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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
increased circulating alkaline phosphatase level	Ppia^em1(IMPC)Mbp	HOM	Early adult	2.32×10^-29
abnormal eye morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean corpuscular volume	Ppia^em1(IMPC)Mbp	HOM	Early adult	9.83×10^-05
increased mean corpuscular hemoglobin	Ppia^em1(IMPC)Mbp	HOM	Early adult	7.33×10^-05
abnormal colon morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	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
cataract	Ppia^em1(IMPC)Mbp	HOM	Early adult	1.21×10^-05
megacolon	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
increased spleen weight	Ppia^em1(IMPC)Mbp	HOM	Early adult	4.32×10^-13
decreased body length	Ppia^em1(IMPC)Mbp	HOM	Early adult	2.35×10^-06
increased red blood cell distribution width	Ppia^em1(IMPC)Mbp	HOM	Early adult	4.12×10^-06
abnormal vitreous body morphology	Ppia^em1(IMPC)Mbp	HOM	Early adult	1.24×10^-05
enlarged spleen	Ppia^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal auditory brainstem response	Ppia^em1(IMPC)Mbp	HOM	Early adult	3.00×10^-06
decreased heart weight	Ppia^em1(IMPC)Mbp	HOM	Early adult	1.49×10^-07
increased mean platelet volume	Ppia^em1(IMPC)Mbp	HOM	Early adult	7.64×10^-10

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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 (1523 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	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Incr...	OMIM:615767
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	OMIM:300400
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl...	OMIM:209950
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Blepharitis, Erythroderma, Pustule	OMIM:614328
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat...	ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Reduced natural killer c...	OMIM:619752
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Increased circulating IgE level, Long eyelashes, Pustule, Hypertension	OMIM:616069
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h...	OMIM:601859
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Complement Component C1S Deficiency	Hashimoto thyroiditis, Abnormality of complement system, Hepatitis	OMIM:613783
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,...	OMIM:613494
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Epicanthus, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increa...	OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph...	OMIM:618495
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Hepatomegaly...	OMIM:308240
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Autoimmune thrombocytopenia, R...	OMIM:301082
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal mal...	OMIM:300048
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Presenile cataracts, Renal insufficiency, Sensorineural ...	ORPHA:182050
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz...	OMIM:243700
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Epicanthus, Arthritis, S...	ORPHA:33110
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor...	OMIM:300946
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Palmoplantar hyperhidrosis, Erythroderma	OMIM:270300
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero...	OMIM:617021
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Neutrophilic infiltration...	OMIM:618048
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Abnormal eyela...	ORPHA:2045
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Progressive sensorineural hearing impairment, Iron deficiency anemia, Thrombocytopenia, Neutropen...	ORPHA:494444
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD...	ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Corneal neovascularization, Punctat...	OMIM:617388
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Hypocalcemia, Abnormality of the lympha...	ORPHA:47
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Abnorm...	ORPHA:381
Poikiloderma With Neutropenia	Recurrent pneumonia, Sparse eyebrow, Increased circulating lactate dehydrogenase concentration, S...	OMIM:604173
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Sparse eyebrow, Eczematoid dermatitis, Increa...	OMIM:256500
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Sensorine...	OMIM:155100
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl...	OMIM:615214
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Congenital Dyserythropoietic Anemia Type Iii	Melena, Increased circulating iron concentration, Increased mean corpuscular volume, Increased to...	ORPHA:98870
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia, Epicanthus	OMIM:613506
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S...	ORPHA:397596
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Diamond-Blackfan Anemia 6	Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobi...	OMIM:612561
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Schnitzler Syndrome	Vasculitis, Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anem...	ORPHA:37748
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Le...	ORPHA:83313
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis	ORPHA:90368
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Elevated cir...	ORPHA:2902
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Adren...	OMIM:619386
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Complement Component 4B Deficiency	Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ...	OMIM:614379
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Ectropion, Conjunctivitis, Blepharitis	OMIM:308800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Abnormality o...	ORPHA:70578
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Infectious enceph...	ORPHA:549
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-induced plate...	OMIM:231200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 22	Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o...	OMIM:615758
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concentration, Decreased ...	OMIM:616834
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis	OMIM:612843
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Infectious encepha...	OMIM:209920
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Shock, Ab...	ORPHA:178320
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody l...	ORPHA:319218
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elev...	OMIM:618805
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Combined Oxidative Phosphorylation Deficiency 34	Congenital sensorineural hearing impairment, Pancytopenia, Elevated circulating creatinine concen...	OMIM:617872
Immunodeficiency 23	Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin...	OMIM:615816
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Cerebral hemorrha...	OMIM:301081
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Netherton Syndrome	Sparse eyebrow, Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Sparse eyelash...	ORPHA:634
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospad...	OMIM:222470
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Prostatitis, Abnormal lacrimal gland morphology, Elevated circul...	ORPHA:449563
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Hearing impairment, Atresia of the external auditory canal, Se...	OMIM:612562
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp...	OMIM:618935
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG leve...	OMIM:226990
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Colitis...	ORPHA:84064
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c...	OMIM:613501
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu...	OMIM:616098
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Dec...	OMIM:307200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Inflammation of the large intestine, Recurrent pneumo...	OMIM:617718
Cholestasis, Benign Recurrent Intrahepatic, 1	Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles...	OMIM:243300
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Peripheral retinal atrophy, Leukopenia, Elliptocytosis,...	OMIM:616959
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr...	ORPHA:231111
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Decreased circulating antibod...	OMIM:616740
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Increased circulating IgE level, Abnormal delayed hypersensi...	OMIM:301000
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Blepharitis, Eczematoid dermatitis, Hypohidrosis, Sparse eyelashes	OMIM:618535
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Endocarditis, Vasculitis,...	ORPHA:781
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Neutropenia, Thrombocyt...	ORPHA:79312
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Hearing impairment, Pancytopenia, Abnormality of the liver, Ma...	ORPHA:2169
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Pelger-Huet Anomaly	Giant platelets, Recurrent otitis media, Median cleft palate, Ventricular septal defect, Hyposegm...	OMIM:169400
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia	OMIM:193670
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a...	ORPHA:906
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia	OMIM:246650
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Lymphopenia, Leukopenia, Malar rash, Skin rash, Follicular hyperplasia, Pustule, M...	OMIM:615934
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Congenital Rubella Syndrome	Cataract, Microphthalmia, Splenomegaly, Aplasia/Hypoplasia of the iris, Sensorineural hearing imp...	ORPHA:290
Thrombocytopenia 1	Decreased mean platelet volume, Epistaxis, Eczematoid dermatitis, Increased circulating IgE level...	OMIM:313900
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertension	ORPHA:79084
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Impaired lymph...	OMIM:617006
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac...	OMIM:618108
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Congenital Toxoplasmosis	Hearing impairment, Ascites, Abnormality of retinal pigmentation, Cardiomegaly, Hepatomegaly, Lym...	ORPHA:858
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Eczematoid dermatitis, Increa...	OMIM:619774
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Vasculitis in the skin	ORPHA:90159
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, ...	ORPHA:231226
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem...	OMIM:152800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park...	OMIM:619705
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c...	OMIM:620210
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a...	OMIM:618213
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Igg4-Related Submandibular Gland Disease	Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating co...	ORPHA:449432
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis	OMIM:300918
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt...	ORPHA:436159
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate...	ORPHA:124
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Hearing impairment, Thrombocytopenia, Overfolded helix, High palate, Micro...	OMIM:620475
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia...	OMIM:611590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairment, Astigmatism, Ventr...	ORPHA:261250
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Proteinuria, Hyp...	OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El...	OMIM:613812
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Chylous Ascites	Ascites, Pancreatitis	ORPHA:1160
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Vernal Keratoconjunctivitis	Allergic conjunctivitis, Corneal neovascularization, Conjunctival hyperemia, Keratoconjunctivitis...	ORPHA:70476
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Vasculitis, Gastrointestinal hemorrhage, Vira...	ORPHA:91139
Lichen Planus Pemphigoides	Conjunctivitis, Blepharitis	ORPHA:254478
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Skin rash, Hypertriglycerid...	OMIM:617591
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Shwachman-Diamond Syndrome	Aplastic anemia, Hearing impairment, Pancytopenia, Increased serum bile acid concentration, Impai...	ORPHA:811
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thromb...	ORPHA:27
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ...	ORPHA:540
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg...	OMIM:277410
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltrat...	OMIM:615508
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Hypohidrosis, Blepharitis	OMIM:602400
Candidiasis, Familial, 8	Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Skin rash, Splenomegaly, Hepatome...	OMIM:603552
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphaden...	ORPHA:100025
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Median cleft palate, Corneal opacity, Microphthalmia, Hepatomegaly	ORPHA:2432
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, C...	ORPHA:2314
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Retinal dysplasia, Aplastic anemia, Increased mean corpuscular volum...	OMIM:617052
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Increased circulating cortisol level, Inc...	ORPHA:139507
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Hypospadias, Giant platelets, Conductive hearing impairment, Renal insufficiency, C...	OMIM:611209
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal neovascularization, Loss of eyelashes, Chemosis, Conj...	ORPHA:163934
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Epicanthus, Upslanted palpebral fissure	ORPHA:3409
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Splenomegaly, Cryoglobulinemia...	ORPHA:91138
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ...	ORPHA:1830
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Hypo...	ORPHA:83471
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, Epicanthus, B lympho...	OMIM:614069
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Castleman Disease	Mediastinal lymphadenopathy, Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficienc...	ORPHA:160
Ifap Syndrome 2	Angular cheilitis, Posterior blepharitis, Keratitis, Keratoconjunctivitis sicca	OMIM:619016
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S...	ORPHA:848
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Psoriasiform dermatitis, Interface hepatitis, Autoimmune hemolytic ane...	OMIM:243150
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy...	ORPHA:183675
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Hypotension, Fetal ascites, Hepatitis, Cardiomyopathy, Cholesta...	ORPHA:292
Takenouchi-Kosaki Syndrome	Low-set ears, Optic atrophy, Hypospadias, Unilateral renal agenesis, Sensorineural hearing impair...	OMIM:616737
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci...	ORPHA:2688
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splenomegaly, Portal hyp...	OMIM:613385
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoies...	ORPHA:231222
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circ...	OMIM:617099
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Tachycar...	ORPHA:99827
Clouston Syndrome	Conjunctivitis, Sparse eyebrow, Blepharitis, Sparse eyelashes	OMIM:129500
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat...	OMIM:206100
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E...	OMIM:619381
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Interictal EEG abnormality, Sideroblastic anemia, Pappenhe...	OMIM:301310
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Decr...	ORPHA:33355
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia	OMIM:620137
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations	OMIM:619290
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Spleno...	ORPHA:905
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Congestive heart failure, Hypertrophic cardiomyopathy, Splenome...	ORPHA:2348
Cockayne Syndrome Type 1	Optic atrophy, Cataract, Pigmentary retinopathy, Hearing impairment, Renal insufficiency, Abnorma...	ORPHA:90321
Propionic Acidemia	Eczematoid dermatitis, Cardiomyopathy, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hyperg...	OMIM:606054
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat...	OMIM:617780
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, F...	OMIM:615085
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati...	OMIM:194380
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	ORPHA:99826
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Skin rash, Hypertriglyceridemia	OMIM:619175
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat...	ORPHA:470
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating aspartate aminotransferase concentration, Interface hepatitis, Elevated circ...	OMIM:611182
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Systemic Capillary Leak Syndrome	Hypotension, Leukocytosis, Arrhythmia, Pancreatitis, Myocarditis, Pericarditis	ORPHA:188
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr...	OMIM:258900
Microscopic Polyangiitis	Vasculitis, Uveitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Episclerit...	ORPHA:727
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Periodontitis, Abnormal eyebrow morphology, Splenom...	ORPHA:1775
Kid Syndrome	Sparse eyebrow, Folliculitis, Posterior blepharitis, Acne inversa, Keratitis, Aplastic/hypoplasti...	ORPHA:477
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas...	ORPHA:90003
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
17Q23.1Q23.2 Microdeletion Syndrome	Highly arched eyebrow, Long eyelashes, Epicanthus, Pulmonary arterial hypertension, Chronic otiti...	ORPHA:261279
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot...	OMIM:600501
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con...	OMIM:618892
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:39812
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:235400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Vasculitis, Folliculitis...	ORPHA:228123
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Tricuspid stenosis, Persistence of hemoglobi...	OMIM:105650
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Skin rash...	ORPHA:319251
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hypertension, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A...	ORPHA:79124
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Epicanthus, Decreased cir...	OMIM:616910
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ...	ORPHA:275
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr...	OMIM:618752
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating...	OMIM:613313
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs...	OMIM:619374
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt...	OMIM:618278
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Elevat...	ORPHA:36234
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Neonatal death	OMIM:300076
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Cerebellar hemorrhage,...	OMIM:251000
Glut1 Deficiency Syndrome 2	Splenomegaly, Reticulocytosis, Reduced haptoglobin level, EEG abnormality, Hemolytic anemia	OMIM:612126
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating lactate dehydrogenase co...	OMIM:614034
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Yellow Fever	Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concent...	ORPHA:99829
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,...	OMIM:242860
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re...	ORPHA:676
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Cirrhosis, Increased circulating antibody level	OMIM:178500
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Pustule, Abnormal eyelid morphology, Conjunctivitis, Cheilitis, Blep...	ORPHA:37
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hypohidrosis, Sparse lateral eyebrow, Hepatitis	ORPHA:363523
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Hyperuric...	ORPHA:79083
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Skin rash, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein ...	ORPHA:85414
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustule, Myoca...	ORPHA:31205
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Cach Syndrome	Optic neuritis, Hepatosplenomegaly, Pancreatitis, Nonketotic hyperglycinemia	ORPHA:135
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenomegaly, Hyperlipopro...	OMIM:615947
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Oral leukoplakia...	OMIM:127550
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Hematemesi...	ORPHA:274
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Hepatomegaly, Erythr...	ORPHA:3162
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Cataract, Sensorineural hearing impairment, Hematuria, Bilateral cleft palate, Pos...	ORPHA:1473
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri...	ORPHA:563
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, ...	ORPHA:231214
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Aicardi-Goutieres Syndrome 7	Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepatomegaly, ...	OMIM:615846
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S...	ORPHA:47612
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Increased circulating IgG level, Int...	ORPHA:284227
Gombo Syndrome	Abnormal heart morphology, Microphthalmia	OMIM:233270
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I...	OMIM:620376
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Abnormal renal physiology, Colon cancer, Inc...	ORPHA:158057
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Sensorineural hearing impairment, Hepatomegaly, Jaundi...	OMIM:230350
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul...	OMIM:616050
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Cutaneous abs...	ORPHA:101330
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Increased urinary porphobilinog...	ORPHA:79277
Juvenile Xanthogranuloma	Hyphema, Iritis, Myeloproliferative disorder, Blepharitis, Uveitis	ORPHA:158000
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:214950
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Gastroesophageal reflux, Abnormal circulating creatine kinase concentration, Sensorineural hearin...	OMIM:617519
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Sensorineural hearing impairment	OMIM:609129
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Zika Virus Disease	Myelitis, Skin rash, Infectious encephalitis, Arthritis, Thrombocytopenia, Conjunctivitis, Maculo...	ORPHA:448237
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia, Downslanted palpeb...	ORPHA:2643
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur...	OMIM:620010
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H...	ORPHA:391487
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume, Bilateral sensorineura...	OMIM:616943
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Hyperlipidemia, Splenomegaly...	OMIM:214900
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Unilateral renal agenesis, Total anomalous pulmonary venous return, Hearing impair...	ORPHA:487796
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon...	ORPHA:447
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Increased...	OMIM:260920
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:300861
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Downslanted palpebral fissures, Microcytic anemia, Hepatosplenomegaly, Mitra...	OMIM:619750
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary...	OMIM:269200
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport...	ORPHA:64743
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Cardiomyopathy, Abnormal circulating enzyme concentration o...	ORPHA:565612
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Ascit...	OMIM:619487
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Splenomegaly, Leuk...	OMIM:618042
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Increased circulating antibody level, Pustule, Hypothyroidism, Hyperthyroidism	ORPHA:48377
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Elevated circulating creatinine concentration, ...	OMIM:614817
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Galactose Epimerase Deficiency	Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ...	OMIM:601495
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated...	ORPHA:400
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggr...	OMIM:124900
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hepatosp...	ORPHA:353298
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract, Ventricular septal defect, Microphthalmia, Hepatomegaly, Optic disc pallor, Ectopic kid...	OMIM:613730
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous...	OMIM:612782
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hearing impairment, Hematuria, Microphthalmia, Iris coloboma, Cleft palate	OMIM:120433
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased response ...	OMIM:615577
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom...	ORPHA:251004
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Skin rash,...	ORPHA:98848
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorrhage, Peri...	ORPHA:73263
Igg4-Related Thyroid Disease	Graves disease, Increased circulating IgG4 level, Hypocalcemia, Sclerosing cholangitis, Hashimoto...	ORPHA:64744
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Abnormal circulating carnitine concentration, Aspi...	ORPHA:431361
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hyperte...	ORPHA:228426
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Inc...	OMIM:256040
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Increased circulating lactate dehydrogenase concentration, Microangiopathic hemolytic anemia, Ele...	ORPHA:90038
Down Syndrome	Polycythemia, Upslanted palpebral fissure, Acute megakaryocytic leukemia, Abnormality of the lymp...	ORPHA:870
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon...	ORPHA:499009
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att...	ORPHA:464343
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Pneumonia, Hypertensive crisis, Septic arthritis, B...	ORPHA:544482
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Trichinellosis	Increased circulating IgE level, Skin rash, Conjunctival hyperemia, Retinal hemorrhage, Conjuncti...	ORPHA:863
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, High palate, Microcornea, Microphthalmia	ORPHA:2528
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ankyloblepharon, Lacrimal duct atresia, Sparse eyelashes, Absent eyelashes, Anhidrosis, Conjuncti...	OMIM:106260
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microcornea, Cataract, Macular atrophy, Microphthalmia, Optic disc pallor	OMIM:616171
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Hypouricemia, Decreased lymphocyte proliferation in response to mitogen, Impaired T ce...	OMIM:613179
Familial Mediterranean Fever	Vasculitis, Erysipelas, Acute hepatic failure, Ascites, Leukocytosis, Skin rash, Splenomegaly, Or...	ORPHA:342
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Erythroid hyperplasia, Abnormal circulating enzyme concentration or acti...	ORPHA:95159
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati...	OMIM:615952
Scrub Typhus	Hypotension, Splenomegaly, Skin rash, Infectious encephalitis, Hyperhidrosis, Lymphadenopathy, My...	ORPHA:83317
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Congenital Isolated Acth Deficiency	Hypotension, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatremia, Decrea...	ORPHA:199296
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Hemochromatosis, Type 4	Cataract, Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Hepato...	OMIM:606069
Maple Syrup Urine Disease, Type Ia	Elevated circulating L-alloisoleucine concentration, Pancreatitis, Reduced branched-chain alpha-k...	OMIM:248600
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Hearing impairment, Cardiomyopathy, 3-Methylglutaconic aciduria,...	ORPHA:67048
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level, Bronchiectasis	OMIM:615872
Acquired Generalized Lipodystrophy	Abnormality of complement system, Abnormal circulating lipid concentration, Cardiomyopathy, Abnor...	ORPHA:79086
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Neonatal Inflammatory Skin And Bowel Disease	Blepharitis, Horizontal eyebrow, Chapped lip, Psoriasiform dermatitis, Pustule, Left ventricular ...	ORPHA:294023
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Epistaxis, Increased circulating interleuk...	OMIM:620514
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Peritonitis, Increased ci...	ORPHA:343
Eec Syndrome	Sparse eyebrow, Keratitis, Xerostomia, Decreased response to growth hormone stimulation test, Ant...	ORPHA:1896
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:435651
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly...	OMIM:619164
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Behçet Disease	Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage...	ORPHA:117
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Congenital Fibrinogen Deficiency	Volvulus, Left ventricular hypertrophy, Splenic rupture, Developmental cataract, Microphthalmia, ...	ORPHA:335
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Stromme Syndrome	Accessory spleen, Low-set ears, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia...	OMIM:243605
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level	ORPHA:1296
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Primary adrenal insufficiency, Myositis, Hashimoto thyroiditis, ...	ORPHA:589
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Conjunctival i...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Conjunctival i...	ORPHA:529808
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis, Hypercalcemia	OMIM:145001
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo...	ORPHA:169105
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Ascites, L...	ORPHA:90362
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephalitis, Hepat...	ORPHA:3386
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pterygium, Pancytopenia, Leukopenia, Sparse eyelashes, Acute myeloid...	OMIM:305000
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho...	OMIM:121300
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Leukonychia Totalis	Abnormal eyelash morphology, Blepharitis	ORPHA:2387
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Pelvic mass, Ascites, Elevated carcino...	ORPHA:370348
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly...	ORPHA:93476
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia...	OMIM:152700
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hyperornithinemia, Hyperammonemia, Hepatomegaly, Acute hepatitis	OMIM:238970
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hepatic steatosis, Reduced cystathionine beta-synthase activity in cultured f...	OMIM:236200
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Increased circulating IgA level, Lym...	ORPHA:29073
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Hepatitis, Congestive heart failure, Cervical lymphadenopathy, Leuko...	ORPHA:2331
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Cirrhosis, Gastric varix, He...	OMIM:613490
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Recurrent pneumonia, Nephritis, Congestive heart fa...	OMIM:617303
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Xerostomia, Leukopenia, Skin rash, Sple...	ORPHA:809
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Orthostatic hypot...	ORPHA:230
Microphthalmia, Isolated 5	Cataract, Optic disc drusen, Bone spicule pigmentation of the retina, Retinal pigment epithelial ...	OMIM:611040
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Familial Chylomicronemia Syndrome	Pulmonary embolism, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip...	ORPHA:444490
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cardiomyopathy, Elevated circulating creatine kinase concentration, Developmental cataract, Micro...	OMIM:613155
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Thrombocytopenia, Microphthalmia, Cle...	OMIM:619981
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Increased ci...	ORPHA:723
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia	ORPHA:1574
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral...	ORPHA:49041
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Increased circulating IgG4 level, Abnormality of the extrao...	ORPHA:79078
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatosplenomegaly, Hypersplenism, Increased LDL cholesterol concentra...	OMIM:278000
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Dilated card...	ORPHA:3243
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Hi...	OMIM:269920
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Low-set, posteriorly rotated ears, Microphthalmia, Cleft p...	ORPHA:1617
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
C3 Glomerulopathy	Paraproteinemia, Elevated circulating creatinine concentration, Decreased circulating complement ...	ORPHA:329918
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elev...	ORPHA:521219
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hepatitis, Increased circulating prolactin concentration, Increased ...	ORPHA:562
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulating T4 concent...	OMIM:610199
Cronkhite-Canada Syndrome	Cataract, Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Sple...	ORPHA:2930
Galactosemia I	Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Cataract, Reduced ...	OMIM:230400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,...	ORPHA:79259
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Whipple Disease	Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Infectious encephalitis, Myositis, Hypona...	ORPHA:3452
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Cofs Syndrome	Optic atrophy, Cataract, Abnormality of retinal pigmentation, Sensorineural hearing impairment, M...	ORPHA:1466
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Cataract, Optic atrophy, Microcytic anemia, Microphthalmia, Dysphagia	OMIM:612379
Matthew-Wood Syndrome	Low-set ears, Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Vesicouret...	ORPHA:2470
Cat-Eye Syndrome	Hearing impairment, Hydronephrosis, Microphthalmia, Anal atresia, Iris coloboma	ORPHA:195
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Gout, Hyper...	OMIM:232200
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level, Colitis	OMIM:615190
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy, Arthritis	OMIM:617772
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Insulin-Resistance Syndrome Type B	Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Hypotriglyceridemi...	ORPHA:2298
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Lymphopenia, Abno...	ORPHA:1572
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Otitis media, Skin rash, I...	ORPHA:900
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypothyroidism, Iridocyclitis, Pancreatitis	ORPHA:412057
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Sensorineural hearing impairment, Hyperprolinemi...	OMIM:619046
Lassa Fever	Shock, Conjunctivitis, Jaundice, Increased circulating IgM level	ORPHA:99824
Wolfram Syndrome 1	Optic atrophy, Cataract, Pigmentary retinopathy, Hydroureter, Hearing impairment, Cardiomyopathy,...	OMIM:222300
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Xanthelasma, Go...	ORPHA:412
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Splenomegaly, Pyloric stenosis	ORPHA:664
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis	OMIM:614602
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice, Esop...	ORPHA:75234
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Xeroderma Pigmentosum	Ankyloblepharon, Keratitis, Pterygium, Conjunctival telangiectasia, Telangiectasia, Entropion, Te...	ORPHA:910
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Upslanted palpebral fissure, Right ventricular hypertrophy, Epicanthus, Synophrys, Pulmonary arte...	ORPHA:280633
Trichothiodystrophy 3, Photosensitive	Low-set ears, Cataract, Meckel diverticulum, Hearing impairment, Lymphopenia, Abdominal adhesions...	OMIM:616395
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Optic disc ...	OMIM:611490
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Cleft palate, Microphthalmia	OMIM:616570
Adult-Onset Nemaline Myopathy	Paraproteinemia, Dilated cardiomyopathy, Mildly elevated creatine kinase	ORPHA:171442
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Adrenal insufficiency, Pri...	OMIM:240300
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:36426
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ...	OMIM:615607
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Microphthalmia	OMIM:251700
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, El...	ORPHA:85435
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyeliti...	ORPHA:319552
Cat Eye Syndrome	Low-set ears, Hearing impairment, Ventricular septal defect, Atrial septal defect, Rectal atresia...	OMIM:115470
Atelis Syndrome 1	Cataract, Leukopenia, Glue ear, Ventricular septal defect, Atrial septal defect, Thrombocytopenia...	OMIM:620184
Lichen Planopilaris	Pterygium, Hepatitis	ORPHA:525
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Ascite...	ORPHA:2198
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Leu...	ORPHA:20
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Intestinal malrotation, Anophthalmia, Ventricular septal defect, Microph...	OMIM:615524
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Vent...	ORPHA:280365
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Increased circulating ferritin concentration, Absent brainstem auditory responses, Thrombocytopen...	ORPHA:3240
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of...	OMIM:616622
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome...	OMIM:615688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Retin...	OMIM:613153
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Limb-Mammary Syndrome	Sparse eyebrow, Lacrimal duct atresia, Psoriasiform dermatitis, Absent lacrimal punctum, Chronic ...	ORPHA:69085
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten...	ORPHA:2978
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Microphallus, Leuko...	OMIM:603467
Tick-Borne Encephalitis	Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal circulati...	ORPHA:297
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Cataract, Hearing impairment, En...	OMIM:301108
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Shallow orbits, Hypochrom...	ORPHA:440713
Neuraminidase Deficiency	Cataract, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased ur...	OMIM:256550
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Conjun...	OMIM:120100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch...	ORPHA:247598
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Anemia, Anal atresia, Pelvic kidney	OMIM:617244
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Elevated circulating creatinine concentration, Recurrent corneal erosion...	OMIM:223900
Shigellosis	Pneumonia, Hypovolemic shock, Hepatic failure, Microangiopathic hemolytic anemia, Ulcerative coli...	ORPHA:810
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Increased circulating ferritin co...	ORPHA:355
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level	OMIM:610475
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Refsum Disease	Cataract, Cardiomyopathy, Renal insufficiency, Splenomegaly, Abnormality of retinal pigmentation,...	ORPHA:773
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Hypoproteinemia	ORPHA:1116
Moebius Syndrome	Epicanthus, Ptosis, Blepharitis	ORPHA:570
Nanophthalmos	Abnormality of retinal pigmentation, Microphthalmia	ORPHA:35612
Cinca Syndrome	Abnormality of thrombocytes, Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, S...	ORPHA:1451
Gracile Bone Dysplasia	Ascites, Ankyloglossia, Aniridia, Hypocalcemia, Microphthalmia, Micropenis, Asplenia, Hypoplastic...	OMIM:602361
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Aicardi-Goutieres Syndrome 4	Low-set ears, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti...	ORPHA:108
Seckel Syndrome 10	Elevated circulating luteinizing hormone level, Congestive heart failure, Elevated circulating as...	OMIM:617253
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:537
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Decreased circulating IgG1 level...	ORPHA:90363
Bresek Syndrome	Low-set ears, Renal hypoplasia, Hearing impairment, Vesicoureteral reflux, Protruding ear, Agangl...	ORPHA:85284
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Low-set ears, Unilateral renal agenesis, Gastroesophageal reflux, Renal hypo...	OMIM:618494
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Recurrent sk...	OMIM:233600
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Steatorrhea	ORPHA:75233
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Recurrent otitis media, Exocrine pancreatic insufficien...	OMIM:618268
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Bu...	ORPHA:284
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Episcleritis, Chondriti...	ORPHA:728
Dermotrichic Syndrome	Aminoaciduria, Aganglionic megacolon, EEG abnormality, Anemia, Macrotia	ORPHA:99688
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Immune-Mediated Necrotizing Myopathy	Congestive heart failure, Palpitations, Skin rash, Elevated circulating creatine kinase concentra...	ORPHA:206569
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Epicanthus, Hepatomegaly, Decreased circulatin...	OMIM:605309
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia	OMIM:274270
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Horseshoe kidney, V...	OMIM:609053
Spondyloenchondrodysplasia	Pneumonia, Vasculitis, Granuloma, Hepatitis, Decreased response to growth hormone stimulation tes...	ORPHA:1855
Antisynthetase Syndrome	Aortic regurgitation, Xerostomia, Skin rash, Elevated circulating creatine kinase concentration, ...	ORPHA:81
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypotension, Graves disease, Hepatitis, Adrenocorticotropin deficient adrenal ...	ORPHA:199299
Adams-Oliver Syndrome	Cataract, Gastrointestinal hemorrhage, Ascites, Tetralogy of Fallot, Leukopenia, Portal hypertens...	ORPHA:974
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Mogs-Cdg	Optic atrophy, Hepatosplenomegaly, Sensorineural hearing impairment, Cardiomegaly, Left ventricul...	ORPHA:79330
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,...	OMIM:617321
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Abnormality of retinal pigmentation, Retinal detachment, Microphthalmia, Optic disc pallor	OMIM:251270
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia, Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Persistence of hemoglobin F, Astigmatism, Ventricular septal defect, Hia...	OMIM:619769
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Elevated circulating creatine kinase concentration, Retinal detachment, Microphthalmia,...	OMIM:615181
Lissencephaly 8	Microphthalmia, Optic atrophy, Cataract, Elevated circulating creatine kinase concentration	OMIM:617255
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Trisomy 13	High, narrow palate, Low-set ears, Abnormal helix morphology, Optic atrophy, Cataract, Abnormalit...	ORPHA:3378
