Gene Summary

Name:
testis expressed gene 261
Synonyms:
TEG-261,  3110001O07Rik

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
increased circulating alanine transaminase level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 2.89×10-13
increased circulating aspartate transaminase level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 6.23×10-08
decreased total body fat amount Tex261tm1b(EUCOMM)Wtsi HOM Early adult 2.11×10-05
decreased hemoglobin content Tex261tm1b(EUCOMM)Wtsi HOM   Early adult 5.27×10-06
increased red blood cell distribution width Tex261tm1b(EUCOMM)Wtsi HOM   Early adult 8.60×10-08
decreased circulating HDL cholesterol level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 5.04×10-13
increased bone mineral density Tex261tm1b(EUCOMM)Wtsi HOM Early adult 1.25×10-06
decreased circulating serum albumin level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 1.93×10-05
increased lean body mass Tex261tm1b(EUCOMM)Wtsi HOM Early adult 7.83×10-07
decreased circulating cholesterol level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 5.45×10-11
increased circulating alkaline phosphatase level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 1.69×10-08
decreased circulating calcium level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 6.37×10-07
increased leukocyte cell number Tex261tm1b(EUCOMM)Wtsi HOM Early adult 4.21×10-06
decreased circulating LDL cholesterol level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 5.33×10-06
decreased circulating fructosamine level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 4.66×10-09
decreased circulating total protein level Tex261tm1b(EUCOMM)Wtsi HOM Early adult 2.38×10-05
increased bone mineral content Tex261tm1b(EUCOMM)Wtsi HOM Early adult 5.72×10-08

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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.

Legacy Phenotype Associated Images

View all 15 images

Human diseases caused by Tex261 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 Tex261 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Osteoporosis, Abnormal splee... ORPHA:398063
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis... OMIM:616000
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Splenomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Chylomicron Retention Disease
Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia, Hypocholesterolemia, Steatorrhea, Decrea... OMIM:246700
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Generalized ... OMIM:612526
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Failure to thrive, Hypocalcemia, Splenomegaly ORPHA:172
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, Failure to thrive,... OMIM:603554
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Salmonella... OMIM:209950
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Albers-Schönberg Osteopetrosis
Recurrent fractures, Hypocalcemia, Osteoarthritis, Abnormal leukocyte morphology, Anemia, Osteomy... ORPHA:53
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:616050
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia, Osteopenia OMIM:619073
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Tooth abscess, Osteomalacia, Iron deficiency anemia, Hypophosphatemia, Rickets ORPHA:89937
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... ORPHA:507
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Hypocalcemia, Splenomegaly, Anemi... OMIM:259700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Hypoalbuminemia, Camptodactyly, Thrombocytopenia OMIM:608104
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Decreased body... ORPHA:247585
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Hypocalcemia, Decreased skull ossification, Hypocalcemic tetany, Cortical ... ORPHA:93324
Buschke-Ollendorff Syndrome
Connective tissue nevi, Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Abnormal adipose tissue... ORPHA:93160
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Decreased skull ossification, Anemia, Hypomagnesemia, Calvarial osteosclerosis OMIM:244460
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Bone cyst, Hypercalcemia ORPHA:2668
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture OMIM:608093
X-Linked Agammaglobulinemia
Cellulitis, Recurrent cutaneous abscess formation, Arthritis, Hypocalcemia, Neutropenia, Anemia, ... ORPHA:47
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, H... ORPHA:94089
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Acute myeloid leukemia, Abnormal mean c... ORPHA:86839
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia ORPHA:163693
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hyperphosphatemia, Hypocalce... ORPHA:36913
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hyperbilirub... ORPHA:71275
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Abnormality of neutrophil morph... ORPHA:86841
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... OMIM:615631
Isolated Osteopoikilosis
Keloids, Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Scle... ORPHA:166119
Johanson-Blizzard Syndrome
Anemia, Failure to thrive, Hypoproteinemia ORPHA:2315
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... OMIM:224120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia OMIM:208920
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypocholesterolemia, Rickets, Steatorrhea OMIM:607765
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Hypertriglyceridemia, Gout OMIM:610947
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Hypoproteinemia, Splenomegaly OMIM:235255
Hypophosphatasia
Craniosynostosis, Recurrent fractures, Failure to thrive in infancy, Hypercalcemia, Anemia ORPHA:436
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Small for gestational age, Increased bone mineral density, Thickened ... OMIM:127000
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Hypoalbuminemia, T... ORPHA:292
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hepato... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Osteopenia, Thrombocytosis, Abnormal subcutaneous fat tissue distribution, F... OMIM:212065
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Sparse bone trabeculae, Enamel hypoplasia, Hypocalcemia, Increased suscept... ORPHA:289157
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholester... ORPHA:247598
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Anemia, Hypoalbuminemia, Liver abscess, Weight loss ORPHA:67
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, P... ORPHA:29073
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Th... ORPHA:848
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231226
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Anemia, Cachexia, Hypomagnesemia OMIM:175500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Inguinal hernia ORPHA:1655
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, Gout, Obesity, Inc... ORPHA:90041
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... ORPHA:540
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Acanthocytosis, Elevated circulating creatine kinase... ORPHA:96180
Melorheostosis
Joint stiffness, Increased bone mineral density, Atypical scarring of skin, Failure to thrive, Ec... ORPHA:2485
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Cellulitis, Elevated circulating creatinine concentrat... ORPHA:36234
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Thrombocytosis, Hypocalcemia, Osteoporosis, Iron deficiency anemia, Failure to... OMIM:212750
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Decreased skull ossification, Failure to thrive, Asplenia OMIM:602361
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypercalcemia, Infantile hypercalcemia, Chondrocalcinosis, ... ORPHA:99879
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis ORPHA:37748
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis OMIM:618476
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Abetalipoproteinemia
Osteopenia, Hypotriglyceridemia, Acanthocytosis, Decreased HDL cholesterol concentration, Anemia,... ORPHA:14
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Rhabdoid Tumor
Anemia, Thrombocytopenia, Weight loss, Hypercalcemia ORPHA:69077
Juvenile Polyposis Syndrome
Anemia, Failure to thrive, Hypokalemia, Hypoalbuminemia OMIM:174900
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia OMIM:606407
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Congenital Erythropoietic Porphyria
Scarring, Reticulocytosis, Increased erythrocyte protoporphyrin concentration, Leukopenia, Poikil... ORPHA:79277
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Failure to thriv... ORPHA:37042
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased body weight, Flexion contracture, Atypical scarring of skin, Decr... ORPHA:89842
Oculocerebrodental Syndrome
Hypocalcemia, Hypercalcemia, Enamel hypoplasia ORPHA:557003
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Flexion contracture, Splenomegaly, Neutropenia, Anemia, Hypoalbuminemia, Thrombocytop... OMIM:617303
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Hypocalcemia, Splenomegaly, Elbow flexion contracture OMIM:618440
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Hepatosplenomegaly, Hypoalbuminemia, Flexion contracture ORPHA:367
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology ORPHA:2238
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Colchicine Poisoning
Hypokalemia, Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypocalcemia, Hypophos... ORPHA:31824
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Timothy Syndrome
Hypocalcemia OMIM:601005
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Osteoporosis, Anemia, Failure to thrive, Hemolytic anemia, Hypoalbuminemia, W... OMIM:619487
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Congenital Disorder Of Glycosylation, Type Iip
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... OMIM:616829
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypocalcemia, Increased susceptibility to fractures, Pathologic f... ORPHA:352540
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Hyperostosis cranialis interna, Thromb... OMIM:231095
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Decreased calvarial ossification, Craniosynostosis, Hypercalcemia,... OMIM:241500
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia, Calvarial osteosc... OMIM:617994
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Osteopenia, Increased bone mineral density, Recurrent fractures, Osteoporosis, Hype... OMIM:239000
Alg12-Cdg
Hyponatremia, Abnormal bone ossification, Failure to thrive, Abnormal adipose tissue morphology, ... ORPHA:79324
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Osteopenia, Small for gestational age, Slender build, Joint laxity, Hypocalcemia, T... OMIM:613658
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Failure to thrive, Chronic hemolytic anemia, Hemo... OMIM:618278
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Recurrent fractures, Hypocalcemia, Elevated circulating creatine kinase... ORPHA:2785
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Avian Influenza
Leukopenia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine ... ORPHA:454836
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, Elevated c... ORPHA:94093
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Increased bone mineral density,... ORPHA:77297
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity, Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, Splenomegaly, Osteoporosis, Increased susceptibilit... ORPHA:231222
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Enamel hypoplasia, Anemia, Failure to thrive, Hypoalbuminemia, Scarring, Atroph... ORPHA:79396
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hypervitaminosis A, Susceptibility To
Hypercalcemia OMIM:240150
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, Hypocalcemia, Obesity, ... ORPHA:79444
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Recurrent fractures, Hypercalcemia, Increased blood urea nitrogen, Obesity, Abn... ORPHA:251004
Infantile Myofibromatosis
Hypercalcemia, Chondrocalcinosis, Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Cachexia, Hy... OMIM:610965
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia OMIM:615085
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Small for gestational age OMIM:607143
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemia, Hypoalbumin... ORPHA:88673
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Osteoporosis, Joint hypermobility, Umbilic... OMIM:614856
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Al Amyloidosis
Howell-Jolly bodies, Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Weig... ORPHA:85443
Insulin-Resistance Syndrome Type B
Decreased body weight, Weight loss, Leukopenia, Abnormal circulating lipid concentration, Hypotri... ORPHA:2298
Cinca Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentra... OMIM:607115
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Hypocalcemia, Splenomegaly, Anemia, Osteopetrosis, Reduced... ORPHA:667
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, Hypocalcemia, Obesity, ... ORPHA:79443
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Arthritis, Splenomegaly OMIM:611762
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia ORPHA:1563
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... OMIM:619055
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Leukopenia, Flexion contracture, Joint stiffness, Hernia, Anemia, Hypoalbumin... ORPHA:505248
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Hypercalcemia, Splenomegaly, Anemia, Failure to thrive, Calcinosis, Hypophos... OMIM:239200
Autosomal Dominant Hypocalcemia
Reduced bone mineral density, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Anemia, Cachexia, Hypoalbuminemia, Refractory anemia ORPHA:79076
Trichohepatoenteric Syndrome 1
Small for gestational age, Thrombocytosis, Hypermethioninemia, Abnormality of iron homeostasis, F... OMIM:222470
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Atypical scarring of... ORPHA:1306
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Generalized bone demineralization, ... ORPHA:199299
Galloway-Mowat Syndrome 3
Camptodactyly, Failure to thrive, Hypoalbuminemia, Hiatus hernia OMIM:617729
Cartilage-Hair Hypoplasia
Hypocalcemia, Abnormal bone ossification, Neutropenia, Anemia, Failure to thrive, Limited elbow e... ORPHA:175
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration, Arthritis OMIM:120100
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Mastocytosis
Chronic leukemia, Mastocytosis, Recurrent fractures, Hypercalcemia, Splenomegaly, Osteoporosis, A... ORPHA:98292
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Osteomalacia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Osteopetrosis, Reticulocytosis, Th... OMIM:611490
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Tangier Disease
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic seizures, Decreased skull ossification, Anemia, Hyperphosphatemia, Hypocalcemic teta... ORPHA:93325
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Osteopenia, Weight loss, Hypercalcemia ORPHA:97289
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:618858
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Increased bone mineral density, Osteopenia, Splenomegaly, Osteoarthriti... ORPHA:77259
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Orotic Aciduria
Poikilocytosis, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimi... OMIM:258900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Hypoalbuminemia, Camptodactyly, Umbilical hernia, Joint contracture of ... OMIM:235510
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Arthritis, Elevated circulating C-reactive protein concentration, An... ORPHA:324964
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Extramedullary hematopoiesis OMIM:612840
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Enamel hypoplasia, Thin bony ... OMIM:264700
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Knee flexion contracture, Hip contracture, Pathologic fracture, Hypoph... OMIM:156400
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Small for gestational age, Hypocalcemia, Splenomeg... ORPHA:699
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Arthritis, Decreased proportion of naive T cells, Elevated circulating C-react... OMIM:619381
