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Gene: Sema4d MGI:109244

Gene Summary

Name:

sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D

Synonyms:

semaphorin H, Semacl2, coll-4, CD100, Semcl2, Semaj, M-sema G

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
increased circulating alkaline phosphatase level	Sema4d^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.28×10^-07
enlarged heart	Sema4d^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
cataract	Sema4d^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	9.26×10^-06
decreased bone mineral content	Sema4d^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.76×10^-05
increased total body fat amount	Sema4d^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.61×10^-05
enlarged spleen	Sema4d^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

Download data as: TSV XLS

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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	Wholemount images	heterozygote	50% (1 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Thyroid gland	Wholemount images	heterozygote	50% (1 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Esophagus	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	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	0.0% (0 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	50% (1 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 2)
Footplate	N/A	homozygote	50% (1 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 2)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 2)
Handplate	N/A	homozygote	50% (1 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 2)
Hindlimb	N/A	homozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	Not available
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 2)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	50% (1 of 2)
Tail	N/A	homozygote	50% (1 of 2)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
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)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Echo

M-Mode Images

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Auditory Brain Stem Response

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

4 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

View images

Human diseases caused by Sema4d 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.

Human diseases associated with Sema4d (1 diseases)
Human diseases predicted to be associated with Sema4d (622 diseases)

The table below shows human diseases associated to Sema4d by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Primary Sclerosing Cholangitis		Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga...	ORPHA:171

The table below shows human diseases predicted to be associated to Sema4d by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c...	OMIM:615513
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe...	OMIM:618261
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy, Cataract	ORPHA:79281
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Ethanolaminosis	Cardiomegaly	OMIM:227150
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci...	OMIM:619510
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Galactosemia Iv	Cataract, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:618881
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 102	Decreased circulating IgG level, Hepatomegaly, Increased circulating interleukin 6 concentration,...	OMIM:301082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ...	OMIM:618986
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Galactosemia Ii	Cataract, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s...	OMIM:615767
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Craniosynostosis, Cardiomegaly	ORPHA:88643
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma...	OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Jaundice, Epiphyseal stippling	OMIM:614876
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells...	ORPHA:276
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg...	OMIM:612526
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia	OMIM:618660
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D...	ORPHA:169160
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade...	ORPHA:397596
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma	ORPHA:882
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Trichomegaly	Cataract	OMIM:190330
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Proteus Syndrome	Splenomegaly, Limbal dermoid, Facial hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostos...	OMIM:176920
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Cataract	ORPHA:79238
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ...	ORPHA:33355
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib...	OMIM:300635
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia	ORPHA:1802
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacu...	OMIM:256550
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat...	OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma...	OMIM:226990
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia	ORPHA:172
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Galactose Mutarotase Deficiency	Hepatomegaly, Cataract, Hypergalactosemia, Cholestasis	ORPHA:570422
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Abnormal heart valve morphology, Splen...	ORPHA:93476
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l...	OMIM:269920
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ...	OMIM:242860
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration	OMIM:615184
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce...	OMIM:616433
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop...	ORPHA:79292
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased...	OMIM:300755
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Stiff Skin Syndrome	Cataract, Lipodystrophy, Bicuspid aortic valve, Elbow flexion contracture, Knee flexion contractu...	OMIM:184900
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Mulibrey Nanism	Hepatomegaly, Corneal dystrophy, Cardiomegaly, Thickened cortex of long bones, Myocardial fibrosi...	OMIM:253250
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Osteoporo...	OMIM:235200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Immunodeficiency 22	Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion...	OMIM:615758
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura...	OMIM:606069
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Corneal opacity, Splenomegaly, Flexion contracture, Osteoporosis, ...	ORPHA:87876
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Hyperferritinemia With Or Without Cataract	Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract	OMIM:600886
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata...	ORPHA:79301
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel...	ORPHA:90362
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia...	OMIM:102700
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Left atrial enlargem...	OMIM:300280
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Joint contracture, Cataract, Elevated circulating creatine kinase concentration	OMIM:615704
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic steat...	OMIM:618805
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Ataxia-Telangiectasia	Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level	ORPHA:100
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Cardiomegaly	OMIM:613576
Chilblain Lupus	Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria	OMIM:252920
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Ataxia-Telangiectasia	Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ...	OMIM:208900
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly	OMIM:619064
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Ventricular septal defect, Splenomegaly, Jaundice, Anemi...	ORPHA:290
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti...	ORPHA:540
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,...	OMIM:614702
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Cataract 47	Microcornea, Cataract	OMIM:612018
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat...	ORPHA:275
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho...	OMIM:617591
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Decreased circulating antibo...	ORPHA:169105
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Left v...	OMIM:615418
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale	OMIM:618652
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D...	ORPHA:42
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Refsum Disease, Classic	Cardiomyopathy, Cataract, Elevated circulating phytanic acid concentration, Cardiomegaly	OMIM:266500
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge...	OMIM:619183
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati...	OMIM:300972
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Galactokinase Deficiency	Hepatomegaly, Cataract, Hepatosplenomegaly, Increased level of galactitol in plasma, Nuclear cata...	ORPHA:79237
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Os...	OMIM:611490
Roifman Syndrome	Eosinophilia, Lymphadenopathy, Decreased circulating antibody level, Hepatosplenomegaly, Decrease...	ORPHA:353298
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Cardiomegaly	ORPHA:3137
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo...	OMIM:209920
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Osteopenia, Anemia	OMIM:618107
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, A...	OMIM:617713
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, In...	ORPHA:465508
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o...	OMIM:239850
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Hyperostosis, Limbal dermo...	ORPHA:2969
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level...	ORPHA:1572
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Beta-Thalassemia Intermedia	Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad...	ORPHA:231222
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit...	OMIM:618886
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin...	ORPHA:77259
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca...	ORPHA:59303
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Microcytic anemia	OMIM:619750
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cataract, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevate...	OMIM:608836
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Fucosidosis	Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder	ORPHA:349
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr...	ORPHA:508533
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L...	OMIM:242840
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of finger, Ventricular septal defect, Camptodactyly of finger, ...	OMIM:602782
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Adams-Oliver Syndrome 5	Inguinal hernia, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrop...	OMIM:616028
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Splenomegaly, Asymmetric septal hypertrophy, Umbilical hernia, Den...	OMIM:252900
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic cysts, Abnormality o...	ORPHA:400
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp...	ORPHA:79083
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Sagitta...	OMIM:610199
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Ventricular septal defect, Cardiomegaly, Flexion contracture, Decreased skull ossific...	OMIM:616897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	ORPHA:280365
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun...	OMIM:170100
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level	OMIM:617425
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Increase...	ORPHA:2137
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Sp...	OMIM:612852
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:608885
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes...	OMIM:226300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ...	ORPHA:324410
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly	ORPHA:99931
Thymoma	Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Abnormal lymphocyte ph...	ORPHA:99867
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly,...	ORPHA:14
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:363705
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Mucopolysaccharidosis Type 7	Inguinal hernia, Corneal opacity, Splenomegaly, Hepatitis, Epiphyseal stippling, Umbilical hernia...	ORPHA:584
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Transketolase Deficiency	Hepatomegaly, Cataract, Ventricular septal defect, Abnormal heart morphology, Conjunctivitis, Atr...	ORPHA:488618
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	ORPHA:391428
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells	OMIM:307200
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Aniridia-Absent Patella Syndrome	Aniridia, Inguinal hernia, Cataract	ORPHA:1069
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Amelogenes...	ORPHA:169090
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ...	OMIM:615688
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,...	OMIM:263700
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227990
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Atrial septal defect, Inguinal hernia, Bicuspid aortic valve, Craniosynostosis, Cardi...	OMIM:245600
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia	ORPHA:2959
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cyst...	OMIM:269700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Cardiomegaly	OMIM:613320
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Abnormal thymus morphology, Loss of truncal subcutaneous adipose tissue...	ORPHA:2463
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreased circulati...	ORPHA:227982
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Mucopolysaccharidosis Type 3	Hepatomegaly, Craniofacial hyperostosis, Cataract, Corneal opacity, Inguinal hernia, Cardiomegaly...	ORPHA:581
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate...	OMIM:208540
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cyst...	OMIM:608594
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Arthrogryposis mu...	OMIM:608013
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot...	ORPHA:79330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,...	OMIM:252500
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
Cantú Syndrome	Abnormal heart valve morphology, Cardiomegaly, Osteoporosis, Umbilical hernia, Hypertrophic cardi...	ORPHA:1517
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Campt...	OMIM:256040
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli...	ORPHA:125
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Perianal abscess, Iron deficiency anemia, Lymp...	OMIM:301074
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Lethal Congenital Contracture Syndrome 10	Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus	OMIM:617022
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid...	ORPHA:567983
Q Fever	Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy, Abnormality o...	ORPHA:781
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce...	OMIM:620306
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Tortuosity...	OMIM:230000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Cranial hyperostosis	OMIM:612918
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron...	OMIM:619991
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Decreased circulating antibody le...	ORPHA:289390
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A...	ORPHA:293978
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Increase...	ORPHA:77261
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Scarring, Abnormal circulating porphyrin concentration, Splenomegal...	ORPHA:95159
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Osteop...	OMIM:232220
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Umbilical hernia, Arthr...	OMIM:618143
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu...	OMIM:276700
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal...	ORPHA:77293
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the ga...	ORPHA:171
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Cardiomyopathy, Cardiomegaly	ORPHA:158687
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contractu...	ORPHA:365
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Dev...	ORPHA:51
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Inguinal hernia, Bicuspid aortic valve, Cardiomegaly, Abnormality iris morphology, Abnormality of...	ORPHA:91387
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Megalocornea, Congenital ...	ORPHA:137675
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Cardiomegaly	ORPHA:79280
Ogden Syndrome	Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardi...	OMIM:300855
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:116
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega...	ORPHA:904
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno...	OMIM:181000
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Bohring-Opitz Syndrome	Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abnormal cardiac septu...	ORPHA:97297
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Umbilical hernia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, ...	OMIM:130650
Yunis-Varon Syndrome	Cataract, Ventricular septal defect, Absent sternal ossification, Sclerocornea, Cardiomegaly, Dec...	ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Osteomalacia, Cardiomegaly, Pericardial effusion, Hepatic calcification,...	ORPHA:51608
Singleton-Merten Syndrome 1	Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O...	OMIM:182250

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 Sema4d

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 Sema4d.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A heterozygous germline CD100 mutation in a family with primary sclerosing cholangitis.	Science translational medicine (February 2021)	Sema4d^{tm1a(EUCOMM)Wtsi}	33627483

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MGI Allele	Allele Type	Produced
Sema4d^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sema4d^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Sema4d^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sema4d^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sema4d MGI:109244

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

Embryo LacZ

X-ray

Adult LacZ

X-ray

Auditory Brain Stem Response

Immunophenotyping

Immunophenotyping

Human diseases caused by Sema4d mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data