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Gene: Arhgef4 MGI:2442507

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Gene Summary

Name:
Rho guanine nucleotide exchange factor (GEF) 4
Synonyms:
Asef,  C230030N03Rik,  9330140K16Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased mature B cell number Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.38×10-05
decreased circulating serum albumin level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 3.25×10-07
abnormal behavior Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.54×10-08
increased circulating calcium level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 4.15×10-06
decreased body weight Arhgef4tm1a(KOMP)Wtsi HOM   Early adult 7.11×10-07
increased circulating free fatty acids level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 3.94×10-06
decreased circulating cholesterol level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.97×10-05
increased circulating total protein level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 5.09×10-07
decreased bone mineral density Arhgef4tm1a(KOMP)Wtsi HOM Early adult 6.99×10-06
decreased circulating HDL cholesterol level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.30×10-07
increased circulating alkaline phosphatase level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.01×10-06
increased bone mineral density Arhgef4tm1a(KOMP)Wtsi HOM Early adult 3.16×10-06
decreased total body fat amount Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.04×10-05
decreased T cell number Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.32×10-05
increased lean body mass Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.18×10-08
abnormal response to tactile stimuli Arhgef4tm1a(KOMP)Wtsi HOM Early adult 6.20×10-07
decreased circulating free fatty acids level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.65×10-05
increased circulating aspartate transaminase level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 4.29×10-05
abnormal vibrissa morphology Arhgef4tm1a(KOMP)Wtsi HOM Early adult 7.77×10-06
decreased circulating triglyceride level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 5.39×10-12
decreased blood urea nitrogen level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.15×10-05
decreased hemoglobin content Arhgef4tm1a(KOMP)Wtsi HOM Early adult 6.55×10-05
increased lactate dehydrogenase level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 9.04×10-05

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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
Arhgef4tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Arhgef4tm1a(KOMP)Wtsi
head, HOM, Male, WTSI
Arhgef4tm1a(KOMP)Wtsi
forearm, HOM, Male, WTSI
Arhgef4tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Arhgef4tm1a(KOMP)Wtsi
body, HOM, Male, WTSI

View all 68 images

Arhgef4tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Arhgef4 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 Arhgef4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Hypercholesterolemia, Osteoporosis... OMIM:616000
Gaisböck Syndrome
Hypercholesterolemia, Increased circulating renin level, Increased hematocrit, Gout, Obesity, Inc... ORPHA:90041
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Intention tremor, Splenomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocy... OMIM:610539
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnor... ORPHA:158048
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Failure to thrive, Hypoalbuminemia,... OMIM:246700
Multiple Myeloma
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, P... ORPHA:29073
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Osteoporosis, Abnormal splee... ORPHA:398063
Mandibuloacral Dysplasia
Reduced intrathoracic adipose tissue, Hypercholesterolemia, Increased subcutaneous truncal adipos... ORPHA:2457
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia, Salmonella... OMIM:209950
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Hypoalbuminemia ORPHA:88643
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Elevated circulating C-reactive prote... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Hypophosphatasia
Craniosynostosis, Recurrent fractures, Hypercalcemia, Failure to thrive in infancy, Anemia ORPHA:436
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Generalized ... OMIM:612526
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, Failure to thrive,... OMIM:603554
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Elevated circulating C-reactive p... ORPHA:158061
Adamantinoma
Hypercalcemia, Pathologic fracture ORPHA:55881
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Bone cyst, Hypercalcemia ORPHA:2668
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Anemia, Hypoalbuminemia, ... ORPHA:507
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia, Flexion contracture OMIM:615883
Rhabdoid Tumor
Anemia, Thrombocytopenia, Weight loss, Hypercalcemia ORPHA:69077
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Failure to thrive, Hypoalbuminemia, Camptodactyly, Thrombocytopenia OMIM:608104
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Hypoal... ORPHA:2070
Congenital Analbuminemia
Lipodystrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypercholesterolemia, ... ORPHA:86816
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Failure to thrive, Hypocalcemia, Splenomegaly ORPHA:172
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia, Abnormal hair quantity ORPHA:1116
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukop... OMIM:603553
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Failure to thrive in infancy, Hypoalbuminemia OMIM:618805
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoalbuminemia OMIM:617156
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Small for gestational age, Hypocalcemia, Obesity, Overweight, Elevated circulati... ORPHA:26793
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
Lymphangiectasia, Intestinal
Abnormal hair morphology, Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Osteoporosis, Steatorrhea OMIM:266510
Nephrotic Syndrome, Type 1
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Decreased calvarial ossification, Craniosynostosis, Hypercalcemia,... OMIM:241500
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Dystonia, Hypercholesterolemia, Head tremor, Elevated circulating cre... ORPHA:64753
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Tremor, Dystonia, Hypoalbuminemia, Hypercholesterolemia OMIM:208920
D-Glyceric Aciduria
Hyperglycinemia, Increased circulating free fatty acid level, Nonketotic hyperglycinemia ORPHA:941
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Osteopenia, Hypercalcemia, Infantile hypercalcemia, Chondrocalcinosis, ... ORPHA:99879
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatine kinase, Abnormal ... ORPHA:71212
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Anemia, Hypoalbumine... ORPHA:90362
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia DECIPHER:16
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Buschke-Ollendorff Syndrome
Connective tissue nevi, Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Hypercalcemia, Infantile, 2
Failure to thrive, Hypophosphatemia, Hypercalcemia OMIM:616963
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Failure to thrive, Hypocholesterolemia, Decreased LDL ch... OMIM:616834
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Decrea... ORPHA:247585
Paternal Uniparental Disomy Of Chromosome 1
Craniosynostosis, Recurrent fractures, Hypercalcemia, Increased blood urea nitrogen, Obesity, Abn... ORPHA:251004
Hypervitaminosis A, Susceptibility To
Alopecia totalis, Hypercalcemia OMIM:240150
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Squalene Synthase Deficiency
Elevated circulating methylsuccinic acid concentration, Increased circulating farnesol concentrat... OMIM:618156
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circulating protein conc... ORPHA:103910
Infantile Myofibromatosis
Hypercalcemia, Abnormal hair morphology, Chondrocalcinosis, Bone cyst, Osteolysis, Limitation of ... ORPHA:2591
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Craniosynostosis, Increased bone mineral density, Hypocalcemia, Splenomegaly, Osteo... OMIM:259700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmu... OMIM:615559
Galloway-Mowat Syndrome 6
Decreased body weight, Hypoalbuminemia OMIM:618347
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Flexion contracture, Thrombocytosis, Abnormal subcutaneous fat tissue distribution, F... OMIM:212065
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Thymic Neuroendocrine Tumor
Increased circulating cortisol level, Osteopenia, Weight loss, Hypercalcemia ORPHA:97289
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypocholesterolemia, Rickets, Steatorrhea OMIM:607765
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Generalized bone demineralization, ... ORPHA:199299
Ménétrier Disease
Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Hypophosphatemia, Ric... OMIM:241520
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholester... ORPHA:247598
Isolated Osteopoikilosis
Keloids, Joint stiffness, Abnormal pelvis bone ossification, Increased bone mineral density, Scle... ORPHA:166119
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Osteoporosis, Hypertriglyceridemia, Gout OMIM:610947
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Increased bone density with cystic changes, Oste... OMIM:136300
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia OMIM:109130
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:232700
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Hypocalcemia, Splenomegaly, Low anterior hairline, Elbo... OMIM:618440
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Blue Diaper Syndrome
Hyperphosphatemia, Increased body weight, Hypercalcemia ORPHA:94086
Melorheostosis
Joint stiffness, Increased bone mineral density, Atypical scarring of skin, Ectopic ossification ... ORPHA:2485
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Metacarpal periosteal thickening, Hyperphosphatemia, Calvarial osteosc... OMIM:617994
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia... ORPHA:540
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia OMIM:602579
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased body weight, Acanthocytosis, Elevated circulating creatine kinase... ORPHA:96180
Albers-Schönberg Osteopetrosis
Recurrent fractures, Hypocalcemia, Osteoarthritis, Generalized osteosclerosis, Osteomyelitis, Man... ORPHA:53
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Hypercalcemia, Splenomegaly, Anemia, Failure to thrive, Calcinosis, Hypophos... OMIM:239200
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia, Tremor ORPHA:94080
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyp... ORPHA:1667
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... ORPHA:567548
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Generalized bo... ORPHA:85138
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Coarse hair, Leukopenia, Long eyelashes, Bone marrow hypocellularity, Spleno... OMIM:617303
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, Hyperkalemia, ... ORPHA:95409
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Melorheostosis With Osteopoikilosis
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hypermethioninemia, Elevated circulating creatine kinase concentration, Abno... ORPHA:88618
Hypercalcemia, Infantile, 1
Failure to thrive, Infantile hypercalcemia, Weight loss OMIM:143880
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia, Osteopenia OMIM:619073
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, H... ORPHA:94089
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone marrow hypocellularity, Acute myel... ORPHA:86839
Abetalipoproteinemia
Osteopenia, Hypotriglyceridemia, Acanthocytosis, Decreased HDL cholesterol concentration, Anemia,... ORPHA:14
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Neutropenia, Anemia, Hypoalbuminemia, T... ORPHA:292
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Oculocerebrodental Syndrome
Abnormality of the frontal hairline, Hypocalcemia, Hypercalcemia, Enamel hypoplasia ORPHA:557003
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Failure to thriv... ORPHA:37042
Chylomicron Retention Disease
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture, Tremor OMIM:608093
Alpha-Heavy Chain Disease
Anemia, Hypocalcemia, Splenomegaly, Alopecia ORPHA:100025
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Thickened cortex of bones ORPHA:564003
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
X-Linked Agammaglobulinemia
Cellulitis, Recurrent cutaneous abscess formation, Weight loss, Hypocalcemia, Neutropenia, Osteom... ORPHA:47
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Dystonia, Osteoporosis, Anemia, Failure to thrive, Hemolytic anemia, Hypoalbu... OMIM:619487
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Alg12-Cdg
Hyponatremia, Abnormal bone ossification, Abnormal adipose tissue morphology, Failure to thrive, ... ORPHA:79324
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Cellulitis, Elevated circulating creatinine concentrat... ORPHA:36234
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Osteopenia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increas... OMIM:601678
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Hypoalbuminemia, Periostosis OMIM:614441
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Flexion contracture, Atypical scarring of skin, Decreased body weight, Decr... ORPHA:89842
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Anemia, Hypoalbuminemia, Liver abscess, Weight loss ORPHA:67
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Mastocytosis
Chronic leukemia, Mastocytosis, Recurrent fractures, Hypercalcemia, Osteoporosis, Splenomegaly, A... ORPHA:98292
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hepatoportal Sclerosis
Leukopenia, Splenomegaly, Anemia, Hyperbilirubinemia, Hypoalbuminemia, Hypersplenism, Thrombocyto... ORPHA:64743
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Knee flexion contracture, Hip contracture, Pathologic fracture, Hypoph... OMIM:156400
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Failure to thrive, Flexion contracture, Hypoalbuminemia ORPHA:367
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Fibrous Dysplasia Of Bone
Cortical irregularity, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal bone structure, Os... ORPHA:249
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypopigmentation of hair, Hypoprotein... ORPHA:167
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Laryngeal dystonia, Hyperpho... ORPHA:36913
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Abnormal bone structure, Splenomegaly, Anemia ORPHA:46532
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Hypercalcemia, Osteomalacia, Chondrocalcinosis, Hypermagnesemia, Hypophosphatemia OMIM:600740
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Tooth abscess, Osteomalacia, Iron deficiency anemia, Hypophosphatemia, Rickets ORPHA:89937
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Abnormal adipose tissue... ORPHA:93160
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia OMIM:612089
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Weight loss, Hypercalcemia ORPHA:35710
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Insulin-Resistance Syndrome Type B
Decreased body weight, Leukopenia, Weight loss, Abnormal circulating lipid concentration, Hypotri... ORPHA:2298
Johanson-Blizzard Syndrome
Hypoproteinemia, Abnormal hair pattern, Anemia, Failure to thrive, Alopecia ORPHA:2315
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Pancytopenia, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Schnitzler Syndrome
Leukocytosis, Increased bone mineral density, Splenomegaly, Anemia, Arthritis ORPHA:37748
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Long eyelashes, Osteoporosis, Joint hyperm... OMIM:614856
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Anemia, Re... ORPHA:848
2P21 Microdeletion Syndrome
Failure to thrive, Hypocalcemia, Long eyelashes ORPHA:163693
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Increased susceptibility to fractures, Cortical sclerosi... ORPHA:210110
Majeed Syndrome
Flexion contracture, Increased bone mineral density, Congenital hypoplastic anemia, Leukocytosis,... ORPHA:77297
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Osteopenia, Increased bone mineral density, Recurrent fractures, Osteoporosis, Hype... OMIM:239000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Enamel hypoplasia, Nail dystrophy, Anemia, Failure to thrive, Hypoalbuminemia, ... ORPHA:79396
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Hyperphosphatemia, Hypocalcemic tetany ORPHA:94090
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hypophosphatemic Rickets
Periapical tooth abscess, Joint stiffness, Hypercalcemia, Craniofacial osteosclerosis, Fibrous dy... ORPHA:437
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Splenomegaly, Increased bone mineral density ORPHA:2204
Trichodentoosseous Syndrome
Abnormal hair morphology, Increased bone mineral density OMIM:190320
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic seizures, Hypocalcemia, Decreased skull ossification, Hypocalcemic tetany, Cortical ... ORPHA:93324
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology ORPHA:3416
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Avian Influenza
Leukopenia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine ... ORPHA:454836
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypoalbuminemia, Hypertriglyceridemia, Hypomagnesemia OMIM:618183
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
Trichohepatoenteric Syndrome 1
Brittle hair, Woolly hair, Small for gestational age, Thrombocytosis, Hypermethioninemia, Fine ha... OMIM:222470
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Osteopenia, Small for gestational age, Slender build, Joint laxity, Hypocalcemia, T... OMIM:613658
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia, Failure to thrive OMIM:174900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly OMIM:619658
Familial Hypocalciuric Hypercalcemia
Hypocalcemic seizures, Hypercalcemia, Infantile hypercalcemia, Osteomalacia, Lipoma, Chondrocalci... ORPHA:405
Hepatocellular Carcinoma
Hypokalemia, Polycythemia, Hyponatremia, Hypercalcemia, Thrombocytosis, Anemia, Hyperbilirubinemi... ORPHA:88673
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Thickened ... OMIM:127000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Xfe Progeroid Syndrome
Corneal scarring, Enamel hypoplasia, Failure to thrive, Absence of subcutaneous fat, Hypoalbumine... OMIM:610965
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia, Splenomegaly, Inguinal hernia, Hypertrichosis OMIM:235255
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Osteopenia, Hypercalcemia, Obesity, Joint hypermobility, Hypertriglyceridemia ORPHA:369837
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Decreased skull ossification, Anemia, Hypomagnesemia, Calvarial osteosclerosis OMIM:244460
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Weight loss, Enamel hypoplasia, Thrombocytosis, Hypocalcemia, Osteoporosis, Ir... OMIM:212750
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Failure to thrive, Small for gestational age,... OMIM:619055
Secondary Intestinal Lymphangiectasia
Secondary hyperaldosteronism, Hypoalbuminemia, Reduced circulating transferrin concentration, Hyp... ORPHA:90363
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Failure to thrive, Tremor, Hypercalcemia, Synophrys ORPHA:476126
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Joint stiffness, Leukopenia, Long eyelashes, Hepatosplenomegaly, Hernia, Bon... ORPHA:505248
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Chondrocalcinosis, Hypermagnesemia, Hypercalcemia OMIM:145981
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Hypercalcemia, Tremor ORPHA:276621
Vipoma
Subcutaneous lipoma, Hypokalemia, Hypercalcemia, Normochromic anemia, Weight loss, Increased circ... ORPHA:97282
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis OMIM:122860
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Somatostatinoma
Subcutaneous lipoma, Hypercalcemia, Steatorrhea, Weight loss, Increased circulating cortisol leve... ORPHA:97283
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Osteomalacia, Pathologi... OMIM:179800
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Sparse bone trabeculae, Enamel hypoplasia, Hypocalcemia, Increased suscept... ORPHA:289157
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia, Alopecia, Nail dystrophy OMIM:601705
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Failure to thrive, Osteopetrosis, Thrombocytopenia OMIM:615085
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Leukopenia, Increased bone mineral density, Bone marrow hypocellularity, Hyperosto... OMIM:231095
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Glucagonoma
Subcutaneous lipoma, Hypercalcemia, Acanthocytosis, Normochromic anemia, Weight loss, Increased c... ORPHA:97280
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Nail dystrophy, Anemia, Cachexia, Alopecia, Hypomagnesemia OMIM:175500
Al Amyloidosis
Howell-Jolly bodies, Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Weig... ORPHA:85443
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia OMIM:603233
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Osteoporosis, Lipoma, Chondrocalcinosis, Hypophosphatemia... ORPHA:143
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Increased circulating renin level, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia OMIM:601198
Galloway-Mowat Syndrome 3
Hiatus hernia, Failure to thrive, Camptodactyly, Hypoalbuminemia OMIM:617729
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Inguinal hernia, Hypertrichosis ORPHA:1655
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Brittle hair, Sparse eyebrow OMIM:618810
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Nail dystrophy OMIM:618806
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, T lymphocytopenia, Decreased circulating beta-2-microglobulin level, Abnormal CD4:C... ORPHA:572
Galloway-Mowat Syndrome 1
Hiatus hernia, Dystonia, Small for gestational age, Hypoalbuminemia, Camptodactyly, Joint contrac... OMIM:251300
Beta-Thalassemia Intermedia
Osteopenia, Hepatosplenomegaly, Leukocytosis, Osteoporosis, Increased susceptibility to fractures... ORPHA:231222
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Weight loss, Decreased proportion of naive T cells, Elevated circulating C-rea... OMIM:619381
Mu-Heavy Chain Disease
Osteoporosis, Splenomegaly, Abnormal B cell count, Anemia, Osteolysis, Weight loss ORPHA:100024
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Hyperalaninemia, Hypoalbuminemia OMIM:618329
Tangier Disease
Hepatosplenomegaly, Nail dystrophy, Anemia, Hypertriglyceridemia, Hypocholesterolemia, Thrombocyt... ORPHA:31150
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count OMIM:618982
Buschke-Ollendorff Syndrome
Craniosynostosis, Joint stiffness, Flexion contracture, Recurrent fractures, Atypical scarring of... ORPHA:1306
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Anemia, Cachexia, Hypoalbuminemia, Refractory anemia ORPHA:79076
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Coronal craniosynostosis, Hypoalbuminemia, Umbilical hernia, Camptodactyly, Hirsutism, Joint cont... OMIM:235510
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, T lymphocytopenia, Splenomegaly, Decreased proportion of class-switched memory B cell... OMIM:615513
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Hypotonia-Cystinuria Syndrome
Failure to thrive, Hypocalcemia, Long eyelashes OMIM:606407
Ppoma
Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97278
Monosomy 13Q34
Obesity, Infantile hypercalcemia, Horizontal eyebrow ORPHA:96168
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Zollinger-Ellison Syndrome
Multiple lipomas, Hypercalcemia, Lipoma, Weight loss, Increased circulating cortisol level ORPHA:913
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Osteoporosis, Lipoma, Chondrocalcinosis, Hypophosphatemia ORPHA:99880
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Hypercalcemia, Tremor ORPHA:29072
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Pseudohypoparathyroidism Type 1C
Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, Hypocalcemia, Obesity, ... ORPHA:79444
Gracile Bone Dysplasia
Hypoplastic spleen, Hypocalcemia, Decreased skull ossification, Failure to thrive, Asplenia OMIM:602361
X-Linked Lymphoproliferative Disease
Pancytopenia, Increased circulating ferritin concentration, T lymphocytopenia, Hepatosplenomegaly... ORPHA:2442
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Increased circulating cortisol level, Hypercalcemia OMIM:131100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Osteopetrosis, Autosomal Dominant 2
Fractures of the long bones, Recurrent fractures, Hip osteoarthritis, Bone marrow hypocellularity... OMIM:166600
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Gaucher Disease Type 1
Pancytopenia, Osteopenia, Increased bone mineral density, Leukopenia, Osteoarthritis, Splenomegal... ORPHA:77259
Grfoma
Subcutaneous lipoma, Increased circulating cortisol level, Weight loss, Hypercalcemia ORPHA:97261
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decreased proporti... ORPHA:169154
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Bone marrow hypocellularity, Slender build,... OMIM:131300
Pseudohypoparathyroidism Type 1A
Hypocalcemic seizures, Increased bone mineral density, Enamel hypoplasia, Hypocalcemia, Obesity, ... ORPHA:79443
Diastrophic Dysplasia
Camptodactyly of finger, Joint hyperflexibility, Joint stiffness, Increased bone mineral density ORPHA:628
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Craniosynostosis, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Spondyloepiphyseal Dysplasia Tarda
Premature osteoarthritis, Hip osteoarthritis, Increased bone mineral density, Limited wrist movem... ORPHA:93284
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Osteopetrosis OMIM:618476
Sitosterolemia 1
Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulating sitosterol concentratio... OMIM:210250
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Recurrent fractures, Bone marrow hypocellularity, Hypocalcemia, Elevate... ORPHA:2785
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Failure to thrive in infancy, Decrease... OMIM:619510
Neuroleptic Malignant Syndrome
Hyponatremia, Leukocytosis, Oculogyric crisis, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperu... ORPHA:94093
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Poems Syndrome
Lipodystrophy, Polycythemia, Sclerosis of foot bone, Thrombocytosis, Sclerosis of hand bone, Scle... ORPHA:2905
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Abnormal vertebral segmentation and fusion, Limitation of joint mobil... ORPHA:90650
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Generalized osteosclerosis, Advanced tarsal ossification OMIM:215045
Schwartz-Jampel Syndrome
Generalized hirsutism, Umbilical hernia, Joint stiffness, Increased bone mineral density, Long ey... ORPHA:800
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Recurrent fractures, Splenomegaly, Anemia, Osteopetrosis, Reticulocytosis, Th... OMIM:611490
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Osteopenia, Osteoporosis, Splenomegaly, Hypoalbuminemia, Weight loss ORPHA:171
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Gaucher Disease
Pancytopenia, Osteopenia, Increased bone mineral density, Joint stiffness, Recurrent fractures, A... ORPHA:355
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
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
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Hypercalcemia, Increased susceptibility to fractures, Primary hypercortisolism,... ORPHA:652
Dominant Beta-Thalassemia
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231226
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia, Sparse eyebrow, Sparse hair OMIM:244450
Trichothiodystrophy
Brittle hair, Craniosynostosis, Osteopenia, Multiple joint contractures, Increased bone mineral d... ORPHA:33364
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Anemia, Osteopetrosis, Extramedullary hematopoiesis OMIM:612840
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, ... OMIM:618849
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity, Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Sarcoidosis
Eosinophilia, Leukopenia, Hypercalcemia, Increased T cell count, Anemia, Bone cyst, Hemolytic ane... ORPHA:797
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Beta-Thalassemia Major
Hepatosplenomegaly, Decreased mean corpuscular hemoglobin concentration, Failure to thrive in inf... ORPHA:231214
Atypical Werner Syndrome
Sclerosis of hand bone, Aplasia/Hypoplasia of the eyebrow, Osteoporosis, Chondrocalcinosis, Abnor... ORPHA:79474
Timothy Syndrome
Hypocalcemia OMIM:601005
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Arthrogryposis multiplex congenita, Abnormal circu... OMIM:602398
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Hypocalcemia, Small for gestational age OMIM:607143
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Dental enamel pits, Enamel hypomineralization, Increased bone mineral d... ORPHA:3352
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Delayed patellar ossification, Increased bone mineral density ORPHA:163649
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Recurrent fractures, Hypocalcemia, Splenomegaly, Abnormality of hair texture, A... ORPHA:667
X-Linked Hypophosphatemia
Cellulitis, Craniosynostosis, Arthritis, Limitation of joint mobility, Odontodysplasia, Vertebral... ORPHA:89936
Pycnodysostosis
Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, ... ORPHA:763
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Hypocalcemia, Increased susceptibility to fractures, Pathologic f... ORPHA:352540
Multiple Endocrine Neoplasia Type 4
Subcutaneous lipoma, Increased circulating cortisol level, Hypercalcemia ORPHA:276152
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Ataxia-Telangiectasia
Elevated alpha-fetoprotein, T lymphocytopenia, Dystonia, Leukemia, Abnormal hair morphology, Decr... OMIM:208900
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Osteoporosis, Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Familial Isolated Hypoparathyroidism
Hypocalcemia, Abnormal dental enamel morphology ORPHA:2238
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Patchy alopecia, T lymphocytopenia, Hepatosplenomegaly, Failure to thrive in infancy,... OMIM:606367
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Perianal abscess, Reduced natural killer... OMIM:618108
Autosomal Dominant Hypocalcemia
Hypocalcemia, Hyperphosphatemia, Alopecia, Reduced bone mineral density, Hypomagnesemia, Writer's... ORPHA:428
12Q14 Microdeletion Syndrome
Thick eyebrow, Failure to thrive, Abnormality of the spleen, Osteopoikilosis, Synophrys, Tremor ORPHA:94063
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Failure to thrive, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:300400
Dysosteosclerosis
Increased bone mineral density, Recurrent fractures, Craniofacial hyperostosis, Abnormal dental e... ORPHA:1782
Pheochromocytoma
Hypercalcemia OMIM:171300
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, ... OMIM:618620
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Irregular ossification at anteri... OMIM:260400
Raine Syndrome
Increased bone mineral density, Enamel hypoplasia, Highly arched eyebrow, Arthrogryposis multiple... OMIM:259775
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Werner Syndrome
Premature graying of hair, Lipodystrophy, Joint stiffness, Increased bone mineral density, Pili t... ORPHA:902
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Generalized osteoporosis, T lymphocytopenia, Osteopenia, Multiple joint contra... ORPHA:2959
Cartilage-Hair Hypoplasia
Hypocalcemia, Sparse eyebrow, Abnormal bone ossification, Sparse hair, Limited elbow extension, A... ORPHA:175
Multiple Endocrine Neoplasia Type 2
Joint laxity, Reduced subcutaneous adipose tissue, Hypercalcemia ORPHA:653
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Erdheim-Chester Disease
Increased bone mineral density, Xanthelasma, Osteomyelitis, Anemia, Osteolysis, Weight loss ORPHA:35687
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Obesity Due To Congenital Leptin Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:66628
Williams Syndrome
Osteopenia, Increased bone mineral density, Hypercalcemia, Joint stiffness, Failure to thrive in ... ORPHA:904
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Cellulitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil ... OMIM:618986
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Leukopenia, Bone m... ORPHA:443811
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Metaphyseal Dysplasia, Braun-Tinschert Type
Sclerosis of middle finger phalanx, Osteopenia, Increased bone mineral density, Thin bony cortex,... ORPHA:85188
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, HbH hemoglobin, Failur... ORPHA:98791
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia ORPHA:179494
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Curly hair, Osteopenia, Increased bone mineral density ORPHA:85184
Desmosterolosis
Osteopetrosis, Failure to thrive, Splenomegaly, Increased bone mineral density ORPHA:35107
Dahlberg-Borer-Newcomer Syndrome
Generalized hirsutism, Hypocalcemia ORPHA:1563
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Decreased ci... OMIM:207750
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypokalemia, Bone marrow hypocellularity, Small for gestational... ORPHA:699
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Osteopathia Striata-Cranial Sclerosis Syndrome
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... ORPHA:2780
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis OMIM:612301
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Septic arthritis, Abscess OMIM:612260
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Failu... ORPHA:83471
Double Outlet Right Ventricle
Failure to thrive, Hypocalcemia ORPHA:3426
Diamond-Blackfan Anemia 6
Tracheomalacia, Failure to thrive, Increased mean corpuscular volume, Macrocytic anemia, Persiste... OMIM:612561
Williams-Beuren Syndrome
Premature graying of hair, Osteopenia, Flexion contracture, Hypercalcemia, Failure to thrive in i... OMIM:194050
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Failure to thrive in infancy ORPHA:746
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Hypocholesterolemia, Elevated 7-dehydrocholesterol, Failure to thrive OMIM:270400
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Increased bone mineral density, Omphalocele, Failu... ORPHA:90652
Gitelman Syndrome
Hypokalemia, Hypocalcemia, Gout, Iron deficiency anemia, Chondrocalcinosis, Failure to thrive, Hy... ORPHA:358
Juvenile Polyposis Syndrome
Multiple lipomas, Hypoproteinemia, Anemia, Failure to thrive, Rectocele, Brain abscess ORPHA:2929
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Lead Poisoning
Cranial hyperostosis, Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Increas... ORPHA:330015
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Fail... ORPHA:79124
Gaucher Disease Type 3
Pancytopenia, Increased bone mineral density, Increased susceptibility to fractures, Splenomegaly... ORPHA:77261
Dysosteosclerosis
Clavicular sclerosis, Osteopenia, Sclerosis of hand bone, Increased susceptibility to fractures, ... OMIM:224300
Cholera
Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Hyponatremia ORPHA:173
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... ORPHA:1798
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Anemia, Hyperbilirubinemia, Hyperextensibility of the finger joints, Thrombocytopenia ORPHA:163979
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fractures of the long bones, Osteopenia, Patchy osteosclerosis, Diaphy... OMIM:112250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome