Gene Summary

Name:
interleukin 6 signal transducer
Synonyms:
CD130,  gp130,  D13Ertd699e,  5133400A03Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating bilirubin level Il6sttm1b(KOMP)Mbp HET Early adult 6.57×10-05
embryonic lethality prior to tooth bud stage Il6sttm1b(KOMP)Mbp HOM   E12.5 0.00
preweaning lethality, complete penetrance Il6sttm1b(KOMP)Mbp HOM   Early adult 0.00
increased mean corpuscular hemoglobin concentration Il6sttm1b(KOMP)Mbp HET Early adult 4.89×10-06

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (4 of 4)
Aorta  Section images heterozygote 100% (4 of 4)
Bone marrow  Section images heterozygote 100% (2 of 2)
Bone  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (4 of 4)
Brainstem  Section images heterozygote 100% (4 of 4)
Brown adipose tissue  Section images heterozygote 100% (4 of 4)
Cartilage tissue  Section images heterozygote 100% (4 of 4)
Cerebellum  Section images heterozygote 100% (4 of 4)
Cerebral cortex  Section images heterozygote 100% (4 of 4)
Epididymis  Section images heterozygote 50% (2 of 4)
Esophagus  Section images heterozygote 100% (4 of 4)
Eye  Section images heterozygote 100% (4 of 4)
Heart  Section images heterozygote 100% (4 of 4)
Hippocampus  Section images heterozygote 100% (4 of 4)
Hypothalamus  Section images heterozygote 100% (4 of 4)
Kidney  Section images heterozygote 100% (4 of 4)
Large intestine  Section images heterozygote 100% (4 of 4)
Liver  Section images heterozygote 100% (4 of 4)
Lung  Section images heterozygote 100% (4 of 4)
Lymph node  Section images heterozygote 100% (4 of 4)
Mammary gland  Section images heterozygote 50% (2 of 4)
Midbrain  Section images heterozygote 100% (4 of 4)
Olfactory lobe  Section images heterozygote 100% (4 of 4)
Ovary  Section images heterozygote 50% (2 of 4)
Oviduct  Section images heterozygote 50% (2 of 4)
Pancreas  Section images heterozygote 100% (4 of 4)
Peripheral nervous system  Section images heterozygote 100% (4 of 4)
Peyer's patch  Section images heterozygote 50% (2 of 4)
Pituitary gland  Section images heterozygote 100% (4 of 4)
Skeletal muscle  Section images heterozygote 50% (2 of 4)
Skin  Section images heterozygote 100% (4 of 4)
Small intestine  Section images heterozygote 100% (4 of 4)
Spinal cord  Section images heterozygote 100% (4 of 4)
Spleen  Section images heterozygote 100% (4 of 4)
Stomach  Section images heterozygote 100% (4 of 4)
Striatum  Section images heterozygote 50% (2 of 4)
Submandibular gland  Section images heterozygote 100% (3 of 3)
Testis  Section images heterozygote 50% (2 of 4)
Thalamus  Section images heterozygote 100% (4 of 4)
Thymus  Section images heterozygote 100% (4 of 4)
Thyroid gland  Section images heterozygote 100% (4 of 4)
Trachea  Section images heterozygote 100% (4 of 4)
Urinary bladder  Section images heterozygote 100% (4 of 4)
Uterus  Section images heterozygote 50% (2 of 4)
Vascular system  Section images heterozygote 100% (4 of 4)
White adipose tissue  Section images heterozygote 100% (4 of 4)
Lower urinary tract N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Vesicular gland N/A heterozygote Not available

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote Ambiguous
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

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%
bone 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 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%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

Adult LacZ

LacZ Images Section

90 Images

X-ray

XRay Images Whole Body Dorso Ventral

18 Images

X-ray

XRay Images Skull Lateral Orientation

18 Images

X-ray

XRay Images Forepaw

18 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

2 Images

Gross Morphology Embryo E9.5

Images

2 Images

Auditory Brain Stem Response

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

8 Images

Human diseases caused by Il6st 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.

