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Gene: Ociad1 MGI:1915345

Gene Summary

Name:

OCIA domain containing 1

Synonyms:

B230209J16Rik, 6030432N09Rik, TPA018, expressed during mesenchymal induction 2, Emi2, Asrij, Imi2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
shortened PR interval	Ociad1^em1(IMPC)J	HOM	Early adult	9.19×10^-05
increased leukocyte cell number	Ociad1^em1(IMPC)J	HOM	Early adult	2.28×10^-09
increased circulating glucose level	Ociad1^em1(IMPC)J	HOM	Early adult	1.61×10^-07
increased circulating phosphate level	Ociad1^em1(IMPC)J	HOM	Early adult	2.80×10^-05
decreased circulating total protein level	Ociad1^em1(IMPC)J	HOM	Early adult	8.10×10^-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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Combined SHIRPA and Dysmorphology

Images

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Ociad1 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.

Human diseases associated with Ociad1 (0 diseases)
Human diseases predicted to be associated with Ociad1 (1162 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ociad1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Immunodeficiency 15B	Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod...	OMIM:615592
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Pseudohypoparathyroidism Type 2	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94090
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi...	OMIM:241600
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Shortened ...	ORPHA:79102
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased...	ORPHA:26793
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Autoimmune Hypoparathyroidism	Prolonged QT interval, Ventricular arrhythmia, Abnormal left ventricular function, Hyperphosphate...	ORPHA:36913
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Hypoprotein...	ORPHA:99828
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
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
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:300376
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J...	ORPHA:137675
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis...	OMIM:226300
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Thrombocytosis, Elevated circulating creatine kinase concentration, Pu...	ORPHA:94093
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Gastrointestinal hemorrhage	ORPHA:2494
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Elevated circulating creatine kinase concentration, Left ventricular outflow tract obstruction, S...	ORPHA:308552
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:309930
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib...	OMIM:301082
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Trimethylaminuria	OMIM:602079
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia	ORPHA:99845
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Malignant Hyperthermia Of Anesthesia	High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula...	ORPHA:423
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat...	OMIM:615895
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ...	ORPHA:75564
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci...	OMIM:620282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ...	ORPHA:45452
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Sandhoff Disease	Splenomegaly, Kyphosis, Hepatomegaly	ORPHA:796
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Abcd Syndrome	Polycythemia	OMIM:600501
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Incre...	ORPHA:167
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:94089
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Johanson-Blizzard Syndrome	Diabetes mellitus, Hypoproteinemia, Anemia	ORPHA:2315
Colchicine Poisoning	Hyponatremia, Congestive heart failure, Myocarditis, Leukocytosis, Hypovolemia, Abnormal blood io...	ORPHA:31824
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
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
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmia	ORPHA:428
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho...	ORPHA:466650
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypertension, Glycosuria, Hypophosphatemia	OMIM:618913
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevate...	ORPHA:340
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia, Abnormal form of the vertebral bodies	ORPHA:1802
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, Hy...	ORPHA:90041
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Elevated circulating creatine kinase concentration, Vasculitis, Shorte...	ORPHA:365
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Reduced delayed ...	OMIM:603909
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade...	ORPHA:397596
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig...	OMIM:616005
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm...	ORPHA:331206
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Absent specific antibody response, Lymphopenia, Severe B lymphocytop...	OMIM:102700
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c...	OMIM:620210
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre...	OMIM:619510
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hypoproteinemia, Hypocalcemia, Hepatosplenomegaly	ORPHA:1655
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab...	ORPHA:572
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalc...	ORPHA:79444
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat...	OMIM:615122
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis, Anemia	ORPHA:2598
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:611225
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:182900
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria	OMIM:616026
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Galactose Epimerase Deficiency	Splenomegaly, Aminoaciduria, Jaundice, Hepatomegaly	ORPHA:79238
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad...	OMIM:618048
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Kyphosis,...	ORPHA:77259
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a...	OMIM:235700
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Necrotizing Enterocolitis	Hyponatremia, Shock, Leukocytosis, Neutropenia, Bradycardia, Hypotension, Abnormal glucose homeos...	ORPHA:391673
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Juvenile Temporal Arteritis	Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia	ORPHA:26137
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Hypertension, Hyperphosphatemia, Hypocalcemia, Hypocalcemic te...	ORPHA:79443
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase, Impaired myoca...	ORPHA:681
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Glycosuria, Hypophosphatemia	OMIM:308990
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Kyphosis, Nephropathy, Ascites	ORPHA:87876
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Pgm3-Cdg	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T...	ORPHA:443811
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg...	ORPHA:829
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy...	ORPHA:2088
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites	OMIM:269920
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ...	OMIM:616050
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia	OMIM:611490
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:158061
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, T lymphocytopenia, Decreased circulating IgG level, Abnormality o...	ORPHA:508533
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ...	ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Roifman Syndrome	Hepatomegaly, Biconvex vertebral bodies, Eosinophilia, Splenomegaly, Lymphadenopathy, Irregular v...	OMIM:616651
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Livedoid Vasculopathy	Leukocytosis, Pancytopenia, Polycythemia, Anemia	ORPHA:542643
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ...	OMIM:227810
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Thrombocytopen...	ORPHA:540
Cystinosis	Type I diabetes mellitus, Hypokalemia, Portal hypertension, Hypophosphatemia	ORPHA:213
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria	ORPHA:2089
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly	OMIM:609981
Fanconi Renotubular Syndrome 1	Glycosuria, Hypokalemia, Hypophosphatemia	OMIM:134600
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cold Agglutinin Disease	Back pain, Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Short neck, Splenomegaly, Micronodular cirrhosis, Patent ductus arter...	OMIM:606003
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space...	OMIM:607944
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Wilson Disease	Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Splenomegaly, Jaun...	ORPHA:905
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspondyly...	OMIM:230600
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration	ORPHA:676
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Abnormal vertebral...	ORPHA:93476
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Poems Syndrome	Thrombocytosis, Polycythemia	ORPHA:2905
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Short neck, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, ...	OMIM:617303
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Thrombocytopenia, Insulin resistance, Fasting hype...	ORPHA:2298
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab...	ORPHA:47612
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Thrombocytopenia, Leukocytosis, Jaundice, Hematuria,...	ORPHA:91547
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypoplastic vertebral b...	OMIM:230500
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Alpha-Mannosidosis	Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Scoliosis	ORPHA:61
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Thrombocytopenia	ORPHA:290
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ...	OMIM:300755
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Gitelman Syndrome	Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A...	ORPHA:358
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy...	OMIM:620005
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral r...	OMIM:614576
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Short neck, Kyphosis, Hepatosplenomegaly, Polycystic kidney dysplasia, Ascites	OMIM:608776
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Portal hypertension, Increased circulating ferritin concentration, Elevated tr...	ORPHA:465508
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Glycosuria	OMIM:618857
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Classic Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Hepatomegaly	ORPHA:391
Fanconi Renotubular Syndrome 2	Glycosuria, Hypophosphatemia	OMIM:613388
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Pierson Syndrome	Hypertension, Hypoproteinemia, Retinal hemorrhage	OMIM:609049
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increased urinary O-linked sialop...	ORPHA:812
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Hereditary Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Abnor...	ORPHA:30
Borjeson-Forssman-Lehmann Syndrome	Kyphosis, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis	OMIM:301900
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Thoracic scoliosis, Hypospadias, Microcy...	ORPHA:2959
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Srd5A3-Cdg	Elevated hepatic transaminase, Kyphosis, Abnormal sacrum morphology, Microcytic anemia	ORPHA:324737
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Anemia, Abnormal form of the vertebral bodies	ORPHA:3344
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormal sa...	ORPHA:464329
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level, Lymphopenia	OMIM:605309
Beta-Ketothiolase Deficiency	Hypoglycemia, Leukocytosis, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, Thrombocyto...	ORPHA:134
Legionnaires Disease	Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ...	ORPHA:549
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Vertebral compression fracture, ...	OMIM:230800
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating cre...	ORPHA:230
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Transient ischemic ...	ORPHA:2929
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased cir...	OMIM:617591
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, T lymphocyt...	OMIM:618223
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia	ORPHA:469
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Portal hypertension, H...	OMIM:613385
Fumarase Deficiency	Polycythemia	OMIM:606812
Winchester Syndrome	Kyphosis	OMIM:277950
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hepatomegaly	OMIM:618234
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Glycosuri...	ORPHA:411634
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Majeed Syndrome	Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic...	ORPHA:77297
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Cardiac conduction abnormality, Hypomagnesemia,...	ORPHA:699
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis	OMIM:611590
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, ...	ORPHA:2070
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Patent ...	OMIM:251290
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ...	ORPHA:391487
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, Sc...	OMIM:252900
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus	OMIM:618658
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Fused cervical vertebrae	OMIM:612852
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Polycythemia	ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Hyperglycemia	OMIM:619737
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar...	OMIM:252920
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Left ventricular hypertrophy, Decreased T cell acti...	OMIM:242840
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumb...	OMIM:252930
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Kyphosis, Jaundice, Normoch...	OMIM:615512
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti...	ORPHA:466677
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Hurler-Scheie Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Dermatan sulfate excret...	OMIM:607015
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ...	ORPHA:3337
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Hyperlordosis, Abnormal T cell subset distribution, Decreased circulat...	ORPHA:221139
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy...	OMIM:208900
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decre...	ORPHA:1572
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis, Decreased circulating antibody level	ORPHA:85317
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Thromb...	OMIM:259700
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine...	OMIM:611881
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Scoliosis, Short neck	OMIM:611890
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec...	ORPHA:231625
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Renal hypop...	ORPHA:84064
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Mucopolysacchariduria	ORPHA:583
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Ascites, Decreased circulating IgE, D...	OMIM:615758
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in...	OMIM:153670
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le...	ORPHA:247353
Sepsis In Premature Infants	Hepatomegaly, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, Oliguria, Decreased liver f...	ORPHA:90051
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased circulating IgG level, Decreased ...	OMIM:300861
Ogden Syndrome	Iron deficiency anemia, Polycythemia, Thrombocytopenia	OMIM:300855
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia	ORPHA:90037
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis	OMIM:618392
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion...	OMIM:253220
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Kyphosis, Renal cyst, Nephrotic syndrom...	OMIM:212065
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbiliru...	OMIM:229600
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Patent ductus arteriosus, Hydronephrosis, Scoliosis	OMIM:619797
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypertension, Hypophosphatemia	OMIM:104200
Dent Disease 1	Glycosuria, Hypophosphatemia	OMIM:300009
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis	OMIM:313420
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia, Hyperammonemia	OMIM:615453
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Infantile Nephropathic Cystinosis	Glycosuria, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Alg12-Cdg	Elevated hepatic transaminase, Hypospadias, Partial absence of specific antibody response to Haem...	ORPHA:79324
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Mucopolysaccha...	ORPHA:584
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Kyphosis, Scoliosis, Leukemia, Vesicoureteral reflux, Micropenis	OMIM:619951
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Hypospadias, Scoliosis	ORPHA:1548
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis	ORPHA:1875
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Hurler Syndrome	Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Splenomegaly, Hypoplasia of the odo...	OMIM:607014
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat...	OMIM:310200
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Gm1 Gangliosidosis	Hyperlordosis, Splenomegaly, Kyphosis, Patent ductus arteriosus, Abnormal form of the vertebral b...	ORPHA:354
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Dermatan su...	OMIM:309900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic kidney disea...	OMIM:249100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Renal tubular ...	ORPHA:79240
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Scoliosis	ORPHA:352490
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cleft vertebral arch, Decreased circ...	ORPHA:83617
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Kyp...	OMIM:300280
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatospl...	ORPHA:781
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Kyphosis, Ch...	ORPHA:1855
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Patent ductus arteriosus, D...	ORPHA:79329
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Increased circulating IgE level, Scoliosis	ORPHA:1858
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis	OMIM:615834
Cowden Syndrome 1	Kyphosis, Lymphopenia, Scoliosis, Decreased circulating antibody level	OMIM:158350
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis	OMIM:232800
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Decreased circulating total IgG, Follicular hyperplasia, S...	OMIM:619381
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Kyphosis, Abnormality of the cervical spine, Scoliosis	ORPHA:48431
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Hypoglycemia, Elevated circulating creatine kinase concentra...	ORPHA:480864
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepat...	OMIM:610199
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ...	ORPHA:293978
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Scoliosis, Short neck	ORPHA:75840
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Hydronep...	OMIM:251260
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnormality of the pancr...	OMIM:222470
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce...	OMIM:253000
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios...	ORPHA:2635
Lysinuric Protein Intolerance	Hepatomegaly, Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Leukopenia, Aminoac...	OMIM:222700
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:151660
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Pat...	OMIM:602782
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Elevated...	OMIM:277900
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Von Hippel-Lindau Disease	Polycythemia	ORPHA:892
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension, Hyperglycemia	OMIM:615954
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangit...	ORPHA:3260
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Alg1-Cdg	Renal insufficiency, Kyphosis, Nephrotic syndrome, Decreased liver function, Scoliosis	ORPHA:79327
Noonan Syndrome 14	Kyphosis, Lymphopenia, Short neck	OMIM:619745
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype...	ORPHA:3008
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Gly...	OMIM:219800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Hypersplenism, Thrombocytopenia, L...	ORPHA:1304
Fibrous Dysplasia Of Bone	Diabetes mellitus, Hypercalcemia, Hypophosphatemia	ORPHA:249
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis	ORPHA:816
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Urinary incontinence, Scoliosis	OMIM:614409
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochr...	OMIM:301040
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Biliary tract abnormality, Scoliosis, Short neck	ORPHA:3191
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c...	ORPHA:2968
Camurati-Engelmann Disease	Hepatomegaly, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral col...	ORPHA:1328
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:2617
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Kyphosis, Scoliosis, Micropenis, Thrombocytopenia	OMIM:619005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
16Q24.3 Microdeletion Syndrome	Kyphosis, Increased mean corpuscular volume, Scoliosis, Thrombocytopenia	ORPHA:261250
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Baralle-Macken Syndrome	Kyphosis, Urinary incontinence	OMIM:619255
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Urinary incontinence, Scoliosis	ORPHA:464282
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:618484
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Abdominal situs inversus	OMIM:619123
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short neck, Kyphosis, Increased circulating IgE level, Abnormality of the ur...	ORPHA:3409
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Kyphosis, Elevated circulating alanine aminotransfer...	OMIM:615381
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:536516
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a...	ORPHA:3243
Parathyroid Carcinoma	Shortened QT interval, Hypercalcemia, Hypophosphatemia	ORPHA:143
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Vertebral comp...	OMIM:263700
Pycnodysostosis	Hyperlordosis, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Spondylolisthesis	ORPHA:763
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Enlarged kidney	OMIM:618272
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ...	ORPHA:50918
Trisomy 13	Kyphosis, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Scoliosis, D...	ORPHA:3378
Mucolipidosis Iii Gamma	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:252605
Thanatophoric Dysplasia	Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondyloly...	OMIM:208400
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Micropenis	OMIM:615433
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating a...	ORPHA:77261
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Anemia, Thrombocytopenia	OMIM:620185
Beckwith-Wiedemann Syndrome	Splenomegaly, Polycythemia	ORPHA:116
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Cohen Syndrome	Kyphosis, Scoliosis, Neutropenia	ORPHA:193
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:248370
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Nephrolithiasis, Spinal rigidity	ORPHA:352447
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Hypophosphatemia, Pulmonary arterial hypertension, Anemia	ORPHA:667
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria	ORPHA:1652
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia	ORPHA:99843
Diastrophic Dysplasia	Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies	ORPHA:628
Myofibrillar Myopathy 10	Left ventricular hypertrophy, Kyphosis	OMIM:619040
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis...	OMIM:253010
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Lymphopenia	OMIM:619708
Yellow Fever	Low back pain, Renal insufficiency, Anuria, Neutrophilia, Acute pancreatitis, Elevated circulatin...	ORPHA:99829
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Arthrogryposis, Distal, Type 5	Kyphosis, Scoliosis	OMIM:108145
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis, Micropenis, Hypospadias	OMIM:300354
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Raine Syndrome	Hypophosphatemia	OMIM:259775
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Abnormal sacroiliac joint morphology, Peritonitis, Lymphadenopathy	ORPHA:32960
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Scoliosis	OMIM:612918
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Schaaf-Yang Syndrome	Kyphosis, Micropenis, Scoliosis	OMIM:615547
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Abnormality of the ur...	ORPHA:2311
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Kyphosis, Platyspondyly	ORPHA:93274
Emanuel Syndrome	Sacral dimple, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Renal hypoplasia, S...	OMIM:609029
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:618443
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo...	ORPHA:534
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Proteinuria, Acute pancreatitis, Splenomegaly, Leukocyt...	ORPHA:99827
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
19P13.12 Microdeletion Syndrome	Hypospadias, Short neck, Kyphosis, Scoliosis, Hepatic steatosis	ORPHA:254346
Rhizomelic Syndrome, Urbach Type	Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Abnormal mesentery morphology, Abnormality o...	ORPHA:2075
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia, Portal hypertension	ORPHA:440713
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Ante...	ORPHA:349
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Wieacker-Wolff Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:314580
15Q24 Microdeletion Syndrome	Kyphosis, Hypospadias, Microphallus, Scoliosis	ORPHA:94065
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ...	OMIM:203800
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Shashi-Pena Syndrome	Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Scoliosis, Cervical C2/C3 vertebra...	OMIM:617190
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis	ORPHA:2181
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
Wieacker-Wolff Syndrome, Female-Restricted	Kyphosis, Urinary incontinence, Scoliosis, Short neck	OMIM:301041
Telangiectasia, Hereditary Hemorrhagic, Type 2	Polycythemia, Anemia	OMIM:600376
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Hypoplasia of penis, Short neck	ORPHA:3082
Poland Syndrome	Hypospadias, Short neck, Kyphosis, Hemivertebrae, Renal hypoplasia, Acute leukemia, Vertebral seg...	ORPHA:2911
3C Syndrome	Hypoplasia of penis, Hypospadias, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Hydronephrosis	ORPHA:7
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Splenomegaly, Kyphosis, ...	ORPHA:955
Flynn-Aird Syndrome	Kyphosis, Scoliosis	ORPHA:2047
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Scoliosis	OMIM:607155
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis	ORPHA:98863
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Hypoplasia of penis, Spina bifida occulta, Short neck	ORPHA:2983
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter...	ORPHA:90324
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Trisomy 20P	Hypospadias, Short neck, Kyphosis, Abnormality of the ureter, Abnormal form of the vertebral bodi...	ORPHA:261318
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98855
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis	ORPHA:171436
Bruck Syndrome 1	Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging	OMIM:259450
Cockayne Syndrome Type 2	Kyphosis, Scoliosis, Hepatomegaly	ORPHA:90322
Marden-Walker Syndrome	Hypospadias, Short neck, Kyphosis, Renal hypoplasia, Scoliosis, Micropenis	OMIM:248700
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Micropenis, Hydronephrosis, Scoliosis	ORPHA:364028
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Patent ductus arteriosus, Scoliosis	OMIM:617061
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Ruvalcaba Syndrome	Hematuria, Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis	ORPHA:3121
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Urinary incontinence, Kyphosis, Platyspondyly	OMIM:616482
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Stickler Syndrome, Type I	Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist...	OMIM:108300
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98853
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Hypospadias, Kyphosis, Vertebral segmentation defect, Sco...	ORPHA:96169
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia	OMIM:609069
Distal 16P11.2 Microdeletion Syndrome	Vesicoureteral reflux, Kyphosis, Chronic kidney disease, Proteinuria	ORPHA:261222
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Anemia	OMIM:187300
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Congenital Myopathy 22A, Classic	Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity	OMIM:620351
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Becker Nevus Syndrome	Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Distal Triplication 15Q	Kyphosis, Patent ductus arteriosus, Horseshoe kidney, Scoliosis, Polycystic kidney dysplasia, Hyd...	ORPHA:314588
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,...	ORPHA:582
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Marinesco-Sjogren Syndrome	Kyphosis, Scoliosis	OMIM:248800
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Scoliosis	ORPHA:1883
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis	ORPHA:2771
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop...	ORPHA:3042
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Scoliosis, Spinal rigidity	OMIM:254090
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis, ...	OMIM:130720
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Patent ductus arteriosus, Scoliosis, Vesicoureteral re...	OMIM:610443
Harrod Syndrome	Kyphosis, Multicystic kidney dysplasia, Hypospadias, Scoliosis	ORPHA:2115
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Leprechaunism	Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i...	ORPHA:508
Mucolipidosis Type Ii	Left ventricular hypertrophy, Splenomegaly, Kyphosis, Hepatosplenomegaly	ORPHA:576
Holt-Oram Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis	ORPHA:392
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Kyphosis, Patent ductus arteriosus, ...	ORPHA:1606
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Hypospadias, Hydronephrosis, Scoliosis	OMIM:616449
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Patent ductus arteriosus	OMIM:619909
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2789
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis, Hydronephrosis	ORPHA:568
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Kyphosis, Thymic hormone decreased,...	OMIM:216400
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, Male urethral meatus stenosis, Scoliosis, Cholelithiasis, Hydronephrosis	ORPHA:464738
Arthrogryposis, Distal, Type 4	Kyphosis, Lumbar scoliosis, Scoliosis	OMIM:609128
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Micro Syndrome	Kyphosis, Hypoplasia of penis, Hydronephrosis, Scoliosis	ORPHA:2510
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Jaberi-Elahi Syndrome	Kyphosis, Scoliosis	OMIM:617988
Marfanoid Habitus With Situs Inversus	Kyphosis, Scoliosis	OMIM:609008
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Kyphosis, Micropenis	OMIM:133540
2P15P16.1 Microdeletion Syndrome	Kyphosis, Multicystic kidney dysplasia, Hydronephrosis, Scoliosis	ORPHA:261349
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Urinary incontinence, Scoliosis	ORPHA:88644
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Hyperglycemia, Hypovolemia, Glycosuria	ORPHA:99885
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Hypertrophic cardiomyopathy	OMIM:124000
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria...	ORPHA:191
X-Linked Intellectual Disability, Cabezas Type	Kyphosis, Hypoplasia of penis, Scoliosis, Short neck	ORPHA:85293
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Atypical Werner Syndrome	Hypertriglyceridemia, Telangiectasia of the skin, Diabetes mellitus, Congestive heart failure, In...	ORPHA:79474
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:192
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1005
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Pancreatitis	OMIM:610475
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Renal cyst, Scoliosis...	ORPHA:464311
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bladder diverticulum, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Scoliosis	ORPHA:2215
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body	OMIM:618476
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Nephrolithiasis, Biconcave vertebral bodies	OMIM:219090
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short neck, Kyphosis, Scoliosis, Hydronephrosis	ORPHA:140
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Scoliosis	ORPHA:88628
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Renal cyst, Scoliosis...	ORPHA:464306
Osteogenesis Imperfecta	Cervical kyphosis, Kyphosis, Vertebral compression fracture, Hypercalciuria, Nephrolithiasis, Abn...	ORPHA:666
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis	OMIM:300966
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Abnormality ...	ORPHA:800
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:2479
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Hypospadias, Scoliosis	OMIM:617602
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis, Vesicoureteral reflux, ...	OMIM:616894
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Micropenis, Scoliosis	ORPHA:500055
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Marshall-Smith Syndrome	Thoracic scoliosis, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Patent ductus a...	OMIM:602535
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Hypospadias, Kyphosis, Biliary tract abnormali...	OMIM:194190
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2050
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short neck, Kyphosis, Patent duct...	ORPHA:818
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Urinary incontinence, Scoliosis	ORPHA:476126
Weaver Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis	OMIM:277590
Multiple Pterygium Syndrome, Escobar Variant	Hypospadias, Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Scoliosis, ...	OMIM:265000
Wolf-Hirschhorn Syndrome	Sacral dimple, Hypospadias, Kyphosis, Abnormality of the gallbladder, Abnormal form of the verteb...	ORPHA:280
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Scoliosis	OMIM:618493
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D...	OMIM:203500
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Micropenis, Scoliosis	ORPHA:398069
2Q31.1 Microdeletion Syndrome	Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck	ORPHA:251014
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia	ORPHA:293987
Zttk Syndrome	Absent gallbladder, Polyuria, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Hemi...	OMIM:617140
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Sacral dimple, Short neck, Kyphosis, Vertebral...	ORPHA:1507
Proteus Syndrome	Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Kyphosis, Long penis, Enlarged polycyst...	ORPHA:744
Neurofibromatosis Type 1	Kyphosis, Leukemia, Scoliosis, Chronic myelogenous leukemia	ORPHA:636
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Hypospadias, Epispadias, Ky...	ORPHA:2461
Prader-Willi Syndrome	Kyphosis, Micropenis, Scoliosis	OMIM:176270
Classic Homocystinuria	Elevated hepatic transaminase, Kyphosis, Scoliosis, Hepatomegaly	ORPHA:394
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypoglycemia, Hyperammonemia, Hypertension, Mitral regurgitation, Hyperglycemia, Hypertrophic car...	OMIM:220111
Alexander Disease	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:58
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Horseshoe kidney, Fused cervical vertebrae, Ve...	ORPHA:1724
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis	ORPHA:536532
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis	OMIM:616914
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Elevated hepatic transaminase, Hypospadias, Kyphosis, Jaundice, Abnormal abdomen morph...	OMIM:619475
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Hyperglycemia, Pulmonary arterial hypertension	ORPHA:444077
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Kyphosis	OMIM:610489
Occipital Horn Syndrome	Kyphosis, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Platyspondyly, Scoliosis	ORPHA:198
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis, Vesicoureteral reflux, Spondyloli...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis, Vesicoureteral reflux, Spondyloli...	ORPHA:363958
Cdags Syndrome	Rectourethral fistula, Kyphosis, Hypospadias	OMIM:603116
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Sacrococcygeal teratoma, Hypospadias, Phimosis, Kyphos...	ORPHA:821
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Viss Syndrome	Kyphosis, Patent ductus arteriosus, Increased circulating IgE level, Hypereosinophilia, Increased...	OMIM:619472
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Scoliosis	OMIM:619194
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
X-Linked Intellectual Disability, Snyder Type	Kyphosis, Hypospadias, Kyphoscoliosis, Ectopic kidney	ORPHA:3063
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis	OMIM:617527
17Q11 Microdeletion Syndrome	Kyphosis, Renovascular hypertension, Abnormality of the vertebral column, Renal artery stenosis, ...	ORPHA:97685
Plaa-Associated Neurodevelopmental Disorder	Kyphosis	ORPHA:521426
Frank-Ter Haar Syndrome	Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis	OMIM:249420
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral endplates, Corona...	OMIM:143095
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Short neck, Kypho...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Short neck, Kypho...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Short neck, Kypho...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, High urinary gonadotropin level, Ectopic kidney, Short neck, Kypho...	ORPHA:881
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Pulmonic stenosis, Glycosuria	OMIM:600001
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Scoliosis	OMIM:618050
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Abnormal form of the vertebral bodies, Nephrocalcinosis, Verte...	ORPHA:904
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Scoliosis, Elevated urinary epinephrine level	OMIM:162300
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis, Hypospadias	OMIM:609944
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres...	OMIM:259770
Monosomy 9Q22.3	Kyphosis, Abnormality of the vertebral column, Short neck	ORPHA:77301
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Cardiomegaly, Kyphosis, Patent ductus arteriosus, Scoliosis, Right ventricular hy...	OMIM:300967
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Micropenis, Hypospadias, Scoliosis	OMIM:619718
Familial Osteodysplasia, Anderson Type	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Hypospadias, Unilateral renal agenesis, Kyphosis, Chordee, Scoliosis, Micropenis	ORPHA:268261
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Scoliosis	OMIM:619557
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Diabetic ketoacidosis, Congestive heart fai...	OMIM:601992
Autosomal Recessive Spastic Paraplegia Type 35	Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna	ORPHA:171629
Occipital Horn Syndrome	Ureteral obstruction, Kyphosis, Bladder diverticulum, Platyspondyly, Hydronephrosis	OMIM:304150
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Micropenis, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:457359
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, Epispadias, Kyphosis, Scoliosis	ORPHA:2658
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Alström Syndrome	Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis...	ORPHA:64
Coffin-Siris Syndrome 1	Sacral dimple, Hydroureter, Hypospadias, Ectopic kidney, Kyphosis, Patent ductus arteriosus, Rena...	OMIM:135900
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Mend Syndrome	Kyphosis, Crossed fused renal ectopia, Sacral dimple	OMIM:300960
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Hypospadias	ORPHA:85199
Cowden Syndrome	Abnormal penis morphology, Kyphosis, Enlarged polycystic ovaries, Scoliosis	ORPHA:201
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Kyphosis, Bicarbonaturia, Proximal renal tubular acidosis...	OMIM:309000
Cerebrocostomandibular Syndrome	Kyphosis, Multicystic kidney dysplasia	ORPHA:1393
Stickler Syndrome	Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:828
Mend Syndrome	Kyphosis, Sacral dimple	ORPHA:401973
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Urinary incontinence, Scoliosis	OMIM:619482
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral mor...	ORPHA:2273
Marfan Syndrome	Kyphosis, Scoliosis, Spondylolisthesis	ORPHA:558
Acromegaly	Dysuria, Kyphosis, Wide penis, Long penis, Spinal canal stenosis	ORPHA:963
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Branchiooculofacial Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Renal cyst, Duplication of internal organs, Ect...	OMIM:113620
Somatomammotropinoma	Kyphosis, Spinal canal stenosis, Dysuria	ORPHA:314769
Coffin-Lowry Syndrome	Kyphosis, Scoliosis, Lumbar kyphosis	OMIM:303600
Ramon Syndrome	Kyphosis, Scoliosis	OMIM:266270
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Wrinkly Skin Syndrome	Kyphosis, Scoliosis	OMIM:278250
Primrose Syndrome	Kyphosis, Posterior scalloping of vertebral bodies, Irregular vertebral endplates	OMIM:259050
Yunis-Varon Syndrome	Kyphosis, Micropenis, Hypospadias, Anterior concavity of thoracic vertebrae	OMIM:216340

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 Ociad1

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 Ociad1.

No publications found that use IMPC mice or data for Ociad1.

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MGI Allele	Allele Type	Produced
Ociad1^{tm186906(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ociad1^em1(IMPC)J	Exon Deletion	Mice
Ociad1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ociad1 MGI:1915345

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Combined SHIRPA and Dysmorphology

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Ociad1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data