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Leukocytosis, Conjunctival hyperemia, Elevated circulating C-react...	OMIM:191900
Leptospirosis	Hypotension, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Retinal hemorrhage, Ski...	ORPHA:509
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy, Microphthalmia, Shallow ante...	OMIM:267760
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Thin eyebrow, Episcleritis, Scleritis, Abnormal nasolacrimal sy...	ORPHA:2273
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Hearing impairment, Ocular anterior segment dysgenesis, Microphthalmia, Iris colo...	OMIM:610023
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Pancreatitis	OMIM:145980
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Atriov...	ORPHA:398124
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myos...	ORPHA:32960
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocutaneous candidiasis,...	OMIM:147060
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopa...	ORPHA:79477
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Ventricular septal defect,...	OMIM:616589
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascites, ...	OMIM:226300
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Elevated circulating hepatic ...	OMIM:212065
Simpson-Golabi-Behmel Syndrome	Polysplenia, Downslanted palpebral fissures, Increased circulating IgE level, Bundle branch block...	ORPHA:373
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp...	OMIM:610717
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Exudative retinal detachment, Microphthalmia	ORPHA:209956
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ski...	ORPHA:183
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Acne inversa, Panniculitis, Anemia, Elevated circulating C-reactive prote...	OMIM:608068
Galactokinase Deficiency	Cataract, Nuclear cataract, Hepatosplenomegaly, Sensorineural hearing impairment, Hypercholestero...	ORPHA:79237
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Retinal degenera...	OMIM:619260
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:319213
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno...	ORPHA:79301
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure	ORPHA:2724
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Warburg Micro Syndrome 1	Low-set ears, Optic atrophy, Microcornea, Developmental cataract, Microphthalmia, Macrotia	OMIM:600118
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Malignant Atrophic Papulosis	Constrictive pericarditis, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology	OMIM:602248
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Astigmatism, Optic disc pallor, High palate, Abnormality of ...	OMIM:617523
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Meckel Syndrome, Type 8	Low-set ears, Anophthalmia, Microphthalmia, Pericardial effusion, Polycystic kidney dysplasia, En...	OMIM:613885
Walker-Warburg Syndrome	Low-set ears, Bifid uvula, Optic atrophy, Iris coloboma, Cataract, Microcornea, Retinal dysplasia...	ORPHA:899
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Tangier Disease	Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevated circulating apol...	OMIM:205400
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S...	OMIM:612714
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infec...	OMIM:603165
Oculofaciocardiodental Syndrome	Cataract, Microcornea, Ectopia lentis, Hearing impairment, Intestinal malrotation, Submucous clef...	ORPHA:2712
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Large earlobe, Microphthalmia, Ventricular septal defect	OMIM:602501
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Hepatic failure, Elev...	ORPHA:567983
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Dermatochalasis, Decreased lymphocyte proliferation in response to mitogen, Reduced natural kille...	ORPHA:221139
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia, Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Sensorineural hearing impairment, Hematuria...	OMIM:120330
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Multicystic kidney dysplasia, Intestinal malrotation, Abno...	ORPHA:2538
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Lymphadenitis, Dilated cardi...	OMIM:615895
Orthostatic Hypotension 1	Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen, Nocturia, Elevated circul...	OMIM:223360
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly, Hearing impairment	OMIM:614885
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int...	ORPHA:210122
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Decreased circulating antibody level, Aplasia/Hypoplasia of the eyebrow	ORPHA:1006
Tumoral Calcinosis, Normophosphatemic, Familial	Abnormal blood phosphate concentration, Conjunctivitis, Abnormal circulating calcium concentration	OMIM:610455
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Elevated circulating C-reacti...	ORPHA:50918
Pierpont Syndrome	Microcornea, Hearing impairment, Large fleshy ears, Microphthalmia, Micropenis, Posteriorly rotat...	OMIM:602342
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulom...	ORPHA:533
Neurooculocardiogenitourinary Syndrome	Low-set ears, Peters anomaly, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Sens...	OMIM:618652
Adams-Oliver Syndrome 4	Microphthalmia, Atrial septal defect, Ventricular septal defect	OMIM:615297
Hereditary Folate Malabsorption	Pancytopenia, Decreased circulating antibody level, Eosinophilia, Megaloblastic anemia, Thrombocy...	ORPHA:90045
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma...	OMIM:603585
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst	OMIM:167800
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Pierpont Syndrome	Microcornea, Hearing impairment, Uplifted earlobe, Microphthalmia, Posteriorly rotated ears, Macr...	ORPHA:487825
Atelis Syndrome 2	Low-set ears, Gastroesophageal reflux, Microphthalmia, Protruding ear, Thrombocytopenia, Developm...	OMIM:620185
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Hypospadias, Gastroesophageal reflux, Iris coloboma, Hearing impairment, Peters an...	ORPHA:494344
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm...	ORPHA:100026
Fanconi Anemia, Complementation Group E	Hearing impairment, Horseshoe kidney, Abnormal heart morphology, Pancytopenia, Microphthalmia, An...	OMIM:600901
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Cataract, Abnormality iris morphology, Cardiomyopathy, Megalocornea, Elevated circ...	ORPHA:370959
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Mucopolysaccharidosis Type 7	Ascites, Splenomegaly, Hepatitis	ORPHA:584
Pseudo-Torch Syndrome 1	Low-set ears, Cataract, Renal insufficiency, Splenomegaly, Patent foramen ovale, Thrombocytopenia...	OMIM:251290
Xk Aprosencephaly Syndrome	Microphthalmia, Anal atresia, Atrial septal defect, Ventricular septal defect	ORPHA:3469
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Congestive heart f...	ORPHA:505248
Familial Mediterranean Fever	Neutrophilia, Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Hepatomegaly, Pe...	OMIM:249100
Alpha-Mannosidosis, Adult Form	Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Optic ...	ORPHA:309288
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Abnormality of peripheral nerve conduction, Microphthalmia	ORPHA:48431
Scorpion Envenomation	Cardiogenic shock, Increased circulating lactate dehydrogenase concentration, Prominent U wave, C...	ORPHA:466677
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Conjugated hyperbilirub...	OMIM:601847
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Congenital Disorder Of Glycosylation, Type Il	Low-set ears, Hypoalbuminemia, Ascites, Hypocholesterolemia, Pericardial effusion, Villous atroph...	OMIM:608776
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto...	OMIM:611881
Congenital Disorder Of Glycosylation, Type Iib	Short palpebral fissure, Elevated circulating aspartate aminotransferase concentration, Long eyel...	OMIM:606056
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparathyroidism	OMIM:600740
Hypocomplementemic Urticarial Vasculitis	Ascites, Reduced circulating complement concentration, Episcleritis, Skin rash, Splenomegaly, Hep...	ORPHA:36412
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Cataract, Hypom...	OMIM:175500
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Polyarteritis Nodosa	Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive protein concentration, Hypert...	ORPHA:767
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Hepatic sinusoidal dilatation, Tricuspid regurgitation, Long eyelashes, Te...	OMIM:620371
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Glycogen Storage Disease Ic	Inflammation of the large intestine, Spider hemangioma, Cyclic neutropenia, Xanthelasma, Gout, Ch...	OMIM:232240
Microphthalmia, Syndromic 13	Iris coloboma, Anteverted ears, Microcornea, Microphthalmia	OMIM:300915
Microphthalmia/Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary aminoisobutyric acid,...	OMIM:614105
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombo...	ORPHA:85212
Mosaic Trisomy 9	Low-set ears, Intestinal malrotation, Horseshoe kidney, Abnormal heart valve morphology, Endocard...	ORPHA:99776
Fanconi Anemia, Complementation Group A	Hearing impairment, Horseshoe kidney, Abnormal heart morphology, Pancytopenia, Microphthalmia, An...	OMIM:227650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyebrow, Xerostomia, Decreased response to growth hormone stimulation test, Sparse eyelash...	OMIM:604292
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physi...	ORPHA:99867
Muckle-Wells Syndrome	Vasculitis, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Hepatomegaly, A...	ORPHA:575
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash...	OMIM:142680
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granules, Thrombo...	OMIM:187900
Kapur-Toriello Syndrome	Low-set ears, Iris coloboma, Atresia of the external auditory canal, Retinal coloboma, Intestinal...	ORPHA:2328
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hearing impairment, Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, Decreased ner...	OMIM:609136
Aapoaiv Amyloidosis	Atrial flutter, Paraproteinemia, Elevated circulating creatinine concentration, Hypertrophic card...	ORPHA:439232
Developmental And Epileptic Encephalopathy 1	EEG with burst suppression, Hypsarrhythmia, Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyebrow, Xerostomia, Decreased response to growth hormone stimulation test, Telecanthus, S...	OMIM:129900
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia, Micropenis	OMIM:620501
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Conjunctival icterus, Hepatic fibrosis, Biliary cirrhos...	ORPHA:53035
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotensi...	ORPHA:85443
Fanconi Anemia, Complementation Group D2	Low-set ears, Bone marrow hypocellularity, Annular pancreas, Hearing impairment, Horseshoe kidney...	OMIM:227646
Transaldolase Deficiency	Low-set ears, Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenom...	OMIM:606003
Pauci-Immune Glomerulonephritis	Arteritis, Elevated circulating creatinine concentration, Pulmonary hemorrhage, Scleritis, Pancre...	ORPHA:93126
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Microcytic anemia, Low-set, posteriorly rotat...	ORPHA:98791
Cockayne Syndrome Type 3	Lentiglobus, Microphthalmia, Hepatomegaly, Optic disc pallor, Corneal ulceration, Macrotia, Catar...	ORPHA:90324
Spondylo-Ocular Syndrome	Low-set ears, Cataract, Iris hypopigmentation, Abnormal antihelix morphology, Ventricular septal ...	ORPHA:85194
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Splenomegaly, Renal tubular acido...	ORPHA:264580
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Rheumatic Fever	Epistaxis, Arrhythmia, Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis	ORPHA:3099
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Increased circulating antibody level	OMIM:114065
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Arthritis	OMIM:208250
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	ORPHA:67
Kapur-Toriello Syndrome	Low-set ears, Cataract, Conductive hearing impairment, Retinal coloboma, Intestinal malrotation, ...	OMIM:244300
Colchicine Poisoning	Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis, Hypocalce...	ORPHA:31824
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Duodenal stenosis, Microphthalmia, Hypoplasia of penis, Microtia	ORPHA:2547
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptoglobin level, ...	OMIM:300842
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Persistence of hemoglobin F, Exocrine pancreatic insuffici...	OMIM:260400
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Hearing impairment, Anophthalmia, Ventricular septal defect, Tracheoesophageal fis...	ORPHA:77298
Tyrosinemia, Type I	Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Hypertrophic...	OMIM:276700
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Normocytic anemia, Nongranulomatous uveitis, Panuveitis, Elevated circulating ...	ORPHA:91500
Chediak-Higashi Syndrome	Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Decreased nerve conduction velocity, Le...	OMIM:214500
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Microphthalmia, Hypocalcemia, Papilledema, Developmental cataract, Transient h...	OMIM:127000
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Cataract, Abnormal helix morphology, Elevated circulating long chain fatty acid co...	OMIM:214110
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Astigmatism, Protruding ear, Retinal de...	OMIM:152950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Protein-losing enteropathy, Abnormally large globe, Ascites, Pancreatic lymphangiec...	ORPHA:1655
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hearing impairment, Splenomegaly, Hypocalcemia, Mucopolysacchariduria...	OMIM:618440
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra...	ORPHA:91495
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Fish-Eye Disease	Splenomegaly, Corneal opacity, Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:79292
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Ring Chromosome 10 Syndrome	Low-set ears, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Aganglionic megacolon, ...	ORPHA:1438
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo...	OMIM:601596
