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Gene: Ppia MGI:97749

Gene Summary

Name:

peptidylprolyl isomerase A

Synonyms:

cyclophilin A, CypA, CyP-18, Cphn

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
decreased erythrocyte cell number	Ppia^em1(IMPC)Mbp	HOM	Early adult	1.69×10^-06
abnormal eye morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal colon morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
increased spleen weight	Ppia^em1(IMPC)Mbp	HOM	Early adult	4.32×10^-13
abnormal spleen morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
megacolon	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
increased blood urea nitrogen level	Ppia^em1(IMPC)Mbp	HOM	Early adult	8.55×10^-07
microphthalmia	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	9.09×10^-05
cataract	Ppia^em1(IMPC)Mbp	HOM	Early adult	8.46×10^-05
increased mean corpuscular hemoglobin	Ppia^em1(IMPC)Mbp	HOM	Early adult	7.33×10^-05
increased mean corpuscular volume	Ppia^em1(IMPC)Mbp	HOM	Early adult	9.83×10^-05
increased mean platelet volume	Ppia^em1(IMPC)Mbp	HOM	Early adult	7.64×10^-10
decreased heart weight	Ppia^em1(IMPC)Mbp	HOM	Early adult	1.49×10^-07
abnormal auditory brainstem response	Ppia^em1(IMPC)Mbp	HOM	Early adult	2.88×10^-06
increased red blood cell distribution width	Ppia^em1(IMPC)Mbp	HOM	Early adult	4.12×10^-06
decreased body length	Ppia^em1(IMPC)Mbp	HOM	Early adult	2.52×10^-06
enlarged spleen	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Ppia^em1(IMPC)Mbp	HOM	Early adult	2.52×10^-29

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Ppia 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 Ppia (0 diseases)
Human diseases predicted to be associated with Ppia (1480 diseases)

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

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

Disease	Matching phenotypes	Source
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node g...	ORPHA:277
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi...	OMIM:300635
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ...	OMIM:617241
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat...	OMIM:615615
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In...	ORPHA:98813
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymph...	OMIM:209950
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Subarachno...	OMIM:243700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Fetal Cytomegalovirus Syndrome	Splenomegaly, Sensorineural hearing impairment, Anemia, Hepatomegaly	ORPHA:294
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia, Hypertension, Long eyelashes	OMIM:616069
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I...	OMIM:601859
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Complement Component C1S Deficiency	Abnormality of complement system, Hepatitis, Hashimoto thyroiditis	OMIM:613783
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Increased circulating IgE level, ...	OMIM:618282
Immunodeficiency 50	Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level	OMIM:300988
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp...	OMIM:618495
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane...	OMIM:147060
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati...	OMIM:620282
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+...	OMIM:606367
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
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
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Sensorineural hearing impairmen...	ORPHA:182050
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa...	OMIM:269840
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ...	OMIM:618394
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease...	OMIM:619510
Autoimmune Hepatitis	Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg...	ORPHA:2137
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Epicanthus, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat...	ORPHA:33110
Peeling Skin Syndrome 1	Increased circulating IgE level, Palmoplantar hyperhidrosis, Eosinophilia, Erythroderma	OMIM:270300
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv...	ORPHA:449400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci...	OMIM:618459
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat...	ORPHA:2045
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he...	ORPHA:494444
Griscelli Syndrome	Abnormal eyebrow morphology, Hepatomegaly, Abnormal circulating lipid concentration, Abnormality ...	ORPHA:381
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Lymphopenia, Decr...	OMIM:102700
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to...	ORPHA:47
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Recu...	OMIM:604173
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Cleft palate, Persistence of hemoglobin F, Increased mean corpuscular volume, ...	OMIM:300946
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope...	OMIM:155100
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash...	ORPHA:829
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Netherton Syndrome	Recurrent skin infections, Eczema, Allergic rhinitis, Sparse eyebrow, Increased circulating IgE l...	OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu...	ORPHA:37748
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia, Epicanthus	OMIM:613506
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Cleft palate, Mitral valve...	OMIM:612561
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu...	ORPHA:98870
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:619707
Complement Component 4B Deficiency	Decreased circulating complement C4b concentration, Chronic active hepatitis, Recurrent pneumonia...	OMIM:614379
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:619386
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Blepharitis, Ectropion	OMIM:308800
Boutonneuse Fever	Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Vasc...	ORPHA:83313
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Capillary leak, Decreased circulating total IgM, Ascites...	OMIM:615758
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired r...	OMIM:231200
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Allergic rhinitis, Abnormal eyelash morphology, Increased circulatin...	ORPHA:90368
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura...	OMIM:613101
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce...	OMIM:616834
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
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
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Dacryocystitis, Increased circulati...	ORPHA:1163
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Tularemia	Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adeno...	ORPHA:3392
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula...	ORPHA:70578
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyelashes, Sparse eyebrow, Keratitis, Folliculitis, Conjunctivitis, Blepharitis	OMIM:612843
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphad...	ORPHA:549
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Immunodeficiency 56	Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic hepatitis due to c...	OMIM:615207
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra...	OMIM:618805
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media	OMIM:616941
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, E...	ORPHA:449563
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm...	OMIM:209920
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Congenital sensorineural hearing impairment, Elevated circulating cre...	OMIM:617872
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly...	OMIM:616100
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk...	ORPHA:319218
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Acute Lung Injury	Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated...	ORPHA:178320
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Eosinophil...	OMIM:615816
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin r...	ORPHA:331206
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increase...	OMIM:616005
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Raynaud phenomenon, Chronic ...	ORPHA:90280
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Netherton Syndrome	Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Increased circulating IgE level, Decreased c...	ORPHA:634
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Trichohepatoenteric Syndrome 1	Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Incre...	OMIM:222470
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, Cl...	OMIM:612562
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf...	OMIM:301000
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hyperammonemia, Cardiomyopathy, Neutropenia, Pancre...	ORPHA:79312
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co...	OMIM:616740
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse eyelashes, Eczema, Blepharitis, Hypohidrosis	OMIM:618535
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis	OMIM:246650
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Q Fever	Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious encephali...	ORPHA:781
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi...	ORPHA:2169
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Hypertension	ORPHA:79084
Thrombocytopenia 1	Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o...	ORPHA:290
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan...	OMIM:617006
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Skin rash, Elevated circulating C-reactive protein concentration, Increase...	OMIM:615934
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 43	Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab...	OMIM:241600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,...	OMIM:618986
Lathosterolosis	Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol...	OMIM:607330
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p...	OMIM:619705
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Jaundice, Lymphadenopathy, Anemi...	ORPHA:858
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Vasculitis in the skin, Abnormal immunoglobulin level	ORPHA:90159
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Recurrent skin infections, Splenomegaly, Decreased circulating total I...	OMIM:620210
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm...	ORPHA:562639
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis	OMIM:300918
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Atrial septal def...	ORPHA:124
Immunodeficiency 96	Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circu...	OMIM:619774
Primary Biliary Cholangitis	Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Increased...	ORPHA:186
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p...	ORPHA:449395
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal h...	OMIM:152800
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Protruding ear, Increa...	ORPHA:261250
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Chylous Ascites	Ascites, Pancreatitis	ORPHA:1160
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Fat malabsorption, Neutrop...	ORPHA:811
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Lichen Planus Pemphigoides	Conjunctivitis, Blepharitis	ORPHA:254478
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho...	ORPHA:69663
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia...	OMIM:617591
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Xerostomia, He...	ORPHA:227990
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Cardiomyopathy, Pa...	ORPHA:27
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Congestive heart failure, Peritonitis, M...	ORPHA:139507
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Blepharitis	OMIM:602400
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Increase...	OMIM:603552
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Hearing impairment, Pancreatic steatosis, ...	OMIM:617052
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Corneal opacity, Microcornea, Microphthalmia, Median cleft palate	ORPHA:2432
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Cardiac arrest, Pu...	ORPHA:139402
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m...	ORPHA:2314
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Epicanthus, Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B l...	OMIM:614069
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Urban-Rogers-Meyer Syndrome	Upslanted palpebral fissure, Epicanthus, Increased circulating IgE level	ORPHA:3409
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Posteriorly rotated ears, Hemolytic-uremic syndrome, Conductive...	OMIM:611209
Atopic Keratoconjunctivitis	Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B...	ORPHA:163934
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Hypocalcemic ...	ORPHA:83471
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Circulating immune complexes, Splenom...	ORPHA:91138
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Ifap Syndrome 2	Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Angular cheilitis	OMIM:619016
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Impaired T cell function, Abnormality of thyroid physiology, Minimal c...	ORPHA:1830
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytop...	ORPHA:292
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lymphadenopathy, Abdo...	ORPHA:160
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Takenouchi-Kosaki Syndrome	Hypospadias, Posteriorly rotated ears, Increased mean platelet volume, Unilateral renal agenesis,...	OMIM:616737
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ...	ORPHA:99827
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Clouston Syndrome	Sparse eyebrow, Sparse eyelashes, Conjunctivitis, Blepharitis	OMIM:129500
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Chronic ...	ORPHA:33355
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of complement system, Congestive he...	ORPHA:2348
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia	OMIM:620137
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Mahvash Disease	Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia	OMIM:619290
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Propionic Acidemia	Hepatomegaly, Pancytopenia, Eczema, Thrombocytopenia, Cerebellar hemorrhage, Hyperammonemia, Card...	OMIM:606054