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Anemia, Hyperbilirubinemia, Hyperextensibility of the finger joints, Thrombocytopenia ORPHA:163979
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Osteomalacia, Lipoma, Chondrocalci... ORPHA:405
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Leukocytosis, Hyperkalemia, Hypocalcemia, Hemolytic anemia, Septic arthritis, Throm... ORPHA:544482
Galloway-Mowat Syndrome 1
Hiatus hernia, Small for gestational age, Hypoalbuminemia, Camptodactyly, Joint contracture of th... OMIM:251300
Hypercalcemia, Infantile, 1
Failure to thrive, Infantile hypercalcemia, Weight loss OMIM:143880
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Neutrophilia, Elevated circulating C-r... OMIM:617099
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis,... OMIM:166600
Cinca Syndrome
Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration, Abnormality of... ORPHA:1451
Juvenile Polyposis Syndrome
Multiple lipomas, Hypoproteinemia, Anemia, Failure to thrive, Rectocele, Brain abscess ORPHA:2929
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age OMIM:606176
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Sparse bone trabeculae, Recurrent fractures, Enamel hypoplasia, Thin bony ... OMIM:277440
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Generalized bo... ORPHA:85138
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Sclerosis of skull base, Red... OMIM:131300
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia, Weight loss ORPHA:517
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Chondrocalcinosis, Hypermagnesemia, Hypercalcemia OMIM:145981
Gaucher Disease
Pancytopenia, Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, A... ORPHA:355
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Fibrous Dysplasia Of Bone
Cortical irregularity, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal bone structure, Os... ORPHA:249
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Pierson Syndrome
Hypoproteinemia OMIM:609049
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia... ORPHA:466650
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Osteopenia, Osteoporosis, Splenomegaly, Hypoalbuminemia, Weight loss ORPHA:171
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Gout, Iron deficiency anemia, Failure to thrive, Chondrocalcinosis, Hy... ORPHA:358
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
X-Linked Hypophosphatemia
Cellulitis, Craniosynostosis, Arthritis, Limitation of joint mobility, Odontodysplasia, Vertebral... ORPHA:89936
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany ORPHA:73224
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231214
Pseudo-Torch Syndrome 3
Congenital thrombocytopenia, Increased circulating ferritin concentration, Leukocytosis, Anemia OMIM:618886
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Muckle-Wells Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:191900
Hypophosphatemic Rickets
Periapical tooth abscess, Joint stiffness, Hypercalcemia, Craniofacial osteosclerosis, Fibrous dy... ORPHA:437
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia ORPHA:94080
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Osteopenia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increas... OMIM:601678
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis OMIM:612301
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Oligoarthritis OMIM:614204
Hennekam Syndrome
Craniosynostosis, Hypocalcemia, Splenomegaly, Camptodactyly of finger, Lymphopenia ORPHA:2136
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Hyponatremia ORPHA:1930
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Arthrogryposis multiplex congenita, Abnormal circu... OMIM:602398
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Failu... ORPHA:83471
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, ... OMIM:618620
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Hypocalcemia, Osteoporosis, Sagittal craniosynostosis OMIM:218330
Velocardiofacial Syndrome
Inguinal hernia, Hypocalcemia, Umbilical hernia OMIM:192430
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Poems Syndrome
Lipodystrophy, Sclerosis of foot bone, Thrombocytosis, Sclerosis of hand bone, Sclerosis of skull... ORPHA:2905
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Craniofacial hyperostosis, Abnormal dental e... ORPHA:1782
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Neutrophilia, Elevated circulating C-reac... ORPHA:829
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Pycnodysostosis
Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, ... ORPHA:763
Raine Syndrome
Hypophosphatemia, Increased bone mineral density, Arthrogryposis multiplex congenita, Enamel hypo... OMIM:259775
Schwartz-Jampel Syndrome
Decreased body weight, Joint stiffness, Increased bone mineral density, Osteoporosis, Elevated ci... ORPHA:800
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density, Enamel hypomineralization, Dental ename... ORPHA:3352
22Q11.2 Deletion Syndrome
Umbilical hernia, Multiple suture craniosynostosis, Hypocalcemia, Obesity, Splenomegaly, Inguinal... ORPHA:567
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Craniofacioskeletal Syndrome
Hypocalcemia OMIM:300712
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Trichothiodystrophy
Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral density, Enamel... ORPHA:33364
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Osteopor... ORPHA:98850
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Osteoporosis, Lipoma, Chondrocalcinosis, Hypophosphatemia... ORPHA:143
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Vipoma
Hypokalemia, Subcutaneous lipoma, Hypercalcemia, Normochromic anemia, Weight loss, Increased circ... ORPHA:97282
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Failure to thrive in infancy, Fl... OMIM:610377
Sweet Syndrome
Sterile abscess, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:3243
Somatostatinoma
Subcutaneous lipoma, Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Increased circula... ORPHA:97283
Glucagonoma
Subcutaneous lipoma, Hypercalcemia, Acanthocytosis, Normochromic anemia, Weight loss, Increased c... ORPHA:97280
Erdheim-Chester Disease
Increased bone mineral density, Xanthelasma, Anemia, Osteomyelitis, Osteolysis, Weight loss ORPHA:35687
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Irregular ossification at anteri... OMIM:260400
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Osteopetrosis, Extramedul... OMIM:259730
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Osteopenia, Increased bone mineral density ORPHA:85184
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Osteoporosis, Lipoma, Chondrocalcinosis, Hypophosphatemia ORPHA:99880
Acrodysostosis With Multiple Hormone Resistance
Hypocalcemia, Obesity, Hyperphosphatemia ORPHA:280651
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Osteopenia, Hypercalcemia, Obesity, Joint hypermobility, Hypertriglyceridemia ORPHA:369837
Desmosterolosis
Osteopetrosis, Failure to thrive, Splenomegaly, Increased bone mineral density ORPHA:35107
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Splenomegaly, Increased susceptibility to fractures... ORPHA:77261
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Hyperoxaluria, Primary, Type I
Pathologic fracture, Hyperoxaluria, Increased bone mineral density OMIM:259900
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Failure to thrive, Flexion contracture, HbH hemoglobin ORPHA:98791
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Digeorge Syndrome
Hypocalcemia, Obesity, Splenomegaly, Femoral hernia, Inguinal hernia, Anemia, Hypoplasia of the t... OMIM:188400
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Visceral Steatosis, Congenital
Hypocalcemia OMIM:228100
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Primary Hyperoxaluria Type 1
Abnormality of circulating enzyme level, Anemia, Failure to thrive, Calcinosis, Hyperoxaluria ORPHA:93598
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Diamond-Blackfan Anemia 6
Tracheomalacia, Failure to thrive, Increased mean corpuscular volume, Macrocytic anemia, Persiste... OMIM:612561
Atypical Werner Syndrome
Decreased body weight, Increased bone mineral density, Sclerosis of hand bone, Osteoporosis, Gene... ORPHA:79474
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia ORPHA:276621
Lead Poisoning
Cranial hyperostosis, Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Increas... ORPHA:330015
Werner Syndrome
Lipodystrophy, Joint stiffness, Increased bone mineral density, Slender build, Osteoporosis, Lipo... ORPHA:902
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hepatosplenomegaly, Flexion contracture, Enamel hypoplasia, Joint laxity, Hypocalcemia, Reduced s... OMIM:619503
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Increased circulating cortisol level, Hypercalcemia OMIM:131100
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Hypercalcemia ORPHA:476126
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis, Abnormality of the spleen ORPHA:94063
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis OMIM:167250
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Failure to thrive, Hypocholesterolemia, Elevated 7-dehydrocholesterol OMIM:270400
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Monosomy 13Q34
Obesity, Infantile hypercalcemia ORPHA:96168
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Omphalocele, Failu... ORPHA:90652
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Tropical Endomyocardial Fibrosis
Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia ORPHA:75565
Ppoma
Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97278
Zollinger-Ellison Syndrome
Multiple lipomas, Hypercalcemia, Lipoma, Weight loss, Increased circulating cortisol level ORPHA:913
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of calv... OMIM:601376
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Increased bone mineral density, Femoral hernia, Facial hyperostosis, Inguin... ORPHA:2658
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Primary Hyperoxaluria
Recurrent fractures, Failure to thrive, Generalized osteosclerosis, Hyperoxaluria ORPHA:416
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Hypercalcemia ORPHA:29072
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Elevated circulating ... OMIM:615688
Pheochromocytoma
Hypercalcemia OMIM:171300
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Grfoma
Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97261
Familial Mediterranean Fever
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:249100
Pmm2-Cdg
Lipodystrophy, Osteopenia, Multiple joint contractures, Impaired neutrophil chemotaxis, Joint lax... ORPHA:79318
Urachal Cyst
Leukocytosis, Elevated circulating C-reactive protein concentration, Abscess ORPHA:488
Johanson-Blizzard Syndrome
Small for gestational age, Joint laxity, Hypocalcemia, Failure to thrive, Increased VLDL choleste... OMIM:243800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin