Gene Summary

Name:
ring finger protein 20
Synonyms:
4833430L21Rik

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
embryonic lethality prior to organogenesis Rnf20tm1.1(KOMP)Vlcg HOM   E9.5 0.00
abnormal behavior Rnf20tm1.1(KOMP)Vlcg HET Early adult 6.67×10-05
prenatal lethality prior to heart atrial septation Rnf20tm1.1(KOMP)Vlcg HOM   E15.5 0.00
decreased thigmotaxis Rnf20tm1.1(KOMP)Vlcg HET Early adult 6.67×10-05
preweaning lethality, complete penetrance Rnf20tm1.1(KOMP)Vlcg HOM   Early adult 0.00
hyperactivity Rnf20tm1.1(KOMP)Vlcg HET Early adult 7.87×10-05

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 50% (1 of 2)
Hypothalamus N/A heterozygote 50% (1 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 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)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct 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 0.0% (0 of 2)
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle N/A heterozygote 50% (1 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis 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)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 50% (1 of 2)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (6 of 6)
Brain N/A heterozygote 100% (6 of 6)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 6)
Ear N/A heterozygote 0.0% (0 of 6)
Embryo N/A heterozygote 100% (6 of 6)
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 6)
Forebrain N/A heterozygote 100% (6 of 6)
Forelimb N/A heterozygote 100% (6 of 6)
Gut N/A heterozygote 0.0% (0 of 6)
Handplate N/A heterozygote 0.0% (0 of 6)
Head N/A heterozygote 0.0% (0 of 6)
Heart N/A heterozygote 100% (6 of 6)
Hindbrain N/A heterozygote 100% (6 of 6)
Hindlimb N/A heterozygote 100% (6 of 6)
Liver N/A heterozygote 0.0% (0 of 6)
Lung N/A heterozygote 0.0% (0 of 6)
Mandibular process N/A heterozygote 100% (6 of 6)
Maxillary process N/A heterozygote Ambiguous
Midbrain N/A heterozygote 100% (6 of 6)
Nose N/A heterozygote 0.0% (0 of 6)
Oral cavity N/A heterozygote Ambiguous
Skeleton N/A heterozygote 100% (6 of 6)
Skin N/A heterozygote 100% (6 of 6)
Spinal cord N/A heterozygote 100% (6 of 6)
Tail somite N/A heterozygote 0.0% (0 of 6)
Tail N/A heterozygote 100% (6 of 6)
Trachea N/A heterozygote 0.0% (0 of 6)
Urinary system N/A heterozygote Ambiguous

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)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
esophagus 1.72% (7 of 408)
eye 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%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 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%
vascular system 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

16 Images

Adult LacZ

LacZ Images Section

17 Images

Embryo LacZ

LacZ images wholemount

24 Images

Eye Morphology

Images Slit Lamp

10 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Human diseases caused by Rnf20 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 Rnf20 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Aggressive behavior, Hyperactivity OMIM:309548
Autism, Susceptibility To, X-Linked 4
Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:300830
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Adenocarcinoma of the colon, Neoplasm of the gastrointestinal tract, Prostate c... ORPHA:157794
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Mental Retardation, Autosomal Dominant 52
Anxiety, Hyperactivity OMIM:617796
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Recurrent otitis media, Hepato... OMIM:618495
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Failure to thrive, Colitis OMIM:615947
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Chronic diarrhea,... OMIM:619281
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Functional intestinal obstruction, Ovarian neo... ORPHA:100079
Mental Retardation, Autosomal Recessive 37
Aggressive behavior, Hyperactivity OMIM:615493
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Failure to th... OMIM:269840
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Weight loss, Jaundice, Cirrhosis, Uveitis, Acute hepati... ORPHA:171
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Incre... OMIM:615767
Gilles De La Tourette Syndrome
Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder OMIM:137580
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... OMIM:617006
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Irritability, Hyperactivity OMIM:616657
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, D... OMIM:615897
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Aggressive behavior, Hyperactivity ORPHA:356996
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Chronic diarrhea, B-cell lymphoma, Colitis, ... OMIM:619164
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Anorexia, B-cell lymphoma, Splenomegaly, ... ORPHA:52416
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Immunodeficiency 37
Decreased circulating antibody level, Encephalitis, Decreased proportion of central memory CD4-po... OMIM:616098
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Alpha-Heavy Chain Disease
Abdominal pain, Lymphoma, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Abno... ORPHA:100025
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Decreased CD69 upregulation upon TCR activation, Decreased specific... OMIM:300853
Autoinflammation With Infantile Enterocolitis
Skin rash, Reduced natural killer cell activity, Villous atrophy, Pancytopenia, Thrombocytopenia,... OMIM:616050
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Inflammation of the large intes... OMIM:618108
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Hepatosplenomeg... OMIM:604416
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Myelodysplasia, Adenocarcinoma... ORPHA:124
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the liver... ORPHA:424016
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Viral hepatitis, Villous atrophy, Panhypogammaglobulinemia, Neutropenia, Biliar... OMIM:209920
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Neutropenia, Maculopapular exanthema, Abnormality of tumor necrosis factor secretion, ... ORPHA:540
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating a... OMIM:616100
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Chronic gastritis, Dysphagia, Neutropenia, Colitis, Diarrhea... OMIM:608809
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Pneumonia, Hepatomegaly, ... OMIM:608971
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum ... ORPHA:3261
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Abnormality of the peritoneum,... ORPHA:26790
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Abdominal pain, Rectal prolapse, Diarrhea... OMIM:174900
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly, Colitis ORPHA:88643
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Increased circulating IgE level, Lymphopenia, Recurrent otitis... ORPHA:277
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Diarrhea, R... OMIM:266600
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
5-Oxoprolinase Deficiency
Vomiting, Abdominal pain, Diarrhea, Enterocolitis OMIM:260005
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Colitis, Leukopenia, Bone marrow hypoc... OMIM:615190
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymp... ORPHA:66661
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Familial Adenomatous Polyposis
Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, ... ORPHA:733
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Immunodeficiency, Common Variable, 7
Chronic diarrhea, Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circ... OMIM:614699
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Decreased liver fu... ORPHA:2442