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Throm...	OMIM:615085
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu...	OMIM:274150
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Conjunctival icterus, Jaundice, Increased mean corpu...	OMIM:194380
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Absent brainstem auditory responses...	ORPHA:90321
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy...	OMIM:301078
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh...	ORPHA:1304
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Tubulointerstitial n...	OMIM:251000
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease...	OMIM:613385
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating tota...	OMIM:613496
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash	OMIM:619175
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased propo...	ORPHA:275
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc...	ORPHA:99826
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Long eyelashes, Chronic otitis media, Pulmonary arterial hyper...	ORPHA:261279
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Increased circulating IgE level, Imbalanced h...	ORPHA:330015
Congenital Disorder Of Glycosylation, Type Iih	Epicanthus, Elevated circulating aspartate aminotransferase concentration, Elevated circulating c...	OMIM:611182
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon, Conjunctivitis, Bleph...	OMIM:106260
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas...	OMIM:258900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Hepatomegaly, Telangiectasia of the skin, ...	ORPHA:1775
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly...	OMIM:170100
Bone Marrow Failure Syndrome 4	Eczema, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellu...	OMIM:618116
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Hypertension	OMIM:608600
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce...	OMIM:613313
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Hypotension, Arrhythmia, Pancreatitis	ORPHA:188
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ...	OMIM:617744
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Hematemesis, Thrombocytopenia, Jaundice, Hepatitis, Uve...	ORPHA:319251
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Roifman Syndrome	Noncompaction cardiomyopathy, Eczema, Eosinophilia, Recurrent pneumonia, Prominent eyelashes, Dec...	ORPHA:353298
Immunoneurologic Disorder, X-Linked	Neonatal death, Decreased circulating IgG2 level	OMIM:300076
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, EEG abnormality, Reduced haptoglobin level	OMIM:612126
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele...	ORPHA:454836
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Epicanthus, Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytope...	OMIM:242860
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co...	ORPHA:676
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Hypertension, Hyperur...	ORPHA:79083
Hyperlipoproteinemia, Type Id	Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia...	OMIM:615947
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Cheilitis, Conjunctivitis, Blep...	ORPHA:37
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T ly...	OMIM:242700
Cach Syndrome	Nonketotic hyperglycinemia, Optic neuritis, Pancreatitis, Hepatosplenomegaly	ORPHA:135
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Thrombocytopenia, Recurrent pn...	ORPHA:47612
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma...	ORPHA:3162
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hypohidrosis, Hepatitis, Sparse lateral eyebrow	ORPHA:363523
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Increased circulating inosine concentration, Autoimmune hemolytic anemia, Si...	OMIM:613179
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Increased circulating antibody level, Cirrhosis	OMIM:178500
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hy...	ORPHA:172
Yellow Fever	Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra...	ORPHA:99829
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B...	ORPHA:1473
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Hematemesis, Decreased platelet glycoprotein Ib-IX-V, Giant platelet...	ORPHA:274
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Increased c...	OMIM:616050
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious...	ORPHA:2552
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hypothyroidism, Hepatomegaly,...	OMIM:615846
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, A...	ORPHA:284227
Juvenile Xanthogranuloma	Hyphema, Uveitis, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur...	OMIM:230350
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatitis, Bronchiectasi...	ORPHA:391487
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e...	ORPHA:48435
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Abno...	ORPHA:79277
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Ectropion, A...	ORPHA:101330
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia	OMIM:618660
Melioidosis	Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of ...	ORPHA:31202
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Increased circulating IgM level, Arthritis,...	ORPHA:448237
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Downslanted palpebral fissures,...	ORPHA:2643
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N...	OMIM:232220
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic...	ORPHA:447
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid...	OMIM:269200
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Hemolytic anemia, ...	OMIM:619487
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Hypospadias, Increased mean platelet volume, Unilateral renal ...	ORPHA:487796
Subcorneal Pustular Dermatosis	Hyperthyroidism, Pustule, Increased circulating antibody level, Rheumatoid arthritis, Hypothyroidism	ORPHA:48377
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hypothyroidism, Recurre...	OMIM:619750
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co...	OMIM:601495
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Synophrys, Decreased circulating IgG level, Decreased circulatin...	OMIM:300861
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra...	OMIM:614921
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy...	OMIM:124900
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N...	ORPHA:3260
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Decreased activity of NADPH oxidase, Aspiration pne...	ORPHA:431361
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft palate, Hematuria, Microphthalmia, Iris coloboma, Hearing impairment	OMIM:120433
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Microphthal...	OMIM:613730
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Recurrent pneumon...	OMIM:615577
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Myocardial infarction, Thrombocytopenia, Peritonitis, Leukocytosis...	ORPHA:90038
Trichinellosis	Skin rash, Increased circulating IgE level, Retinal hemorrhage, Conjunctivitis, Conjunctival hype...	ORPHA:863
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w...	ORPHA:64744
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Abnormal circulating enzyme concentration or activity, Hemol...	ORPHA:95159
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti...	OMIM:615952
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract, High palate	ORPHA:2528
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Increased circulating ferritin concentration, Elevated transferrin satura...	OMIM:606069
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe...	ORPHA:73263
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia	OMIM:616171
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Abnormality of complement system, Abnorma...	ORPHA:79086
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey...	ORPHA:294023
3-Methylglutaconic Aciduria Type 4	Cataract, Iris hypopigmentation, Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia, H...	ORPHA:67048
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Telecanthus, Elevated circulatin...	ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Pancytopenia, Impaired T cell function, ...	OMIM:614576
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ...	ORPHA:228426
Eec Syndrome	Entropion, Decreased response to growth hormone stimulation test, Sparse eyebrow, Keratitis, Xero...	ORPHA:1896
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cataract, Malabsorption, Splenomegaly, Furrowed tongue, Hamar...	ORPHA:2930
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Vasculit...	ORPHA:343
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Hypertensive c...	ORPHA:544482
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Adrenocorticotropin ...	ORPHA:199296
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pelvic mass, Elevated carcinoma antigen 125 level, Elevated circulating...	ORPHA:370348
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Os...	ORPHA:342
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a...	ORPHA:589
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,...	OMIM:616433
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal...	OMIM:617519
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevated circulating ...	OMIM:248600
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Congenital Fibrinogen Deficiency	Splenic rupture, Volvulus, Developmental cataract, Left ventricular hypertrophy, Microphthalmia, ...	ORPHA:335
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Stromme Syndrome	Accessory spleen, Cataract, Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Scle...	OMIM:243605
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Leukonychia Totalis	Abnormal eyelash morphology, Blepharitis	ORPHA:2387
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal...	ORPHA:90362
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Hypotensi...	ORPHA:83317
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529808
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis, Reduced serum alpha-1-antitrypsin	OMIM:613490
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529799
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Increased circulati...	OMIM:602390
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Epicanthus, Telecanthus, Splenomegaly, Synophrys, Recurrent pneumonia, Thrombocytop...	OMIM:617303
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis	OMIM:238970
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,...	ORPHA:169105
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolyti...	ORPHA:809
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen...	ORPHA:93476
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating creatinine concent...	ORPHA:230
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Cervical lymphadenopathy, Hepatitis...	ORPHA:2331
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Ca...	ORPHA:3386
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Sparse eyelashes, Thrombocytopenia, Hyperhidrosis, Leukopen...	OMIM:305000
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre...	OMIM:610377
Braddock-Carey Syndrome 2	Cleft palate, Atresia of the external auditory canal, Microphthalmia, Thrombocytopenia, Hearing i...	OMIM:619981
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Pneumocystosis	Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul...	ORPHA:723
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Ret...	ORPHA:79078
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Myocardial infarction, Hyperhomocystinemia, Hypermethioninemia, Hepatic steatosis, Pancreatitis	OMIM:236200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome...	ORPHA:1572
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Abnormality iris morphology, Cleft palate, Microphth...	ORPHA:1617
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin...	ORPHA:542323
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Mccune-Albright Syndrome	Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatocellular ...	ORPHA:562
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Jaundice, Gallbladder perforation, Elevated circulati...	ORPHA:521219
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Increased circulating thyroglobulin level, Portal hypertension, Pancrea...	OMIM:610199
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Leukop...	ORPHA:77259
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Elevated circulating creatine kinase concentration, Developmental cataract, Cardiom...	OMIM:613155
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Epicanthus, Elevated circulating alpha-fetoprotein concentration, Synophrys, Upslanted palpebral ...	ORPHA:280633
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomega...	ORPHA:79259
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Paraproteinemia, Elevated circulating creatinine concen...	ORPHA:329918
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microcytic anemia, Optic atrophy, Low-set ears, Dysphagia, Microphthalmia	OMIM:612379
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
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	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Optic atrophy, M...	ORPHA:1466
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal st...	ORPHA:2470
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Hyponatremia, Myocardial infar...	ORPHA:3452
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Jaundice, Hyperli...	ORPHA:444490
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Cat-Eye Syndrome	Hydronephrosis, Microphthalmia, Iris coloboma, Anal atresia, Hearing impairment	ORPHA:195
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Gout, Xanthelasma, Hypertension, Hyp...	OMIM:232200
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Hypothyroidism, Pancreatitis	ORPHA:412057
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He...	OMIM:278000
Tyrosinemia Type 1	Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Angina pectoris, Hyper...	ORPHA:412
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,...	ORPHA:900
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circu...	ORPHA:2298
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Xeroderma Pigmentosum	Conjunctival telangiectasia, Entropion, Telangiectasia of the skin, Keratitis, Ankyloblepharon, T...	ORPHA:910
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, O...	OMIM:611490
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Pyloric stenosis, Hyperammonemia	ORPHA:664
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Cataract, Pyloric stenosis, Abdominal adhesions, Developmental cataract, Low...	OMIM:616395
46,Xy Sex Reversal 4	Sensorineural hearing impairment, Elevated circulating creatinine concentration, Cleft palate, Mi...	OMIM:154230
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Microphthalmia, Cleft palate	OMIM:616570
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Megaloblastic anemia, Sensorineu...	OMIM:222300
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventri...	ORPHA:280365
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho...	ORPHA:75234
Lichen Planopilaris	Pterygium, Hepatitis	ORPHA:525
Lassa Fever	Shock, Increased circulating IgM level, Jaundice, Conjunctivitis	ORPHA:99824
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Elevated circulating C-reactive pro...	ORPHA:97214
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Decrea...	OMIM:240300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:613153
Cat Eye Syndrome	Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Iris coloboma, Total anomalous pulm...	OMIM:115470
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Sensorineural hearing impairment, Hype...	OMIM:619046
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Leukoc...	ORPHA:20
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p...	OMIM:615524
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Entropion, Abn...	ORPHA:36426
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro...	OMIM:256550
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Vesicoureteral reflux, Renal hypoplasia, Anemia, Leukopenia, Micro...	OMIM:603467
Atelis Syndrome 1	Cataract, Ventricular septal defect, Anemia, Leukopenia, Microtia, High palate, Atrial septal def...	OMIM:620184
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin conce...	OMIM:222700
Moebius Syndrome	Epicanthus, Blepharitis, Ptosis	ORPHA:570
Limb-Mammary Syndrome	Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Shigellosis	Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Abnor...	ORPHA:810
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anal atresia	OMIM:617244
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Skin rash, Hypoproteinem...	OMIM:603553
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Decreas...	OMIM:203800
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Splenomegaly, Sensorineural h...	ORPHA:773
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Hypertension, Increased circulating cortisol level, Pancreatitis	OMIM:610475
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest...	ORPHA:75566
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Increased level of galactitol in plasma, Aminoaciduria,...	OMIM:230400
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate...	OMIM:617253
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Renal hypoplasia, Cleft palate, Protruding ear, Lo...	ORPHA:85284
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Thrombocytopenia	OMIM:610333
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Tick-Borne Encephalitis	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Thrombocyto...	ORPHA:297
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites, Ankylo...	OMIM:602361
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Elevated circulating creatinine concentration, Gastroesophageal reflux, ...	OMIM:223900
Dermotrichic Syndrome	Aganglionic megacolon, EEG abnormality, Aminoaciduria, Macrotia, Anemia	ORPHA:99688
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Larg...	ORPHA:728
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Th...	ORPHA:158048
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Exocrine pancreatic insuffi...	OMIM:618268
Lissencephaly 8	Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Right ventricular failure, Decreased prealbumin level, Reduced ...	ORPHA:90363
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia	ORPHA:75233
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Myoc...	ORPHA:206569
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Conductive hearing impairment, Vesicoureteral ...	OMIM:609053
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Decreased circulatin...	ORPHA:199299
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cataract, Abnormal pulmonary valve morphology, Portal hypertension, ...	ORPHA:974
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thromboc...	ORPHA:108
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Entropion, Sud...	ORPHA:537
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph...	OMIM:619463
Macrocephaly/Autism Syndrome	Hepatomegaly, Epicanthus, Splenomegaly, Decreased circulating antibody level, Recurrent otitis me...	OMIM:605309
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis	OMIM:145981
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Hiatus hernia, Persistence of hemoglobin F, Astigmatism, Increased siz...	OMIM:619769
Muckle-Wells Syndrome	Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Leukocytosis, Con...	OMIM:191900
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hepa...	ORPHA:398124
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Posteriorly rotated ears, Unilateral renal agenesis, High, narrow pala...	OMIM:618494
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	OMIM:615181
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Absent eyebrow, Abnormal nasolacrimal system morphology, Eczema, Abnormal eyelid mo...	ORPHA:2273
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia	OMIM:251270
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Optic atrophy	OMIM:274270
Trisomy 13	Anophthalmia, Ventricular septal defect, Cataract, High, narrow palate, Sensorineural hearing imp...	ORPHA:3378
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hyperparathyroidism, Hypermagnesemia, Pancreatitis	OMIM:145980
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Elevated circulating creat...	ORPHA:81
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hearing impair...	OMIM:610023
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Hepatitis, ...	ORPHA:509
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Hepatomegaly, Epicanthus, Bundle branch block, Splenomegaly, Increased cir...	ORPHA:373
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Almond-shaped palpebral fissure, Hypot...	OMIM:212065
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:616428
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju...	OMIM:617321
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Mastocytosis	ORPHA:66661
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia...	OMIM:619260
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-...	OMIM:175500
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocardial infarct...	ORPHA:183
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology	OMIM:602248
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Shock, Skin rash, Maculopapular exanthema, Elevated circulating C-...	ORPHA:319213
Pfapa Syndrome	Splenomegaly, Malabsorption, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Warburg Micro Syndrome 1	Optic atrophy, Developmental cataract, Microcornea, Low-set ears, Microphthalmia, Macrotia	OMIM:600118
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Hypothyroidism, Decreased circulating antibody level, Iron defi...	OMIM:226300
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure	ORPHA:2724
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Low-set ears, Micr...	OMIM:613885
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly	OMIM:617068
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment...	ORPHA:79330
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil...	OMIM:615895
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Posteriorly rotated ears, Corneal opacity,...	ORPHA:899
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Intestinal malrotation, Ectopia lentis, Sensorineural hearing impai...	ORPHA:2712
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract	ORPHA:324416
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Psoriasiform dermatitis, Lacrimal duct stenosis, Decreased lymphocyte p...	ORPHA:221139
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Decreased circulating antibody level	ORPHA:1006
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia, Ventricular septal defect, Large earlobe	OMIM:602501
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Atopic dermatitis, Conjunctivitis	OMIM:603165
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Galactokinase Deficiency	Hepatomegaly, Cataract, Sensorineural hearing impairment, Hepatosplenomegaly, Increased level of ...	ORPHA:79237
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Peroxisome Biogenesis Disorder 11B	Cataract, Hearing impairment, Hepatosplenomegaly	OMIM:614885
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Microphthalmia, Cataract, Abnormality of peripheral nerve conduction	ORPHA:48431
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Macular coloboma, Sensorineural hearing impairment, Elevated amniotic fluid al...	ORPHA:423479
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,...	ORPHA:355
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification	OMIM:167800
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Ataxia-Telangiectasia	Conjunctival telangiectasia, Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated ci...	OMIM:208900
Pierpont Syndrome	Posteriorly rotated ears, Large fleshy ears, Microcornea, Microphthalmia, Micropenis, Hearing imp...	OMIM:602342
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,...	ORPHA:93126
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Protru...	OMIM:620185
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level...	ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Anophthalmia, Intestinal...	ORPHA:2538
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Peters anomaly, Optic ...	ORPHA:494344
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Pierpont Syndrome	Posteriorly rotated ears, Uplifted earlobe, Microcornea, Microphthalmia, Macrotia, Hearing impair...	ORPHA:487825
Fanconi Anemia, Complementation Group E	Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Abnormal heart morphology, Ane...	OMIM:600901
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio...	OMIM:602347
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairment, Low-set ears, Peters a...	OMIM:618652
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen...	ORPHA:370959
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Anal atresia	ORPHA:3469
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly	OMIM:261750
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Pancreatitis	OMIM:600740
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Mixed hearing impairment, Corneal opacity, Cataract, Oligosaccha...	ORPHA:309288
Orthostatic Hypotension 1	Orthostatic hypotension, Increased blood urea nitrogen, High palate, Hypomagnesemia, Nocturia	OMIM:223360
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se...	OMIM:612301
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy...	ORPHA:767
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Tricuspid regurgitation, Tachycardia, Thrombocytopenia, Congestive heart...	ORPHA:505248
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, High palate, Abnormal auditory evoked potentials	OMIM:617523
Microphthalmia, Syndromic 13	Anteverted ears, Microphthalmia, Iris coloboma, Microcornea	OMIM:300915
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Tachycardia, Increased circulating NT-proBNP concentrati...	ORPHA:466677
Glycogen Storage Disease Ic	Hepatomegaly, Hepatoblastoma, Cyclic neutropenia, Chronic pancreatitis, Spider hemangioma, Hyperl...	OMIM:232240
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the s...	ORPHA:85212
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, High palate, Low-set ears, O...	OMIM:251290
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho...	ORPHA:99867
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, In...	ORPHA:99776
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Uveitis, Arthritis, Conjunctivit...	ORPHA:575
Fanconi Anemia, Complementation Group A	Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Abnormal heart morphology, Ane...	OMIM:227650
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopenia, Absence of ...	OMIM:187900
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr...	ORPHA:85443
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Posteriorly rotated ears,...	ORPHA:2328
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical...	OMIM:142680
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyelashes, Lacrimal duct stenosis, Decreased response to growth hormone stimulation test, ...	OMIM:604292
Developmental And Epileptic Encephalopathy 1	EEG with burst suppression, Hypsarrhythmia, Dysphagia, Microphthalmia, Micropenis	OMIM:308350
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Fanconi Anemia, Complementation Group D2	Pancytopenia, Ectopic kidney, Esophageal atresia, Annular pancreas, Reticulocytopenia, Horseshoe ...	OMIM:227646
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Aplasia/Hypoplasia of the earl...	ORPHA:98791
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Cataract, Retinal pigment epithel...	OMIM:614105
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin...	OMIM:606056
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Lymphadenopathy, Arthritis, Conjunc...	ORPHA:36412
Cystic Fibrosis	Hepatomegaly, Recurrent pneumonia, Bronchiectasis, Biliary cirrhosis, Hepatosplenomegaly, Cirrhos...	OMIM:219700
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Micronodul...	OMIM:606003
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic regurgitation, Aortic valve stenosis, Increased circulating antibody level	OMIM:114065
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Sparse eyelashes, Decreased response to growth hormone stimulation test, Sparse eyeb...	OMIM:129900
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Myocarditis, Endocarditis, Arthritis, Arrhythmia	ORPHA:3099
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral regurgitation, Ascites...	ORPHA:2848
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Spondylo-Ocular Syndrome	Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Abnormal...	ORPHA:85194
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Decreased nerve conduction velocity, Thr...	OMIM:214500
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Colchicine Poisoning	Hyponatremia, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Abnormal blood io...	ORPHA:31824
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthritis, Constrictive pericarditis	OMIM:208250
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Intestinal malrotation, Conductive hearing impairment, Cleft...	OMIM:244300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Sclerocornea, Esophage...	ORPHA:77298
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Tyrosinemia, Type I	Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly...	OMIM:276700
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Cockayne Syndrome Type 3	Microcornea, Lentiglobus, Gastroesophageal reflux, Adult onset sensorineural hearing impairment, ...	ORPHA:90324
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Duodenal stenosis, Microtia, Microphthalmia	ORPHA:2547
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Protruding ear,...	OMIM:152950
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Faci...	OMIM:259700
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Pneumonia...	ORPHA:125
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Steato...	OMIM:260400
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Epicanthus, Absent platelet dense granules, Reduced natural killer cell activity, S...	OMIM:608233
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-set ears, ...	ORPHA:1438
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f...	ORPHA:420741
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Optic nerve ...	OMIM:214110
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Congestive heart failure, Leukocytosi...	ORPHA:67
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st...	OMIM:230800
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Cardiomyo...	OMIM:235200
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Hepatosplenomegaly, Ab...	ORPHA:93399
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Atrial septal defect, Micro...	OMIM:300887
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Hypercalciuria, Developmental cataract, Macroglossia, ...	OMIM:618440
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calcification, Hyperphos...	OMIM:127000
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Ane...	OMIM:227645
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Frontonasal Dysplasia 1	Cataract, Low-set ears, Conductive hearing impairment, Microphthalmia, Tetralogy of Fallot, Media...	OMIM:136760
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Epicanthus, Elevated circulating creatine kinase co...	OMIM:242840
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Sensorineur...	OMIM:615249
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Macrotia, Astigmatism, Cataract	OMIM:619694
Meckel Syndrome	Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Access...	ORPHA:564
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop...	ORPHA:79292
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, High palate, Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin rash, Hepatitis	ORPHA:1334
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:608885
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Developmental cataract, EEG abnormality, Perimembranous ventr...	OMIM:618804
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Senso...	ORPHA:585
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Ana...	OMIM:619318
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Iridoc...	OMIM:181000
Mednik Syndrome	Cataract, Jejunal atresia, Sensorineural hearing impairment, Cholestasis, Hepatic fibrosis, Cirrh...	OMIM:609313
Fanconi Anemia, Complementation Group S	Microphthalmia, Narrow palate, Anemia	OMIM:617883
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Cataract, Ventricular septal defect, Low-set ears	ORPHA:93267
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Fanconi Anemia, Complementation Group L	Anal atresia, Unilateral renal agenesis, Esophageal atresia, Renal hypoplasia, Tracheoesophageal ...	OMIM:614083
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Duane-Radial Ray Syndrome	Anal stenosis, Cataract, Ventricular septal defect, Optic disc hypoplasia, Aganglionic megacolon,...	OMIM:607323
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Sclerocornea, Cataract, Peters anomaly,...	OMIM:309801
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Rieger anomaly, Abnormal auditory evoked potentials, Senso...	OMIM:109120
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok...	OMIM:133540
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Optic atroph...	ORPHA:93400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He...	OMIM:612541
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Rena...	OMIM:620005
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Aganglionic megacolon, Abnormal hemoglobin, Sensorineural hearing impairment...	ORPHA:847
Coach Syndrome 1	Hepatomegaly, Optic disc pallor, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Mu...	OMIM:216360
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A...	ORPHA:51636
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of th...	ORPHA:436252
Joubert Syndrome 37	Hepatomegaly, Posteriorly rotated ears, High palate, Low-set ears, Microphthalmia, Micropenis, Hy...	OMIM:619185
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia, Micropenis, Hearing impairment	OMIM:610756
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea	OMIM:235555
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Vesicouretera...	ORPHA:567
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fissure, Downslanted...	OMIM:602562
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Biliary tract abnormality, Membranous subvalvular aortic steno...	ORPHA:3191
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Hereditary Orotic Aciduria	Splenomegaly, Downslanted palpebral fissures, Impaired T cell function, Anemia	ORPHA:30
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis	OMIM:619471
Triploidy	Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Inte...	ORPHA:3376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Dysphagia, Nep...	OMIM:617913
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites	ORPHA:2414
Fryns Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol...	ORPHA:2059
Warburg Micro Syndrome 3	Cataract, Optic atrophy, Narrow palate, Developmental cataract, Microcornea, Shallow anterior cha...	OMIM:614222
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f...	ORPHA:99095
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art...	ORPHA:449280
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Renal hypoplasia	OMIM:615665
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Melas	Wolff-Parkinson-White syndrome, Hypoparathyroidism, Cardiac conduction abnormality, Dilated cardi...	ORPHA:550
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Epicanthus,...	ORPHA:79324
Majeed Syndrome	Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytos...	ORPHA:77297
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Congesti...	ORPHA:98908
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic...	OMIM:616084
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:151660
Icf Syndrome	Epicanthus, Abnormality of neutrophils, Decreased circulating antibody level, Lymphopenia, Anemia	ORPHA:2268
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L...	OMIM:310600
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Hypertension, Increased...	OMIM:215600
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Skin r...	ORPHA:93672
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate	OMIM:600251
Nance-Horan Syndrome	Retinal detachment, Cataract, Protruding ear, Microcornea, Microphthalmia	ORPHA:627
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Fraser Syndrome 2	Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplasia, Ureteral age...	OMIM:617666
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, External ear malformation, Splenomegaly, Spherocytosis, Mi...	ORPHA:251066
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Abnormality of...	ORPHA:33226
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cataract, Sclerocornea, Sensorineural hearing impairment, Microcornea, High palate,...	ORPHA:139471
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Cornelia De Lange Syndrome	Highly arched eyebrow, Curly eyelashes, Synophrys, Long eyelashes, Blepharitis, Thick eyebrow, Pt...	ORPHA:199
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Retinal atrophy, Proteinuria, Abnormal pinna morphology, Abnor...	OMIM:216400
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Pyloric stenosis, Optic atrophy, Microcornea, Macular hyp...	OMIM:147791
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:90051
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Facial palsy, Thromb...	OMIM:259720
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Cleft palate, Ectopic anus, High palate, Low-s...	ORPHA:251038
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Ventricular septal defect, Hypospadias, Uplifted earlobe, Cleft palate, Furrowed tongue...	OMIM:616449
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cata...	ORPHA:2510
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality...	ORPHA:92050
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Psoriasiform dermatitis, Severe B lymphocytop...	ORPHA:293978
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Cataract, Esophageal stricture, Corneal scarring, Anemia, Con...	OMIM:226600
Say-Barber-Miller Syndrome	Eczema, Highly arched eyebrow, Sparse eyebrow, Erythema nodosum, Transient hypogammaglobulinemia ...	ORPHA:3132
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Hypospadias, Aplasia/Hyp...	ORPHA:84
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Bilateral ptosis, Decreased circulating total IgM, Decreased circulating IgG le...	OMIM:620040
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy,...	OMIM:619418
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Microt...	ORPHA:3301
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Multi...	OMIM:601186
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Cataract, ...	ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin...	OMIM:236670
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc	OMIM:201100
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cel...	ORPHA:66628
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Cataract, Cleft palate, Oligosacchariduria, High palate, Microphthalmia	ORPHA:163649
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Oc...	OMIM:615145
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R...	OMIM:221900
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati...	ORPHA:167
Bloom Syndrome	Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Facial tela...	OMIM:210900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Marden-Walker Syndrome	Hypospadias, Dextrocardia, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palate,...	OMIM:248700
Poems Syndrome	Hypothyroidism, Primary adrenal insufficiency, Lymphadenopathy, Pulmonary arterial hypertension, ...	ORPHA:2905
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Microphthalmia, Iris ...	ORPHA:231736
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Optic atrophy, Developmental cataract, Microcornea, Mi...	OMIM:615663
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Bilateral cleft lip and palate, Popliteal pterygium, Low-...	OMIM:619339
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Otodental Syndrome	High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co...	ORPHA:2791
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl...	ORPHA:79329
Cockayne Syndrome	Urinary incontinence, Lentiglobus, Gastroesophageal reflux, Retinal degeneration, Hepatomegaly, R...	ORPHA:191
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Bilateral microphthalmos, Multifocal epileptiform discharges, Abnormal...	ORPHA:369891
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Esophageal varix, ...	OMIM:616028
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cel...	ORPHA:179494
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli...	OMIM:614162
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Cleft palate	OMIM:601349
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hypospadias, Aganglio...	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Dilated cardiom...	OMIM:253800
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, Vasculitis, Hyperhidr...	ORPHA:397
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Nail bed telangiectas...	ORPHA:90291
Congenital Disorder Of Glycosylation, Type Ig	Epicanthus, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemia, Decreased circula...	OMIM:607143
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Sensorineural hearing impairment, Ileus, Heter...	ORPHA:163746
Scheie Syndrome	Hepatomegaly, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Mucopolysaccharidu...	ORPHA:93474
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomegaly, Jaundice, Chol...	OMIM:607626
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Microphthalmia, Iri...	OMIM:212550
Temtamy Syndrome	Microphthalmia, Iris coloboma, Low-set ears	ORPHA:1777
Acute Liver Failure	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis...	ORPHA:90062
Trisomy 10P	Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst...	ORPHA:171929
Cogan Syndrome	Episcleritis, Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va...	ORPHA:1467
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-chole...	ORPHA:401973
Vitreoretinochoroidopathy	Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinop...	OMIM:193220
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Hyp...	ORPHA:99880
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, High palate, Atrial septal defect, Intrahepatic biliar...	OMIM:614866
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnor...	ORPHA:46059
Biemond Syndrome Type 2	Microphthalmia, Hypospadias	ORPHA:141333
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Protruding tongue, Sensorineura...	OMIM:301040
Microphthalmia, Syndromic 5	Anophthalmia, Cataract, Optic nerve hypoplasia, Cleft palate, Microcornea, Microphthalmia, Microp...	OMIM:610125
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Hyp...	ORPHA:143
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias	OMIM:250790
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract, Retinal coloboma	ORPHA:363741
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Cleft palate, Protruding ear, Abnormal heart morphology, Astigmatism, Retinal coloboma,...	OMIM:618571
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Low-s...	ORPHA:404440
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cataract, Retinal coloboma	OMIM:601794
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal detachment, Corneal opacity	ORPHA:2788
Adams-Oliver Syndrome 2	Optic atrophy, Developmental cataract, Protruding ear, Low-set ears, Microphthalmia	OMIM:614219
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Thrombocytopenia, Abnorma...	OMIM:242900
Meckel Syndrome, Type 2	Intestinal malrotation, Cleft palate, Renal cyst, Bile duct proliferation, Microphthalmia	OMIM:603194
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, ...	OMIM:309900
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Sensorineural hearing impairment, Overfolded helix, Micropenis, Low-set ea...	OMIM:243310
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Aplastic anemia, Eczema, Acute lymphoblastic leukemia, Otitis me...	OMIM:223370
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Cupped ear, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale	OMIM:618914
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Overfolded helix, Cupped ear, Low-set ears	OMIM:617101
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hiatus hernia, Optic atr...	OMIM:251300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switc...	OMIM:614878
Fryns Microphthalmia Syndrome	Microphthalmia, Macrotia, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, ...	OMIM:612109
Agel Amyloidosis	Tongue atrophy, Cataract, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, ...	ORPHA:85448
Viss Syndrome	Chronic gastritis, Ptosis, Ectropion, Epidural hemorrhage, Eczema, Increased circulating IgE leve...	OMIM:619472
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Peters anomaly, Atrial septal defect, Microphthalmia	OMIM:614526
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Increased fecal coproporphyrin...	OMIM:263700
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomega...	ORPHA:168577
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Cohen Syndrome	Abnormality of retinal pigmentation, Ventricular septal defect, Aplasia/Hypoplasia of the tongue,...	ORPHA:193
Acro-Renal-Ocular Syndrome	Cataract, Optic disc hypoplasia, Aganglionic megacolon, Conductive hearing impairment, Sensorineu...	ORPHA:959
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Fabry Disease	Conjunctival telangiectasia, Corneal dystrophy, Nephropathy, Achalasia, Nephrotic syndrome, Anemi...	ORPHA:324
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D...	ORPHA:31204
Temtamy Syndrome	Lop ear, Lens luxation, Ectopia lentis, Low-set ears, Microphthalmia, Iris coloboma	OMIM:218340
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Sensorineural hearing impairment, Cataract	OMIM:214150
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Splenomegaly, Macroglossia, Mucopolysacchariduria, Opacification...	ORPHA:583
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Familial Exudative Vitreoretinopathy	Rhegmatogenous retinal detachment, Cataract, Abnormal optic disc morphology, Retinal neovasculari...	ORPHA:891
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga...	ORPHA:30391
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures	ORPHA:405
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
Scleromyxedema	Transient ischemic attack, Abnormality of thyroid physiology, Elevated circulating creatine kinas...	ORPHA:167635
Frontofacionasal Dysplasia	Cataract, Brushfield spots, Cleft palate, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma	ORPHA:1791
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Hypertension, Chronic pancreatitis	OMIM:613159
Curry-Jones Syndrome	Microphthalmia, Iris coloboma, Optic disc coloboma, Intestinal malrotation	ORPHA:1553
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cleft palate	OMIM:164180
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Protruding ear, A...	ORPHA:534
Warburg Micro Syndrome 2	Cataract, Asymmetry of the ears, Optic atrophy, Developmental cataract, Microcornea, Microphthalm...	OMIM:614225
Seckel Syndrome 2	Microphthalmia, Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ...	OMIM:186580
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Cardiomyopathy	ORPHA:1493
Chops Syndrome	Cataract, Ventricular septal defect, Thickened helices, Splenomegaly, High, narrow palate, Optic ...	OMIM:616368
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D...	ORPHA:206443
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, EEG with focal spike waves, EEG with irregular generalized spi...	ORPHA:1942
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Cataract, External ear malformation,...	ORPHA:568
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice...	OMIM:615512
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary va...	ORPHA:2162
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Charge Syndrome	Anophthalmia, Secundum atrial septal defect, Hypocalcemia, Atrial septal defect, Micropenis, Apla...	OMIM:214800
Autoimmune Hypoparathyroidism	Prolonged QT interval, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis, Abnormal...	ORPHA:36913
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Pulmonary...	ORPHA:77261
Moebius Syndrome	Abnormal pinna morphology, Facial diplegia, High palate, Dysphagia, Microphthalmia, Micropenis, B...	OMIM:157900
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Iris hypopigmentation, Abnormality of neutrophils, Ocular albinism, High palate, Hypoch...	ORPHA:2720
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl...	ORPHA:733
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Microphthalmia, Cleft palate	ORPHA:2117
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Cleft palate, Bile duct proliferation, Atrial septal defec...	OMIM:611134
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Abnormal pinna morphology, Sensorineural hearing impairment, Microcornea, High palate, ...	ORPHA:35173
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Cataract, Ventricular septal defect, Hearing im...	ORPHA:488618
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko...	ORPHA:2714
Meckel Syndrome, Type 1	Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl...	OMIM:249000
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Sensorineural hearing impairment, Cleft palate, Protruding ear, Pigmentar...	OMIM:614230
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, High palate,...	ORPHA:284160
Generalized Eruptive Keratoacanthoma	Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Visceral Myopathy 1	Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Hydronephrosis, Uri...	OMIM:155310
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Optic nerve hypoplasia, Urinary incontinence...	ORPHA:101085
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Hearing impairment, Cardiomegaly, Retroperitoneal fibros...	OMIM:602782
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Complete atrioventricular cana...	OMIM:264480
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Posteriorly rotated ears, Pyloric stenosis, Penoscrotal transposition, Anteriorly pl...	OMIM:619148
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation o...	ORPHA:29207
Baraitser-Winter Syndrome 2	Microphthalmia, Abnormal pinna morphology, Hearing impairment	OMIM:614583
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Horseshoe kidney, High palate, Gastroesophageal reflux, Low-set ears, Subv...	ORPHA:65286
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Decreased circulating IgG level, Telangiectasia, Erythroderma	OMIM:601675
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Increas...	OMIM:233450
3P25.3 Microdeletion Syndrome	Ventricular septal defect, High, narrow palate, Pyloric stenosis, Sensorineural hearing impairmen...	ORPHA:435638
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias...	OMIM:206900
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Arthrogryposis, Distal, Type 2A	High palate, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:1135
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Hyperphosph...	ORPHA:93325
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Calcinosis, Erythema no...	OMIM:613471
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lympho...	ORPHA:508542
Trisomy 18	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Ventricular sep...	ORPHA:3380
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment	ORPHA:209956
Japanese Encephalitis	Hyponatremia, Neutrophilia, Increased circulating IgM level, Increased circulating antibody level...	ORPHA:79139
Joubert Syndrome 14	Ventricular septal defect, Posteriorly rotated ears, Optic atrophy, Cleft palate, Renal cyst, Low...	OMIM:614424
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Posteriorly rotated ears, Congenital sensorineural hearing impairment, Microcornea, Iri...	OMIM:617306
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Micro...	ORPHA:464738
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Corneal opacity, Hearing impairment, Ect...	ORPHA:2092
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Ocular albinism, Anteriorly placed anus, Abnormal cardiac septum morphology, Microtia...	ORPHA:1352
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Martsolf Syndrome 1	Cataract, Posteriorly rotated ears, Developmental cataract, Cardiomyopathy, High palate, Low-set ...	OMIM:212720
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Hyperphosphatemia, Hypocalcemia, Low-set ears, Microphthalmia, Micropen...	OMIM:241410
Tetraamelia Syndrome 1	Cataract, Asplenia, Cleft palate, Urethral atresia, Low-set ears, Microphthalmia, Anal atresia	OMIM:273395
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,...	OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Cleft palate, Bupht...	OMIM:613150
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation, Cleft palate, Renal cyst	OMIM:611561
Okur-Chung Neurodevelopmental Syndrome	Ptosis, Epicanthus, Highly arched eyebrow, Synophrys, Decreased circulating antibody level, Epica...	OMIM:617062
Hennekam Syndrome	Ectopic kidney, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis, Pulmonary ly...	ORPHA:2136
Stevenson-Carey Syndrome	Posteriorly rotated ears, Gastroesophageal reflux, Low-set ears, Atrial septal defect, Microphtha...	OMIM:611961
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Gastroesophageal reflux, Conductive hearing impairment, Severe sensorineural hearing impairment, ...	OMIM:620186
Trichothiodystrophy	Ventricular septal defect, High, narrow palate, Bilateral microphthalmos, Increased mean corpuscu...	ORPHA:33364
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Ocular albinism, EEG abnormality, Low-set ears, Neutropenia, Macrotia	OMIM:617050
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Abnormal pinna morphology, Renal cortical cysts, Ren...	ORPHA:1692
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked...	ORPHA:99027
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hydronephrosis	OMIM:619431
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Sclerocornea, Limbal dermoid, Hypoplasia of the iris, Subvalvular aort...	OMIM:613001
Treacher-Collins Syndrome	Hypoplasia of penis, Cataract, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Microtia, H...	ORPHA:861
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ...	OMIM:615113
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Sens...	OMIM:616975
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Cerebrotendinous Xanthomatosis	Optic disc pallor, Juvenile cataract, Optic neuropathy, Abnormal auditory evoked potentials, Decr...	ORPHA:909
Encephalitis Lethargica	Increased circulating antibody level, Bradycardia	ORPHA:83600
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Thrombocytopenia	OMIM:230900
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Bilateral microphthalmos, Cu...	ORPHA:2399
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Increased circulating antibody level, Elevated circulating creatine ...	OMIM:606002
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cleft palate, Microtia, Multiple bladder diverticula, Atrial septal defect, Micropht...	ORPHA:2728
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Heart And Brain Malformation Syndrome	Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, High, narrow palate, Gastr...	OMIM:616920
Frontonasal Dysplasia 3	Low-set ears, Microphthalmia, Posteriorly rotated ears, Cleft palate	OMIM:613456
Monosomy 18P	Cleft palate, Protruding ear, Abnormal antihelix morphology, Microphthalmia, Macrotia	ORPHA:1598
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Keratitis, Leukocytosis, Opt...	OMIM:308300
1Q21.1 Microdeletion Syndrome	Cataract, Sensorineural hearing impairment, Abnormal cardiac septum morphology, High palate, Vesi...	ORPHA:250989
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Mitral valve calcification, Pancytopenia, Corneal opacity, Abnormality of the spleen...	ORPHA:2072
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Abnormal pinna morphology, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Mi...	OMIM:302960
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia...	OMIM:234050
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Corneal opacity, Cardiomegaly, Optic atrophy, Renal cyst...	ORPHA:137675
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormal EKG, Keratitis, Myocarditis, Jaundice, Splenomegaly, Congest...	ORPHA:3385
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, EEG abnormality	OMIM:614833
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Absent gallbladder, Ventricular septal defect...	OMIM:600001
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P...	ORPHA:93932
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ...	ORPHA:221
Glycerol Kinase Deficiency	Hypertriglyceridemia, Adrenal insufficiency, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Steinfeld Syndrome	Absent gallbladder, Abnormal pinna morphology, Hearing impairment, Abnormal heart morphology, Ret...	OMIM:184705
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, P...	OMIM:610651
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration	OMIM:616538
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Aicardi Syndrome	Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Mal...	ORPHA:50
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Shallow anterior chamber, Retinal neovascularization	OMIM:305390
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Optic nerve hy...	ORPHA:508498
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney, Tracheoesophageal fistula, Anotia, Microtia, Atresia o...	ORPHA:268249
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia	OMIM:617914
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Hypospadias, Cornea...	ORPHA:2556
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Hypospadias, External ear malformation, Cleft palate, Microcor...	ORPHA:2505
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Submucous cleft hard palate, Cleft palate, Low-s...	ORPHA:2189
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Tubulointerstitial nephrit...	ORPHA:797
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Peritonitis, Sensorineural hearing impairment, Megacystis, Pyelonephritis,...	OMIM:619351
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea, Protruding ear	OMIM:268320
Pallister-Hall Syndrome	Hydroureter, Ventricular septal defect, Posteriorly rotated ears, Distal urethral duplication, Ec...	OMIM:146510
Okamoto Syndrome	Urinary incontinence, Abnormally large globe, Primum atrial septal defect, Gastroesophageal reflu...	ORPHA:2729
Occipital Horn Syndrome	Jaundice, Hepatitis, Cholestasis, Esophagitis, Downslanted palpebral fissures	ORPHA:198
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, Microcornea, Atrial septal defect, Bifid uvula, Iris coloboma, Hyp...	OMIM:300166
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Cupped ear, Low-set ears	OMIM:167730
Roberts Syndrome	Cataract, External ear malformation, Long penis, Cleft palate, High palate, Polycystic kidney dys...	ORPHA:3103
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Proteinuria, Glomerulonephritis, Sensorineural hearing impairment, Lenticonu...	OMIM:104200
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Ectopia p...	ORPHA:85167
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Mixed hearing impairment, Cataract, Cleft hard palate, Sensorineural hearing impairment, Submucou...	OMIM:300990
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Ectropion	OMIM:278750
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Knobloch Syndrome	Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Pyloric stenosis, Macular degeneratio...	ORPHA:1571
Frontorhiny	Low-set, posteriorly rotated ears, Cataract, Cleft palate, Microphthalmia, Bifid tongue, Congenit...	ORPHA:391474
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278740
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Lymphocytosis, Short eye...	OMIM:258360
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Bilateral microphthalmos, Cleft palate, Microcornea, Microtia, Retinal...	ORPHA:2839
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Posteriorly rotated ears, Optic nerve hypoplasia, High, narrow palate, Bilateral microphthalmos, ...	OMIM:607597
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia, Macrotia	OMIM:302350
Lymphedema-Distichiasis Syndrome	Ectropion, Recurrent skin infections, Tubulointerstitial nephritis, Conjunctivitis, Arrhythmia, D...	ORPHA:33001
Deafness, X-Linked 7	Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear...	OMIM:301018
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovasc...	OMIM:278730
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Leukocytosis, Optic atrophy, R...	OMIM:619321
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Posterior...	ORPHA:116
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, P...	ORPHA:2526
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Cleft palate, Microtia, High palate, Low-set ears, Microphthalmia	OMIM:612530
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence	ORPHA:206448
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Small earlobe, High, narrow palate, Horseshoe kidne...	OMIM:272950
Microphthalmia With Limb Anomalies	Anophthalmia, Posteriorly rotated ears, Cleft palate, High palate, Low-set ears, Microphthalmia	OMIM:206920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Hypospadias, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis, Conjunctivitis	OMIM:610455
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Vesicoureteral reflux, Atrial septal...	ORPHA:857
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Low-set, posteriorly rotated ears, Cleft palate	ORPHA:1915
Alström Syndrome	Decreased response to growth hormone stimulation test, Hepatic fibrosis, Elevated gamma-glutamylt...	ORPHA:64
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Cleft palate, Microcornea, High palate, Low-set ears, Microphthalmia, O...	OMIM:156610
Joubert Syndrome 21	Anophthalmia, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Renal...	OMIM:615636
Cerebrooculofacioskeletal Syndrome 4	Posteriorly rotated ears, Bilateral microphthalmos, Abnormal heart morphology, EEG abnormality, L...	OMIM:610758
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemia, Hypo...	ORPHA:2237
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Abnormal pinna morphology, Hamartoma of tongue, Esophageal diverticulum, Comp...	OMIM:617925
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H...	ORPHA:667
Incontinentia Pigmenti	Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Keratitis, Retinal hemorrhage, Micro...	ORPHA:464
Rothmund-Thomson Syndrome, Type 2	Cataract, Underfolded helix, Overfolded helix, Anteriorly placed anus, Prominent antihelix, Micro...	OMIM:268400
Joubert Syndrome 2	Renal insufficiency, Optic disc coloboma, Renal cyst, High palate, Nephronophthisis, Low-set ears...	OMIM:608091
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect, Chronic neutropen...	ORPHA:500095
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Large earlobe, Low-set ears, Persistent pupillary membrane, Microphthalmia	OMIM:257850
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Hypercholesterolemia, Hypertension, Recurrent panc...	OMIM:606721
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278720
Vacterl With Hydrocephalus	Anophthalmia, Microtia, third degree, Esophageal atresia, Tracheoesophageal fistula, Microcornea,...	ORPHA:3412
Renpenning Syndrome 1	Cataract, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Macrotia, Cup...	OMIM:309500
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Aortic valve stenosis, Impaired T cell function	OMIM:176690
Branchiooculofacial Syndrome	Anophthalmia, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Ectopic thymus ...	OMIM:113620
Charge Syndrome	Anophthalmia, Hypoplasia of the semicircular canal, Gastroesophageal reflux, Vesicoureteral reflu...	ORPHA:138
Cousin Syndrome	Posteriorly rotated ears, Cleft palate, Microcornea, Low-set ears, Microphthalmia, Microglossia, ...	OMIM:260660
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate, Mitral valve prolapse, Hi...	OMIM:618874
Plasminogen Deficiency, Type I	Nephritis, Decreased level of plasminogen, Conjunctivitis, Periodontitis	OMIM:217090
Digeorge Syndrome	Sclerocornea, High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalc...	OMIM:188400
Bartsocas-Papas Syndrome 1	Anal stenosis, Ectopic kidney, Cupped ear, Cleft palate, Popliteal pterygium, Microtia, Low-set e...	OMIM:263650
Aymé-Gripp Syndrome	Pericarditis, Bilateral ptosis, Upslanted palpebral fissure, Long eyelashes, Shallow orbits, Down...	ORPHA:1272
Ohdo Syndrome, X-Linked	Posteriorly rotated ears, Hiatus hernia, Microtia, High palate, Low-set ears, Microphthalmia, Mic...	OMIM:300895
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, Submucous cleft hard palate, Cleft palate, Microphth...	ORPHA:2250
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ...	OMIM:606519
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Abnormal pinna morphology, Conductive hearing impairment, Cleft pal...	OMIM:164200
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Corne...	ORPHA:141099
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Macrotia, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue, Micr...	OMIM:616300
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Uni...	OMIM:619539
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Microphthalmia, Iris coloboma	OMIM:601707
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Narrow palpebral fissure, Hypocalcemia, Blepharophi...	OMIM:192430
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Low-set ears, Microphthalmia, Cleft palate, Protruding ear	OMIM:620098
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Yunis-Varon Syndrome	Cataract, Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Cardiomegaly, Sclero...	ORPHA:3472
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Clef...	ORPHA:2166
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma...	ORPHA:42775
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn...	ORPHA:649
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft hard palate, Gastr...	ORPHA:2152
Meckel Syndrome 14	Hepatic fibrosis, Low-set ears, Polycystic kidney dysplasia, Microphthalmia, Single ventricle	OMIM:619879
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Optic disc coloboma, Cleft palate, Low-set ears, Atrial septal defect,...	ORPHA:251014
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft hard palate, Abnor...	ORPHA:261552
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Low-set ears	ORPHA:228390
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Low-set ears	OMIM:300863
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft hard palate, Vesic...	ORPHA:261537
Fraser Syndrome 1	Abnormal small intestine morphology, Anophthalmia, Hypospadias, Abnormal pinna morphology, Cornea...	OMIM:219000
Aicardi Syndrome	Retinal detachment, Cataract, Hiatus hernia, Optic disc coloboma, Optic atrophy, Cleft palate, He...	OMIM:304050
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft palate, Corneal ulceration, Conjunctivitis, Recurrent corneal er...	OMIM:153400
Basal Cell Nevus Syndrome 1	Cataract, Hamartomatous stomach polyps, Cardiac fibroma, Cleft palate, Cardiac rhabdomyoma, Micro...	OMIM:109400
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Hallermann-Streiff Syndrome	Cataract, High, narrow palate, Optic disc coloboma, Narrow palate, High palate, Low-set ears, Mic...	OMIM:234100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Protru...	OMIM:619534
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypospadias, Abnormal pinna morphology, Absent tragus, Cleft palate, High palate, Atres...	OMIM:603457
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Ayme-Gripp Syndrome	Pericarditis, Upslanted palpebral fissure, Downslanted palpebral fissures, Broad eyebrow, Ptosis	OMIM:601088
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Corneal opacity, Cleft palate, Microphthalmia, Microglossia, Hearing impairment	ORPHA:364577
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Low-set ears	ORPHA:163966
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Complete atr...	OMIM:236680
Mowat-Wilson Syndrome	Cataract, Hypospadias, Ventricular septal defect, Aganglionic megacolon, Uplifted earlobe, Pylori...	OMIM:235730
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia	OMIM:271510
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Sensorine...	ORPHA:637
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Posteriorly rotated ears, Corneal op...	OMIM:608670
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Mixed hearing impairment, Optic atrophy, Cleft palate, Microphthalmia	OMIM:201180
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Atrial sep...	OMIM:243800
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia, Cupped ear, High palate	OMIM:110100
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Hypospadias, Ventricular septal defect, Posteriorly rotated ears, Abn...	OMIM:268300
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Hypospadias, Anophthalmia, Aganglionic megacolon, Abnormal pi...	OMIM:309800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypospadias, Cupped ear, Overfolded helix, Horseshoe kidney, Antecubital pterygium, Popliteal pte...	OMIM:609945
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Anteverted ears, High palate, Low-set ears, Microphthalmia, Micropenis...	OMIM:613884
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Sclerocornea	OMIM:300952
Focal Dermal Hypoplasia	Ureteral duplication, Mixed hearing impairment, Anophthalmia, Intestinal malrotation, Hiatus hern...	OMIM:305600
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect	OMIM:619135
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Sensorineural hearing impairment, Corneal opacity	OMIM:601812
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilat...	ORPHA:468631
Monosomy 9Q22.3	Cataract, Cardiac fibroma, Low-set ears, Microphthalmia, Thickened ears	ORPHA:77301
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Cataract, Protruding ear, Low-set ears, Thickened heli...	ORPHA:1587
Hallermann-Streiff Syndrome	High, narrow palate, Developmental cataract, Glossoptosis, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Myhre Syndrome	Cataract, Ventricular septal defect, Pericardial effusion, Cleft palate, Microtia, Low-set ears, ...	OMIM:139210
Tetrasomy 9P	Absent gallbladder, Epicanthus, Myositis, Pericarditis, Raynaud phenomenon, Jaundice, Biliary atr...	ORPHA:3310
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Ventricular septal defect, Phthisis bulbi, Retinal calcification, Absent ...	OMIM:259770
Microcephaly-Micromelia Syndrome	Low-set ears, Microphthalmia, Cleft palate	OMIM:251230
Fraser Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:2052
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Cleft palate, Microcornea, Microtia, Ure...	OMIM:616734
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Atresia of the external auditory canal, Microphthalmia, Tet...	ORPHA:3186
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Bicuspid aortic valve, Sutural cataract, Muscular ventricular septal defect, Sensorineu...	OMIM:612474
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,...	ORPHA:95455
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Optic atrophy, Horseshoe kidney, Cleft palate, Large earlobe, ...	ORPHA:1106
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cleft palate, Bilateral cleft lip and palate, Prominent ant...	OMIM:610829
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal ...	ORPHA:508488
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Protruding tongue, High, n...	OMIM:612289
Monosomy 9P	Hypospadias, Cleft palate, Abnormal antihelix morphology, Anotia, High palate, Microtia, Low-set ...	ORPHA:261112
Frontonasal Dysplasia 2	Microphthalmia, Low-set ears	OMIM:613451
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft palate	OMIM:603671
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Cataract, Cleft palate, Conductive hearing impairment, Microph...	ORPHA:306542
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Large earlobe, Iris coloboma, Hypoplasia of the ear cartilage	ORPHA:1236
Linear Nevus Sebaceus Syndrome	Microphthalmia, Iris coloboma, EEG abnormality	ORPHA:2612
Momo Syndrome	Bilateral microphthalmos, High palate, Underfolded helix	ORPHA:2563
Microphthalmia, Syndromic 6	Anophthalmia, Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Renal hypoplasia, Cleft p...	OMIM:607932
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia	OMIM:250220
Holoprosencephaly 7	Bilateral cleft palate, Bilateral microphthalmos, Cleft palate, Microphthalmia, Unilateral cleft ...	OMIM:610828
Frontofacionasal Dysplasia	Cataract, Microcornea, Bifid uvula, Microphthalmia, Iris coloboma	OMIM:229400
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis...	ORPHA:109
Witteveen-Kolk Syndrome	Cataract, Hypospadias, Uplifted earlobe, Phimosis, High, narrow palate, Sensorineural hearing imp...	OMIM:613406
Pmm2-Cdg	Elevated hepatic transaminase, Epicanthus, Pericarditis, Angina pectoris, Elevated circulating gr...	ORPHA:79318
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Hypoplastic left heart, Pulmonic ...	OMIM:100300
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Submucous cleft hard palate, Transposition of th...	ORPHA:1662
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Epicanthus, Transient ischemic attack, Sparse eyebrow, Secretory IgA deficien...	ORPHA:500150
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Neu-Laxova Syndrome 1	Cataract, Ventricular septal defect, Cleft palate, Transposition of the great arteries, Low-set e...	OMIM:256520
Holoprosencephaly 2	Median cleft lip and palate, Remnants of the hyaloid vascular system, Submucous cleft hard palate...	OMIM:157170
Pallister-Hall Syndrome	Low-set, posteriorly rotated ears, Auricular tag, Ventricular septal defect, Hypospadias, Unilate...	ORPHA:672
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Nk-Cell Enteropathy	Hematochezia, Increased T cell count	ORPHA:263665
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Unilateral external ear de...	OMIM:164210
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Microtia, A...	OMIM:154500
Isolated Arrhinia	Microphthalmia, Microtia	ORPHA:1134
Holoprosencephaly 1	Microphthalmia, Micropenis, Median cleft lip and palate, Single ventricle	OMIM:236100

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Spleen - MPATH pathological process term hyperplasia	Ppia^em1(IMPC)Mbp	HOM		Early adult

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 Ppia.

No publications found that use IMPC mice or data for Ppia.

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MGI Allele	Allele Type	Produced
Ppia^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ppia^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ppia^em1(IMPC)Mbp	Whole-gene deletion	Mice, Tissue

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: Ppia MGI:97749

Gene Summary

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lacZ Expression

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Human diseases caused by Ppia mutations

Histopathology

IMPC related publications

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