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
abnormal hair growth Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 4.12×10-07
decreased immature B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
absent pinna reflex Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.05×10-18
decreased B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased fasting circulating glucose level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.39×10-31
abnormal ulna morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.82×10-17
decreased bone mineral density Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.25×10-06
decreased circulating amylase level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.89×10-09
increased T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased grip strength Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.68×10-08
abnormal head morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 6.82×10-06
decreased memory CD4-positive, CD25-positive, alpha-beta regulatory T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal bone structure Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.52×10-40
increased circulating sodium level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.52×10-09
abnormal radius morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.05×10-16
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
increased alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased Ly6C low monocyte number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating creatinine level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.25×10-21
decreased circulating thyroxine level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased erythrocyte cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.29×10-16
increased mean corpuscular hemoglobin concentration Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.18×10-06
decreased mature B cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal tibia morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.18×10-19
abnormal humerus morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.51×10-18
decreased lean body mass Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.30×10-19
increased circulating iron level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 7.54×10-18
decreased hemoglobin content Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.38×10-08
increased circulating LDL cholesterol level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased CD11b-high dendritic cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased CD8-positive, alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased bone mineral content Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.02×10-19
increased lean body mass Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 2.32×10-05
decreased total body fat amount Duoxa2tm1b(KOMP)Wtsi HOM Early adult 7.85×10-05
decreased transitional stage T1 B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased circulating serum albumin level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.20×10-22
decreased red blood cell distribution width Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.28×10-15
improved glucose tolerance Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 1.49×10-07
increased CD8-positive, alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased CD8-positive, naive alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased neutrophil 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
increased circulating total protein level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.77×10-16
abnormal snout morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.11×10-12
increased circulating HDL cholesterol level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal vertebrae morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.21×10-10
decreased hematocrit Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.25×10-08
increased T-helper cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal cranium morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.11×10-12
decreased mean platelet volume Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 4.65×10-06
increased circulating cholesterol level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased circulating fructosamine level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 2.66×10-22
increased circulating calcium level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 4.85×10-13
decreased effector memory T-helper cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased body length Duoxa2tm1b(KOMP)Wtsi HOM Early adult 0.00
increased total body fat amount Duoxa2tm1b(KOMP)Wtsi HOM Early adult 8.64×10-18
decreased B-2 B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal zygomatic bone morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.14×10-19
increased CD4-positive, alpha beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased plasmacytoid dendritic cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal joint morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.46×10-16
abnormal clavicle morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.18×10-19
abnormal thoracic cage shape Duoxa2tm1b(KOMP)Wtsi HOM Early adult 6.18×10-15
increased mean corpuscular hemoglobin Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.87×10-27
decreased KLRG1-positive NK cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal eyelid morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.16×10-07
abnormal iris morphology Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 3.49×10-05
increased effector memory CD8-positive, alpha-beta T cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
abnormal femur morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.82×10-17
decreased follicular B cell number Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating glucose level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.09×10-06
abnormal vertebral arch morphology Duoxa2tm1b(KOMP)Wtsi HOM Early adult 3.14×10-19
abnormal auditory brainstem response Duoxa2tm1b(KOMP)Wtsi HOM   Early adult 5.10×10-12
increased blood urea nitrogen level Duoxa2tm1b(KOMP)Wtsi HOM Early adult 1.53×10-06
decreased leukocyte cell number Duoxa2tm1b(KOMP)Wtsi HOM Early adult 5.26×10-12

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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 0.68% (4 of 587)
aorta 0.17% (1 of 592)
blood vessel 0.0%
bone 0.0%
brain 0.85% (5 of 586)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 591)
cerebral cortex 0.34% (2 of 587)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 588)
hippocampus 0.51% (3 of 591)
hypothalamus 0.34% (2 of 590)
kidney 4.57% (27 of 591)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 587)
lymph node 0.17% (1 of 590)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 589)
oviduct 0.0%
pancreas 0.85% (5 of 587)
parathyroid gland 0.18% (1 of 570)
peripheral nervous system 0.34% (2 of 588)
peyer's patch 0.57% (1 of 175)
pituitary gland 0.17% (1 of 594)
prostate gland 2.19% (13 of 593)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 5.26% (31 of 589)
spinal cord 0.51% (3 of 589)
spleen 0.51% (3 of 591)
stomach 3.74% (22 of 589)
striatum 0.51% (3 of 584)
testis 1.02% (6 of 590)
thymus 0.17% (1 of 586)
thyroid gland 2.89% (17 of 589)
trachea 0.51% (3 of 591)
uterus 0.34% (2 of 589)
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.

Spleen Immunophenotyping

Images associated with FACS analysis

114 Images

DSS Histology

Images

8 Images

Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

31 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 Whole Body Lateral Orientation

14 Images

Bone marrow immunophenotyping

Images associated with FACS analysis

10 Images

X-ray

XRay Images Forepaw

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

2 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
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... 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
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... ORPHA:158048
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Hyperproteinemia, Gout, Increased mean corpuscu... ORPHA:90041
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... OMIM:616050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Hypercalcemia, Bowing of the long... ORPHA:436
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... OMIM:619802
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Abnormal hair quantity, Hypoproteinemia, Bilateral s... ORPHA:1116
Hypophosphatasia, Infantile
Failure to thrive, Bowing of the legs, Metaphyseal cupping, Widely patent fontanelles and sutures... OMIM:241500
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Multiple Myeloma
Splenomegaly, Osteopenia, Hyperproteinemia, Pathologic fracture, Elevated circulating creatinine ... ORPHA:29073
Alg12-Cdg
Abnormal pinna morphology, Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Sho... ORPHA:79324
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Short distal phalanx of finger, Mandibular osteomyelitis, Hypocalc... ORPHA:53
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Hypertrichosis, Dermatochalasis, Clinodactyly of the 3rd finger, Cone-shaped epiphysis, Clinodact... ORPHA:221139
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Decreased body weight, Atrial septal defect... ORPHA:1667
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morph... ORPHA:529799
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... ORPHA:398063
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Right atrial enlargement, Restrictive cardiomyopath... OMIM:619313
Mirage Syndrome
Adrenal insufficiency, Decreased body weight, Lymphopenia, Talipes equinovarus, Hypergonadotropic... OMIM:617053
Neuroleptic Malignant Syndrome
Hypomagnesemia, Hypocalcemia, Leukocytosis, Abnormal autonomic nervous system physiology, Oculogy... ORPHA:94093
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Omenn Syndrome
Failure to thrive, Hypoproteinemia, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymu... OMIM:603554
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Abnormal hair morphology, Lymphopenia, Prominent floating ribs OMIM:152800
Mucopolysaccharidosis-Plus Syndrome
Coarse hair, Short neck, Optic atrophy, Long eyelashes, Bone marrow hypocellularity, Flexion cont... OMIM:617303
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Talipes equinovarus, Lymphopenia, Persistence of primary teeth, Supernumerary tooth, Joint hyperm... OMIM:619752
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Ocular albinism, Fair hair, Splenomegaly, Upslanted palpebral f... OMIM:608233
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Joint swelling, Osteomyelitis, Elevated circulating C-reac... OMIM:619381
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... OMIM:212050
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Long nose, Short nose, Severe platyspondyly, Sacral dimple, Narrow greater scia... ORPHA:508533
Rhabdoid Tumor
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia ORPHA:69077
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, S... ORPHA:175
Pelger-Huet Anomaly
Failure to thrive, Kyphosis, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Short... OMIM:169400
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Leukopenia, Hyperuricemia, Diabetes mellitus, Hyponatremia, An... OMIM:613845
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hypercalcemia ORPHA:2123
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia DECIPHER:16
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... OMIM:267700
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of ... ORPHA:3319
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... ORPHA:199299
Oculoskeletodental Syndrome
Hypocalcemia, Low anterior hairline, Splenomegaly, Small for gestational age, Wide nasal bridge, ... OMIM:618440
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hypoplasia of the femoral head, Th... OMIM:209950
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Osteomyelitis, T lympho... ORPHA:443811
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia ORPHA:169095
Oculocerebrodental Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Metaphyseal dysplasia, Hypocalce... ORPHA:557003
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cel... OMIM:619510
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Craniosynostosis, Carious teeth, Optic atrophy, Pancytop... OMIM:259700
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Kyphosis, Abnor... ORPHA:3344
Immunodeficiency 57 With Autoinflammation
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Perianal abscess, Reduced natural killer... OMIM:618108
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Immunodeficiency 54
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Splenomegaly, Reduc... OMIM:609981
Alg8-Cdg
Failure to thrive, Talipes equinovarus, Small for gestational age, Anemia, Brachydactyly, Camptod... ORPHA:79325
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Sensorineural hearing impairment, Bone cyst, Hypercalcemia, Hyperparathyroidism, Anemia ORPHA:2668
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Micrognathia, T lymphocytopenia, Epicanthus, Short nose, Low-set ears, Reduced... OMIM:242860
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis... ORPHA:83601
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Failure to thrive, Abnormal cardiac septum morphology, Hypoprot... ORPHA:2315
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... OMIM:603553
Temple Syndrome
Joint hypermobility, Flexion contracture, Small for gestational age, Maturity-onset diabetes of t... OMIM:616222
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... ORPHA:293978
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Sensorineural hearing impairment, Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopeni... ORPHA:71289
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Abnormality of iron homeostasis, Genu valgum, Bo... ORPHA:231226
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, G... OMIM:612526
Herpes Simplex Virus Encephalitis
EEG abnormality, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosi... ORPHA:1930
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Nephrotic Syndrome, Type 14
Sensorineural hearing impairment, Adrenal insufficiency, Lymphopenia, Hypothyroidism, Hypertrigly... OMIM:617575
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Alopecia, Eosinophilia, Hepatosplenomegaly, Autoim... ORPHA:169154
Camurati-Engelmann Disease
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... ORPHA:1328
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia, Type I diabetes mellitus, Small ... ORPHA:275555
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Failure to thrive, Talipes equinovarus, Short neck, Camptodactyly, Hypothyroidism, ... OMIM:608104
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Sparse eyebrow, Tapered finger, Optic atrophy, Downslanted pa... OMIM:616737
Lathosterolosis
Anisopoikilocytosis, Schistocytosis, Downslanted palpebral fissures, Short nose, Cataract, Talipe... OMIM:607330
Oculocerebrorenal Syndrome Of Lowe
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Platyspondyly, Delayed erupti... ORPHA:534
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... OMIM:617241
Leishmaniasis
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... ORPHA:507
Necrotizing Enterocolitis
Neutropenia, Leukocytosis, Small for gestational age, Hyponatremia, Abnormal glucose homeostasis,... ORPHA:391673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia, Neutropenia OMIM:600351
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Paternal Uniparental Disomy Of Chromosome 1
Recurrent fractures, Episodic hemolytic anemia, Increased blood urea nitrogen, Craniosynostosis, ... ORPHA:251004
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Elevated circulating C-reactive protein concentration, Brachydactyly, B lympho... OMIM:618048
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hypoproteinemia, Leukocytosis, Splenomegaly, Elevated circulating creatine kin... OMIM:615895
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Osteoporosis, Gout, Impaired glucose tolerance, Hypertriglyc... OMIM:610947
Addison Disease
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... ORPHA:85138
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Scarring, Failure to thrive, Increased blood urea nitrogen, ... ORPHA:90321
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Scoliosis, Hypothyroidism, Hypertriglyceridemia, Microcytic a... OMIM:619013
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Lymphopenia, Abnormally low T cell rece... ORPHA:276
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Failure to thrive, Hypocalcemia, Osteomyelitis, Cellulitis, Alo... ORPHA:47
Acute Adrenal Insufficiency
Failure to thrive, Decreased circulating aldosterone level, Sparse axillary hair, Decreased circu... ORPHA:95409
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Hip subluxation, Pancytopenia, Cranial hyperostosis, Hyperbilir... OMIM:259720
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Metaphyseal irregularity, Hypophosphatemia, Recurrent fractures, Aminoaciduria... OMIM:239200
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Increased erythrocyte protoporphyrin concentration, Myeloproliferative... ORPHA:100924
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of the vertebral column, Coxa valga, Hypercalcemia OMIM:191420
Dengue Fever
Leukopenia, Thrombocytopenia, Hypoproteinemia ORPHA:99828
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... ORPHA:91547
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Thin ribs, Congenital hypoparathyroidism, Small hand, Slender long ... OMIM:244460
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... ORPHA:86841
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... OMIM:614732
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Splenomegaly, Inguinal hernia, Micrognathia, Short... OMIM:235255
Rothmund-Thomson Syndrome Type 2
Sparse hair, Metaphyseal sclerosis, Long nose, Osteopenia, Sparse or absent eyelashes, Aplastic a... ORPHA:221016
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Delayed eruption of teeth, Truncal obesity, Hypogly... ORPHA:181393
Syndromic Diarrhea
Bicuspid aortic valve, Lymphopenia, Woolly hair, Inguinal hernia, Splenomegaly, Brittle hair, Sma... ORPHA:84064
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... ORPHA:86839
Trichohepatoenteric Syndrome 1
Sparse hair, Hypermethioninemia, Abnormality of iron homeostasis, Downslanted palpebral fissures,... OMIM:222470
Rothmund-Thomson Syndrome
Sparse hair, Sparse eyebrow, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Carious teet... ORPHA:2909
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Slanting of the palpebral fissure, Tapered finger, Tremor, Short nose, Eruption failure, Clinodac... ORPHA:476126
X-Linked Lymphoproliferative Disease
Histiocytosis, Increased circulating ferritin concentration, Lymphocytosis, Hemophagocytosis, Spl... ORPHA:2442
Legionnaires Disease
Lymphopenia, Cellulitis, Splenomegaly, Endocarditis, Myocarditis, Hyponatremia, Bone marrow hypoc... ORPHA:549
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... ORPHA:2298
Rothmund-Thomson Syndrome Type 1
Sparse hair, Metaphyseal sclerosis, Osteopenia, Sparse or absent eyelashes, Aplastic anemia, Dela... ORPHA:221008
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... OMIM:616828
Shigellosis
Splenic abscess, Corneal ulceration, Leukocytosis, Abscess, Myocarditis, Arthritis, Hypoglycemia,... ORPHA:810
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Art... OMIM:301074
Holoprosencephaly
Abnormal antihelix morphology, Short neck, Optic atrophy, Ventricular septal defect, Omphalocele,... ORPHA:2162
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Hypoalbuminemia, Clubbing of fingers, Cl... OMIM:226300
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... OMIM:210250
Infantile Myofibromatosis
Bone cyst, Chondrocalcinosis, Osteolysis, Hypercalcemia, Abnormal sacrum morphology, Abnormal met... ORPHA:2591
Thrombocytopenia 1
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... OMIM:313900
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Intention tremor, Hypocholest... OMIM:610539
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Hypogonadotropic hypogonadism, Arthrit... OMIM:604250
Leptospirosis
Papilledema, Hyperproteinemia, Chorioretinitis, Uveitis, Pericarditis, Thrombocytopenia, Conjunct... ORPHA:509
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... OMIM:619868
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, ... OMIM:278000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Sensorineural hearing impairment, Impaired epinephrine-induced platelet aggregation, Neutrophil i... OMIM:155100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrichosis, Short neck, Optic atrophy, Short nose, Long eyelashes, Bone marrow hypocellularit... ORPHA:505248
Alpha-Heavy Chain Disease
Alopecia, Anemia, Hypocalcemia, Splenomegaly ORPHA:100025
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Pyruvate Carboxylase Deficiency
Failure to thrive, Hyperlysinemia, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hyp... ORPHA:3008
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Poikilocytosis, ... OMIM:615631
Congenital Enterovirus Infection
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Pericardia... ORPHA:292
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Clinodactyly of the 5th finger, Metaphysea... OMIM:156400
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Alopecia, Osteopenia, Down-sloping shoulde... OMIM:248370
Japanese Encephalitis
EEG abnormality, Eyelid fasciculation, Neutrophilia, Inappropriate antidiuretic hormone secretion... ORPHA:79139
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hypocalcemia, Reduced bone mineral density, Splenomegaly, Abnormality of throm... ORPHA:172
Mandibuloacral Dysplasia
Hyperinsulinemia, Sparse hair, Alopecia, Acroosteolysis of distal phalanges (feet), Increased cir... ORPHA:2457
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinophilia, W... ORPHA:2070
Fanconi Anemia
Abnormality of femur morphology, Abnormal cardiac septum morphology, Abnormality of the upper lim... ORPHA:84
Porphyria Variegata
Hypertrichosis, Back pain, Inappropriate antidiuretic hormone secretion, Abnormal autonomic nervo... ORPHA:79473
Whipple Disease
Splenomegaly, Cachexia, Myocarditis, Arthritis, Hypothyroidism, Pericarditis, Uveitis, Hyponatrem... ORPHA:3452
Fechtner syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, High-frequency sensorineural hearing imp... OMIM:153640
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyebrow, Femoral bowing, Macrocytic anemia, Fair hair, Scoliosis, Joint laxit... OMIM:250250
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Glycogen Storage Disease Vi
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... OMIM:232700
Diffuse Alveolar Hemorrhage
Leukocytosis, Anemia, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia ORPHA:90060
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, Decreased motor nerve conduction velocity, B lymphocytopenia, Hypothyroidism... OMIM:619851
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Joint hypermobility, Maturity-onset diabetes of the young, Small hand, Microg... ORPHA:254531
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Arthritis, Failure to thrive secondary t... OMIM:601457
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Megalocornea, Tapered finger, Downslanted palpebral fissures, Iridodonesis, Abnormal ... ORPHA:2479
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia, Thick hair, Thrombocytopenia, Failure to thrive in infancy ORPHA:263501
Myh9-Related Disease
Sensorineural hearing impairment, Neutrophil inclusion bodies, Congenital thrombocytopenia, Incre... ORPHA:182050
Aicardi-Goutieres Syndrome 2
Dystonia, Lymphocytosis OMIM:610181
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Smith-Magenis Syndrome
EEG abnormality, Abnormality of the thyroid gland, Wide nasal bridge, Brachydactyly, Scoliosis, B... OMIM:182290
Sarcoidosis
Bone cyst, Alopecia, Uveitis, Cataract, Enlarged lacrimal glands, Scarring, Weight loss, Joint sw... ORPHA:797
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ... OMIM:616860
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Sparse eyebrow, Tapered finger, Optic atrophy, Downslanted palpebral fissures, Abnormal heart mor... ORPHA:487796
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Abnormal bone structure, Anemia, Splenomegaly ORPHA:46532
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Dry hair, Ventricular septal defect, Umbilical hern... OMIM:619991
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Craniosynostosis, Osteopenia, Upper limb undergrowth, Abnormal heart morphology, Hypoparathyroidi... ORPHA:369837
Mastocytosis
Recurrent fractures, Splenomegaly, Osteoporosis, Mastocytosis, Chronic leukemia, Hypercalcemia, A... ORPHA:98292
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Retinal hamartoma, ... ORPHA:2911
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Elevated ci... OMIM:607665
Hepatocellular Carcinoma
Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy... ORPHA:88673
Galactokinase Deficiency
Sensorineural hearing impairment, Failure to thrive, Hyperinsulinemia, Nuclear cataract, Small fo... ORPHA:79237
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur,... OMIM:602080
Progeria-Short Stature-Pigmented Nevi Syndrome
Multiple joint contractures, Band keratopathy, Alopecia, Hypergonadotropic hypogonadism, Osteopen... ORPHA:2959
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... OMIM:601705
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... ORPHA:911
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Aminoaciduria, Flexion contracture, Retrognathia, Anisocytosis, Micrognathia, ... OMIM:604273
Congenital Erythropoietic Porphyria
Corneal ulceration, Erythrodontia, Anisocytosis, Osteopenia, Facial hypertrichosis, Osteolysis, R... ORPHA:79277
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Hypoglycemia, Bilateral... ORPHA:230
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Alopecia, Decreased prealbumin level, Type I diabetes mellitus, Failure to thrive in infancy, Abn... ORPHA:37042
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hypocalcemia, Hypoproteinemia, Splenomegaly, Inguinal hernia, Micrognathia, Hepat... ORPHA:1655
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertrichosis, Low anterior ... ORPHA:528
Metaphyseal Anadysplasia
Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop... ORPHA:1040
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Slc35A1-Cdg
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia, Hypopituitarism... ORPHA:90065
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microcytic anemia, Cataract, Hypoalbuminemia, Failure to thrive in infancy OMIM:618805
Snakebite Envenomation
Hypopituitarism, Thrombocytopenia, Hyponatremia ORPHA:449285
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Tapered finger, Narrow palm, Optic atrophy, D... OMIM:216550
Vipoma
Elevated calcitonin, Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating gr... ORPHA:97282
Avian Influenza
Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... ORPHA:454836
Shwachman-Diamond Syndrome 1
Steatorrhea, Metaphyseal sclerosis, Proximal femoral epiphysiolysis, Ovoid vertebral bodies, Panc... OMIM:260400
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Fibrodysplasia Ossificans Progressiva
Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... ORPHA:337
Ménétrier Disease
Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Acquired Partial Lipodystrophy
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Insulin resistance, Hearing impairment ORPHA:79087
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a... ORPHA:89937
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Anisocytosis, Increased RBC distribution width, Schistocytosis, ... OMIM:613673
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Cataract, Nail dys... OMIM:175500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... ORPHA:3104
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Selective Igm Deficiency
Keratitis, Neutropenia in presence of anti-neutropil antibodies, Thyroid carcinoma, Cellulitis, D... ORPHA:331235
Cohen Syndrome
Tapered finger, Narrow palm, Optic atrophy, Downslanted palpebral fissures, Genu valgum, Long eye... ORPHA:193
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Retrognathia, Hypernatremia, Pituitary hyp... OMIM:615926
Pituitary Apoplexy
Adrenocorticotropic hormone deficiency, Pituitary adenoma, Elevated circulating growth hormone co... ORPHA:95613
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... ORPHA:264580
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Splenomegaly OMIM:608971
Smith-Magenis Syndrome
Microcornea, Short nose, Mandibular prognathia, Failure to thrive in infancy, Joint stiffness, Pr... ORPHA:819
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased size of the mandible, Increased mean platelet volume, Downslanted palpebral fissures, L... OMIM:300048
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Schistocytosis, Tremor, Elevated circulating creatinine concentrat... OMIM:274150
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Osteoarthritis, Impaired gluco... OMIM:606069
Specific Granule Deficiency 2
Nail dysplasia, Low-set ears, Abnormal pinna morphology, Hirsutism, Failure to thrive, Fragile na... OMIM:617475
Laron Syndrome
Abnormality of the endocrine system, Short toe, Micrognathia, Osteoarthritis, Brachydactyly, Dela... ORPHA:633
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Kyphosis, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism, Os... OMIM:212065
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Anisopoikilocytosis, Abnormal... ORPHA:231214
Sheehan Syndrome
Central adrenal insufficiency, Decreased circulating cortisol level, Orthostatic hypotension, Cen... ORPHA:91355
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Steatorrhea, Osteopenia, Intraalv... ORPHA:470
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Craniosynostosis, Downslanted palpebral fissures, Ventricular septal defect, Rocker bottom foot, ... OMIM:301056
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Wt Limb-Blood Syndrome
Sensorineural hearing impairment, Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thum... OMIM:194350
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Abnormal pinna morphology, Short toe, Monocytosis, Brachydactyly, Tapered fing... OMIM:610680
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Decreased response to growth hormone... ORPHA:1263
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Hypocalcemia, Osteomyelitis, Cellulitis, Abscess, Elevated... ORPHA:36234
Familial Hemophagocytic Lymphohistiocytosis
Sensorineural hearing impairment, Increased circulating ferritin concentration, Hemophagocytosis,... ORPHA:540
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Reduced bone mineral density, Hypogonadotropic hypogonadism, H... ORPHA:848
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Polyarticular arthritis, Thrombocytosis OMIM:619281
Williams Syndrome
Abnormal cardiac septum morphology, Blue irides, Osteopenia, Megalocornea, Down-sloping shoulders... ORPHA:904
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Hypophosphatemia, Hypocalcemia, Bone cyst, Abnormal adipose tissue morpholog... ORPHA:93160
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... OMIM:619644
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Failure to thrive, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Osteopenia, Osteoporosi... ORPHA:79259
Hepatoportal Sclerosis
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... ORPHA:64743
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Alopecia, Myocarditis,... ORPHA:31824
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Ketotic hypoglycemia, Increased body weight, Elevated circulating creatine kinase c... ORPHA:79240
