Gene Summary

Name:
mannosidase 2, alpha B2
Synonyms:
135 kDa alpha-D-mannosidase

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 circulating serum albumin level Man2b2tm1b(KOMP)Wtsi HOM Early adult 5.64×10-05
decreased circulating total protein level Man2b2tm1b(KOMP)Wtsi HOM Early adult 3.55×10-06
enlarged lymph nodes Man2b2tm1b(KOMP)Wtsi HOM Early adult 0.00
abnormal uterus morphology Man2b2tm1b(KOMP)Wtsi HOM Early adult 0.00
small adrenal glands Man2b2tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased lymphocyte cell number Man2b2tm1b(KOMP)Wtsi HOM Early adult 1.12×10-08
increased eosinophil cell number Man2b2tm1b(KOMP)Wtsi HOM Early adult 9.86×10-06
increased neutrophil cell number Man2b2tm1b(KOMP)Wtsi HOM Early adult 2.74×10-09
decreased circulating fructosamine level Man2b2tm1b(KOMP)Wtsi HOM Early adult 2.66×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 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 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 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 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 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 100% (2 of 2)
Lung N/A heterozygote 100% (2 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 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 50% (1 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 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 100% (2 of 2)
Spleen N/A heterozygote Ambiguous
Stomach N/A heterozygote 100% (2 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 50% (1 of 2)
Trachea N/A heterozygote 100% (2 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 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
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.

X-ray

XRay Images Skull Lateral Orientation

29 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

31 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

30 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

Gross Pathology and Tissue Collection

Images

12 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Forepaw

14 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Combined SHIRPA and Dysmorphology

Images

2 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Man2b2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Man2b2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the t... OMIM:603554
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Candidiasis, Familial, 2
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Eosinophilia OMIM:248100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Immunodeficiency 40
Lymphopenia OMIM:616433
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Microcytic anemia, Incre... ORPHA:398063
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anemia, Hep... OMIM:607115
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, An... ORPHA:507
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Reduced natural killer cell count, Th... OMIM:616050
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Secondary Intestinal Lymphangiectasia
Abnormality of the lymphatic system, Hypocalcemia, Lymphopenia, Hypoproteinemia ORPHA:90363
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia OMIM:253600
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypertriglyceridemia, Adrenal insufficiency, Hypoalb... OMIM:617575
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Lymphopenia, Hypoalbuminemia, Abnormality ... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Halothane Hepatitis
Eosinophilia OMIM:234350
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Hepato... OMIM:619013
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Cryptorchidism, Abnormality of the ut... ORPHA:1655
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Eosinophilic Gastroenteritis
Leukocytosis, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Anemia, Eos... ORPHA:2070
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Johanson-Blizzard Syndrome
Hypoproteinemia, Abnormal vagina morphology, Anemia, Hypoplasia of penis, Hypospadias, Abnormalit... ORPHA:2315
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Hypothyroidism, Thrombocytopenia, Hypoalbuminemia, Anemia OMIM:608104
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hypocalcemia, Hypoproteinemia, Cryptorchidism, Thyroid lymphangiecta... OMIM:235255
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Lymph... OMIM:304790
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Lymphadenopathy, Anemi... ORPHA:39041
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Lymphadenitis, Decreased proportion of CD3-positive T cells, Lymphop... ORPHA:331206
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia, Lymphadenopathy ORPHA:353298
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 19
Lymphopenia OMIM:615617
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Increased circulating ferritin concen... ORPHA:167
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Galloway-Mowat Syndrome 6
Hypothyroidism, Hypoalbuminemia, Decreased response to growth hormone stimuation test OMIM:618347
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Wells Syndrome
Eosinophilia ORPHA:901
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia OMIM:608093
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Ane... ORPHA:292
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Microcytic anemia OMIM:618805
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Hypereosinophilia, Elevated circulating C-reactive prot... OMIM:617388
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Thrombocytopenia, Acute myeloid leukemi... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Roifman Syndrome
Lymphadenopathy, Eosinophilia, Splenomegaly OMIM:616651
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Liver abscess, Elevated circulating C-reactive protein concentration,... ORPHA:54251
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Hepatosplenomegaly, Eosinophilia OMIM:618999
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hypothyroidism, Hyperbilirubinemia, Hyponatremia, Neutrope... ORPHA:1667
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Hypogonadotropic ... OMIM:604250
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Hypoproteinemia, Leukocytosis ORPHA:340
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Cyclic Neutropenia
Recurrent tonsillitis, Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, ... ORPHA:2686
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Hyperuricemia, Abn... ORPHA:543
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Abnormality of the testis size, Hyperbilirubinemia, Splenic cys... ORPHA:400
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypotriglyceridemia, Enlarged ovaries, Abnormali... ORPHA:2298
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Anemia, Leukopenia, Bone marrow hyp... OMIM:617303
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, L... OMIM:619151
Avian Influenza
Lymphopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hypoalbumin... ORPHA:454836
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Fanconi Anemia, Complementation Group V
Neutropenia, Elevated alpha-fetoprotein, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Thyroiditis, Eosinophilia, Lymphadenopathy ORPHA:139402
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia, Liver abscess ORPHA:67
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal... ORPHA:404
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Urethral obstruction, Abnormality of the scrotum, Lymphadenitis, ... ORPHA:2035
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers OMIM:602450
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppress... ORPHA:403
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphadenitis, Lymphopenia, Abnormally low T cell receptor exci... OMIM:618986
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypergonadotropic hypogonadism, Hypothyroidism, Hypocholesterolemia, Hypoalbumine... OMIM:212065
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypoalbuminemia, Elevat... ORPHA:64753
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyponatremia, Hypera... ORPHA:90790
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Abscess, Eosinophilia OMIM:615816
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positiv... ORPHA:276
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Igg4-Related Pachymeningitis
Lymphadenitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Parotitis ORPHA:449427
Aspergillosis
Neutropenia, Eosinophilia ORPHA:1163
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Abnormal circulating follicle-sti... ORPHA:99429
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism OMIM:613677
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Elevated circulating luteinizing h... OMIM:612965
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pleural lymphangiectasia,... OMIM:235510
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Cryptorchidism, Hypothyroidism, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia... OMIM:618183
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomeg... ORPHA:29073
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Lymphade... ORPHA:449432
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Netherton Syndrome
Hypereosinophilia OMIM:256500
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Abetalipoproteinemia
Hypotriglyceridemia, Reticulocytosis, Hypothyroidism, Hyperbilirubinemia, Hypocholesterolemia, De... ORPHA:14
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Alveolar Echinococcosis
Cutaneous abscess, Pancreatic cysts, Abnormal spleen morphology, Abnormality of adrenal morpholog... ORPHA:284
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Thrombocytopenia, Clitoral hypertrophy, Increas... ORPHA:96181
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Impaired lymphocyte transformati... OMIM:619313
Al Amyloidosis
Abnormal salivary gland morphology, Increased circulating NT-proBNP concentration, Hypoalbuminemi... ORPHA:85443
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormality of the anterior pituitary, Thyro... ORPHA:449563
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hypoalbuminemia, Anemia, Leukopenia, Hepatosplenomegaly, Bone marrow hypocellul... ORPHA:505248
Igg4-Related Kidney Disease
Prostatitis, Sialadenitis, Abnormality of the anterior pituitary, Lymphadenitis, Thyroiditis, Ele... ORPHA:449395
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormal neutrophil count, Splenomeg... ORPHA:3226
Ataxia-Telangiectasia
Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, De... ORPHA:100
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy ORPHA:79477
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Delayed puberty, Diabetes mellitus OMIM:614162
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Pancreatic cysts, Thrombocytopenia, Anemia, Hepatosplenomegaly, Aplasia of the uter... OMIM:274000
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Azoospermia, Aplasia of the ovary, Urogenital sinus anomaly, B... ORPHA:90797
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Elevated cir... ORPHA:829
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphology, Gonadobl... ORPHA:168563
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Delayed puberty, Decreased serum zinc, Hypoalbu... ORPHA:89842
Pierson Syndrome
Hypoproteinemia OMIM:609049
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612964
Coccidioidomycosis
Granuloma, Abnormal sperm morphology, Lymphadenopathy, Abnormality of the male genitalia, Abnorma... ORPHA:228123
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortisol level, Olig... ORPHA:786
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Anemia, Splenomegaly... ORPHA:3260
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Adrenal hyperplasia, Hypokalemia, Glucocortocoid-insensitive p... ORPHA:231580
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Small scrotum, Pancytopenia, Hypoalbuminemia, Anemia, Bile duct proliferation OMIM:613658
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia, Genital ulcers OMIM:616744
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Incontinentia Pigmenti
Breast hypoplasia, Leukocytosis, Breast aplasia, Hypoplastic nipples, Supernumerary nipple, Eosin... OMIM:308300
Scleroderma
Elevated circulating creatine kinase concentration, Hypereosinophilia ORPHA:801
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Thrombocytopenia, Hypokalemia, Hy... ORPHA:88673
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cushing Disease
Hypokalemia, Diabetes mellitus, Adrenal hyperplasia, Premature ovarian insufficiency, Pituitary a... ORPHA:96253
Hydatidiform Mole
Enlarged uterus, Hyperthyroidism, Anemia ORPHA:99927
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus OMIM:618117
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Hyponatremia, Shawl sc... OMIM:617053
Primary Biliary Cholangitis
Abnormality of the thyroid gland, Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circul... ORPHA:186
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Decreased circulating gonadotropin concentration, Delay... OMIM:614841
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Abnormal circulating renin, Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism ORPHA:369929
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Sarcoidosis
Parotitis, Enlarged lacrimal glands, Hemolytic anemia, Increased T cell count, Abnormal reproduct... ORPHA:797
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Diabetes mel... OMIM:615830
Juvenile Polyposis Of Infancy
Freckled genitalia, Hypoalbuminemia, Anemia, Refractory anemia ORPHA:79076
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Primary Sclerosing Cholangitis
Thyroiditis, Cholelithiasis, Splenomegaly, Type I diabetes mellitus, Hypoalbuminemia, Neoplasm of... ORPHA:171
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Ataxia-Telangiectasia
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Elevated alp... OMIM:208900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Hypoplasia... OMIM:619203
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Diabetes mellitus, Macronodular adrenal hyperplasia ORPHA:189427
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Psoriasis 14, Pustular
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:614204
Juvenile Polyposis Syndrome
Hypoproteinemia, Rectocele, Anemia, Neoplasm of the pancreas, Brain abscess ORPHA:2929
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Herpes Simplex Virus Encephalitis
Neutrophilia, Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1930
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Elevated circu... OMIM:615934
Tetraamelia Syndrome 1
Urethral atresia, Hypoplasia of the fallopian tube, Absent external genitalia, Vaginal atresia, A... OMIM:273395
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mullerian Aplasia And Hyperandrogenism
Abnormality of the endocrine system, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian t... OMIM:158330
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimuation test OMIM:618624
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... OMIM:612310
Incontinentia Pigmenti
Supernumerary nipple, Eosinophilia ORPHA:464
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hypouricemia, Decreased proportion of C... ORPHA:760
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Increased circulating procalcitonin concentration, Elevated circulating C-reactive ... ORPHA:36238
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Absent natural killer ... OMIM:600802
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:1302
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Sex reversal, Ovotestis, Adrenal gland agenesis, Hypospadias OMIM:611812
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Septate vagina, Vaginal atresia, Uterus didelphys, Parathyroid hypoplasia, Diabetes... ORPHA:2237
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenomegaly, Lymphadenopathy OMIM:616100
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity ORPHA:88
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:612852
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Splenomegaly ORPHA:75565
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Premature ovarian insufficiency ORPHA:391307
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Hydrolethalus Syndrome 1
Bifid uterus, Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Hypospadias OMIM:236680
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
Schimke Immunoosseous Dysplasia
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Thrombo... OMIM:242900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Anteriorly displaced urethral meatus OMIM:266810
Satoyoshi Syndrome
Mildly elevated creatine kinase, Hypoplasia of the uterus OMIM:600705
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Hashimoto thyroiditis, Pancytopenia, Splenomegaly, Typ... OMIM:615688
Leptospirosis
Thrombocytopenia, Hyperproteinemia, Lymphadenopathy ORPHA:509
Perrault Syndrome 4
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... OMIM:615300
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Lymphopenia, Hypothyroidism, Ovarian carcino... OMIM:158350
Familial Mediterranean Fever
Leukocytosis, Orchitis, Elevated circulating amyloid A, Elevated circulating C-reactive protein c... OMIM:249100
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia OMIM:615363
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Decreased serum insulin-like growth factor 1, Hypergonadotropic ... OMIM:241080
Legionnaires Disease
Lymphopenia, Hyponatremia, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the ... ORPHA:3464
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Hypoplasia o... ORPHA:3130
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Septate vagina, Uterus didelphys, Hypoparathyroidism, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Lumbar Syndrome
Cryptorchidism, Bifid uterus, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Hypos... ORPHA:83628
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... ORPHA:3243
Whim Syndrome
Lymphadenitis, Lymphopenia, Neutropenia, Cervix cancer, Abnormality of neutrophil morphology, Par... ORPHA:51636
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Increased serum t... ORPHA:247768
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Hypothyroidism, Lymphopenia, Abnormal circulating lipid concentration, Anemia, Di... OMIM:616541
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Agammaglobulinemia, X-Linked
Prostatitis, Lymph node hypoplasia, Epididymitis OMIM:300755
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Hypothyroidism, Lymphopenia, Neutropenia, Lymphad... OMIM:607944
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia, Leukopenia, Lymphadenopathy ORPHA:93552
Seckel Syndrome 7
Central hypothyroidism, Hypoplasia of the uterus OMIM:614851
Pmm2-Cdg
Elevated circulating growth hormone concentration, Aplasia of the ovary, Hyperinsulinemia, Hyperp... ORPHA:79318
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Accessory spleen, Bifid scrotum, Micropenis, Aplasia of the ... OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus ORPHA:3320
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thyroiditis, Lymphopenia, Neutropenia i... ORPHA:391487
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Hypoalbuminemia OMIM:614748
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Lymphadenopathy ORPHA:1572
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Pancreatoblastoma
Pancreatic calcification, Abnormality of the lymph nodes, Elevated maternal serum alpha-fetoprotein ORPHA:677
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic s... OMIM:601186
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Fusariosis
Lung abscess, Lymphopenia, Granuloma, Neutropenia, Abnormality of the spleen, Brain abscess ORPHA:228119
Renal Cysts And Diabetes Syndrome
Maturity-onset diabetes of the young, Elevated circulating creatinine concentration, Hypoplasia o... OMIM:137920
Doors Syndrome
Ambiguous genitalia, Adrenal hyperplasia, Thrombocytosis, Congenital hypothyroidism ORPHA:79500
Oeis Complex
Cryptorchidism, Bifid uterus, Ambiguous genitalia, male, Ambiguous genitalia, female, Rectovagina... OMIM:258040
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Hypothyroidism, Lymphopenia, Increased mean plat... ORPHA:84064
Popliteal Pterygium Syndrome
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Hypoplastic labia ma... OMIM:119500
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Urethral atresia, Cryptorchidism, Absent external genitalia, Persistent cloaca, Aplasia of the ut... ORPHA:94095
Hennekam Syndrome
Hypocalcemia, Lymphopenia, Pulmonary lymphangiectasia, Splenomegaly, Lymphangioma, Lymphadenopathy ORPHA:2136
Acromesomelic Dysplasia, Demirhan Type
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplas... OMIM:614527
Primary Sjögren Syndrome
Vaginal dryness, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Lymphopenia, N... ORPHA:289390
Pontocerebellar Hypoplasia Type 7
Cryptorchidism, Ambiguous genitalia, Microphallus, Absent penis, Abnormal scrotal rugation, Clito... ORPHA:284339
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Japanese Encephalitis
Neutrophilia, Hyponatremia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nip... ORPHA:69085
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:110100
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Hypergonadotropic hypo... ORPHA:572333
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Micropenis OMIM:309801
Charge Syndrome
Hypocalcemia, Cryptorchidism, Hypoplastic male external genitalia, Hypothyroidism, Lymphopenia, A... OMIM:214800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Leukocytosis, Anemia, Microcytic anemia ORPHA:99843
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Uterine rupture, Cystocele, Anemia, Cervical insufficiency, Uterine prolapse OMIM:130050
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve, Hypothyroidism, Rectovaginal fistula... OMIM:107480
Exstrophy-Epispadias Complex
Cryptorchidism, Bifid uterus, Bifid scrotum, Penoscrotal transposition, Cystocele, Absent penis, ... ORPHA:322
Wolf-Hirschhorn Syndrome
Cryptorchidism, Accessory spleen, Hypospadias, Precocious puberty, Aplasia of the uterus OMIM:194190
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Rubinstein-Taybi Syndrome 1
Cryptorchidism, Bifid uterus, Shawl scrotum, Papillary cystadenoma of the epididymis, Hypospadias... OMIM:180849
Coffin-Siris Syndrome 1
Hypospadias, Cryptorchidism, Aplasia of the uterus, Clitoral hypertrophy OMIM:135900
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Scrotal hypoplasia, Hypoplastic nipples, Hypospadias, Anteriorly displaced genita... OMIM:276820
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Uterine rupture, Cystocele, Hypokalemia, Hypospadias, Uterine prolapse ORPHA:286
Norrie Disease
Cryptorchidism, Delayed puberty, Diabetes mellitus, Uterine rupture ORPHA:649
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Peters-Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Bilobate gallbladder, Clitoral hypoplasia, Hypoplastic ... OMIM:261540
Pallister-Killian Syndrome
Cryptorchidism, Small scrotum, Hypoplastic labia majora, Aplasia of the upper vagina, Hypospadias... OMIM:601803
Peters Plus Syndrome
Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Congenital hypothyroidism, Hypospa... ORPHA:709

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Man2b2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Man2b2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020)