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Cirrhosis, Gastrointestinal hemorrhage, Abd... ORPHA:2137
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaire... OMIM:618935
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Decreased circulating antibo... OMIM:615122
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Jaundice, Hepatomegaly, Failure to thrive, Splenomegaly, Malabsorption ORPHA:172
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, B-cell lymphoma, Hepatomegaly, Lymphoma, Anorexia, Breast carcinoma, Splenomegaly, L... ORPHA:86893
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Visceral Myopathy 2
Megaduodenum, Esophagitis, Hiatus hernia, Dysphagia, Gastroesophageal reflux, Ineffective esophag... OMIM:619350
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Sotos Syndrome 3
Hyperactivity OMIM:617169
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Helicob... OMIM:618131
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Diarrhea, Anemia, Splenomegaly, Failure to... OMIM:618963
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myelodysplasia, Myeloid leukemia, Increased circula... ORPHA:48104
Trichohepatoenteric Syndrome 2
Cirrhosis, Villous atrophy, Colitis, Hepatomegaly, Hepatitis, Diarrhea, Small for gestational age... OMIM:614602
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Constipation, Villous atrophy, Aganglionic megacolon,... ORPHA:95427
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropen... ORPHA:37042
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:79301
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Decreased circulating antibody level, Acu... ORPHA:2585
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Hyperprolinemia, Type I
Aggressive behavior, Ataxia, Hyperactivity OMIM:239500
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Hepatomegaly, Abnormal B cell count, Anemia, S... ORPHA:100024
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenom... ORPHA:37748
Cronkhite-Canada Syndrome
Abdominal pain, Gastrointestinal carcinoma, Anorexia, Neoplasm, Furrowed tongue, Hepatomegaly, Sp... ORPHA:2930
Pfapa Syndrome
Abdominal pain, Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Nausea and vomiting, Malab... ORPHA:42642
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Sweet Syndrome
Inflammation of the large intestine, Pustule, Abnormal serum interleukin level, Leukocytosis, Chr... ORPHA:3243
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Congenital Bile Acid Synthesis Defect Type 3
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepat... ORPHA:79302
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Linear Iga Dermatosis
Inflammation of the large intestine, Renal neoplasm, Bladder neoplasm ORPHA:46488
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Mannosidosis, Beta A, Lysosomal
Aggressive behavior, Hyperactivity OMIM:248510
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Decreased specific anti-polysaccharide antibody l... OMIM:614576
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Chronic hepatic failure, Biliary tract abnormality... ORPHA:79303
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... OMIM:613011
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Abdominal pain, Decreased eosinophil count, Lymphopenia, Peri... ORPHA:2686
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Failur... OMIM:618999
Hodgkin Lymphoma
Weight loss, Lymphoma, Neoplasm, Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy ORPHA:98293
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Weight loss, Diarrhea OMIM:191390
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Decreased body weight, Cyanosis, Increased circulating interleukin 6, ... ORPHA:90051
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Thrombocytosis, Increased circulating IgE level, Defective T cell proliferati... OMIM:618213
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Chronic lymphatic leukemia, Chronic diarrhe... OMIM:616005
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal exudate, Vomiting, Allergic rhinitis, Abnormal peristalsis, Nausea, Gastroesophageal r... ORPHA:411696
Immunodeficiency By Defective Expression Of Mhc Class Ii
Skin rash, Decreased proportion of CD4-positive helper T cells, Sclerosing cholangitis, Panhypoga... ORPHA:572
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Kaposi's sarcoma, Splenomegaly OMIM:615593
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Wiskott-Aldrich Syndrome, Autosomal Dominant
Inflammation of the large intestine, Iron deficiency anemia, Decreased mean platelet volume, Incr... OMIM:600903
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Villous atrophy, Lymphopenia, Panhypogammaglobulinemia, Increased mean... ORPHA:84064
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Shigellosis
Peritonitis, Pneumonia, Failure to thrive in infancy, Anorexia, Myocarditis, Vomiting, Bloody dia... ORPHA:810
Mental Retardation, Autosomal Recessive 39
Aggressive behavior, Hyperactivity OMIM:615541
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Ulcerative colitis, Decreased circulating IgA level, Interstitia... OMIM:614878
Galactosemia Iii
Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly, Vomiting OMIM:230350
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Dec... ORPHA:1572
Wolman Disease
Bone-marrow foam cells, Malnutrition, Esophageal varix, Steatorrhea, Hepatomegaly, Ascites, Anemi... ORPHA:75233
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Splenomegaly, Recurrent pancreatitis OMIM:118830
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Diarrhea, Fai... OMIM:211600
Galactose Epimerase Deficiency
Feeding difficulties, Weight loss, Hepatomegaly, Jaundice, Splenomegaly, Nausea and vomiting ORPHA:79238
Leishmaniasis
Increased circulating antibody level, Abnormal macrophage morphology, Weight loss, Anorexia, Panc... ORPHA:507
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Feeding difficulties, Increased circulating antibody level, Thrombocytopenia, ... OMIM:615846
Classic Hodgkin Lymphoma
Skin rash, Poor appetite, Weight loss, Lymphoma, Neoplasm, Hepatomegaly, Anorexia, Splenomegaly, ... ORPHA:391
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
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, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Cholesteryl Ester Storage Disease
Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Diarrhea, Hepatic failure, Splenomegaly, Nau... ORPHA:75234
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Erysipelas, Splenomegaly, ... OMIM:214900
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Diarrhea, Failure to thrive, Splenomegaly, Poor appetite OMIM:201100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Allergic rhinitis, Malnutrition, Exocrine pancreatic insufficiency, Steatorrhea, Hepat... OMIM:612714
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Ataxia, Hyperactivity OMIM:612716
Gaucher Disease, Type Ii
Feeding difficulties, Protuberant abdomen, Dysphagia, Thrombocytopenia, Hepatomegaly, Anemia, Spl... OMIM:230900
Adult Acute Respiratory Distress Syndrome
Abnormal serum interleukin level, Pneumonia, Abnormality of tumor necrosis factor secretion, Incr... ORPHA:70578
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Iga Pemphigus
Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, Monoclonal... ORPHA:555905
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions... ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegaly, Intermittent jaundic... OMIM:601847
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Diarrhea, Oropharyngeal squamous cell carcinoma, Eczema, Autoimmune ... ORPHA:391487
Lysosomal Acid Lipase Deficiency
Vacuolated lymphocytes, Diarrhea, Leukopenia, Anemia, Vomiting, Hypersplenism, Bone-marrow foam c... OMIM:278000
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Thyroiditis, Rheumatoid arthritis, Ulcerative colitis, Duodenal divertic... OMIM:223320
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Chronic otitis media, Weight loss, Thrombocytopenia, H... ORPHA:3226
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctiviti... OMIM:603552
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Decreased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:331206
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Abdominal cramps, Maculopapular exanthema, H... ORPHA:98848
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Failure to thrive in infancy, Colitis, Increased circulating in... OMIM:301220
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Classic Mycosis Fungoides
Skin rash, Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Eczema, Cutaneou... ORPHA:2584
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Coproporphyria, Hereditary
Abdominal pain, Constipation, Hepatomegaly, Jaundice, Diarrhea, Splenomegaly, Vomiting OMIM:121300
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Constrictive pericarditis, Abdominal pain, Leukocytosis, Weight loss, Liver absces... ORPHA:67
Sézary Syndrome
Neoplasm of the skin, Erythroderma, Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splen... ORPHA:3162
Systemic Mastocytosis With Associated Hematologic Neoplasm
Weight loss, Chronic myelomonocytic leukemia, Diarrhea, Abnormal mast cell morphology, Neutrophil... ORPHA:98849
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Uveitis, Punctate keratitis, Hepatomegaly, Increased ci... OMIM:617388
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait ORPHA:411515
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly, Obesity OMIM:605309
Follicular Lymphoma
Abnormality of the peritoneum, Weight loss, Lymphoma, Splenomegaly, Mediastinal lymphadenopathy, ... ORPHA:545
Sandhoff Disease
Hepatomegaly, Failure to thrive, Splenomegaly ORPHA:796
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Chronic hepatitis, Anemia, Neutrophilia, Vomiting, Eczema, Eosinophi... ORPHA:3260
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Alpha-Thalassemia
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomega... ORPHA:846
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Chronic diarrhea, Pyod... OMIM:242700
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Acne, Palmoplantar pustulosis, Weight loss, Anemi... ORPHA:324964
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Acute Lung Injury
Abnormality of serum cytokine level, Pneumonia, Acute pancreatitis, Increased circulating interle... ORPHA:178320
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Abdominal pain, Lymphadenitis, Leukocytosis, Rena... OMIM:260920
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Combined Saposin Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly OMIM:611721
Primary Myelofibrosis
Poikilocytosis, Hemangioma, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Anorexia,... ORPHA:824
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Intussusce... ORPHA:90038
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Hyperactivity ORPHA:101039
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Felty Syndrome
Recurrent pneumonia, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Neutrope... ORPHA:47612
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Hepatitis, Diarrhea, He... OMIM:613812
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Abdominal pain, Neonatal cholestatic liver disease, Bilia... ORPHA:1414
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormality of T cell physiology, Iridocyclitis, Bronchiecta... OMIM:181000
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Feeding difficulties, Chronic diarrhea, Hepatomegaly, Hepatic failure, Splenomegaly, F... OMIM:613489
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Dysphagia, Abnormal lymphocy... ORPHA:100026
Prolidase Deficiency
Recurrent pneumonia, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Prolon... OMIM:170100
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, D... OMIM:607765
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Abdominal pain, Hepatomegaly, Splenomegaly, Lymphadenop... OMIM:618852
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Jaundice, Diarrhea, Hepatic failure, Splenom... OMIM:235555
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, He... OMIM:603554
Osteopetrosis, Autosomal Recessive 8
Feeding difficulties, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Failure to thrive OMIM:615085
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Diarrhea, Splenomegaly, Portal fibro... OMIM:602347
American Trypanosomiasis
Skin rash, Abdominal pain, Aganglionic megacolon, Achalasia, Hepatomegaly, Diarrhea, Encephalitis... ORPHA:3386
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Synovitis, W... ORPHA:77297
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Diarrhea, Myocarditis, Vomiting, Bloody diarrhea, Gastrointestinal infarctions, Nausea... ORPHA:544482
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Abdominal pain, Leukocytosis, Splenomegaly, Recurrent aphthous stomatitis, Erythema no... OMIM:611762
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Impulsivity, Hyperactivity ORPHA:500180
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Increased circulating IgM level, Interlobular bil... ORPHA:562639
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Feeding difficulties, Abdominal pain, Neutropenia, Anorexia, Thrombocytopenia, Hepatomegaly, Sple... ORPHA:79312
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Lymphopenia, Panniculitis, Thrombocytopenia, Hep... OMIM:617591
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Gastroesophageal reflux, Hepatom... OMIM:201475
Zygomycosis
Peritonitis, Pericarditis, Ileitis, Neutropenia, Melena, Diarrhea, Sinusitis, Vomiting, Myocardit... ORPHA:73263
Esophagitis, Eosinophilic, 1
Esophagitis, Dysphagia, Failure to thrive, Vomiting, Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Esophagitis, Dysphagia, Failure to thrive, Vomiting, Eosinophilia OMIM:613412
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Chronic diarrhea, Erythroderma, Pneumo... ORPHA:39041
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Splenomegaly ORPHA:664
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Aicardi-Goutieres Syndrome 4
Feeding difficulties, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly, Failure to thrive, Hig... OMIM:269920
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:457260
Caroli Disease
Weight loss, Anorexia, Jaundice, Vomiting, Cirrhosis, Intrahepatic cholestasis, Nausea, Cholangit... ORPHA:53035
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Leukopenia, Anemia, Eczema, Lymphadenopathy, Recurrent otitis media, Pan... OMIM:615688
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Failure to thrive, Splenomegaly, Arthritis OMIM:228000
Babesiosis
Hemolytic anemia, Nausea and vomiting, Anorexia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukop... ORPHA:108
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Abdominal pain, Hepatic steatosis, Villous atrophy, Cholelithiasis, Biliary hyperplasi... ORPHA:567983
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly OMIM:226990
Chronic Granulomatous Disease
Abnormality of neutrophils, Otitis media, Liver abscess, Hepatomegaly, Sinusitis, Inflammatory ab... ORPHA:379
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Immunodeficiency 54
Lymphoproliferative disorder, Hepatomegaly, Reduced natural killer cell count, Failure to thrive,... OMIM:609981
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Gaucher Disease, Type Iii
Decreased body weight, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly, Vomiting OMIM:618892
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Hepatomegaly, Ascites, Splenomegaly, Cyanosis ORPHA:2414
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Mastocytosis
Chronic leukemia, Gastrointestinal hemorrhage, Anorexia, Hepatomegaly, Diarrhea, Sarcoma, Splenom... ORPHA:98292
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Periodontitis, Esophageal stricture,... ORPHA:2908
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Typhoid
Skin rash, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Hepatomegaly, Diarrhea, Enc... ORPHA:99745
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Colitis, Abdominal pain, Hematochezia OMIM:203300
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233710
Wiskott-Aldrich Syndrome
Chronic leukemia, Neutropenia, Neoplasm, Anemia, Sinusitis, Eczema, Otitis media, Acute leukemia,... ORPHA:906
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Hepatic failure,... OMIM:616828
Graves Disease, Susceptibility To, 1
Irritability, Hyperactivity OMIM:275000
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Abnormal proportion of naive CD4 T cells, Lym... ORPHA:1830
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis OMIM:105200
Aicardi-Goutieres Syndrome 1
Multiple gastric polyps, Acrocyanosis, Chilblains, Thrombocytopenia, Hepatomegaly, Prolonged neon... OMIM:225750
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Abdominal pain, Palmoplantar pustulosis,... ORPHA:793
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Acute hepatic failure, Weight loss, Thrombocytopen... ORPHA:905
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Whipple Disease
Pericarditis, Gastrointestinal hemorrhage, Abdominal pain, Uveitis, Anorexia, Hepatomegaly, Diarr... ORPHA:3452
Brucellosis
Pericarditis, Pneumonia, Weight loss, Anorexia, Increased circulating IgG level, Small for gestat... ORPHA:1304
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Exocrine pancreatic insufficiency, Abdominal pain, Steatorrhea, Colitis, ... ORPHA:309031
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Chronic diarrhea, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Hashimoto thyroid... OMIM:613385
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233690
Proteus Syndrome
Hemangioma, Multiple lipomas, Splenomegaly, Lymphangioma, Lipoma OMIM:176920
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Lipodystrophy, Congenital Generalized, Type 4
Feeding difficulties, Dysphagia, Constipation, Hepatic steatosis, Hepatomegaly, Decreased circula... OMIM:613327
Adult-Onset Still Disease
Skin rash, Pericarditis, Abdominal pain, Leukocytosis, Myocarditis, Generalized lymphadenopathy, ... ORPHA:829
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Fluctuating splenomegaly, F... OMIM:610377
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Juvenile Idiopathic Arthritis
Skin rash, Abdominal pain, Uveitis, Hepatomegaly, Psoriasiform dermatitis, Splenomegaly, Mediasti... ORPHA:92
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Abnormality of neutrophils, Lymphoma, Hepatomegaly, Normocytic anemi... ORPHA:33226
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Chronic oral candidiasis, Reduced natural killer cell activity, Recurrent ot... OMIM:608233
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Enlarged kidney, Protuberant abdomen, Hepatocellular adenoma... ORPHA:79259
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Aggressive behavior, Hyperactivity OMIM:615286
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Protuberant abdomen, Constipation, Sea-blue histiocyto... OMIM:257200
Gaucher Disease Type 1
Cirrhosis, Abdominal pain, Increased circulating antibody level, Biliary tract obstruction, Pancy... ORPHA:77259
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Diarrhea, Splenomegaly, Nausea and vomiting, Lymphadenopathy ORPHA:56425
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Hypomagnesemia, Seizures, And Mental Retardation 2
Self-biting, Hyperactivity OMIM:618314
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Viral hepatitis, Hepat... ORPHA:91138
Hypocomplementemic Urticarial Vasculitis
Skin rash, Abdominal pain, Uveitis, Lymphoma, Hepatomegaly, Conjunctivitis, Episcleritis, Diarrhe... ORPHA:36412
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Hepatocellular carcinoma, Extramedullary he... ORPHA:231222
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Gastroesophageal reflux, ... ORPHA:809
Hemochromatosis, Type 2A
Hepatomegaly, Arthritis, Cirrhosis, Splenomegaly OMIM:602390
Congenital Disorder Of Glycosylation, Type Ie
Hemangioma, Hepatomegaly, Failure to thrive, Splenomegaly, High, narrow palate OMIM:608799
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency