Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased 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
increased lean body mass Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.18×10-08
increased circulating total protein level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 5.09×10-07
decreased circulating HDL cholesterol level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.30×10-07
decreased circulating cholesterol level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.97×10-05
decreased T cell number Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.32×10-05
abnormal behavior Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.60×10-08
abnormal lens morphology Arhgef4tm1a(KOMP)Wtsi HOM   Early adult 9.64×10-05
decreased bone mineral density Arhgef4tm1a(KOMP)Wtsi HOM Early adult 6.99×10-06
abnormal vibrissa morphology Arhgef4tm1a(KOMP)Wtsi HOM Early adult 7.87×10-06
cataract Arhgef4tm1a(KOMP)Wtsi HOM   Early adult 9.27×10-05
decreased circulating triglyceride level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 5.39×10-12
decreased circulating serum albumin level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 3.25×10-07
increased circulating aspartate transaminase level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 4.29×10-05
decreased total body fat amount Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.07×10-05
abnormal response to tactile stimuli Arhgef4tm1a(KOMP)Wtsi HOM Early adult 6.20×10-07
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 3.11×10-06
decreased blood urea nitrogen level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.15×10-05
decreased circulating free fatty acids level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 2.65×10-05
increased circulating free fatty acids level Arhgef4tm1a(KOMP)Wtsi HOM Early adult 3.94×10-06
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 mature B cell number Arhgef4tm1a(KOMP)Wtsi HOM Early adult 1.38×10-05

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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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
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

View all 68 images

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
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Gaisböck Syndrome
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... ORPHA:90041
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intention... OMIM:610539
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Multiple Myeloma
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... ORPHA:29073
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... OMIM:613752
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... ORPHA:2457
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia OMIM:618805
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Craniosynostosis ORPHA:88643
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi... OMIM:209950
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Hypophosphatasia
Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Hypercalcemia, Anemia ORPHA:436
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age, Increased circulating free fatty acid level ORPHA:293964
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... OMIM:616834
Diarrhea 13
Failure to thrive, Hypoalbuminemia OMIM:620357
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility OMIM:619013
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Generaliz... OMIM:612526
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Flynn-Aird Syndrome
Increased bone mineral density, Cataract, Alopecia, Joint stiffness, Osteoporosis, Increased bone... OMIM:136300
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Hypercalcemia, Anemia ORPHA:2668
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Dystonia, Hyperchole... OMIM:208920
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo... ORPHA:507
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Dystonia, Hyperch... OMIM:616267
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... ORPHA:26793
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph... OMIM:609115
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Failure to thrive, Hypocalcemia, Reduced bone mineral density ORPHA:172
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi... OMIM:241600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal hair quantity, Lymphopenia, Hypoproteinemia ORPHA:1116
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Increased susceptibility to fract... OMIM:241500
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Hyperparathyroidism 4
Osteopenia, Hypercalcemia OMIM:617343
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age OMIM:256300
Primary Intestinal Lymphangiectasia
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... ORPHA:90362
Oculoskeletodental Syndrome
Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Low anterior h... OMIM:618440
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... OMIM:266510
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Congenital Lethal Erythroderma
Failure to thrive, Hypoalbuminemia ORPHA:1954
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypercalcemia, Infantile, 2
Failure to thrive, Hypercalcemia, Hypophosphatemia OMIM:616963
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Alg6-Cdg
Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol concentration ORPHA:79320
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Hypercalcemia, Craniosynostosis OMIM:614732
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... OMIM:242150
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Hypercalcemia, Recurrent fractures, Craniosynostosis, Obesity,... ORPHA:251004
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hyperca... ORPHA:199299
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... ORPHA:247585
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Oculoskeletodental Syndrome
Hypercalcemia, Developmental cataract, Abnormality of the frontal hairline, Hypocalcemia, Enamel ... ORPHA:557003
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly, ... OMIM:608104
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Flexion contracture, Hypoproteinemia, Cataract OMIM:608093
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Hypophosphatemia, Chondrocalcinosis, Generalized osteoporosis ORPHA:99879
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... ORPHA:247353
Infantile Myofibromatosis
Hypercalcemia, Abnormal hair morphology, Limitation of joint mobility, Bone cyst, Osteolysis, Cho... ORPHA:2591
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Anem... OMIM:259700
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... OMIM:620366
Autoimmune Hypoparathyroidism
Increased bone mineral density, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypoca... ORPHA:36913
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Al... OMIM:615559
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thrive, Hypocholest... OMIM:607765
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Thymic Neuroendocrine Tumor
Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss ORPHA:97289
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Squalene Synthase Deficiency
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... OMIM:618156
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ... OMIM:610768
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Non-Functioning Paraganglioma
Tremor, Hypercalcemia, Weight loss ORPHA:94080
Reni Syndrome
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Corneal erosion, Flexion contracture, Atypical scarring ... ORPHA:89842
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbum... OMIM:212065
Abetalipoproteinemia
Osteopenia, Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, Acanthoc... ORPHA:14
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Alg1-Cdg
Limitation of joint mobility, Hypoalbuminemia ORPHA:79327
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Blue Diaper Syndrome
Increased body weight, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Recurrent fractures, Splenomegaly, Hypophosphatemia, Failure to thrive... OMIM:239200
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia, Congenital alopecia totalis ORPHA:169095
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis... ORPHA:1667
Addison Disease
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Sparse axil... ORPHA:85138
Potocki-Lupski Syndrome
Failure to thrive, Small for gestational age, Hypocholesterolemia OMIM:610883
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Sparse axil... ORPHA:95409
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Osteomyelitis, Cellulitis, Thrombocytopenia, Wei... ORPHA:47
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Arthritis, Hyperostos... ORPHA:2485
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia ORPHA:71
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc... OMIM:602080
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Galactosemia Iv
Cataract, Hypergalactosemia OMIM:618881
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Hypercalcemia OMIM:239199
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Cataract, Diaphyseal sclerosis, Hyperphosphatemia, Co... ORPHA:94089
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Corneal arcus, Cataract OMIM:618463
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Hypopigmentation... ORPHA:167
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Flexion contracture, Synophrys, Low anterior hairline, Hirsutism,... OMIM:617303
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Developmen... OMIM:127000
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Hypocalcemia, Anemia ORPHA:100025
Alg12-Cdg
Hyponatremia, Low posterior hairline, Abnormal bone ossification, Abnormal adipose tissue morphol... ORPHA:79324
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... OMIM:277900
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Alopecia, Cachexia, Aut... ORPHA:37042
Galactosemia Ii
Cataract, Hypergalactosemia OMIM:230200
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Elevated circulating creatine kinase concentration, Increased adipose tissue OMIM:617404
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... ORPHA:529799
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia OMIM:226300
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... OMIM:601678
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Fibrous Dysplasia Of Bone
Thin bony cortex, Hypercalcemia, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Osteolysi... ORPHA:249
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Dystonia, Failu... OMIM:619487
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Nail dystrophy, F... OMIM:615895
Bacterial Toxic-Shock Syndrome
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Elevated c... ORPHA:36234
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly ORPHA:367
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypercalcemia, Knee flexion contracture, Hypophosphatemia, Pathologi... OMIM:156400
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia OMIM:618660
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Corneal opacity, Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Nail dyst... ORPHA:79396
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Pseudohypoparathyroidism, Type Ic
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hyp... OMIM:612462
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Cachexia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia, Anemia OMIM:175500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hypoalbuminemia, Steatorrhea OMIM:602579
Mpi-Cdg
Failure to thrive, Hypoalbuminemia ORPHA:79319
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Developmental cataract, Brittle hair, Hypocholesterolemia OMIM:618810
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Cataract, Small for gestational age, Reduced bone mineral density, Delayed ossif... OMIM:618392
Johanson-Blizzard Syndrome
Alopecia, Abnormal hair pattern, Failure to thrive, Hypoproteinemia, Anemia ORPHA:2315
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis OMIM:600740
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Hypoalbuminemia OMIM:614441
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombocytopenia, Leu... OMIM:259720
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Astigmatism, Joint hy... ORPHA:369837
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased... OMIM:617093
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enamel hypoplasia, Fail... OMIM:610965
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morph... ORPHA:93160
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... ORPHA:77297
2P21 Microdeletion Syndrome
Failure to thrive, Long eyelashes, Hypocalcemia ORPHA:163693
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Insulin-Resistance Syndrome Type B
Alopecia, Abnormality of body weight, Abnormal circulating fatty-acid concentration, Osteoarthrit... ORPHA:2298
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... OMIM:600081
Trichodentoosseous Syndrome
Abnormal hair morphology, Increased bone mineral density OMIM:190320
Galloway-Mowat Syndrome 1
Cataract, Small for gestational age, Dystonia, Hiatus hernia, Hypoplasia of the iris, Hypoalbumin... OMIM:251300
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ... OMIM:615704
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... OMIM:239000
Leptospirosis
Hyperproteinemia, Thrombocytopenia, Conjunctival hyperemia ORPHA:509
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Hypochromic ... ORPHA:3240
Hemochromatosis, Type 4
Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoart... OMIM:606069
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Inguinal hernia, Pancytopenia, Small for gestational age, Thin bony cor... OMIM:613658
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Hypocalc... OMIM:212750
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract OMIM:146200
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Galactokinase Deficiency
Cataract, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol in plasma,... ORPHA:79237
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... ORPHA:93324
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infections OMIM:608971
Tangier Disease
Hypertriglyceridemia, Corneal opacity, Hepatosplenomegaly, Anemia, Nail dystrophy, Hypocholestero... ORPHA:31150
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity ORPHA:79445
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros... OMIM:617306
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... OMIM:611490
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Tremor, Elevated circulating phytanic acid concentration, Increased circulating very lo... OMIM:614307
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Failure to thrive secondary to r... OMIM:601457
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Cataract, Obesity, Hyperphosphatemia, Conjunctivitis,... ORPHA:79444
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Increased mean platelet volume, Splenomegaly... OMIM:222470
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cataract, Elevated circulating creatine kinase concentration OMIM:615352
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Splenomegaly, Hypocalcemia, Hypoproteinemia, Hypertrichosis OMIM:235255
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Hypercalcemia, Weight loss ORPHA:276621
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Synophrys, Failure to thrive, Hypercalcemia ORPHA:476126
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab... OMIM:264700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Juvenile Polyposis Syndrome
Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia OMIM:174900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thick hair, Joint stiffness, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Leukopeni... ORPHA:505248
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Intention... OMIM:254900
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Cataract, Band keratopathy, Obesity, Reduced bone min... ORPHA:79443
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Failure to thrive, Hypoalbuminemia, Elevated circulating creatine kina... OMIM:619055
Hereditary Pheochromocytoma-Paraganglioma
Aniridia, Tremor, Hypercalcemia, Weight loss ORPHA:29072
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Increased T cell count, Nail dystrophy, Increased B cell count, Sparse hair, Failure ... ORPHA:98813
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis OMIM:145981
Gracile Bone Dysplasia
Asplenia, Decreased skull ossification, Hypocalcemia, Aniridia, Hypoplastic spleen, Failure to th... OMIM:602361
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Secondary Intestinal Lymphangiectasia
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... ORPHA:90363
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Alopecia, Decreased helper T cell proportion, Nail dystrophy OMIM:601705
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... ORPHA:85443
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Hypertrichosis ORPHA:1655
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti... OMIM:619381
Monosomy 13Q34
Horizontal eyebrow, Hypercalcemia, Obesity ORPHA:96168
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia, Weight loss, Increased circulating cortisol level, ... ORPHA:97283
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibilit... ORPHA:289157
Werner Syndrome
Sparse scalp hair, Increased bone mineral density, Cataract, Lipoatrophy, Lipodystrophy, Joint st... ORPHA:902
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Gen... OMIM:614856
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Failure to thrive, Hypernatremia, Hypoalbuminemia OMIM:615508
Vipoma
Hypercalcemia, Weight loss, Hypokalemia, Increased circulating cortisol level, Normochromic anemi... ORPHA:97282
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Glucagonoma
Hypercalcemia, Acanthocytosis, Weight loss, Increased circulating cortisol level, Normochromic an... ORPHA:97280
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... ORPHA:405
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... OMIM:179800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Nail dystrophy, Abnormally low T cell receptor excision circle level OMIM:618806
Galactose Mutarotase Deficiency
Failure to thrive, Hypergalactosemia, Cataract ORPHA:570422
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Low anterior hairline, Microcornea, Wrist fle... ORPHA:800
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Hypocalcemia, Cataract ORPHA:2238
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia OMIM:615085
Pheochromocytoma--Islet Cell Tumor Syndrome
Hypercalcemia OMIM:171420
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia, Obesity OMIM:603233
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Cataract, Abnormal bone ossification ORPHA:163649
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... ORPHA:231222
Parathyroid Carcinoma
Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:143
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly OMIM:618982
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased... OMIM:615513
Galloway-Mowat Syndrome 3
Failure to thrive, Hypoalbuminemia, Camptodactyly, Hiatus hernia OMIM:617729
Trichothiodystrophy
Osteopenia, Multiple joint contractures, Brittle hair, Microcornea, Conjunctivitis, Neutropenia, ... ORPHA:33364
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Decreased circulating plasmalogen concentration, Inguinal hernia, Cataract, Flexion c... OMIM:222765
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia OMIM:618329
Werner Syndrome
Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral densi... OMIM:277700
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosph... ORPHA:2611
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pheochromocytoma
Hypercalcemia, Developmental cataract OMIM:171300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Joint contracture, Cataract, Elevated circulating creatine kinase concentration OMIM:615351
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... ORPHA:572
Pseudohypoparathyroidism, Type Ia
Cataract, Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetan... OMIM:103580
Sanjad-Sakati Syndrome
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Hyperphosphatemia, Ast... ORPHA:2323
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sarcoidosis
Hemolytic anemia, Alopecia, Cataract, Scarring, Hypercalcemia, Eosinophilia, Thrombocytopenia, In... ORPHA:797
Cardiomyopathy, Dilated, 1Ii
Cataract, Elevated circulating creatine kinase concentration OMIM:615184
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Camptodactyly, Umbilical hernia, Coronal craniosynostosis, Joint contracture of ... OMIM:235510
Hypotonia-Cystinuria Syndrome
Failure to thrive, Long eyelashes, Hypocalcemia OMIM:606407
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia ORPHA:100024
Juvenile Polyposis Of Infancy
Refractory anemia, Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Anemia ORPHA:79076
Ppoma
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss ORPHA:97278
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Microcornea, Astigmatism, Hypocholesterolemia, Sparse hair, Failure to thrive OMIM:244450
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesit... OMIM:615418
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Multiple Endocrine Neoplasia, Type I
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma OMIM:131100
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... ORPHA:94090
Gaucher Disease
Osteopenia, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Ele... ORPHA:355
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... ORPHA:186
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss, Multiple lipomas, Increased circulating cortisol level, Lipoma ORPHA:913
Gaucher Disease Type 1
Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteoarthr... ORPHA:77259
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Dubowitz Syndrome
Sparse scalp hair, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Hypoplasia of ... OMIM:223370
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Galactosemia I
Hemolytic anemia, Cataract, Increased level of galactitol in plasma, Hypergalactosemia, Increased... OMIM:230400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Long eyelashes, ... OMIM:618476
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Atypical Werner Syndrome
Sclerosis of hand bone, Abnormal hair whorl, Reduced bone mineral density, Premature graying of h... ORPHA:79474
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis ORPHA:99880
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-pos... ORPHA:169154
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Alopecia, Multiple joint contractures, Small for gestational age, Lack of facial subc... ORPHA:2959
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Dahlberg-Borer-Newcomer Syndrome
Cataract, Hypocalcemia, Generalized hirsutism ORPHA:1563
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cataract, Joint hypermobility, Low plasma citrulline, Hyperammonemia, Athetosis,... OMIM:219150
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh... ORPHA:171
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... OMIM:609049
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Grfoma
Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss ORPHA:97261
Ataxia-Telangiectasia
Conjunctival telangiectasia, Lymphopenia, Elevated circulating alpha-fetoprotein concentration, A... OMIM:208900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi... OMIM:619510
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Inguinal hernia, Dry hair, Elevated circulating alpha-fetoprotein con... OMIM:619991
Williams Syndrome
Osteopenia, Elevated circulating creatine kinase concentration, Tremor, Megalocornea, Joint laxit... ORPHA:904
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Oculogyric crisis, Tremor, Leuk... ORPHA:94093
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Lymphopenia ORPHA:277
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Leukonychia, Weight loss, Sclerosi... ORPHA:2905
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy OMIM:604278
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Osteolysis, Weight loss, Reduced bone mineral density, Multiple lipomas, Increased... ORPHA:652
Mevalonic Aciduria
Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Elevated circulating creat... OMIM:610377
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Osteopenia, Cataract, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractures, Thrombocyt... ORPHA:2785
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Cataract, Osteopetrosis, Facial hyperostosis, Coarse metaphyseal ... ORPHA:2780
Desmosterolosis
Failure to thrive, Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Ar... OMIM:602398
Smith-Lemli-Opitz Syndrome
Cataract, Splenomegaly, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrochol... OMIM:270400
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Prominent corneal nerve fibers, Hypercalcemia, Joint laxity ORPHA:653
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia OMIM:612840
Colchicine Poisoning
Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal... ORPHA:31824
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cataract, Small for gestational age, Hypomagnesemia, Thrombocytope... ORPHA:699
Vici Syndrome
Lymphopenia, Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentrati... OMIM:242840
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Coronal cra... ORPHA:763
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Increased bone mineral density, Periapical tooth absc... ORPHA:3352
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Failure to thrive,... OMIM:300400
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Red... OMIM:617052
12Q14 Microdeletion Syndrome
Tremor, Abnormality of the spleen, Osteopoikilosis, Synophrys, Failure to thrive, Thick eyebrow ORPHA:94063
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Beta-Thalassemia Major
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231214
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hereditary Methemoglobinemia
Methemoglobinemia, Athetosis, Small for gestational age, Limb dystonia ORPHA:621
Otopalatodigital Syndrome Type 2
Omphalocele, Carpal synostosis, Increased bone mineral density, Cataract, Camptodactyly of finger... ORPHA:90652
Oncogenic Osteomalacia