Gene Summary

Name:
F-box protein 10
Synonyms:
FBX10,  LOC269529

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased blood urea nitrogen level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 1.20×10-11
decreased circulating triglyceride level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 6.87×10-13
decreased neutrophil cell number Fbxo10tm1b(KOMP)Wtsi HOM Early adult 2.89×10-05
decreased mean corpuscular hemoglobin Fbxo10tm1b(KOMP)Wtsi HOM Early adult 5.20×10-13
decreased mean corpuscular volume Fbxo10tm1b(KOMP)Wtsi HOM Early adult 1.76×10-12
hyperactivity Fbxo10em1(IMPC)J HOM Early adult 9.65×10-05
decreased circulating calcium level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 3.27×10-08
decreased hematocrit Fbxo10tm1b(KOMP)Wtsi HOM Early adult 5.21×10-06
decreased circulating phosphate level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 7.92×10-06
decreased circulating glucose level Fbxo10tm1b(KOMP)Wtsi HOM Early adult 8.44×10-05
decreased cardiac muscle contractility Fbxo10tm1b(KOMP)Wtsi HOM Early adult 5.49×10-09

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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

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Fbxo10 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.

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

The table below shows human diseases predicted to be associated to Fbxo10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin ... OMIM:612526
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... ORPHA:98826
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Elevated transferrin saturation, Incre... OMIM:604250
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94090
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Hyponatremia, Neutropenia OMIM:616949
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder OMIM:617863
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Fanconi Anemia, Complementation Group G
Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly OMIM:619658
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... ORPHA:90044
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Splenomegaly ORPHA:172
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... OMIM:616689
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
2P21 Microdeletion Syndrome
Hypoglycemia, Hypocalcemia ORPHA:163693
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Hypovolemia, Arrhythmi... ORPHA:31824
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... ORPHA:98870
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... OMIM:620044
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Diamond-Blackfan Anemia 4
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia OMIM:612527
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Timothy Syndrome
Hypoglycemia, Hypocalcemia, Prolonged QT interval, Bradycardia OMIM:601005
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation ORPHA:47
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Hypocalcemia, Ventricular arrhythmia, Hypocalcemic tetany, Hy... ORPHA:36913
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Anemia, Hypocalcemia ORPHA:53
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Fanconi Renotubular Syndrome 5
Hypertension, Hypophosphatemic rickets, Hypophosphatemia, Glycosuria OMIM:618913
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hematochezia, Anemia OMIM:175500
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Type I diabetes mellitus, Transient neutropenia OMIM:619707
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:79312
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Glycogen Storage Disease Vi
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Rhabdoid Tumor
Hypercalcemia, Internal hemorrhage, Hypertension, Anemia, Thrombocytopenia ORPHA:69077
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia OMIM:617056
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Methylmalonic a... OMIM:251000
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia ORPHA:94086
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia OMIM:251900
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... ORPHA:2088
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, ... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... OMIM:613673
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia OMIM:239200
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Fanconi Renotubular Syndrome 2
Hypophosphatemia, Glycosuria OMIM:613388
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Propionic Acidemia
Cerebellar hemorrhage, Hyperammonemia, Pancytopenia, Hypoglycemia, Hyperglycinemia, Neutropenia, ... OMIM:606054
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... ORPHA:88
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Tachycardia, Arrhythmia,... ORPHA:26793
Slc35A1-Cdg
Pulmonary hemorrhage, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Familial Isolated Hyperparathyroidism
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia ORPHA:99879
Necrotizing Enterocolitis
Leukocytosis, Hypotension, Shock, Abnormal glucose homeostasis, Neutropenia, Hyponatremia, Thromb... ORPHA:391673
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... ORPHA:35858
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Neonatal Lupus Erythematosus
Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal electrophysiol... ORPHA:398124
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259700
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Elevated circulating creatine kinase ... OMIM:619743
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia OMIM:616026
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotens... ORPHA:94093
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Glycosuria OMIM:308990
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Griscelli Syndrome Type 2
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia ORPHA:79477
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures ORPHA:94089
Hypotonia-Cystinuria Syndrome
Neonatal hypoglycemia, Hypocalcemia OMIM:606407
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, B lymphocytopenia, Decreased proportion ... OMIM:619705
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Steatorrhea, Neutropenia OMIM:618752
Kenny-Caffey Syndrome, Type 2
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Neutropenia OMIM:617248
Orthostatic Hypotension 2
Hypoglycemia, Orthostatic hypotension, Anemia OMIM:618182
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Thrombocytopenia, Hyper... OMIM:614857
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Glycosuria, Hypokalemia OMIM:134600
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Hypotensio... ORPHA:292
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Neutropenia OMIM:613502
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Abscess, Tachycardia, Elevated circulating c... ORPHA:36234
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Pearson Syndrome
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Steatorrh... ORPHA:699
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... ORPHA:98850
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Cystinosis
Hypophosphatemia, Type I diabetes mellitus, Portal hypertension, Hypokalemia ORPHA:213
Specific Granule Deficiency 2
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Uremic Pruritus
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia ORPHA:94059
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... ORPHA:37042
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Barth Syndrome
Granulocytopenia, Tricuspid regurgitation, Arrhythmia, Hypochromic microcytic anemia, Increased l... OMIM:302060
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Adamantinoma
Hypercalcemia ORPHA:55881
Celiac Disease, Susceptibility To, 1
Hypocalcemia, Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Type I diab... OMIM:212750
Cholera
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia, Abnormal bl... ORPHA:173
Familial Isolated Hypoparathyroidism
Hypocalcemia, Arrhythmia ORPHA:2238
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Gitelman Syndrome
Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Abnormal T-wave, Pal... ORPHA:358
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Whim Syndrome 1
Neutropenia OMIM:193670
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabetes mellitus, Ne... OMIM:301078
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Anemia, Neutropenia OMIM:614900
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... ORPHA:2169
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Hypoketotic hypoglycemia, Arrhythmia... ORPHA:746
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Anemia, Hypoglycemia, Elevated circulating creatine kinase ... OMIM:618838
Genetic Recurrent Myoglobinuria
Hypocalcemia, Arrhythmia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia ORPHA:99845
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Type I diabetes mell... OMIM:304790
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... OMIM:259720
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... OMIM:619220
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... OMIM:145600
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:610021
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:601859
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia ORPHA:557003
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Thrombocytopenia OMIM:603585
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm... OMIM:251110
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia OMIM:227810
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Lacunar stroke, Splenomegaly OMIM:618440
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Retinal Venous Beading
Vitreous hemorrhage, Retinal neovascularization, Neutropenia OMIM:180080
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
3-Methylglutaconic Aciduria, Type Viia
Anemia, Anisopoikilocytosis, Neutropenia OMIM:619835
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Wolcott-Rallison Syndrome
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Neonatal insulin-depen... ORPHA:1667
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level ORPHA:157215
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... OMIM:169400
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Orthostatic hypotension, Eosinophilia, Normocytic anemia, H... ORPHA:199299
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... ORPHA:540
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... ORPHA:572
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm... OMIM:251100
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration OMIM:307800
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... OMIM:612561
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Steatorrhea, Leukopenia, Aplastic... ORPHA:811
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Lymphopenia, Transient ischemic attack, Abnormal proportion of naive CD4 T cells,... ORPHA:1830
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Hypocalcemic seizures OMIM:264700
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231222
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Methylmalonic acidemia... OMIM:277380
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Erythrocytosis, Familial, 2
Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, Increased ... OMIM:263400
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes ORPHA:464370
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Glycosuria, Hypocalcemic tetany, Elevat... ORPHA:411634
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Hypophosphatemia OMIM:241530
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Sudden cardiac death, Hypocalcemic tetany, Dilated cardiomyopathy, ... ORPHA:73224
Vitamin D-Dependent Rickets, Type 2A
Hypophosphatemia, Hypocalcemic seizures OMIM:277440
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... OMIM:618839
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia ORPHA:251004
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... OMIM:618835
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Leukocytosis, Brain abscess, Hyperkalemia, Myocarditis, Hemolytic anemia, Hyponatre... ORPHA:544482
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia OMIM:600081
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Syncope, Autoi... ORPHA:1959
Morm Syndrome
Hyperactivity ORPHA:75858
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Hereditary Fructose Intolerance
Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:289157
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Pal... ORPHA:79102
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia OMIM:246400
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... ORPHA:90041
Acute Promyelocytic Leukemia
Leukocytosis, Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombo... ORPHA:520
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Arrhythmia, Hypotension, Hyperphosphatemia, Congestive heart failure ORPHA:428
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hy... ORPHA:95409
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypercalcemia, Hypermagnesemia OMIM:600740
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Intracranial hemorrhage OMIM:241500
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc... ORPHA:79096
Chediak-Higashi Syndrome
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... OMIM:214500
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Elevated circulati... ORPHA:466650
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... OMIM:277410
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Mastocytosis
Telangiectasia of the skin, Splenomegaly, Arrhythmia, Hypotension, Mastocytosis, Chronic leukemia... ORPHA:98292
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Steatorrhea, Refractor... OMIM:557000
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Tricuspid regurgitation, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy... ORPHA:508542
Felty Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Pericarditis, Neutropenia, Anemia, Thrombocytopenia ORPHA:47612
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Transcobalamin Ii Deficiency
Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia OMIM:275350
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia OMIM:618476
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Cartilage-Hair Hypoplasia
Hypocalcemia, Neutropenia, Heart block, Anemia, Cardiomyopathy ORPHA:175
Double Outlet Right Ventricle
Pulmonic stenosis, Tachycardia, Hypocalcemia, Heart murmur ORPHA:3426
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ta... ORPHA:91547
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Lymphopenia, Cerebral ischemia, Thrombocytopenia, Pancytopenia, Pulmon... OMIM:242900
Mccune-Albright Syndrome
Hypophosphatemia, Primary hypercortisolism, Increased circulating cortisol level, Pancytopenia ORPHA:562
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Hypertrophic cardiomyopathy, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia, Thro... OMIM:617303
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Infection associated neutropenia, Cardiomyopathy, Neutropenia ORPHA:445038
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia, Intracranial hemorrhage, Heart murmur, Anemia, Thrombocytopenia ORPHA:163979
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... OMIM:603909
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Propionic Acidemia
Hypoglycemia, Arrhythmia, Cardiomyopathy, Hyperammonemia ORPHA:35
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Intraventricular h... ORPHA:79284
Glycogen Storage Disease Ib
Hyperlipidemia, Splenomegaly, Hypoglycemia, Hyperuricemia, Neutropenia, Hypertension, Xanthelasma OMIM:232220
Shwachman-Diamond Syndrome 1
Steatorrhea, Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Ac... OMIM:260400
Ethylene Glycol Poisoning
Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... ORPHA:31826
Osteopetrosis With Renal Tubular Acidosis
Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, Pulmonary arterial ... ORPHA:2785
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Tempi Syndrome
Polycythemia, Intracranial hemorrhage, Telangiectasia, Increased hematocrit ORPHA:284227
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia, Splenomegaly, Anemia, Pulmonary arterial hypertension ORPHA:667
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Hepatocellular Carcinoma
Budd-Chiari syndrome, Type II diabetes mellitus, Hyperbilirubinemia, Hypokalemia, Polycythemia, H... ORPHA:88673
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... OMIM:171420
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Dent Disease 1
Hypophosphatemia, Glycosuria OMIM:300009
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Prolonged QT interval, Hypocalc... ORPHA:79444
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... ORPHA:3337
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Tachycardia, H... ORPHA:90051
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... ORPHA:231214
Fibrous Dysplasia Of Bone
Hypophosphatemia, Diabetes mellitus, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Cerebral vasculi... OMIM:613179
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hyperammonemia, Splenomegaly ORPHA:664
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Histidinemia
Hyperactivity ORPHA:2157
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... OMIM:615952
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly ORPHA:1655
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic sy... ORPHA:230
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Neutropenia, Neonatal hypoglycemia, Thrombocytopenia, Congestive heart failure OMIM:616271
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612562
Addison Disease
Decreased circulating cortisol level, Orthostatic hypotension, Normocytic anemia, Hypotension, In... ORPHA:85138
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Pulmonic stenosis, Mitral regurgitation, Hypoplasia of the thymus, Mon... OMIM:612541
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricemia, Ga... OMIM:229600
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hematemesis, Recurrent intrapulmonary hemorrhage, Hy... ORPHA:906
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Aplastic anemia, Pancytopenia, Dilated cardiomyopathy, Neutropenia, Thrombocytopenia OMIM:613989
Alport Syndrome 3, Autosomal Dominant
Hypertension, Azotemia, Hypophosphatemia OMIM:104200
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypertension, Prolonged QT inte... ORPHA:79443
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoglycemia, Unconjugated hyperbilirubinemia, Portal hypertension, Pancytopenia, H... OMIM:613658
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Subdural hemorrhage, Hyperammonemia, Hypomethioninemia, Elevated circulatin... ORPHA:79282
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Acquired Methemoglobinemia
Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope ORPHA:464453
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia, Telang... OMIM:604173
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... ORPHA:54251
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... OMIM:614700
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Splenomegaly, Glycosuria... OMIM:219800
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Hyperphosphatemia OMIM:614207
Infantile Nephropathic Cystinosis
Abnormal blood ion concentration, Hypophosphatemia, Glycosuria, Hypokalemia ORPHA:411629
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hyperalaninemia, Hypertrophic cardiomyopathy, Arrhythmia, Neutropenia OMIM:615471
Immunodeficiency 23
Lymphopenia, Vasculitis in the skin, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Hypoglycemi... ORPHA:79259
Cartilage-Hair Hypoplasia
Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... OMIM:250250
Hemorrhagic Fever-Renal Syndrome
Melena, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotensio... ORPHA:340
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Cerebral hemorrhage, B lymphocytopenia, Neutropenia OMIM:301081
Fanconi Anemia, Complementation Group E
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:600901
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Methylmalonic aci... OMIM:277400
Glycogen Storage Disease Ixc
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly OMIM:613027
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Infantile hypercalcemia, Aortic valve stenosis OMIM:143880
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Mody
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... ORPHA:552
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... ORPHA:124
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hypotension, Hypoglycemic seizures, Hyponatremia, Neonatal ... ORPHA:199296
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Fanconi Anemia, Complementation Group A
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227650
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:99880
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Aspergillosis
Eosinophilia, Intracranial hemorrhage, Neutropenia ORPHA:1163
Opsismodysplasia
Hypophosphatemia OMIM:258480
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Abnormal left ventricular function, Hypocalcemia, H... OMIM:619991
Shwachman-Diamond Syndrome 2
Steatorrhea, Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Tricuspid regurgitation, Steatorrhea, Aortic regurgitation, Neutropenia, Anemia, Acute myeloid le... OMIM:601347
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Leigh Syndrome
Hypoglycemia, Neutropenia, Hyperalaninemia, Anemia, Hypertrophic cardiomyopathy, Congestive heart... ORPHA:506
Parathyroid Carcinoma
Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:143
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyperaldosteronism, Hyponatremia, Hypercholesterole... ORPHA:534
Visceral Steatosis, Congenital
Hypoglycemia, Hypocalcemia OMIM:228100
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... ORPHA:83471
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Arrhythmia, Hypoglycemia, Transient hyperlipidemia, Hypertrophic cardiomyop... ORPHA:156
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Absent plat... OMIM:608233
Kasabach-Merritt Syndrome
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... ORPHA:2330
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Somatostatinoma
Increased circulating cortisol level, Steatorrhea, Hypochromic microcytic anemia, Hypercalcemia, ... ORPHA:97283
Mirage Syndrome
Lymphopenia, Leukopenia, Intracranial hemorrhage, Hypoglycemia, Hypoplastic spleen, Hyponatremia,... OMIM:617053
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Neutropenia OMIM:618005
Glucagonoma
Increased circulating cortisol level, Steatorrhea, Acanthocytosis, Hypercalcemia, Diabetes mellit... ORPHA:97280
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus ORPHA:2237
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... OMIM:619644
Fanconi Anemia, Complementation Group C
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia OMIM:227645
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly OMIM:308230
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:614736
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, Abnormal neutro... ORPHA:3226
Raine Syndrome
Hypophosphatemia OMIM:259775
Staphylococcal Necrotizing Pneumonia
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Hy... ORPHA:36238
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... OMIM:212138
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis ORPHA:1930
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Splenomegaly ORPHA:2136
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... ORPHA:97214
Rothmund-Thomson Syndrome
Telangiectasia of the skin, Aplastic anemia, Neutropenia, Calcinosis, Anemia, Leukemia ORPHA:2909
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Multiple Myeloma
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia ORPHA:29073
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Vipoma
Hypokalemia, Increased circulating cortisol level, Hypercalcemia, Diabetes mellitus, Normochromic... ORPHA:97282
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia, Dilated cardiomyopathy ORPHA:261250
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... OMIM:171300
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Hypoadrenocorticism, Familial
Hypoglycemia, Hyperkalemia, Hyponatremia OMIM:240200
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Hyperphosphatemia, Diabetes mellitus ORPHA:280651
Rothmund-Thomson Syndrome Type 1
Anemia, Aplastic anemia, Neutropenia, Calcinosis, Telangiectasia, Leukemia ORPHA:221008
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Dent Disease
Elevated circulating creatine kinase concentration, Glycosuria, Renal hypophosphatemia ORPHA:1652
22Q11.2 Deletion Syndrome
Hypocalcemia, Splenomegaly, Corneal neovascularization, Hypoplasia of the thymus, Hypertensive cr... ORPHA:567
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791