Mu-Heavy Chain Disease
Splenomegaly, Osteoporosis, Abnormal B cell count, Weight loss, Osteolysis, Anemia ORPHA:100024
Autoimmune Lymphoproliferative Syndrome, Type Iii
Elevated circulating C-reactive protein concentration, Splenomegaly, Increased proportion autorea... OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Beta-Thalassemia Intermedia
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Adrenal i... ORPHA:231222
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Short toe, Talipes equinovarus, Flexion contracture, Aplasia/Hypoplasia of the... ORPHA:98791
Megalocornea-Mental Retardation Syndrome
Large fleshy ears, Low anterior hairline, Genu recurvatum, Arachnodactyly, Osteopenia, Cupped ear... OMIM:249310
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... OMIM:224120
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... OMIM:619824
Aicardi-Goutieres Syndrome 9
Failure to thrive, Chorioretinal atrophy, Hepatosplenomegaly, Left ventricular hypertrophy, Scoli... OMIM:619487
Acrodysostosis
Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Delayed eruption of teeth, Hypoplasi... ORPHA:950
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Short humerus, Brachydactyly, Delayed eruption of teeth, B lymphocytopen... ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iit
Conductive hearing impairment, Small hand, Decreased HDL cholesterol concentration, Decreased ser... OMIM:618885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612922
Celiac Disease, Susceptibility To, 1
Failure to thrive, Hypocalcemia, Steatorrhea, Alopecia, Rickets, Osteoporosis, Iron deficiency an... OMIM:212750
Somatostatinoma
Medullary thyroid carcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Elevated circul... ORPHA:97283
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Glucagonoma
Pituitary adenoma, Abnormality of the thyroid gland, Elevated circulating growth hormone concentr... ORPHA:97280
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Nail dysplasia, Failure to thrive, Decreased body weight, Flexion contracture, Abnormal circulati... ORPHA:89842
Hypophosphatemic Rickets
Periapical tooth abscess, Elevated circulating parathyroid hormone level, Enthesitis, Bowing of t... ORPHA:437
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Marburg Hemorrhagic Fever
Hypokalemia, Lymphopenia, Back pain, Hyperammonemia, Leukopenia, Elevated circulating creatine ki... ORPHA:99826
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Lysosomal Acid Lipase Deficiency
Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Adrenal calcification, Cachexia, Hepatosp... ORPHA:275761
Wilson Disease
Glycosuria, Tremor, Limb dystonia, Hypouricemia, Hypoparathyroidism, Decreased nerve conduction v... OMIM:277900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... OMIM:300908
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Shwachman-Diamond Syndrome
Steatorrhea, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Macrocytic anemia, Carious t... ORPHA:811
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612925
Abetalipoproteinemia
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Failure to thrive, Talipes... ORPHA:14
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... ORPHA:90038
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Anemia, Leukopenia, Glycosuria, Abnormal erythrocyte enzyme level,... ORPHA:447
9Q31.1Q31.3 Microdeletion Syndrome
Short clavicles, Type II diabetes mellitus, Bicuspid aortic valve, Small hand, Highly arched eyeb... ORPHA:401923
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Heart-Hand Syndrome Type 2
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydacty... ORPHA:1350
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair, Craniosynostosis, Severe B lymphocytopenia, 11 pairs of ribs, Tapered finger, Catara... OMIM:620005
Hennekam Syndrome
Conductive hearing impairment, Hypocalcemia, Lymphopenia, Finger syndactyly, Supernumerary tooth,... ORPHA:2136
Monosomy 13Q34
Osteochondrosis, Pulmonic stenosis, Micrognathia, Downslanted palpebral fissures, Epicanthus, Hor... ORPHA:96168
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Hypophosphatemia, Metaphyseal cupping, Hypocalcemia, Elevated circulating par... OMIM:619073
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... ORPHA:370
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... ORPHA:289157
Schimke Immunoosseous Dysplasia
Osteopenia, Coarse hair, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, ... OMIM:242900
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Abnormal pericardium morphology, Constrictive pericarditis, Weight loss, Hypoalbumi... ORPHA:67
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... OMIM:612926
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Generalized aminoaciduria, Hyp... OMIM:251880
Hypervitaminosis A, Susceptibility To
Papilledema, Alopecia totalis, Hypercalcemia OMIM:240150