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Cockayne Syndrome B	Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Pigmentary retinopathy, Hypoplas...	OMIM:133540
Mohr-Tranebjaerg Syndrome	Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p...	ORPHA:52368
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop...	OMIM:615387
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Cataract, Nuclear cataract, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatome...	OMIM:608885
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Juvenile Sialidosis Type 2	Low-set ears, Optic atrophy, Cataract, Visceromegaly, Hearing impairment, Abnormal heart morpholo...	ORPHA:93399
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect, Microphthalmia, Optic disc pa...	OMIM:300887
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon...	ORPHA:1215
Bloom Syndrome	Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Decreased circulati...	ORPHA:125
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis ...	OMIM:211600
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Hearing impairment, Horseshoe kidney, Pancytopenia, Microphthalmia, ...	OMIM:227645
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Microphthalmia, Hepatomegaly, High palate	OMIM:619053
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Astigmatism, Macrotia, Microphthalmia	OMIM:619694
Pearson Syndrome	Hearing impairment, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly,...	ORPHA:699
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Multiple Sulfatase Deficiency	Optic atrophy, Cataract, Abnormality of peripheral nerve conduction, Splenomegaly, Sensorineural ...	ORPHA:585
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Facial paralysis, Hearing impairment, Pancytopenia, Splenomegaly, Hypocalcemia, He...	OMIM:259700
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Dilated cardiomyopathy, Chronic mucocutaneous ...	OMIM:242840
Frontonasal Dysplasia 1	Low-set ears, Cataract, Conductive hearing impairment, Tetralogy of Fallot, Median cleft palate, ...	OMIM:136760
Chronic Mucocutaneous Candidiasis	Skin rash, Cheilitis, Hepatitis	ORPHA:1334
Mednik Syndrome	Hepatic fibrosis, Microcolon, Cataract, Volvulus, Cholestasis, Sensorineural hearing impairment, ...	OMIM:609313
Meckel Syndrome	Multicystic kidney dysplasia, Anophthalmia, Congenital hepatic fibrosis, Microphthalmia, Cataract...	ORPHA:564
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Primary adre...	ORPHA:2905
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	ORPHA:420741
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Sandestig-Stefanova Syndrome	Low-set ears, Muscular ventricular septal defect, Underdeveloped tragus, Perimembranous ventricul...	OMIM:618804
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Elevated circulating creatine kinase concentration, Sensorineur...	OMIM:615249
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Low-set ears, Cataract, Microphthalmia, Ventricular septal defect	ORPHA:93267
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Low-set ears, Severe B lymphocytopenia, Renal hypoplasia, Hepatic fibrosis, Cat...	OMIM:620005
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hearing impairment, Lymphopenia, Hepatosplenomegaly, Sensorineural hearing impairment, Neutropeni...	OMIM:612541
Fanconi Anemia, Complementation Group S	Anemia, Narrow palate, Microphthalmia	OMIM:617883
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Simple ear, Bicuspid aorti...	OMIM:619318
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Protein-losing enteropathy, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hyp...	OMIM:235255
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Micro Syndrome	Optic atrophy, Cataract, Microcornea, Macrotia, Low-set, posteriorly rotated ears, Retinal colobo...	ORPHA:2510
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Gastroesophageal reflux, Volvulus, Abnormal hemoglobin, Sensorineural hearing impa...	ORPHA:847
Linear Skin Defects With Multiple Congenital Anomalies 1	Iris coloboma, Cataract, Pigmentary retinopathy, Peters anomaly, Hearing impairment, Anteriorly p...	OMIM:309801
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hypoplasia o...	OMIM:604229
Fanconi Anemia, Complementation Group L	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Anotia, T...	OMIM:614083
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Senso...	OMIM:109120
Congenital Sialidosis Type 2	Low-set ears, Optic atrophy, Cataract, Hearing impairment, Ascites, Abnormal heart morphology, He...	ORPHA:93400
Duane-Radial Ray Syndrome	Cataract, Anal stenosis, Renal hypoplasia, Optic disc hypoplasia, Retinal coloboma, Horseshoe kid...	OMIM:607323
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla...	OMIM:602347
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Undetectable visual evoked potentials, Mydriasis, Extramedullary hematopoiesis, As...	OMIM:259720
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice	OMIM:235555
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Ventricular septal defect, Acute my...	OMIM:610832
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m...	ORPHA:99095
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Low-set, posteriorly rotated ears, Biliary tract abnorm...	ORPHA:3191
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
22Q11.2 Deletion Syndrome	Low-set ears, Hearing impairment, Ventricular septal defect, Posterior embryotoxon, Atrial septal...	ORPHA:567
Myotonic Dystrophy 2	Decreased circulating IgG level, Palpitations, Elevated circulating creatine kinase concentration...	OMIM:602668
Joubert Syndrome 37	Low-set ears, Hydronephrosis, Hepatomegaly, Microphthalmia, Micropenis, High palate, Posteriorly ...	OMIM:619185
Cockayne Syndrome A	Optic atrophy, Cataract, Abnormal auditory evoked potentials, Pigmentary retinopathy, Retinal pig...	OMIM:216400
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Hashimoto th...	ORPHA:436252
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ...	ORPHA:169090
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Dilated ...	OMIM:203800
Cerebrooculofacioskeletal Syndrome 2	Cataract, Hearing impairment, Developmental cataract, Microphthalmia, Micropenis	OMIM:610756
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Scedosporiosis	Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica...	ORPHA:449280
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function, Downslanted palpebral fissures	ORPHA:30
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholesterolemia	OMIM:619471
Triploidy	Iris coloboma, Cataract, Intestinal malrotation, Low-set, posteriorly rotated ears, Abnormality o...	ORPHA:3376
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia, Microphthalmia	OMIM:615771
Fryns Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Low-set, posterior...	ORPHA:2059
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Icf Syndrome	Lymphopenia, Epicanthus, Anemia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ...	OMIM:602562
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Jaundice, Cirrhosis, Pulmonary arterial hyper...	OMIM:215600
Joubert Syndrome 22	Renal hypoplasia, Retinal dysplasia, Microphthalmia	OMIM:615665
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili...	OMIM:301068
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia, Microphthalmia	OMIM:614830
Warburg Micro Syndrome 3	Optic atrophy, Cataract, Microcornea, Developmental cataract, Microphthalmia, Micropenis, Narrow ...	OMIM:614222
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Optic atrophy, Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Ab...	ORPHA:79324
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo...	ORPHA:86816
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Optic atrophy, Renal hypoplasia, Gastroesophageal reflux, Nephrocalcinosis, Catara...	OMIM:617913
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Whim Syndrome	Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop...	ORPHA:51636
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Ascites, Mitral regurgitation, Knee osteoarthritis, Pericarditis	ORPHA:2848
Norrie Disease	Optic atrophy, Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Sensorineur...	OMIM:310600
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, Sensorineura...	OMIM:616084
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Severe B lymphocytopenia, Adrenocorticotropin deficient adrenal insufficienc...	ORPHA:293978
Cornelia De Lange Syndrome	Highly arched eyebrow, Long eyelashes, Curly eyelashes, Thick eyebrow, Ptosis, Blepharitis, Synop...	ORPHA:199
Melas	Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card...	ORPHA:550
Nance-Horan Syndrome	Cataract, Microcornea, Protruding ear, Retinal detachment, Microphthalmia	ORPHA:627
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Splen...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatic ste...	OMIM:269700
Fraser Syndrome 2	Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Atresia of the external auditory canal...	OMIM:617666
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ...	ORPHA:94059
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Anophthalmia, Sensorineural hearing impairment, Microphthalmia, Sclerocorn...	ORPHA:139471
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated...	ORPHA:93672
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio...	OMIM:269400
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Hypertriglyceridemia, Hypertension, Hypercholesterolemia, Decreased HDL choles...	OMIM:151660
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Esophageal stricture, Corneal scarring, Abnormal esophagus morphology, Anemia, Conjunct...	OMIM:226600
3Q29 Microduplication Syndrome	Low-set ears, Cataract, Hearing impairment, Aniridia, Ventricular septal defect, Ectopic anus, Mi...	ORPHA:251038
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Jacobsen Syndrome	Low-set ears, Optic atrophy, Iris coloboma, Microcornea, Annular pancreas, Ventricular septal def...	OMIM:147791
8P11.2 Deletion Syndrome	Iris coloboma, Hypoplasia of penis, Microcornea, Splenomegaly, Mitral valve prolapse, Spherocytos...	ORPHA:251066
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Basel-Vanagaite-Smirin-Yosef Syndrome	Low-set ears, Cataract, Microcornea, Gastroesophageal reflux, Furrowed tongue, Ventricular septal...	OMIM:616449
Mucopolysaccharidosis, Type Iiib	Hearing impairment, Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly,...	OMIM:252920
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f...	OMIM:251880
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin...	OMIM:309300
Facial Clefting, Oblique, 1	Cleft palate, Microphthalmia	OMIM:600251
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Bilateral ptosis, Decreased circulating IgA level, Sparse eyelas...	OMIM:620040
Fanconi Anemia	Hearing impairment, Aplasia/Hypoplasia of the uvula, Atrial septal defect, Microphthalmia, High p...	ORPHA:84
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Sparse eyebrow, Highly arched eyebrow, Eczematoid dermatitis, Pa...	ORPHA:3132
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increa...	ORPHA:731
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Prof...	OMIM:619418
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Sepsis In Premature Infants	Oliguria, Functional abnormality of the gastrointestinal tract, Leukocytosis, Splenomegaly, Rever...	ORPHA:90051
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hepatomegaly	OMIM:201100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis...	OMIM:221900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Otodental Syndrome	Cataract, Microcornea, Progressive sensorineural hearing impairment, High-frequency sensorineural...	ORPHA:2791
Acute Disseminated Encephalomyelitis	Optic neuritis, Myelitis, Herpes simplex encephalitis, Viral hepatitis	ORPHA:83597
Microphthalmia, Syndromic 9	Low-set ears, Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Bilateral microph...	OMIM:601186
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Rig...	OMIM:616028
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Remnants of the hyaloid vascular system, Microphthalmia, Posterior lenticonus, Iris ...	ORPHA:231736
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Multicystic kidney dysplasia, Iris coloboma, Cataract, Microcornea, Microphthalmia...	ORPHA:3301
Congenital Primary Aphakia	Corneal perforation, Optic disc coloboma, Aniridia, Microphthalmia, Aplasia/Hypoplasia affecting ...	ORPHA:83461
Cockayne Syndrome	Lentiglobus, Microphthalmia, Hepatomegaly, Nephrotic syndrome, Urinary incontinence, Optic disc p...	ORPHA:191
Degcags Syndrome	Low-set ears, Chronic kidney disease, Hearing impairment, Oral-pharyngeal dysphagia, Cholestasis,...	OMIM:619488
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Hearing impairment, Recurrent otitis media, Heparan sulfate excret...	OMIM:309900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Oligosacchariduria, Retinal detachment, Microphthalmia, High palate, Cleft palate	ORPHA:163649
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low-set ears, Hearing impairment, Bilateral microphthalmos, Abnormal heart morphology, Patent for...	ORPHA:369891
Immunodeficiency 31C	Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Decreased lymphocyte proliferation in r...	OMIM:614162
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
Mosaic Variegated Aneuploidy Syndrome	Cataract, Multicystic kidney dysplasia, Hearing impairment, Low-set, posteriorly rotated ears, As...	ORPHA:1052
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Microphthalmia/Coloboma 9	Low-set ears, Microcornea, Macular coloboma, Retinal detachment, Ocular anterior segment dysgenes...	OMIM:615145
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Orthostatic hypotension due to autonomic dys...	ORPHA:66628
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Ascites...	OMIM:306400
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Downs...	ORPHA:79329
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr...	ORPHA:98849
Marden-Walker Syndrome	High, narrow palate, Low-set ears, Renal hypoplasia, Zollinger-Ellison syndrome, Dextrocardia, Mi...	OMIM:248700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Optic atrophy, Cataract, Optic nerve hypoplasia, Peters anomaly, Atresia of the ext...	OMIM:236670
Mend Syndrome	Low-set ears, Aortic valve stenosis, Cataract, Abnormal auditory evoked potentials, Abnormal hear...	ORPHA:401973
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Elevated circulating creatine kinase conc...	ORPHA:79240
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Leukemi...	OMIM:210900
Scheie Syndrome	Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing impairment, Mucopolysacch...	ORPHA:93474
Bartsocas-Papas Syndrome 2	Low-set ears, Axillary pterygium, Popliteal pterygium, Microphthalmia, Bilateral cleft palate, Co...	OMIM:619339
Microphthalmia/Coloboma 12	Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants of the ...	OMIM:120200
Warburg Micro Syndrome 2	Optic atrophy, Undetectable visual evoked potentials, Cataract, Microcornea, Asymmetry of the ear...	OMIM:614225
Giant Cell Arteritis	Vasculitis, Hepatic failure, Epistaxis, Mediastinal lymphadenopathy, Cerebral ischemia, Arrhythmi...	ORPHA:397
Temtamy Syndrome	Low-set ears, Iris coloboma, Microphthalmia	ORPHA:1777
Microphthalmia, Syndromic 8	Microcornea, Cleft palate, Microphthalmia	OMIM:601349
Pierson Syndrome	Cataract, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger anomaly, Uveal ectropion...	OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Cataract, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati...	OMIM:253800
Porphyria, Congenital Erythropoietic	Cholelithiasis, Conjunctivitis, Elevated circulating uroporphyrin concentration, Corneal scarring...	OMIM:263700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Cholestasis, Hepatosplenomegaly, Sen...	OMIM:614866
Fryns Syndrome	Low-set ears, Abnormal helix morphology, Ectopic pancreatic tissue, Meckel diverticulum, Polysple...	OMIM:229850
Warburg Micro Syndrome 4	Optic atrophy, Microcornea, Decreased motor nerve conduction velocity, Developmental cataract, Mi...	OMIM:615663
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Orthostatic hypotension due to autonomic dys...	ORPHA:179494
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Decre...	ORPHA:167
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension...	ORPHA:90062
Systemic Sclerosis	Intestinal bleeding, Right ventricular failure, Nail bed telangiectasia, Osteomyelitis, Elevated ...	ORPHA:90291
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Macular atrophy, Retinal detachment, Microphthalmia, Buphthalmos, Iri...	OMIM:212550
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Ileus, Splenomegaly, Sensorineural hearing impairment, Heterochromia iridis, Aganglio...	ORPHA:163746
Congenital Tufting Enteropathy	Cholestatic liver disease, Cataract, Optic disc coloboma, Abnormal large intestinal mucosa morpho...	ORPHA:92050
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Hypocalcem...	OMIM:607143
Vitreoretinochoroidopathy	Microcornea, Pigmentary retinopathy, Pulverulent cataract, Retinal detachment, Retinal neovascula...	OMIM:193220
Lathosterolosis	Intrahepatic cholestasis, Cataract, Microcornea, Hearing impairment, Horseshoe kidney, Abnormal p...	ORPHA:46059
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Sparse eyebrow, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly...	OMIM:607626
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Cogan Syndrome	Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Episcleritis, Leukocytosis,...	ORPHA:1467
Viss Syndrome	Atopic dermatitis, Eczematoid dermatitis, Increased circulating IgE level, Chronic gastritis, Dec...	OMIM:619472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Retin...	OMIM:614643
Biemond Syndrome Type 2	Hypospadias, Microphthalmia	ORPHA:141333
Trisomy 10P	Low-set ears, Gastroesophageal reflux, Abnormal auditory evoked potentials, Abnormal heart morpho...	ORPHA:171929
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia	OMIM:614526
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Hypospadias, Gastroesophageal reflux, HbH hemoglobin, Protruding tongue, Sensorineu...	OMIM:301040
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Neuromuscular dysphagia, Decreased ne...	ORPHA:206443
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Hypercalcemia, ...	ORPHA:99880
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Stomatocytosis, Hepatosplenomegaly, Zonular cataract, Jau...	ORPHA:168577
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Low-set ears, Bifid uvula, Intestinal malrotation, Abnormal heart morphology, Abnormal gastrointe...	ORPHA:404440
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Retinal coloboma, Microphthalmia	ORPHA:363741
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Microphthalmia, Micropenis, Cleft palate, Optic nerve hypopl...	OMIM:610125
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Low-set ears, Cataract, Retinal coloboma, Abnormal heart morphology, Astigmatism, Protruding ear,...	OMIM:618571
Oculoauricular Syndrome	Low-set ears, Cataract, Microcornea, Posterior synechiae of the anterior chamber, Retinal colobom...	OMIM:612109
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal detachment, Corneal opacity	ORPHA:2788
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Overfolded helix, Cupped ear, Persistence of hemoglobin F	OMIM:617101
Chronic Granulomatous Disease	Liver abscess, Otitis media, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality o...	ORPHA:379
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Retinal coloboma, Microphthalmia	OMIM:601794
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Cupped ear, Patent foramen ovale, Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Adams-Oliver Syndrome 2	Low-set ears, Optic atrophy, Protruding ear, Developmental cataract, Microphthalmia	OMIM:614219
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias	OMIM:250790
Baraitser-Winter Syndrome 1	Low-set ears, Aortic valve stenosis, Sensorineural hearing impairment, Bicuspid aortic valve, Mic...	OMIM:243310
Parathyroid Carcinoma	Shortened QT interval, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Hypercalcemia, ...	ORPHA:143
Meckel Syndrome, Type 2	Intestinal malrotation, Renal cyst, Microphthalmia, Bile duct proliferation, Cleft palate	OMIM:603194
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess, Osteomyelit...	ORPHA:31204
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Cerebral ischem...	OMIM:242900
Agel Amyloidosis	Cataract, Xerostomia, Hearing impairment, Cardiomyopathy, Stage 5 chronic kidney disease, Orthost...	ORPHA:85448
Mucopolysaccharidosis Type 6	Hearing impairment, Abnormal heart valve morphology, Splenomegaly, Mucopolysacchariduria, Macrogl...	ORPHA:583
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Enterocolitis, Decreased proportion of class-switched memory B cells, Ulcerative coliti...	OMIM:614878
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Lacrimal Duct Defect	Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis	OMIM:149700
Temtamy Syndrome	Low-set ears, Ectopia lentis, Microphthalmia, Iris coloboma, Lop ear, Lens luxation	OMIM:218340
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Hearing impairment, Renal insufficiency, Splenome...	ORPHA:33226
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Cohen Syndrome	High, narrow palate, Aplasia/Hypoplasia of the earlobes, Optic atrophy, Aplasia/Hypoplasia of the...	ORPHA:193
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Hypophosphatemia, P...	OMIM:239200
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic...	OMIM:610256
Galloway-Mowat Syndrome 1	Low-set ears, Optic atrophy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Cataract, Hypop...	OMIM:251300
Nephronophthisis-Like Nephropathy 1	Hypertension, Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Conductive hearing impairment, Optic disc hypoplasia, Optic disc coloboma,...	ORPHA:959
Frontofacionasal Dysplasia	Cataract, Microcornea, Limbal dermoid, Microphthalmia, Brushfield spots, Iris coloboma, Cleft palate	ORPHA:1791
Dubowitz Syndrome	Decreased circulating IgG level, Short palpebral fissure, Aplastic anemia, Eczematoid dermatitis,...	OMIM:223370
Curry-Jones Syndrome	Intestinal malrotation, Iris coloboma, Optic disc coloboma, Microphthalmia	ORPHA:1553
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cataract, Sensorineural hearing impairment	OMIM:214150
Familial Exudative Vitreoretinopathy	Cataract, Hearing impairment, Tractional retinal detachment, Abnormal optic disc morphology, Reti...	ORPHA:891
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:261272
Visceral Myopathy 1	Microcolon, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Megaduodenum, Vesicoure...	OMIM:155310
Chops Syndrome	High, narrow palate, Optic atrophy, Cataract, Gastroesophageal reflux, Hearing impairment, Horses...	OMIM:616368
Blau Syndrome	Posterior uveitis, Keratitis, Xerostomia, Abnormality of the liver, Large vessel vasculitis, Skin...	ORPHA:90340
Oculocerebrocutaneous Syndrome	Anophthalmia, Cleft palate, Microphthalmia	OMIM:164180
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl...	ORPHA:90041
Microphthalmia, Lenz Type	Iris coloboma, Cataract, Microcornea, Hydroureter, Hearing impairment, Optic disc coloboma, Low-s...	ORPHA:568
Biotinidase Deficiency	Hyperammonemia, Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating biotinidase...	OMIM:253260
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,...	OMIM:186580
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Von Hippel-Lindau Disease	Retinal capillary hemangioma, Polycythemia, Cardiomyopathy, Palpitations, Myocardial infarction, ...	ORPHA:892
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Cardiomyopathy	ORPHA:1493
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Jaundice, Prol...	OMIM:615512
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Myoclonic-Astatic Epilepsy	EEG with irregular generalized spike and wave complexes, Microphthalmia, EEG with polyspike wave ...	ORPHA:1942
Glycogen Storage Disease Ii	Hearing impairment, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegal...	OMIM:232300
Holoprosencephaly	Optic atrophy, Gastroesophageal reflux, Tetralogy of Fallot, Abnormality of the spleen, Median cl...	ORPHA:2162
Autoimmune Hypoparathyroidism	Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetany, Autoimmune hypoparathy...	ORPHA:36913
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Cataract, Hypochromic anemia, Hearing impairment, Ocular albinism, High pa...	ORPHA:2720
Moebius Syndrome	Bifid uvula, Facial diplegia, Microphthalmia, Micropenis, High palate, Dysphagia, Abnormal pinna ...	OMIM:157900
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Macrotia, Bilateral cleft palate	OMIM:600776
Charge Syndrome	Low-set ears, Lymphopenia, Unilateral microphthalmos, Anophthalmia, Sensorineural hearing impairm...	OMIM:214800
Fabry Disease	Nephropathy, Hearing impairment, Sensorineural hearing impairment, Hematuria, Achalasia, Nephroti...	ORPHA:324
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Pulmonary arteria...	ORPHA:77261
Seckel Syndrome 2	Hypospadias, Microglossia, Ectopic kidney, Microphthalmia	OMIM:606744
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp...	ORPHA:729
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Microphtha...	ORPHA:1806
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Cleft palate, Microphthalmia	ORPHA:1135
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Cataract, Macrotia, Leukocoria, Retinal detachment, Remnants of the hyaloid ...	ORPHA:2714
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Cleft palate, Microphthalmia	ORPHA:2117
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Cataract, Microcornea, Sensorineural hearing impairment, Hydronephrosis, Microphtha...	ORPHA:35173
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Elevated circulating ribitol concentration, Hearing...	ORPHA:488618
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Atrial septal defect, Microphthalmia, Bile duct proliferat...	OMIM:611134
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, Hypothyroidism, Pancreatiti...	ORPHA:733
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Goodpasture Syndrome	Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Proteinuria, Glomerulonephritis, Macro...	OMIM:233450
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Microphthalmia, Chroni...	ORPHA:534
Chromosome 8Q21.11 Deletion Syndrome	Low-set ears, Cataract, Pigmentary retinopathy, Sensorineural hearing impairment, Protruding ear,...	OMIM:614230
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Cataract, Hearing impairment, Lymphopenia, Leukopenia, Noncompaction...	ORPHA:508542
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hyperammonemia, Hepatome...	OMIM:618641
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent...	OMIM:613471
8Q21.11 Microdeletion Syndrome	Low-set ears, Cataract, Iris hypopigmentation, Hearing impairment, Microphthalmia, Corneal opacit...	ORPHA:284160
Baraitser-Winter Syndrome 2	Abnormal pinna morphology, Hearing impairment, Microphthalmia	OMIM:614583
Generalized Eruptive Keratoacanthoma	Ectropion, Conjunctivitis, Keratoconjunctivitis sicca	ORPHA:411777
Lathosterolosis	Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulating lathosterol concentration, Catar...	OMIM:607330
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:613027
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ...	ORPHA:101085
Trichothiodystrophy 1, Photosensitive	Telangiectasia, Decreased circulating IgG level, Keratoconjunctivitis sicca, Erythroderma	OMIM:601675
Meckel Syndrome, Type 1	Accessory spleen, Low-set ears, Malformation of the hepatic ductal plate, Elevated amniotic fluid...	OMIM:249000
Chromosome 13Q33-Q34 Deletion Syndrome	Hypospadias, Penoscrotal transposition, Hearing impairment, Anteriorly placed anus, Left ventricu...	OMIM:619148
Arterial Tortuosity Syndrome	Short palpebral fissure, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyo...	ORPHA:3342
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stom...	ORPHA:29207
3Q29 Microdeletion Syndrome	Low-set ears, Cataract, Gastroesophageal reflux, Horseshoe kidney, Subvalvular aortic stenosis, M...	ORPHA:65286
Pseudotrisomy 13 Syndrome	Low-set ears, Renal hypoplasia, Median cleft palate, Complete atrioventricular canal defect, Vent...	OMIM:264480
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Hearing impairment, Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenom...	OMIM:602782
Dermatomyositis	Vasculitis, Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentrati...	ORPHA:221
Scleromyxedema	Paraproteinemia, Transient ischemic attack, Raynaud phenomenon, Elevated circulating creatine kin...	ORPHA:167635
3P25.3 Microdeletion Syndrome	High, narrow palate, Sensorineural hearing impairment, Ventricular septal defect, Pulmonic stenos...	ORPHA:435638
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Sensorineural hearing impairment, Ventricular septal...	OMIM:206900
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Gastroesophageal reflu...	ORPHA:206436
Arthrogryposis, Distal, Type 2A	High palate, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Cerebrotendinous Xanthomatosis	Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti...	ORPHA:909
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Situs inversus totalis, EEG abnormality, Optic nerve hypoplasia	OMIM:614833
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Bilateral microphthalmos, Hypocalcemic tetany, Papilledema, Developmental cata...	ORPHA:93325
Japanese Encephalitis	Infectious encephalitis, Hyponatremia, Increased circulating antibody level, Neutrophilia, Eyelid...	ORPHA:79139
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Low-set ears, Cholelithiasis, Microcornea, Male urethral meatus stenosis, Fu...	ORPHA:464738
Trisomy 18	Pointed helix, Cataract, Microcornea, Low-set, posteriorly rotated ears, Abnormality of retinal p...	ORPHA:3380
Martsolf Syndrome 1	Low-set ears, Cataract, Cardiomyopathy, Micropenis, Developmental cataract, Microphthalmia, Promi...	OMIM:212720
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Congenital sensorineural hearing impairment, Microphthalmia, Iris transill...	OMIM:617306
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Anteriorly placed anus, Ocular albinism, Abnormal cardiac septum morphology, Micropht...	ORPHA:1352
Joubert Syndrome 14	Low-set ears, Optic atrophy, Ventricular septal defect, Renal cyst, Microphthalmia, Posteriorly r...	OMIM:614424
Focal Dermal Hypoplasia	Low-set ears, Multicystic kidney dysplasia, Gastroesophageal reflux, Ectopia lentis, Hearing impa...	ORPHA:2092
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir...	ORPHA:1560
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Bifid uvula, Hyperphosphatemia, Hypocalcemia, Microphthalmia, Micropenis, Hypocalce...	OMIM:241410
Traboulsi Syndrome	Bifid uvula, Cataract, Homocystinuria, Ectopia lentis, Phakodonesis, Microphthalmia, Iris atrophy...	OMIM:601552
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Bilateral conductive hearing impairment, Atresia of the external auditory canal, An...	OMIM:620186
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubin...	OMIM:619991
Trichothiodystrophy	High, narrow palate, Microcornea, Macular degeneration, Increased mean corpuscular hemoglobin con...	ORPHA:33364
Stevenson-Carey Syndrome	Low-set ears, Gastroesophageal reflux, Atrial septal defect, Microphthalmia, Posteriorly rotated ...	OMIM:611961
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Facial paralysis, Ectopia pupillae, Hypoplasia of the iris, Peripapillary atrophy, A...	OMIM:175780
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation, Cleft palate, Microphthalmia	OMIM:611561
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Ventricular septal defect, Hydronephrosis, Subvalvular ao...	OMIM:613001
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Buphthalmos, Microp...	OMIM:613150
Mosaic Trisomy 1	Low-set ears, Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, He...	ORPHA:1692
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Portal hypertension, Hydronephrosis	OMIM:619431
Treacher-Collins Syndrome	Cataract, Conductive hearing impairment, Narrow internal auditory canal, Glossoptosis, Hypoplasia...	ORPHA:861
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Hearing impairment, Recurrent otitis media, Proteinuria, Atrial sep...	ORPHA:2728
Microphthalmia, Isolated 8	Retinal coloboma, True anophthalmia, Anophthalmia, Retinal detachment, Microphthalmia, Optic nerv...	OMIM:615113
Adult-Onset Autosomal Dominant Leukodystrophy	Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten...	ORPHA:99027
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia	OMIM:230900
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Tetraamelia Syndrome 1	Low-set ears, Cataract, Urethral atresia, Microphthalmia, Asplenia, Anal atresia, Cleft palate	OMIM:273395
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Low-set ears, Optic atrophy, Hypospadias, Gastroesophageal reflux, Annular pancreas, Peters anoma...	OMIM:616975
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Hearing impairment, Elevated 8(9)-cholestenol, Hydronephrosis, Microphthalmia, Elevated...	OMIM:302960
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Highly arched eyebrow, Epicanthus inversus, Decreased circulatin...	OMIM:617062
Encephalitis Lethargica	Bradycardia, Increased circulating antibody level	ORPHA:83600
1Q21.1 Microdeletion Syndrome	Cataract, Ankyloglossia, Vesicoureteral reflux, Sensorineural hearing impairment, Hydronephrosis,...	ORPHA:250989
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Cupped ear, Bilateral microphthalmos, Abnormality of cartilage of externa...	ORPHA:2399
Monosomy 18P	Macrotia, Abnormal antihelix morphology, Protruding ear, Microphthalmia, Cleft palate	ORPHA:1598
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Elevated circu...	OMIM:606002
Histiocytoid Cardiomyopathy	Optic atrophy, Megalocornea, Congenital aphakia, Microphthalmia, Ventricular septal defect, Cardi...	ORPHA:137675
Oculopalatocerebral Syndrome	Leukocoria, Remnants of the hyaloid vascular system, Cleft palate, Microphthalmia	OMIM:257910
Incontinentia Pigmenti	Optic atrophy, Cataract, Keratitis, Leukocytosis, Hypoplasia of the fovea, Eosinophilia, Retinal ...	OMIM:308300
Galloway-Mowat Syndrome 3	Low-set ears, Hypoalbuminemia, Stage 5 chronic kidney disease, Hiatus hernia, Proteinuria, Diffus...	OMIM:617729
Heart And Brain Malformation Syndrome	High, narrow palate, Low-set ears, Gastroesophageal reflux, Ventricular septal defect, Attached e...	OMIM:616920
Frontonasal Dysplasia 3	Low-set ears, Posteriorly rotated ears, Cleft palate, Microphthalmia	OMIM:613456
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microcornea, Ventricular septal defect, Keratoconjunctivitis sicca, Microphthalmia...	OMIM:234050
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality...	ORPHA:2072
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Dilated cardiomyopathy, Hearing impairment, Abnormal earlobe morpholog...	ORPHA:2556
African Trypanosomiasis	Myelitis, Keratitis, Third degree atrioventricular block, Second degree atrioventricular block, C...	ORPHA:3385
Fg Syndrome Type 1	Abnormal large intestine morphology, Gastroesophageal reflux, Cupped ear, Optic nerve hypoplasia,...	ORPHA:93932
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Neopla...	ORPHA:2241
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Gly...	OMIM:600001
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Cataract, Pigmentary retinopathy, Decreased nerve conduction velocity, Sensorineur...	OMIM:610651
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Urinary incontinence, EEG abnormality	ORPHA:206448
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Optic disc coloboma, Microphthalmia	OMIM:169550
Glycerol Kinase Deficiency	Adrenal insufficiency, Chronic pancreatitis, Hypertriglyceridemia, Hyperglycerolemia, Reduced gly...	OMIM:307030
Exudative Vitreoretinopathy 2, X-Linked	Retinal neovascularization, Shallow anterior chamber, Retinal detachment, Microphthalmia	OMIM:305390
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Iris coloboma, Renal hypoplasia, Hearing impairment, Retinal coloboma, Horseshoe kidney, Exocrine...	ORPHA:508498
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Erythema nodosum, Hepatomegaly, Tubulointerstitial ne...	ORPHA:797
Alport Syndrome 3A, Autosomal Dominant	Nephritis, Nephrocalcinosis, Hearing impairment, Stage 5 chronic kidney disease, Renal insufficie...	OMIM:104200
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag...	OMIM:219800
Hennekam Syndrome	Low-set ears, Conductive hearing impairment, Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly...	ORPHA:2136
Alagille Syndrome 1	Low-set ears, Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Ci...	OMIM:118450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Microphthalmia, Cataract, Buphthalmos, Elevated circulating creatine kinase concentration	OMIM:616538
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Ectopia pupillae, Macular atrophy, Abnormality of retinal pigmentation, Reti...	ORPHA:85167
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Low-set, posteriorly rotated ears, Microphthalmia, Hypospadias, Abnormal pinna morph...	ORPHA:2505
Knobloch Syndrome	Cataract, Macular degeneration, Ectopia lentis, Bifid ureter, Vesicoureteral reflux, Retinal deta...	ORPHA:1571
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Renal hypoplasia, Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Steinfeld Syndrome	Bifid uvula, Hearing impairment, Retinal coloboma, Abnormal heart morphology, Absent gallbladder,...	OMIM:184705
Microphthalmia, Syndromic 2	Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Sensorineural hearing impairment, Ven...	OMIM:300166
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Hydrolethalus	Low-set ears, Bifid uvula, Low-set, posteriorly rotated ears, Anophthalmia, Submucous cleft hard ...	ORPHA:2189
Okamoto Syndrome	Low-set ears, Aortic valve stenosis, Abnormal helix morphology, Exaggerated median tongue furrow,...	ORPHA:2729
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cupped ear, Conjunctival hyperemia, Microphthalmia	OMIM:167730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Mydriasis, Anuria, Ileal atresia, Megacystis, Pyelonephritis, Sensorineural hearing i...	OMIM:619351
Mycophenolate Mofetil Embryopathy	Iris coloboma, Atresia of the external auditory canal, Hearing impairment, Anotia, Ventricular se...	ORPHA:268249
Rodrigues Blindness	Protruding ear, Microcornea, Sclerocornea, Microphthalmia	OMIM:268320
Roberts Syndrome	Cataract, Long penis, Thrombocytopenia, Microphthalmia, Absent earlobe, High palate, Polycystic k...	ORPHA:3103
Occipital Horn Syndrome	Hepatitis, Downslanted palpebral fissures, Cholestasis, Esophagitis, Jaundice	ORPHA:198
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Nephrocalcinosis, Cataract, Conductive hearing impairment, Elliptocytosis, Submucous...	OMIM:300990
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Increased hepatic echogenicity, Optic disc coloboma, Ectopia pupillae, Recurrent otitis media, Mi...	OMIM:608940
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Granulomato...	OMIM:608710
Xeroderma Pigmentosum, Variant Type	Keratitis, Cutaneous telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278750
Frontorhiny	Cataract, Low-set, posteriorly rotated ears, Microphthalmia, Congenital conductive hearing impair...	ORPHA:391474
Pelvis-Shoulder Dysplasia	Microcornea, Microglossia, Bilateral microphthalmos, Retinal coloboma, Hydronephrosis, Iris colob...	ORPHA:2839
Onychotrichodysplasia And Neutropenia	Curly eyelashes, Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Chronic neutropen...	OMIM:258360
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Optic nerve compression, Abnormal pulmonary valve morphology, Splenomegaly, O...	ORPHA:667
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278740
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Renal hypoplasia, Intestinal malrotation, Cleft soft palate, Leukocytosis, Hepatic...	OMIM:619321
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration...	ORPHA:77293
Beckwith-Wiedemann Syndrome	Nephropathy, Hearing impairment, Abnormal earlobe morphology, Hepatoblastoma, Hepatomegaly, Visce...	ORPHA:116
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Ptosis, Arrhythmia, Tubulointerstitial nephritis, Conjunctivitis, Recurr...	ORPHA:33001
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Low-set ears, Bilateral microphthalmos, Posteriorly rotated ears, Cleft pala...	OMIM:607597
Nance-Horan Syndrome	Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia, Macrotia	OMIM:302350
Deafness, X-Linked 7	Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear...	OMIM:301018
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy	OMIM:616881
Aicardi Syndrome	Optic atrophy, Gastroesophageal reflux, Optic disc coloboma, Intestinal polyposis, Abnormality of...	ORPHA:50
Pallister-Hall Syndrome	Renal hypoplasia, Microglossia, Hydroureter, Atresia of the external auditory canal, Anteriorly p...	OMIM:146510
Xeroderma Pigmentosum, Complementation Group D	Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Entropion, Ect...	OMIM:278730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Elevated circulating creatine ki...	OMIM:253280
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Cataract, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Cataract, Anophthalmia, Abnormality of retinal pigmentation, Protruding ear, Retin...	ORPHA:2526
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Ventricular septal defect, Microphthalmia, High palate, Cleft palate, Microtia	OMIM:612530
Microphthalmia, Syndromic 11	Cleft palate, Microphthalmia	OMIM:614402
Microphthalmia With Limb Anomalies	Low-set ears, Anophthalmia, Microphthalmia, High palate, Posteriorly rotated ears, Cleft palate	OMIM:206920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Microcolon, Hydroureter, Abnormal heart morphology	OMIM:619362
Teebi-Shaltout Syndrome	High, narrow palate, Low-set ears, Hypoplastic helices, Aortic valve stenosis, Ureteral stenosis,...	OMIM:272950
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea, Hypospadias	OMIM:615877
Incontinentia Pigmenti	Cataract, Keratitis, Eosinophilia, Retinal detachment, Corneal opacity, Microphthalmia, Retinal h...	ORPHA:464
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Cleft palate, Microphthalmia	ORPHA:1915
Joubert Syndrome 2	Low-set ears, Nephronophthisis, Optic disc coloboma, Renal insufficiency, Renal cyst, Microphthal...	OMIM:608091
Skin Creases, Congenital Symmetric Circumferential, 1	Low-set ears, Microcornea, Microphthalmia, Overfolded helix, High palate, Posteriorly rotated ear...	OMIM:156610
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a...	ORPHA:56
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Aortic valve stenosis, Allergic conjunctivitis, Impaired T cell function	OMIM:176690
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis, Pulmonary arterial hypertension, Hypercholesterolemia, Orthostatic hypote...	OMIM:606721
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Alström Syndrome	Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentration, Hepatosplenomeg...	ORPHA:64
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Cataract, Multicystic kidney dysplasia, Abnormal right ventricle morphology, Retinal coloboma, Bi...	ORPHA:500095
Townes-Brocks Syndrome	Hearing impairment, Atrial septal defect, Rectoperineal fistula, Microphthalmia, Anal atresia, Re...	ORPHA:857
Cerebrooculofacioskeletal Syndrome 4	Low-set ears, Bilateral microphthalmos, Abnormal heart morphology, EEG abnormality, Posteriorly r...	OMIM:610758
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis, Abnormality of T cell physiology, Hypocalcemia, Hypoparathyroidism, Hypo...	ORPHA:2237
Renpenning Syndrome 1	Cataract, Renal hypoplasia, Cupped ear, Hearing impairment, Macrotia, Tetralogy of Fallot, Situs ...	OMIM:309500
Joubert Syndrome 21	Optic atrophy, Splenomegaly, Megalopapilla, Sensorineural hearing impairment, Anophthalmia, Renal...	OMIM:615636
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Hamartoma of tongue, Tetralogy of Fallot, Absent gallbladder, Complete atrioventric...	OMIM:617925
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Moderate albuminuria, Gastroesophageal reflux, Increased hepatic echogenicity, Micr...	OMIM:619525
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Cataract, Microcornea, Large earlobe, Microphthalmia, Persistent pupillary membrane	OMIM:257850
Rothmund-Thomson Syndrome, Type 2	Cataract, Microcornea, Prominent antihelix, Annular pancreas, Anteriorly placed anus, Underfolded...	OMIM:268400
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Hepatic steatosis, Ventricular septal defect, Posterior emb...	OMIM:188400
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivitis	ORPHA:91416
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278720
Vacterl With Hydrocephalus	Microcornea, Microtia, third degree, Anotia, Anophthalmia, Tracheoesophageal fistula, Esophageal ...	ORPHA:3412
Branchiooculofacial Syndrome	Low-set ears, Hearing impairment, Ectopic thymus tissue, Anophthalmia, Sensorineural hearing impa...	OMIM:113620
Cousin Syndrome	Low-set ears, Microcornea, Microglossia, Microtia, first degree, Hearing impairment, Hydronephros...	OMIM:260660
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Decreased level of plasminogen, Periodontitis	OMIM:217090
Oculodentodigital Dysplasia	Cataract, Microcornea, Conductive hearing impairment, Neurogenic bladder, Atrial septal defect, M...	OMIM:164200
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A...	OMIM:600886
Ohdo Syndrome, X-Linked	Low-set ears, Hearing impairment, Hiatus hernia, Microphthalmia, Micropenis, High palate, Posteri...	OMIM:300895
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Iris coloboma, Ankyloglossia, Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft p...	OMIM:618874
Bartsocas-Papas Syndrome 1	Low-set ears, Axillary pterygium, Anal stenosis, Popliteal pterygium, Cupped ear, Pterygium, Pate...	OMIM:263650
Aymé-Gripp Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Long eyelashes, Upslanted palpebral fissure, Sh...	ORPHA:1272
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Cataract, Anophthalmia, Submucous cleft hard palate, Microphthalmia, Hypoplasia of p...	ORPHA:2250
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Macrotia, Hamartoma of tongue, Renal cyst, Microphthalmia, Bifid tongue, Anal a...	OMIM:616300
Phace Association	Optic atrophy, Ventricular septal defect, Horner syndrome, Developmental cataract, Microphthalmia...	OMIM:606519
Neuroocular Syndrome 1	Low-set ears, Cataract, Microcornea, Short uvula, Cupped ear, Peters anomaly, Ankyloglossia, Ante...	OMIM:619539
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Microphthalmia, Iris coloboma	OMIM:601707
Proboscis Lateralis	Unilateral renal agenesis, Microcornea, Cataract, Duplication of renal pelvis, Optic disc colobom...	ORPHA:141099
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Low-set ears, Protruding ear, Cleft palate, Microphthalmia	OMIM:620098
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal cranial nerve morphology, Anopht...	ORPHA:138
Velocardiofacial Syndrome	Impaired T cell function, Hypocalcemia, Blepharophimosis, Narrow palpebral fissure, Hypoparathyro...	OMIM:192430
Garg-Mishra Progeroid Syndrome	Microphthalmia, Microvesicular hepatic steatosis	OMIM:620601
2Q31.1 Microdeletion Syndrome	Low-set ears, Optic disc coloboma, Ventricular septal defect, Atrial septal defect, Microphthalmi...	ORPHA:251014
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Low-set, posteriorly rotated ears, Abnormal cardiac septum morphology, Mi...	ORPHA:2166
Yunis-Varon Syndrome	High, narrow palate, Low-set ears, Cataract, Hearing impairment, Cardiomyopathy, Bilateral microp...	ORPHA:3472
Phace Syndrome	Cataract, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia iridis, Abnormal cardiac ...	ORPHA:42775
Meckel Syndrome 14	Low-set ears, Hepatic fibrosis, Single ventricle, Microphthalmia, Polycystic kidney dysplasia	OMIM:619879
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Axenfeld anomaly, Se...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Ectopia pupillae, Recurrent otitis media, Ax...	ORPHA:261552
Norrie Disease	Optic atrophy, Abnormal helix morphology, Cataract, Ectopia lentis, Hypoplasia of the iris, Abnor...	ORPHA:649
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anteriorly placed anus, Anophthalmia, Microphthalmia, Corneopalpebral synechiae	OMIM:248450
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Microphthalmia	ORPHA:228390
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Axenfeld anomaly, Se...	ORPHA:261537
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Microphthalmia	OMIM:300863
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Hallermann-Streiff Syndrome	High, narrow palate, Low-set ears, Cataract, Optic disc coloboma, High palate, Microphthalmia, Na...	OMIM:234100
Basal Cell Nevus Syndrome 1	Cataract, Cardiac rhabdomyoma, Cardiac fibroma, Microphthalmia, Hamartomatous stomach polyps, Iri...	OMIM:109400
Fraser Syndrome 1	Low-set ears, Renal hypoplasia, Cupped ear, Atresia of the external auditory canal, Conductive he...	OMIM:219000
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect, Recurrent corneal erosions, Microphthalmia, Conju...	OMIM:153400
Aicardi Syndrome	Optic atrophy, Cataract, Optic disc coloboma, Hiatus hernia, Hepatoblastoma, Retinal detachment, ...	OMIM:304050
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Cholestasis, Dark uri...	OMIM:619534
Mowat-Wilson Syndrome	Iris coloboma, Abnormal enteric ganglion morphology, Microcornea, Cupped ear, Cataract, Ectopia p...	OMIM:235730
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Cataract, Conductive hearing impairment, Atresia of the external auditory canal, M...	OMIM:603457
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia	ORPHA:2717
Ayme-Gripp Syndrome	Downslanted palpebral fissures, Upslanted palpebral fissure, Broad eyebrow, Ptosis, Pericarditis	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	Microglossia, Hearing impairment, Corneal opacity, Microphthalmia, Small earlobe, Cleft palate	ORPHA:364577
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Microphthalmia	ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Congenital hypothyroidism, Neutropenia	OMIM:271510
Hydrolethalus Syndrome 1	Accessory spleen, Low-set ears, Complete atrioventricular canal defect, Ventricular septal defect...	OMIM:236680
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Bilateral vestibular schwannoma, Vestibular schwannoma, Sensorine...	ORPHA:637
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Low-set ears, Microglossia, Exaggerated median tongue furrow, Submucous cleft soft palate, Sensor...	OMIM:608670
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Iris atrophy, Microphthalmia, Mixed hearing impairment, Cleft palate	OMIM:201180
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Corne...	OMIM:309000
Microphthalmia, Syndromic 1	Low-set ears, Hearing impairment, Recurrent otitis media, Anophthalmia, Bicuspid aortic valve, Mi...	OMIM:309800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Popliteal pterygium, Cupped ear, Hearing impairment, Hor...	OMIM:609945
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Low-set ears, Hypospadias, Long penis, Cataract, Horseshoe kidney, Opacificatio...	OMIM:268300
Chromosome 13Q14 Deletion Syndrome	Low-set ears, Hearing impairment, Microphthalmia, Patent foramen ovale, Ventricular septal defect...	OMIM:613884
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Corneal stromal edema, Corneal opacity, Sensorineural hearing impairment	OMIM:601812
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia	OMIM:300952
Johanson-Blizzard Syndrome	Sensorineural hearing impairment, Ventricular septal defect, Atrial septal defect, Hepatomegaly, ...	OMIM:243800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Microphallus, Thin ear helix, Low-set, posteriorly rotated ears, Bilat...	ORPHA:468631
Focal Dermal Hypoplasia	Low-set ears, Optic atrophy, Ectopia lentis, Anteriorly placed anus, Intestinal malrotation, Hors...	OMIM:305600
Tetrasomy 9P	Downslanted palpebral fissures, Glue ear, Absent gallbladder, Biliary atresia, Myositis, Epicanth...	ORPHA:3310
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, High palate, Cupped ear, Microphthalmia	OMIM:110100
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Microphthalmia	OMIM:619135
Hallermann-Streiff Syndrome	High, narrow palate, Abdominal situs inversus, Developmental cataract, Microphthalmia, Glossoptosis	ORPHA:2108
Monosomy 9Q22.3	Low-set ears, Cataract, Cardiac fibroma, Thickened ears, Microphthalmia	ORPHA:77301
Myhre Syndrome	Low-set ears, Aortic valve stenosis, Cataract, Hearing impairment, Ventricular septal defect, Atr...	OMIM:139210
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Monosomy 13Q14	Low-set ears, Cataract, Protruding ear, Abnormality of the gastrointestinal tract, Microphthalmia...	ORPHA:1587
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Hypospadias, Microcornea, Ureterocele, Uplifted earlobe, Microphthalmia, Overfolded...	OMIM:616734
Microcephaly-Micromelia Syndrome	Low-set ears, Cleft palate, Microphthalmia	OMIM:251230
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Ventricular septal defect, Phthisis bulbi, Absent anterior chamber of the...	OMIM:259770
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Bifid uvula, Cataract, Muscular ventricular septal defect, Nuclear pulverulent cata...	OMIM:612474
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Symblepharon, Trichiasis, Inflammatory abnormality of the skin, Keratitis, Xerostomia,...	ORPHA:95455
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Atresia of the external auditory canal, Hearing impairment, Tetralogy of Fallot, Absent gallbladd...	ORPHA:3186
Microphthalmia With Limb Anomalies	Optic atrophy, Low-set, posteriorly rotated ears, Large earlobe, Horseshoe kidney, True anophthal...	ORPHA:1106
Frontonasal Dysplasia 2	Low-set ears, Microphthalmia	OMIM:613451
Fontaine Progeroid Syndrome	High, narrow palate, Low-set ears, Gastroesophageal reflux, Conductive hearing impairment, Anteri...	OMIM:612289
8Q24.3 Microdeletion Syndrome	Unilateral renal agenesis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Bilateral renal ...	ORPHA:508488
Monosomy 9P	Low-set ears, Atresia of the external auditory canal, Anotia, Ureteropelvic junction obstruction,...	ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Conductive hearing impairment, Low-set, posteriorly rotated ears, Tetralogy of Fallot, ...	ORPHA:306542
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Large earlobe, Hypoplasia of the ear cartilage, Iris coloboma, Microphthalmia	ORPHA:1236
Momo Syndrome	Underfolded helix, High palate, Bilateral microphthalmos	ORPHA:2563
Linear Nevus Sebaceus Syndrome	Iris coloboma, EEG abnormality, Microphthalmia	ORPHA:2612
Microphthalmia, Syndromic 6	Low-set ears, Bifid uvula, Renal hypoplasia, Microglossia, Microcornea, Hearing impairment, Macro...	OMIM:607932
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia	OMIM:250220
Fraser Syndrome	Anal stenosis, Hypoplasia of penis, Conductive hearing impairment, Atresia of the external audito...	ORPHA:2052
Frontofacionasal Dysplasia	Bifid uvula, Microcornea, Cataract, Microphthalmia, Iris coloboma	OMIM:229400
Witteveen-Kolk Syndrome	High, narrow palate, Cataract, Iris coloboma, Gastroesophageal reflux, Cupped ear, Hearing impair...	OMIM:613406
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Intestinal polyposis, Narrow palate, Hamartomatous polyposis...	ORPHA:109
Holoprosencephaly 7	Iris coloboma, Bilateral microphthalmos, Median cleft palate, Bilateral cleft palate, Unilateral ...	OMIM:610828
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:79318
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:100300
Holoprosencephaly 9	Prominent antihelix, Underdeveloped tragus, Anophthalmia, Bilateral cleft palate, Short hard pala...	OMIM:610829
Restrictive Dermopathy	Low-set ears, Microcolon, Submucous cleft hard palate, Transposition of the great arteries, Atria...	ORPHA:1662
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Sparse eyebrow, Downslanted palpebral fissures, Transient ischem...	ORPHA:500150
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Neu-Laxova Syndrome 1	Low-set ears, Cataract, Macrotia, Pterygium, Patent foramen ovale, Ventricular septal defect, Tra...	OMIM:256520
Acromelic Frontonasal Dysostosis	Low-set ears, Submucous cleft soft palate, Remnants of the hyaloid vascular system, Cleft palate,...	OMIM:603671
Holoprosencephaly 2	Bifid uvula, Median cleft palate, Submucous cleft hard palate, Bilateral cleft palate, Remnants o...	OMIM:157170
Pallister-Hall Syndrome	Bifid uvula, Unilateral renal agenesis, Microglossia, Auricular tag, Atresia of the external audi...	ORPHA:672
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Nk-Cell Enteropathy	Increased T cell count, Hematochezia	ORPHA:263665
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Duplicated tragus, Conductive hearing impairment, Atresia of the ex...	OMIM:164210
Treacher Collins Syndrome 1	Conductive hearing impairment, Atresia of the external auditory canal, Bilateral microphthalmos, ...	OMIM:154500
Isolated Arrhinia	Microphthalmia, Microtia	ORPHA:1134
Holoprosencephaly 1	Micropenis, Median cleft palate, Microphthalmia, 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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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Histopathology

Human diseases caused by Ppia mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data