bone mineral density, Short stature, Short neck, Subperiosteal bone formation, Elevated... OMIM:259775
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Pulmonary arteri... OMIM:230800
Renpenning Syndrome
Heterotaxy ORPHA:3242
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor OMIM:609153
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... ORPHA:98794
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... OMIM:145600
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Dysphagia, L... ORPHA:94125
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Apnea, Hypoglycemia, Opisthotonus, Vomiting, Lethargy, Failure to thrive OMIM:210200
Zika Virus Disease
Fever, Vomiting, Thrombocytopenia ORPHA:448237
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia ORPHA:73224
Meacham Syndrome
Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Partial anomalous... OMIM:608978
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Enteroviral hepatitis, Diarrhea, Absent circulating B cells, Delayed puberty, Sept... OMIM:307200
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Desmosterolosis
Failure to thrive, Rhizomelia, Generalized osteosclerosis, Abnormal circulating cholesterol conce... OMIM:602398
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia, Vomiting, Methemoglobinemia ORPHA:464453
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Ataxia, Leukopenia, Decreased DLCO, Thrombocytopenia OMIM:613990
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia OMIM:208085
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, Elevated circulating creatine kinase concentration, Thromb... OMIM:301056
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex ORPHA:85184
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Limb dystonia, ... ORPHA:2388
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Dyspnea, Asthma, Chronic diarrhea, Wheezing, Bronchiectasis, Leukocytosis, Chronic coug... OMIM:620233
Psoriasis 14, Pustular
Fever, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr... OMIM:259900
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Chronic diarrhea, Diar... OMIM:260920
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Failure to thrive in infancy, Thrombocytopenia, Tongue thrusting, Self-injurious b... ORPHA:261323
Infantile Krabbe Disease
Respiratory distress, Cachexia, Opisthotonus, Irritability, Respiratory failure, Vomiting, Gastro... ORPHA:206436
Hypomagnesemia 2, Renal
Hypokalemia, Hypomagnesemia OMIM:154020
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventri... ORPHA:70591
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology OMIM:615709
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Short stature, Craniosynostosis, Transient hypogammaglobulinemia of infa... ORPHA:3132
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Respiratory distress, Thrombocytopenia, Neutropenia, Dysphagia, Weig... ORPHA:537
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Infantile Myofibromatosis
Intestinal obstruction, Hypercalcemia ORPHA:2591
Renal Tubular Acidosis Iii
Hypokalemia OMIM:267200
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Immunodeficiency Due To Crac Channel Dysfunction
Fever, Hemolytic anemia, Pneumonia, Splenomegaly, Thrombocytopenia ORPHA:169090
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Premature coronary artery atherosclerosis ORPHA:140905
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Camurati-Engelmann Disease
Waddling gait, Ataxia, Cachexia, Anorexia, Hyperlordosis, Splenomegaly, Abnormal subcutaneous fat... ORPHA:1328
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia, Nausea, Weight loss ORPHA:276621
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Q Fever
Respiratory distress, Fever, Pneumonia, Anorexia, Thrombocytopenia, Splenomegaly, Weight loss, He... ORPHA:781
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Elevated circulating alanine amin... OMIM:613070
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... ORPHA:264675
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus OMIM:616113
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Isomerism, Transposition of the great arteries, Atrioventricular can... OMIM:314390
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures ORPHA:93325
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Epistaxis, Thrombocytopenia OMIM:619463
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Otopalatodigital Syndrome Type 2
Omphalocele, Carpal synostosis, Increased bone mineral density, Camptodactyly of finger, Tarsal s... ORPHA:90652
Vici Syndrome
Short stature, Joint stiffness, Decreased circulating IgG2 level, Cardiomyopathy, Decreased circu... ORPHA:1493
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Impaired ADP-induced platelet ... OMIM:608233
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Fever, Hematemesis, Bloody diarrhea, Hematochezia, Melena, Hyperbili... ORPHA:464321
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Farber Disease
Respiratory distress, Thrombocytopenia, Chronic diarrhea, Respiratory insufficiency, Hepatospleno... ORPHA:333
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Hyperactivity, Aggressive behavior, Hypertension, Self-injurious behavior, Abnormal... ORPHA:449291
Pycnodysostosis
Increased bone mineral density, Short stature, Spondylolysis, Osteolytic defects of the distal ph... OMIM:265800
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Hyperactivity, Joint stiffness, Asymmetric septal hypertrophy, Umbilical hernia,... OMIM:252900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Craniosynostosis, Decreased circulating antibody level, Growth delay, Atrophic scars, H... ORPHA:79396
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Precocious atherosclerosis, Proximal upper limb muscle hypertrophy, ... ORPHA:280365
Xq12-Q13.3 Duplication Syndrome
Elevated circulating creatine kinase concentration, Impaired pain sensation, Bulimia, Agitation, ... ORPHA:314389
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Hypoglycemic seizures, Self-injurious... OMIM:616364
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Tachycardia, Abnormal repetitive mannerisms, Hypot... ORPHA:79155
Friedreich Ataxia
Abnormal EKG, Ataxia, Congestive heart failure, Decreased pyruvate carboxylase activity, Limb ata... OMIM:229300
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Short stature, Flexion contracture, Absence of... OMIM:601675
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... ORPHA:2658
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia, Gout OMIM:137920
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Patent ductus arteriosus, Coronary artery atherosclerosis, Knee flexion ... ORPHA:435638
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Thrombocytosis, Pure red cell aplasia, Erythro... ORPHA:124
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Caroli Syndrome
Fever, Liver abscess, Conjugated hyperbilirubinemia, Hematemesis, Leukocytosis, Hypersplenism, Me... ORPHA:480520
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Tachycardia, Short stature, Elevated circulating creatine kinase c... OMIM:614921
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Diarrhea, Peri... OMIM:249100
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level, Ulcerativ... ORPHA:555905
Ppoma
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Anorexia, Diarrhea, Weight lo... ORPHA:97278
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Decreased circulating antibody level ORPHA:99811
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... OMIM:619657
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Left Isomerism, Situs inversus totalis, Patent foramen o... OMIM:619702
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Pseudo-Torch Syndrome 1
Splenomegaly, Failure to thrive, Thrombocytopenia, Dystonia OMIM:251290
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Coronary artery atherosclerosis OMIM:618620
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
3Q29 Microdeletion Syndrome
Aggressive behavior, Joint hyperflexibility, Gastroesophageal reflux, Gait disturbance, Attention... ORPHA:65286
Leprechaunism
Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldosteronism, Increased circulating reni... ORPHA:508
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Failure to thrive, Gait disturbance, Respiratory insuffi... ORPHA:2971
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Pulmonary arterial hypertension, Failure to thrive, Thro... ORPHA:974
Charcot-Marie-Tooth Disease, Type 4D
Impaired distal proprioception, Impaired distal vibration sensation, Unsteady gait, Distal sensor... OMIM:601455
Immunodeficiency 56
Failure to thrive, Chronic diarrhea, Chronic hepatitis due to cryptosporidium infection, Hepatic ... OMIM:615207
Glycogen Storage Disease Ixc
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Quebec Platelet Disorder
Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Cockayne Syndrome Type 1
Increased blood urea nitrogen ORPHA:90321
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Chorea, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, ... ORPHA:464343
Fibrous Dysplasia Of Bone
Antalgic gait, Diabetes mellitus, Hypercalcemia, Increased circulating cortisol level, Paresthesi... ORPHA:249
Hyperthyroidism, Nonautoimmune
Small for gestational age, Tachycardia, Hyperactivity, Increased circulating thyroglobulin level OMIM:609152
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Short stature, Dysgammag... OMIM:251260
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE ... OMIM:256500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Inguinal hernia, Reduced bone mineral density, Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Vitamin D-Dependent Rickets, Type 2A
Irritability, Difficulty walking, Hypophosphatemia, Failure to thrive, Hypocalcemic seizures OMIM:277440
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Small for gestational age, Scarring, Ataxia, Abnormal isohemagglutinin level, Micro... ORPHA:99843
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Increased circulating corticosterone level, Hypokalemia, Fa... ORPHA:90793
Kaposiform Lymphangiomatosis
Fever, Epistaxis, Dyspnea, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnormal spleen mo... ORPHA:464329
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Dys... ORPHA:309246
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating cortisol level, Small for gestational age, Hypoglycemia, Hype... OMIM:201750
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... ORPHA:139507
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Thrombocytopenia OMIM:611126
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Hypercalcemia, Diarrhea, Increased circulating cortisol level, Esophagitis OMIM:131100
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Knee flexion contracture, Decreased circulating total IgM, Scleros... OMIM:618162
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level OMIM:607364
Congenital Sialidosis Type 2
Abnormal EKG, Inguinal hernia, Ataxia, Dysmetria, Hepatosplenomegaly, Telangiectasia, Umbilical h... ORPHA:93400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Diarrhea, Bronchiectasis, Enterocolitis... ORPHA:391487
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Epistaxis, Thrombocytopenia OMIM:277480
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... ORPHA:2330
Caroli Disease
Fever, Liver abscess, Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight... ORPHA:53035
Alternating Hemiplegia Of Childhood
Ataxia, Cardiac conduction abnormality, Oral-pharyngeal dysphagia, Anorexia, Aggressive behavior,... ORPHA:2131
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression OMIM:600740
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Parotitis, Raynaud phenomenon, Vasculitis, Decreased... ORPHA:289390
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... OMIM:614074
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Vom... ORPHA:244242
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Premature coronary artery atherosclerosis, Stroke-like episode, Right aortic... OMIM:300845
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Somatic sensory dysfunction, Ataxia, Difficulty walking ORPHA:320401
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Small for gestational age, Cardiac shunt, Congestive heart failure, Left ventricular... ORPHA:860
Cutis Marmorata Telangiectatica Congenita
Arteriovenous malformation, Patent ductus arteriosus, Arterial stenosis ORPHA:1556
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Recurrent pneumonia, Gastroesophageal reflux, Persistence of hemoglobin F OMIM:619769
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Unexplained fevers, A... ORPHA:209905
Nephronophthisis 2
Elevated circulating creatinine concentration, Respiratory failure, Hyperkalemia, Respiratory ins... OMIM:602088
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:603467
Cowden Syndrome 1
Kyphosis, Decreased circulating antibody level, Scoliosis, Lymphopenia, Subcutaneous lipoma OMIM:158350
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia, Overgrowth, Bradycardia, Pulmonary insufficienc... OMIM:614437
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Lcat Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:650
Alopecia Antibody Deficiency
Short stature, Decreased circulating antibody level ORPHA:1006
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Hypercalcemia, Nausea, Weight loss ORPHA:29072
Grfoma
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Anorexia, Diarrhea, Weight lo... ORPHA:97261
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Hutchinson-Gilford Progeria Syndrome
Precocious atherosclerosis, Premature coronary artery atherosclerosis OMIM:176670
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Weight loss, Hemato... ORPHA:913
Andersen Cardiodysrhythmic Periodic Paralysis
Hypokalemia, Depression OMIM:170390
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Chronic diarrhea, Recurrent pneumonia, A... ORPHA:647
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Xerostomia, Hepat... ORPHA:227990
Hereditary Chronic Pancreatitis
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration ORPHA:676
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Rift Valley Fever
Elevated hepatic transaminase, Back pain, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Reti... ORPHA:319251
Cleidocranial Dysplasia 1
Increased bone mineral density, Short stature, Kyphosis, Moderately short stature, Delayed pubic ... OMIM:119600
Proximal Renal Tubular Acidosis
Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting, Glycosuria, Polydipsia, Failure to thrive ORPHA:47159
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... OMIM:259730
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abnormality of thrombocytes, Dyspnea, Weight lo... ORPHA:79430
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Gastrocutaneous Syndrome
Coronary artery atherosclerosis ORPHA:2069
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Dystonia, Ataxia, Akinesia, Acanthocytosis, Tremor, Phonic tics, Depression, Chore... OMIM:234200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Inability to walk, Intercostal muscle weakness, Respiratory insufficiency, Highl... ORPHA:258
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia OMIM:620072
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Xerostomia, Hepat... ORPHA:227982
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Apolipoprotein A-I Deficiency
Atherosclerosis, Premature coronary artery atherosclerosis ORPHA:425
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227645
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypokalemia, Decreased circulating renin level ORPHA:90795
Cranioectodermal Dysplasia 1
Hypocalcemia OMIM:218330
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Attention deficit h... OMIM:227646
Tyrosinemia, Type I
Hypertyrosinemia, Gastrointestinal hemorrhage, Fever, Hypoglycemia, Elevated circulating alpha-fe... OMIM:276700
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormality of visual evoked potentials, Diabetes mellitus, Ataxia ORPHA:1215
Pseudohypoaldosteronism, Type Iia
Hyperkalemia OMIM:145260
Nelson Syndrome
Secondary hypercortisolism, Hypokalemia, Increased circulating cortisol level, Type II diabetes m... ORPHA:199244
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Occipital Horn Syndrome
Gastroparesis, Hypothermia, Gastroesophageal reflux, Esophagitis, Dysphagia ORPHA:198
Urachal Cyst
Fever, Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis, Peritonitis ORPHA:488
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Sponastrime Dysplasia
Joint laxity, Lumbar hyperlordosis, Small for gestational age, Rhizomelia, Kyphoscoliosis, Delaye... ORPHA:93357
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis ORPHA:209902
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P... ORPHA:284227
Dubowitz Syndrome
Abnormality of neutrophils, Thrombocytopenia, Asthma, Chronic diarrhea, Respiratory insufficiency... ORPHA:235
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Malignant Hyperthermia Of Anesthesia
Fever, Hypercapnia, Tachypnea, Hyperkalemia, Malignant hyperthermia, Hyperphosphatemia, Elevated ... ORPHA:423
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Depression, Self-injurious behavior, Constipation, Gastroesophageal reflux, ... ORPHA:847
Parathyroid Carcinoma
Hypercalcemia, Dysphagia, Weight loss, Constipation, Hypophosphatemia, Polydipsia ORPHA:143
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Rhizomelia, Platyspondyly, Neonatal short-limb short stature, Syn... ORPHA:50945
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia, Dysphagia ORPHA:261250
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Generalized Glucocorticoid Resistance Syndrome
Hypokalemia, Increased circulating cortisol level, Hypoglycemia ORPHA:786
Charge Syndrome
Hypocalcemia, Lymphopenia, Self-mutilation, Dysphagia OMIM:214800
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Anorexia, Hematemesis, Diarrhea, Depression, Melena, Weight loss, Increased circul... ORPHA:652
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Thrombocytopenia, Intestinal bleeding, Dystonia, Anemia OMIM:612199
Noonan Syndrome 4
Thrombocytopenia, Large for gestational age OMIM:610733
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Severe B lymphocytopenia, Postnatal growth retardation, Contracture of the dista... ORPHA:83617
African Trypanosomiasis
Abnormal EKG, Pericarditis, Akinesia, Aggressive behavior, Myocarditis, Congestive heart failure,... ORPHA:3385
Meckel Syndrome
Encephalocele, Accessory spleen, Pancreatic fibrosis, Situs inversus totalis, Cryptorchidism, Hyd... ORPHA:564
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Postural tremor, Ataxia, Splenomegaly, Truncal obesity, Aspiration pneumonia, Truncal ataxia, Thr... OMIM:301072
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Aganglionic megacolon, Ventricular septal defect, Aspl... ORPHA:210122
Coccidioidomycosis
Pericarditis, Osteomyelitis, Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Vascu... ORPHA:228123
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Acute Generalized Exanthematous Pustulosis
Fever, Neutrophilia, Eosinophilia, Dyspnea, Leukocytosis, Neutropenia ORPHA:293173
Johanson-Blizzard Syndrome
Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentration, Conjugate... OMIM:243800
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Netherton Syndrome
Increased circulating IgE level, Short stature, Decreased circulating antibody level ORPHA:634
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of one pulmo... ORPHA:3384
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochoki... OMIM:610217
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Sinus bradycardia, Chronic constipation, Gastroesophageal reflux, Difficulty walking, D... OMIM:619482
Whim Syndrome
Neutropenia, Abnormal neutrophil morphology, Limb ataxia, Decreased circulating antibody level, C... ORPHA:51636
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Mucopolysaccharidosis Type 2
Inguinal hernia, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Limitation of jo... ORPHA:580
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Classical-Like Ehlers-Danlos Syndrome Type 2
Varicose veins, Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis ORPHA:536532
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the... OMIM:208540
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cachexia ORPHA:1389
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Broad-based gait, Pancytopenia, Cachexia, Abnormality of the sp... ORPHA:2072
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Unsteady gait, Ataxia OMIM:256600
Lathosterolosis
Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st... ORPHA:444072
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Diarrhea, Fasting hyperinsulinemia, Increased circulating cortisol level, Esophagi... ORPHA:276152
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Chorea, Depression, Progressive gait ataxia, Difficulty walking, Dystonia, Ab... ORPHA:309271
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Steppage gait, Positive Romberg sign, Distal sensory imp... OMIM:601152
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Dysphagia, Constipation, Hypophosphatemia, Polydipsia ORPHA:99880
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Macroglossia, Abnorma... ORPHA:217085
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Ogden Syndrome
Torticollis, Apnea, Polycythemia, Maternal diabetes, Diarrhea, Irritability, Pulmonary arterial h... OMIM:300855
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Flexion contracture, Peripheral arterial stenosis, Macroglossia, Abnorma... ORPHA:217093
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac... ORPHA:276244
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Arteriovenous f... ORPHA:286
Argininemia
Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Vomiting, Episodic vomit... OMIM:207800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Gastroesophageal reflux, Const... OMIM:301040
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating renin level OMIM:202010
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Ulcerative colitis, Increased circulating IgG level, Inflammation ... ORPHA:562639
Tsh-Secreting Pituitary Adenoma
Tremor, Hypokalemia, Vomiting, Weight loss ORPHA:91347
Metachromatic Leukodystrophy
Ataxia, Bowel incontinence, Tremor, Tip-toe gait, Gait disturbance, Dystonia, Abnormality of visu... ORPHA:512
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive pro... ORPHA:449395
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Stroke, Coronary artery atherosclerosis OMIM:264800
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Melena ORPHA:853
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Abnormality of visual evoked potent... ORPHA:309256
Pyomyositis
Fever, Recurrent cutaneous abscess formation, Leukocytosis, Weight loss ORPHA:764
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Systemic Lupus Erythematosus
Hemolytic anemia, Chorea, Depression, Leukopenia, Thrombocytopenia ORPHA:536
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Diets-Jongmans Syndrome
Heterotaxy, Umbilical hernia, Ventricular septal defect OMIM:618846
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Laryngotracheomalacia, Dystonia OMIM:616875
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Porphyria, Congenital Erythropoietic
Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:263700
Aicardi-Goutières Syndrome
Diabetes mellitus, Unexplained fevers, Neonatal alloimmune thrombocytopenia, Tremor, Hepatospleno... ORPHA:51
Lmna-Related Cardiocutaneous Progeria Syndrome
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the ... ORPHA:363618
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Diarrhea, Hypertension, Arrhythmia, Anemia ORPHA:139411
Dextrocardia
Abnormal EKG, Abnormality of the spleen, T-wave inversion ORPHA:1666
Canavan Disease
Abnormality of visual evoked potentials, Gastroesophageal reflux ORPHA:141
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials, Asthma OMIM:614457
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating anti... OMIM:274000
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Weight loss, Incre... ORPHA:79078
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Dyskeratosis Congenita
Diabetes mellitus, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Anemia ORPHA:1775
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... ORPHA:99125
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Ataxia, Thrombocytopenia, Restrictive ventilatory defect, L... OMIM:305000
Metachromatic Leukodystrophy, Juvenile Form
Progressive gait ataxia, Dystonia, Abnormality of visual evoked potentials, Emotional lability, I... ORPHA:309263
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Pseudobulbar paralysis, Gait disturbance OMIM:125310
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Cardiac Diverticulum
Omphalocele, Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart... ORPHA:1686
Hardikar Syndrome
Hematemesis, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Irritability, Vomiting, Hyperbiliru... OMIM:301068
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology ORPHA:280195
Estrogen Resistance Syndrome
Coronary artery atherosclerosis ORPHA:785
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Postnatal growth retardatio... OMIM:269150
Hartsfield Syndrome
Hypernatremia OMIM:615465
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Cornelia De Lange Syndrome 1
Self-injurious behavior, Gastroesophageal reflux, Pneumonia, Thrombocytopenia OMIM:122470
Sclerosteosis 1
Sclerotic scapulae, Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic vertebr... OMIM:269500
Distal Deletion 19P
Vaginal hernia, Decreased circulating antibody level, Joint hyperflexibility, Umbilical hernia, K... ORPHA:96129
Neurofibromatosis Type 1
Arterial stenosis ORPHA:636
Sotos Syndrome
Hypercalcemia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Acute lymphoblastic leukemia, ... ORPHA:821
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Woodhouse-Sakati Syndrome
Osteopenia, Hyperlipidemia, Choreoathetosis, Growth delay, Delayed puberty, Abnormal T-wave ORPHA:3464
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Williams-Beuren Syndrome
Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Obesity, Chronic constipation, Gl... OMIM:194050
Fibular Hemimelia
Thrombocytopenia, Difficulty walking ORPHA:93323
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Failure to thrive in infancy, Transient ischemic attack, Gastroparesis, Sag... ORPHA:500150
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Decreased circulating cortisol level, Achalasia, Ataxia OMIM:231550
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Osteogenesis Imperfecta
Intestinal obstruction, Neonatal respiratory distress, Ataxia, Small for gestational age, Somatic... ORPHA:666
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Laryngotracheomalacia, Dystonic gait ORPHA:480898
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:91500
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... ORPHA:353281
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Joint hypermobility, Six lumbar vertebrae OMIM:619122
Cerebrotendinous Xanthomatosis
Resting tremor, Somatic sensory dysfunction, Ataxia, Aggressive behavior, Chronic diarrhea, Depre... ORPHA:909
Stargardt Disease
Abnormality of visual evoked potentials ORPHA:827
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo... ORPHA:273
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Thrombocytopenia, Splenomegaly, Gastroesophageal reflux, Vomiting, Type I diab... OMIM:619525
Multiple Endocrine Neoplasia Type 2
Diarrhea, Constipation, Hypercalcemia ORPHA:653
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials OMIM:617523
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Growth ... ORPHA:980
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials ORPHA:352731
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Aortic root aneurysm, Stroke, ... ORPHA:90324
Jacobsen Syndrome
Failure to thrive, Thrombocytopenia OMIM:147791
Jacobsen Syndrome
Thrombocytopenia, Constipation, Attention deficit hyperactivity disorder ORPHA:2308
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Supernumerary vert... OMIM:271520
Postaxial Acrofacial Dysostosis
Growth delay, Radioulnar synostosis, Postnatal growth retardation, Supernumerary vertebrae OMIM:263750
Ruvalcaba Syndrome
Abnormality of visual evoked potentials ORPHA:3121
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Anemia ORPHA:84
Aceruloplasminemia
Congestive heart failure, Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hep... ORPHA:48818
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Dysphagia ORPHA:485421
Cockayne Syndrome B
Ataxia, Small for gestational age, Tremor, Splenomegaly, Severe failure to thrive, Failure to thr... OMIM:133540
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Short stature, Bowel incontinence, Asplenia, Inability to walk, Abnormal repeti... ORPHA:261537
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Xerostomia, Incr... ORPHA:449432
Mowat-Wilson Syndrome
Asplenia, Flexion contracture, Vomiting, Abnormal repetitive mannerisms, Ataxia, Short stature, D... ORPHA:2152
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Pneumonia, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Asthm... ORPHA:353277
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Congenital diaphragmatic hernia, Splenomegaly, Birth length greater than 97th pe... OMIM:312870
Cockayne Syndrome A
Ataxia, Tremor, Splenomegaly, Gait disturbance, Abnormality of visual evoked potentials, Failure ... OMIM:216400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hypoventilation, Ataxia, Vomiting, Tracheomalacia, Failure to thrive, Abnormality of visual evoke... OMIM:203700
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology OMIM:614298
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Short stature, Bowel incontinence, Asplenia, Inability to walk, Abnormal repeti... ORPHA:261552
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Friedreich Ataxia 2
Abnormal EKG, Ataxia, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased... OMIM:601992
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis OMIM:615947
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Micro Syndrome
Abnormality of visual evoked potentials ORPHA:2510
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Large placenta, Cryptorchidism, Splenomegaly, Abnormal pancreas morph... ORPHA:116
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Hyperlipidemia OMIM:241080
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Semilobar Holoprosencephaly
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... ORPHA:220386
Alobar Holoprosencephaly
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... ORPHA:93926
Lobar Holoprosencephaly
Short stature, Inability to walk, Flexion contracture, Abnormal heart rate variability, Growth de... ORPHA:93924
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials ORPHA:79431
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, Holoprosencephaly ORPHA:280200
Waardenburg Syndrome, Type 1
Supernumerary vertebrae OMIM:193500

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

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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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