The table below shows human diseases associated to Il6st by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Il6st by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... OMIM:601859
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... OMIM:603909
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormality of... ORPHA:3344
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ... OMIM:618048
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating parathyroid hormone level... OMIM:619073
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... OMIM:615615
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:264700
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Increased circulating antibody level, Histiocytosis OMIM:235900
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu v... ORPHA:93160
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Increased T cell count, Increase... ORPHA:98813
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:277440
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Decreased ci... OMIM:241530
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyte p... ORPHA:99867
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... OMIM:619079
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... OMIM:164900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Splenomegaly, Incr... OMIM:618495
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... ORPHA:79106
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... ORPHA:93324
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Splenomegal... ORPHA:3035
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... ORPHA:158061
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Mazabraud Syndrome
Fibrous dysplasia of the bones, Recurrent fractures ORPHA:57782
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... ORPHA:227990
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp... OMIM:617388
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Hy... ORPHA:79445
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... OMIM:620076
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Metaphyseal Dysplasia, Spahr Type
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... OMIM:250400
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300554
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep... ORPHA:227982
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... ORPHA:85410
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Rhyns Syndrome
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Osteoporosis, P... OMIM:602152
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... ORPHA:443811
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A... OMIM:616100
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... OMIM:619638
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Death in infancy, Micrognathia, Cryptorchidism, Ulnar bowing, Wide anteri... OMIM:619135
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin ras... OMIM:615934
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... OMIM:151210
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... OMIM:618108
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... OMIM:607594
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... ORPHA:1040
Immunodeficiency 43
Decreased circulating IgG level, Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased s... OMIM:241600
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... OMIM:605432
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... OMIM:608940
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... OMIM:609465
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, P... ORPHA:436159
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing OMIM:615066
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, Diarrhea, Arthritis... OMIM:601457
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... ORPHA:2741
Immunodeficiency 85 And Autoimmunity
Tube feeding, Recurrent respiratory infections, Villous atrophy, Lymphopenia, Failure to thrive i... OMIM:619510
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... ORPHA:2878
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... OMIM:602080
Immunodeficiency 70
Plantar warts, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody le... OMIM:618969
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia ORPHA:294
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... ORPHA:83468
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Dehydration, Conjunctivitis, High palate, Neutropenia, Chronic otitis media, M... ORPHA:33110
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, ... OMIM:618394
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... ORPHA:90280
Pachydermoperiostosis
Edema, Bone pain, Avascular necrosis, Genu varum, Acne, Osteoporosis, Anemia, Ptosis, Abnormal ha... ORPHA:2796
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus, Death in childhood OMIM:200900
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Autoimmunity, G... ORPHA:809
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... OMIM:108721
Achondroplasia
Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, B... OMIM:100800
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... ORPHA:169802
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Impair... OMIM:308230
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Proximal phalangeal periosteal thickening, Osteolytic defects of the phalang... OMIM:161700
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Hip dislocation, Osteoporosis, Reduced bone min... OMIM:616507
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia,... OMIM:616740
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency, Common Variable, 2
Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjun... OMIM:240500
Cernunnos-Xlf Deficiency
Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho... ORPHA:169079
Dent Disease 1
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Osteomalacia, Recurrent fractures... OMIM:300009
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell count, Skin rash, Autoimmunity, Abnorma... ORPHA:331206
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increased ci... OMIM:616005
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,... ORPHA:411593
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,... ORPHA:85435
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... OMIM:619636
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Shox-Related Short Stature
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... ORPHA:314795
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Micrognathia, High palate, Alopecia, Bronchiectasis, Methicillin-resistant Staphylococcus aureus ... OMIM:618282
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... ORPHA:2494
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Meningitis, R... ORPHA:47
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... OMIM:108720
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis OMIM:216950
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... OMIM:612462
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limitati... OMIM:156550
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... ORPHA:1427
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, I... ORPHA:263665
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Joint swelling, Juvenile r... ORPHA:85414
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Hypothyroi... OMIM:607944
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Anemia, Chr... ORPHA:209964
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Activated Pi3K-Delta Syndrome
Pneumonia, Autoimmunity, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Incr... ORPHA:397596
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Osteoporosis
Osteoporosis OMIM:166710
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short palm, Congenital h... OMIM:244460
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Epicanthus, Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tr... OMIM:614069
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... ORPHA:169160
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... OMIM:609220
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Increased circulating IgM... OMIM:617099
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... OMIM:166210
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Equinovarus def... ORPHA:319195
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... OMIM:207410
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... OMIM:617974
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Myasthenia Gravis
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Anti-acetylcholine receptor a... ORPHA:589
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Wilson Disease
Acute hepatic failure, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Bone p... ORPHA:905
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing OMIM:126550
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep... ORPHA:37042
Osteochondritis Dissecans
Abnormality of the knee, Decreased hip abduction, Quadriceps muscle atrophy, Joint stiffness, Abn... ORPHA:2764
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis ORPHA:79099
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... OMIM:614856
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... ORPHA:2501
Progressive Pseudorheumatoid Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ... OMIM:208230
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... OMIM:617952
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Le... OMIM:619652
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato... OMIM:619752
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h... OMIM:603233
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Panner Disease
Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar... ORPHA:97336
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia,... OMIM:300635
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem... OMIM:617780
Multiple Epiphyseal Dysplasia, Beighton Type
Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Ar... ORPHA:166011
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Stiff interphalangeal joints, Hypogonadotropic hypogonadism, Portal hypertension, Ab... ORPHA:465508
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia... ORPHA:89937
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... ORPHA:235
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m... ORPHA:1159
Grant Syndrome
Micrognathia, Down-sloping shoulders, Tibial bowing OMIM:138930
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Maternal diabetes, Abnormality of t... ORPHA:1570
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... OMIM:602875
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... OMIM:600920
Anauxetic Dysplasia 3
Short metacarpal, Joint hypermobility, Hip subluxation, Wide anterior fontanel, Squared iliac bon... OMIM:618853
Cap Polyposis
Atrophic gastritis, Diarrhea, Hematochezia, Constipation, Colorectal polyposis ORPHA:160148
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bow... OMIM:618188
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral... OMIM:616723
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocytosis, Thr... ORPHA:3392
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Hypercalcemia, Microgn... OMIM:156400
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosin