Gene Summary

Name:
dual oxidase maturation factor 2
Synonyms:
9030623N16Rik,  Nip2

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 lean body mass Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.30×10-19
decreased Ly6C low monocyte number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased lean body mass Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 2.32×10-05
decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased follicular B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased NK cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased heart weight Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.70×10-10
abnormal vertebral arch morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.14×10-19
increased circulating fructosamine level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.66×10-22
increased circulating LDL cholesterol level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased mean platelet volume Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 4.65×10-06
increased circulating calcium level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.85×10-13
decreased CD8-positive, alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal snout morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.11×10-12
abnormal head morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 6.82×10-06
increased circulating iron level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 7.54×10-18
decreased mature B cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating total protein level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.77×10-16
improved glucose tolerance Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.39×10-07
increased CD8-positive, naive alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased CD8-positive, alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal hair growth Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 4.12×10-07
decreased transitional stage T1 B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased memory-marker gamma-delta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased total body fat amount Duoxa2tm1b(KOMP)Wtsi HOM Early adult 7.76×10-05
decreased B-2 B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating sodium level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.52×10-09
abnormal zygomatic bone morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.14×10-19
decreased red blood cell distribution width Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.28×10-15
decreased effector memory T-helper cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased CD11b-high dendritic cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased hematocrit Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.25×10-08
abnormal tibia morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.18×10-19
increased neutrophil cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased CD4-positive, alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased erythrocyte cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.29×10-16
decreased circulating thyroxine level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal clavicle morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.18×10-19
increased mean corpuscular hemoglobin concentration Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.18×10-06
increased circulating creatinine level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.25×10-21
decreased circulating glucose level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.09×10-06
abnormal bone structure Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.52×10-40
increased total body fat amount Duoxa2tm1b(KOMP)Wtsi HOM Early adult 8.64×10-18
abnormal joint morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.46×10-16
decreased grip strength Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.68×10-08
decreased bone mineral content Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.02×10-19
decreased hemoglobin content Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.38×10-08
decreased body length Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased bone mineral density Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.25×10-06
abnormal vertebrae morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.21×10-10
decreased KLRG1-positive NK cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal humerus morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.51×10-18
abnormal cranium morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.11×10-12
increased circulating HDL cholesterol level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased fasting circulating glucose level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.39×10-31
abnormal thoracic cage shape Duoxa2tm1b(KOMP)Wtsi HOM Early adult 6.18×10-15
decreased immature B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal ulna morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.82×10-17
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased plasmacytoid dendritic cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased effector memory CD8-positive, alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal auditory brainstem response Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 5.10×10-12
abnormal femur morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.82×10-17
abnormal radius morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.05×10-16
abnormal iris morphology Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 3.49×10-05
decreased circulating amylase level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.89×10-09
increased T-helper cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased leukocyte cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.26×10-12
increased blood urea nitrogen level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.53×10-06
abnormal eyelid morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.16×10-07
increased circulating cholesterol level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased mean corpuscular hemoglobin Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.87×10-27
absent pinna reflex Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.05×10-18
increased circulating serum albumin level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.20×10-22

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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 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
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 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 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 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 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.

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

31 Images

Spleen Immunophenotyping

Images associated with FACS analysis

114 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Forepaw

14 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Bone marrow immunophenotyping

Images associated with FACS analysis

10 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 70 images

View all 24 images

Human diseases caused by Duoxa2 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 Duoxa2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Thyroid Dyshormonogenesis
Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,... ORPHA:95716
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900

The table below shows human diseases predicted to be associated to Duoxa2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia,... ORPHA:158048
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Autoinflammation With Infantile Enterocolitis
Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Failure to thrive, T... OMIM:616050
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Recurrent otitis media, Decreased proportion o... OMIM:619802
Hypophosphatasia
Abnormal metaphysis morphology, Anemia, Craniosynostosis, Bowing of the long bones, Abnormal rib ... ORPHA:436
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hair quantit... ORPHA:1116
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein con... ORPHA:158057
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol... OMIM:617718
Hypophosphatasia, Infantile
Anemia, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Elevated plasma pyrophospha... OMIM:241500
Immunodeficiency 43
Hypoplasia of the ulna, Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating b... OMIM:241600
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ... OMIM:615615
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4... OMIM:618204
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Multiple Myeloma
Osteopenia, Anemia, Vertebral compression fracture, Hypercalcemia, Splenomegaly, Weight loss, Hyp... ORPHA:29073
Immunodeficiency 115 With Autoinflammation
Anemia, Elevated circulating C-reactive protein concentration, Clubbing, Elevated haptoglobin lev... OMIM:620632
Alg12-Cdg
Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Small nail, Sensorineural he... ORPHA:79324
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 32B
Anemia, Monocytopenia, Eosinophilia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... OMIM:226990
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Palpebral edema, Clinodactyly of the 2nd finger, Optic nerve hypoplasia, Hyperlordosis, Dermatoch... ORPHA:221139
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Hypoglycemia, Hyper... OMIM:617872
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Albers-Schönberg Osteopetrosis
Abnormal metaphysis morphology, Optic atrophy, Genu valgum, Anemia, Abnormal metacarpal morpholog... ORPHA:53
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hype... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hype... ORPHA:529799
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypsarrhythmia, Exaggerated startle response, Partial atrioventricular canal defect, Hypernatremi... OMIM:620423
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Oste... ORPHA:398063
Wolcott-Rallison Syndrome
Neutropenia, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body weight, Ce... ORPHA:1667
Mirage Syndrome
Hyperkalemia, Rocker bottom foot, Anemia, Radial club hand, Scoliosis, Adrenal hypoplasia, Decrea... OMIM:617053
Neuroleptic Malignant Syndrome
Hyperkalemia, Oculogyric crisis, Hyperuricemia, Hypocalcemia, Tremor, Elevated circulating creati... ORPHA:94093
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Prominent floating ribs, Abnormal hair morphology, Lymphopenia OMIM:152800
Immunodeficiency 15B
Failure to thrive, Monocytosis, Reduced natural killer cell count OMIM:615592
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Failure to thri... OMIM:613845
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Anemia, Elevated circulating C-reactive protein concentration, B lymphocy... OMIM:619381
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Femoral bowing, Tibial bowing, Cardiomyopathy, Splenomegaly, Hypophosp... ORPHA:289157
Immunodeficiency 20
Reduced natural killer cell count, Recurrent otitis media OMIM:615707
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Microtia, Short long bone, Broad femoral neck, Left ventricular hypertrophy, Butt... OMIM:611209
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase... OMIM:267700
Mucopolysaccharidosis-Plus Syndrome
Clubbing, Flared iliac wing, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Spl... OMIM:617303
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Short metac... ORPHA:508533
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Recurrent otitis media, Albinism, Ocular albinism, Upslanted palp... OMIM:608233
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Recurrent otitis media, Giant platelets, Upper limb undergrowt... OMIM:169400
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Generalized bone demineralization, Macrocytic anemia, Hype... ORPHA:199299
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Impaired lymphocyte transformation with phyt... OMIM:301000
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Weight loss ORPHA:69077
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased susceptibility to fractures, Supernumerary tooth, Scoliosis, Cutaneous abscess, Persist... OMIM:619752
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, Abnormal heart morphology, T lymphocytopenia DECIPHER:16
Primary Intestinal Lymphangiectasia
Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, Hypoproteinemia, Reduced prop... ORPHA:90362
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Retrognathia, Reduced haptoglobin level, Anemia, Schistocytosis, Short long bone, Long eyelashes,... OMIM:301110
Oculoskeletodental Syndrome
Hypocalcemia, Scoliosis, Elbow flexion contracture, Thoracic kyphosis, Low posterior hairline, Hy... OMIM:618440
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossification, Thrombocy... ORPHA:3319
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm... ORPHA:443811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Pancytopenia, B lymphocytopenia, T lymphocytopenia, Cellulitis, Leukopeni... OMIM:618986
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... ORPHA:3344
Immunodeficiency 48
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Splenomegaly, Abno... OMIM:269840
Oculoskeletodental Syndrome
Retrognathia, Abnormality of the frontal hairline, Hypocalcemia, Sensorineural hearing impairment... ORPHA:557003
Immunodeficiency 27A
Anemia, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, Hepatosplenomegal... OMIM:209950
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, T lymphocytopenia, Decreased proportion of CD4-positive h... OMIM:619510
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Splenomegaly, Abnormal ... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi... OMIM:603553
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Splenomegaly, Pathologic fracture, Craniosynostosis, Optic atrophy, Pancytopenia,... OMIM:259700
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Bone cyst, Sensorineural hearing impairment, Hypercalcemia, Hyperparathyroidism ORPHA:2668
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 54
Adrenocorticotropic hormone excess, Failure to thrive, Splenomegaly, Reduced natural killer cell ... OMIM:609981
Alg8-Cdg
Optic atrophy, Anemia, Low-set ears, Camptodactyly, Hyponatremia, Failure to thrive, Thrombocytop... ORPHA:79325
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Immunodeficiency 57 With Autoinflammation
Perianal abscess, B lymphocytopenia, T lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Precocious puberty in females, Abnormality of the endocrine system, Hy... ORPHA:249
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Broad eyebrow, Telecanthus, Microtia, Mandibular prognathia, Long eyelashe... OMIM:620475
Johanson-Blizzard Syndrome
Short nose, Anemia, Dextrocardia, Delayed eruption of teeth, Abnormal cardiac septum morphology, ... ORPHA:2315
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Leukocytosis, Abnormal autonomic nervous system physiology, Hypo... ORPHA:83601
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Short nose, Low-set ears, T lymphocytopenia, Failure to thrive, Micrognathia, Epicanthus, Reduced... OMIM:242860
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Pancyto... OMIM:308240
Immunodeficiency 53
Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Recu... OMIM:617585
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Anemia, Low-set ears, Camptodactyly, Hypothyroidism, Fa... OMIM:608104
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Osteopor... ORPHA:231226
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Finger syndactyly, Sensorineura... ORPHA:71289
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Failure to thrive, Severe B... OMIM:603554
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Hirsutism, Reduced subcutaneous ad... OMIM:612526
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Cachexia, Hyperlordosis, Kyphosis, Leukopenia, Spleno... ORPHA:1328
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia, Neutrophilia, ... ORPHA:1930
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hypocalcemia, Arthritis, Abnormality of th... ORPHA:247353
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Abnormal platelet function,... ORPHA:167
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Highly arched eyebrow, Sensorineural hearing impairment, Pulmonic st... OMIM:616737
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Chronic... ORPHA:534
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Anemia,... ORPHA:337
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Iron deficiency anemia, Clubbing of fingers, Hypoproteinemia, Clubbing, Hypothyroidism, H... OMIM:226300
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Abnormal dental enamel morphology, Episodic hemolytic anemia, Increased blood ur... ORPHA:251004
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Anemia, Scoliosis, Hypoproteinemia, Cardiomyopathy, Leukocytosis, Elevated circul... OMIM:615895
Osteopetrosis, Autosomal Recessive 5
Splenomegaly, Optic atrophy, Cranial hyperostosis, Pancytopenia, Hypocalcemia, Increased bone min... OMIM:259720
Leishmaniasis
Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Weight loss, Thro... ORPHA:507
Cockayne Syndrome Type 1
Optic atrophy, Scarring, Hypoplasia of the primary teeth, Anemia, Foot joint contracture, Scolios... ORPHA:90321
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Addison Disease
Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Sparse ... ORPHA:85138
Relapsing Fever
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili... ORPHA:91547
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Alopecia, Sensorineural hearing impairment... ORPHA:47
Reni Syndrome
Hypertriglyceridemia, Sensorineural hearing impairment, Hypothyroidism, Ptosis, Hypogonadism, Lym... OMIM:617575
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Joint hypermobility, Scoliosis, Hypothyroidism, Arachnodactyly, Hepatosplen... OMIM:619013
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, B lymphocytopenia, Failure to thrive, Thro... OMIM:618048
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Nail dystrophy, Decreased response to growth hormone stimulation test, Recurrent otitis media, De... ORPHA:293978
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Acute Adrenal Insufficiency
Hyperkalemia, Delayed puberty, Normocytic anemia, Orthostatic hypotension, Hyperuricemia, Adrenal... ORPHA:95409
Hyperparathyroidism, Neonatal Severe
Calcinosis, Elevated circulating parathyroid hormone level, Anemia, Recurrent fractures, Primary ... OMIM:239200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Failure to t... ORPHA:276
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga, Abnormality of the vertebral column OMIM:191420
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Kenny-Caffey Syndrome, Type 1
Anemia, Congenital hypoparathyroidism, Calvarial osteosclerosis, Slender long bone, Hypocalcemia,... OMIM:244460
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Short nose, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... OMIM:614732
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Myeloproliferative... ORPHA:100924
Necrotizing Enterocolitis
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Abnormal heart morphology, Hyperglycemi... ORPHA:391673
Symbrachydactyly Of Hands And Feet
Maternal diabetes, Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abn... ORPHA:1570
Trichohepatoenteric Syndrome 1
Microtia, Pulmonic stenosis, Splenomegaly, Sparse hair, Fine hair, Brittle hair, Woolly hair, Cur... OMIM:222470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Inguinal hernia, Hypocalcemia, Thyroid lymphangiectasia, Hypoproteinemia, Postaxial hand polydact... OMIM:235255
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Nail dysplasia, Long nose, Aplasia/hypoplasia involving bones of the upper limbs... ORPHA:221016
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron def... OMIM:301074
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Gout, Elevated circulating creatinine concentration, Neutropenia OMIM:617056
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Splenomega... OMIM:619868
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati... ORPHA:494444
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Eruption failure, Kyphosis, Aplasia of the 1st metacarpal, Partial absence of thumb, Abnormality ... ORPHA:476126
Rothmund-Thomson Syndrome
Aplastic anemia, Nail dysplasia, Reduced bone mineral density, Small nail, Sparse hair, Palmar hy... ORPHA:2909
Syndromic Diarrhea
Trichorrhexis nodosa, Abnormality of iron homeostasis, Inguinal hernia, Brittle hair, Hypopigment... ORPHA:84064
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Anemia, Intention tremor, Ptosis, Thrombocytopenia, Splenomegaly, Erlenmeyer flask de... OMIM:610539
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Nail dysplasia, Sparse or absent eyelashes, Short metacarpal, Sparse hair, Hypog... ORPHA:221008
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Infantile Myofibromatosis
Abnormal metaphysis morphology, Abnormal hair morphology, Bone cyst, Limitation of joint mobility... ORPHA:2591
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Macrophage Activation Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentra... ORPHA:158061
Sitosterolemia 1
Corneal arcus, Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin le... OMIM:210250
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly, Alopecia ORPHA:100025
Hemochromatosis, Type 3
Anemia, Arthritis, Cardiomyopathy, Increased circulating iron concentration, Lymphopenia, Elevate... OMIM:604250
Shigellosis
Myocarditis, Corneal ulceration, Arthritis, Splenic abscess, Leukocytosis, Hyponatremia, Conjunct... ORPHA:810
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Leukopenia,... ORPHA:2298
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Short nose, Low-set ears, Kyphosis, Failure to thrive, Short neck, Pericard... OMIM:608776
Legionnaires Disease
Myocarditis, Hyponatremia, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Lymphopenia, ... ORPHA:549
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Increased LDL... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Eleva... OMIM:616828
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Secundum atrial septal defect, Decreased proportion of CD4-positive helper T cells, Decreased pro... OMIM:611926
Pyruvate Carboxylase Deficiency
Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... ORPHA:3008
Cog4-Cdg
Thick hair, Thrombocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Hypercholesterolemia ORPHA:263501
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Cutaneous abscess, Failure to thrive, Decreased proportion of CD4-positiv... OMIM:243700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Leptospirosis
Chorioretinitis, Conjunctival hyperemia, Pericarditis, Papilledema, Thrombocytopenia, Hyperprotei... ORPHA:509
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Highly arched eyebrow, Ab... ORPHA:2162
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Hypogonadism,... ORPHA:950
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Hypocalcemia, Failure to thrive, Splenomegaly, Abnormality of throm... ORPHA:172
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal obesi... OMIM:616222
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Hernia, Opti... ORPHA:505248
Fanconi Anemia
Abnormal femur morphology, Reduced bone mineral density, Abnormality of the upper limb, Abnormal ... ORPHA:84
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Recurrent otitis media, Scoliosis, Short foot, Precocious p... ORPHA:254531
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Small nail, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosi... OMIM:615631
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Hypoparathyroidism, Clubbing of fingers, Metaphyseal ... OMIM:156400
Porphyria Variegata
Scarring, Proximal muscle weakness in upper limbs, Anemia, Inappropriate antidiuretic hormone sec... ORPHA:79473
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Scolios... OMIM:182290
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Elevated hepatic iron concentration, Anisocytosis, Hepatosplenomegaly, Type ... OMIM:616860
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... ORPHA:232
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Hyperammonemia... ORPHA:292
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Aicardi-Goutieres Syndrome 2
Lymphocytosis, Dystonia OMIM:610181
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Sparse hair, Reduced intrathoracic adipose tissue, Hyperinsuli... ORPHA:2457
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Femoral bowing, Sp... OMIM:250250
Galactokinase Deficiency
Hyperinsulinemia, Nuclear cataract, Sensorineural hearing impairment, Increased level of galactit... ORPHA:79237
Liver Disease, Severe Congenital
Left atrial enlargement, Nail dystrophy, Lymphocytosis, Hypoproteinemia, Hyperammonemia, Leukopen... OMIM:619991
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Japanese Encephalitis
Pill-rolling tremor, Stiff neck, Distal upper limb muscle weakness, Eyelid fasciculation, Genu re... ORPHA:79139
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypoglycemia, Hypercholestero... OMIM:232700
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Inguinal hernia, Hypocalcemia, Hypoproteinemia, Postaxial hand polydactyly, Low-set ears, Downsla... ORPHA:1655
Dyskeratosis Congenita, Autosomal Recessive 8
Nail dystrophy, Pancytopenia, B lymphocytopenia, Sparse scalp hair, Bone marrow hypocellularity, ... OMIM:620133
Eosinophilic Gastroenteritis
Steatorrhea, Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinop... ORPHA:2070
Sarcoidosis
Increased T cell count, Leukopenia, Abnormal conjunctiva morphology, Enlarged lacrimal glands, Di... ORPHA:797
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Abnormal heart morphology, Joint hypermobility, Craniosynostosis, Astigmati... ORPHA:369837
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Impaired glucose tolerance, Joint stiffness, Short distal phalanx of finger, Coxa... OMIM:248370
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Sensorineural hearing impairment, Increased mean pl... ORPHA:182050
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Abnormality of the endocrine system, Highly arched eyebrow, Abnormal... ORPHA:487796
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Bulging of the costochondral junction, Femoral bowing, Tibial bowing, ... OMIM:264700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Abnormality of the endocrine system, Cachexia, Splenomegaly, Abnormal blood ion c... ORPHA:37042
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Papilled... OMIM:620366
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Abnormal natural killer cell count, Abnormal... OMIM:620430
Whipple Disease
Myocarditis, Anemia, Cachexia, Arthritis, Hypothyroidism, Hyponatremia, Pericarditis, Splenomegal... ORPHA:3452
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Kyphosis, Joint hypermobility, EEG abnormality, Genu varum, Ast... ORPHA:2479
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Congenital Erythropoietic Porphyria
Ectropion, Reticulocytosis, Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin conce... ORPHA:79277
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Low posterior hairline, T lymphocytopenia, Generalized osteoporosis, Short dista... ORPHA:2959
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Failure... ORPHA:911
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, T lymphocytopenia, S... OMIM:608971
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypothyroidism, Hyperglycemia, Left ventricular hypertrophy, Hypopituitarism, Hyper... ORPHA:90065
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, Nail dystrophy, Ridged nail, T lymphocytopenia, Nail pits, Al... OMIM:601705
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Dopamine Beta-Hydroxylase Deficiency
Bilateral ptosis, Hyperinsulinemia, Anemia, Orthostatic hypotension, Hypoglycemia, Increased bloo... ORPHA:230
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Chronic otitis media, Abnormal form of the vertebral bodie... ORPHA:819
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Rocker bottom foot, Retrognathia, Camptodactyly, Failure to thrive, Anisocytosis, Micrognathia, F... OMIM:604273
Preeclampsia
Elevated circulating creatinine concentration, Type I diabetes mellitus, Thrombocytopenia, Small ... ORPHA:275555
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Cellulitis, Neutropenia ORPHA:238459
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, J... ORPHA:1040
Webb-Dattani Syndrome
Retrognathia, Decreased response to growth hormone stimulation test, Diabetes insipidus, Pituitar... OMIM:615926
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Snakebite Envenomation
Hypopituitarism, Hyponatremia, Thrombocytopenia ORPHA:449285
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Bone cyst, Mandibular prog... ORPHA:528
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:615703
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Unconjugated hyperbilirubinemia, Reticulocytosis, Circulating nu... OMIM:613673
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Nail dystrophy, Anemia, Hypokalemia, Clubbing of fingers, Hypocalcemia, Cachexia,... OMIM:175500
Selective Igm Deficiency
Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-posi... ORPHA:331235
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic anemia, Hypoa... OMIM:617021
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Cohen Syndrome
Delayed puberty, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing impairment, Kyph... ORPHA:193
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Argininuria, Hyperamm... ORPHA:470
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Acquired Partial Lipodystrophy
Lipoatrophy, Lymphocytosis, Hearing impairment, Generalized hirsutism, Insulin resistance ORPHA:79087
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit... OMIM:615751
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Cataract, Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia OMIM:618805
Monosomy 13Q34
Osteochondrosis, Abnormal earlobe morphology, Postaxial hand polydactyly, Horizontal eyebrow, Pul... ORPHA:96168
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Absent circulating B cells, Splenomegaly, Pancytopenia OMIM:620282
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Anemia, Fasting hypoglycemia, Increased body weight, Abnor... ORPHA:264580
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Retrognathia, Small nail, Optic nerve hypoplasia, Corneal opacity, Pulmonic s... OMIM:301056
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis, Hypernatremia, Failure to thrive... OMIM:615508
Specific Granule Deficiency 2
Amelogenesis imperfecta, Nail dysplasia, Osteopenia, Recurrent otitis media, Anemia, Sandal gap, ... OMIM:617475
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Steatorrhea, Myocardial necrosis, Neutropenia, Enlargement of the c... OMIM:260400
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hypophosphatemia, Osteomalacia, Bow... ORPHA:89937
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Astigmatism, Iron deficiency anemia, Sandal gap, Hypotri... OMIM:618885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Vipoma
Increased circulating gonadotropin level, Hypokalemia, Normochromic anemia, Adrenocortical adenom... ORPHA:97282
Cohen Syndrome
Delayed puberty, Childhood-onset truncal obesity, Short metacarpal, Leukopenia, Mitral valve prol... OMIM:216550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased size of the mandible, Low-set ears, Increased mean platelet volume, Downslanted palpebr... OMIM:300048
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, B lymphocytopenia, Arthritis, T lymphocytope... OMIM:601457
Williams Syndrome
Abnormal circulating lipid concentration, Chronic otitis media, Abnormal form of the vertebral bo... ORPHA:904
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hyperuricemia, Splenomegaly, Hypoglycemia, Hypercholesterolemia OMIM:306000
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Osteopenia, Steatorrhea, Tremor, Cardiomyopathy, K... OMIM:212065
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemoly... OMIM:274150
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Conjunctivitis, I... OMIM:603552
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Nail dysplasia, Delayed puberty, Anemia, Corneal erosion, Mitten deformity, Decreased circulating... ORPHA:89842
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Fibular bowing, Enlargement of the costochondral junction, Delayed epiphyseal ossificati... OMIM:600081
Bacterial Toxic-Shock Syndrome
Fasciitis, Myocarditis, Hypocalcemia, Arthritis, Abnormality of the upper limb, Increased circula... ORPHA:36234
Laron Syndrome
Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Delayed eruption of teeth,... ORPHA:633
Celiac Disease, Susceptibility To, 1
Delayed puberty, Rickets, Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, T... OMIM:212750
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Mydriasis, Nor... ORPHA:95613
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Abnormal femur morphology, Abnormal tibia ... ORPHA:1263
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Anemia, Glucose intolerance, Cardiomyopathy, Impair... OMIM:606069
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Hypoglycemic seizures, Delayed puberty, Anemia, Osteopenia, Hy... ORPHA:79259
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Anemia, Fasting hypoglycemia, Ketotic hypoglycemia, Increased body weight, ... ORPHA:79240
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Reduced bone mineral density, Small nail, Bone marrow hypocellul... OMIM:617052
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Hepatoportal Sclerosis
Anemia, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, Hypoalbuminemia, Hyperspl... ORPHA:64743
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Recurrent otitis media, Elevated circulating C-reactive protein conc... OMIM:615559
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Polyarticular arthritis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Sheehan Syndrome
Normochromic anemia, Sensorineural hearing impairment, Decreased circulating cortisol level, Spar... ORPHA:91355
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Hypoparathyroidism, Reduced bone mineral density, Ex... ORPHA:231222
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Failure to thrive, Neutr... OMIM:619644
Anemia, Congenital Dyserythropoietic, Type Ia
Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite ce... OMIM:224120
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Osteolysis, Abnormal hip bone morphology, Joint disl... ORPHA:93160
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Reduced bone mineral density, Hypertrophic cardiomyopath... ORPHA:848
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly... OMIM:615617
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microtia, Sparse hair, Lymphopenia, Craniosynostosis, Accessory spleen, Patent foramen ovale, Hip... OMIM:620005
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Increased bone mineral density, Microcornea, Bilateral sensorine... OMIM:616943
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Marburg Hemorrhagic Fever
Hypokalemia, Neutrophilia in presence of infection, Arthritis, Hyperamylasemia, Abnormal lymphocy... ORPHA:99826
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Anemia, Hemophagocytosis, Sensorineural hearing impairment, Thrombocytopeni... ORPHA:540
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Panniculitis, Delayed eruption of teeth, B lymphocytopenia, Noncompaction cardiomyopathy,... ORPHA:508542
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Mu-Heavy Chain Disease
Anemia, Osteoporosis, Splenomegaly, Abnormal B cell count, Weight loss, Osteolysis ORPHA:100024
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Retrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlob... ORPHA:98791
Intellectual Developmental Disorder, Autosomal Dominant 70
Short palpebral fissure, Retrognathia, Highly arched eyebrow, Optic nerve hypoplasia, Mandibular ... OMIM:620157
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia, Hypothyroidism, Flexion contracture, Cataract, Decreased motor nerve conductio... OMIM:619851
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, Sensorineural hearing impairment, Low... OMIM:615966
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612926
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... OMIM:274000
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Abetalipoproteinemia
Kyphoscoliosis, Osteopenia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Keratoc... ORPHA:14
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Failure to thrive, Absent circulating B cells... OMIM:613501
Hennekam Syndrome
Retrognathia, Supernumerary tooth, Delayed eruption of teeth, Hypocalcemia, Finger syndactyly, Ab... ORPHA:2136
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Sensorineural hearing impairment, Scoliosis, Facial palsy, Absent brai... OMIM:617519
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Cachexia, Vacuolated lympho... ORPHA:275761
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5