banner
Genes Phenotypes Help, News, Blog

Gene: Ppia MGI:97749

Log in to follow

Gene Summary

Name:
peptidylprolyl isomerase A
Synonyms:
cyclophilin A,  CypA,  CyP-18,  Cphn

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased circulating alkaline phosphatase level Ppiaem1(IMPC)Mbp HOM Early adult 2.32×10-29
abnormal auditory brainstem response Ppiaem1(IMPC)Mbp HOM   Early adult 2.88×10-06
increased mean corpuscular volume Ppiaem1(IMPC)Mbp HOM   Early adult 9.83×10-05
small kidney Ppiaem1(IMPC)Mbp HOM Early adult 0.00
increased mean platelet volume Ppiaem1(IMPC)Mbp HOM Early adult 7.64×10-10
decreased heart weight Ppiaem1(IMPC)Mbp HOM Early adult 1.49×10-07
increased mean corpuscular hemoglobin Ppiaem1(IMPC)Mbp HOM   Early adult 7.33×10-05
abnormal vitreous body morphology Ppiaem1(IMPC)Mbp HOM   Early adult 1.24×10-05
increased blood urea nitrogen level Ppiaem1(IMPC)Mbp HOM Early adult 8.55×10-07
enlarged spleen Ppiaem1(IMPC)Mbp HOM Early adult 0.00
decreased erythrocyte cell number Ppiaem1(IMPC)Mbp HOM Early adult 1.69×10-06
abnormal eye morphology Ppiaem1(IMPC)Mbp HOM Early adult 0.00
decreased body length Ppiaem1(IMPC)Mbp HOM Early adult 2.35×10-06
increased spleen weight Ppiaem1(IMPC)Mbp HOM Early adult 4.32×10-13
increased red blood cell distribution width Ppiaem1(IMPC)Mbp HOM   Early adult 4.12×10-06
cataract Ppiaem1(IMPC)Mbp HOM   Early adult 1.21×10-05
microphthalmia Ppiaem1(IMPC)Mbp HOM Early adult 0.00
abnormal colon morphology Ppiaem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Ppiaem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Ppiaem1(IMPC)Mbp HOM Early adult 0.00
megacolon Ppiaem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

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

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Histopathology

Images

2 Images

View images

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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal... OMIM:618982
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, B lymphocytopenia, Increased circulating IgE lev... ORPHA:277
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio... OMIM:212050
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci... OMIM:300635
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Lymphadenopathy, I... OMIM:619220
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Abnormal immunogl... ORPHA:98813
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat... OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev... ORPHA:169154
Immunodeficiency 95
Increased circulating IgG3 level, Decreased circulating IgG3 level, Recurrent viral pneumonia, Ly... OMIM:619773
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis,... OMIM:209950
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... OMIM:615615
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule, Increased circulating IgE level OMIM:614328
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level, Atopic... OMIM:620603
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level, Periodontitis OMIM:162700
Macrophage Activation Syndrome
Decreased liver function, Hypertriglyceridemia, Increased circulating lactate dehydrogenase conce... ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ... OMIM:607271
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Absent leukocyte alkaline phosphatase, Erythroid hypoplasia OMIM:242880
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Histiocytosis, Increased circulating antibody level OMIM:235900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:619752
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Hypertension, Long eyelashes, Pustule, Recurrent pneumonia OMIM:616069
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia, Eczematoid dermatitis OMIM:300988
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Immunodeficiency 105
Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc... OMIM:619924
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem... OMIM:607594
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Abnormality of complement system OMIM:613783
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... OMIM:618282
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology, Epicanthus OMIM:616911
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, Abnormally low T cell receptor excision circle level, B l... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym... ORPHA:276
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody respo... OMIM:240500
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Increased cir... OMIM:618495
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas... OMIM:608106
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating ... OMIM:603909
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon... OMIM:620282
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increas... OMIM:304790
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ... ORPHA:444463
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Low-set ears, Intestinal mal... OMIM:300048
Kimura Disease
Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy ORPHA:482
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Sensorineural hearing impairme... ORPHA:182050
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha... OMIM:300853
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Sclerosing cholangitis, Increased circul... OMIM:243700
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati... OMIM:619510
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Epicanthus, Conjunctivitis, Bronchiectasis... ORPHA:33110
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Decreased circulating IgG ... OMIM:612692
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Increased c... ORPHA:2137
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr... OMIM:615559
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level, Palmoplantar hyperhidrosis OMIM:270300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septal defect, Ascites, Siderob... OMIM:617021
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Blepharitis, Thrombocytopenia,... ORPHA:158029
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased circulating IgG... OMIM:618048
Flotch Syndrome
Inflammatory abnormality of the eye, Abnormal eyelid morphology, Abnormal eyelash morphology, Spa... ORPHA:2045
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:620565
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Sitosterolemia 1
Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elev... OMIM:210250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Progressive sensorineur... ORPHA:494444
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, T lymphocytopenia, Sinusitis, Decrea... ORPHA:572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG... OMIM:102700
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Immunodeficiency 62
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:618459
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea... OMIM:617388
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Skin rash, Abnormality of the tonsils, Abn... ORPHA:47
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:114580
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal eyela... ORPHA:381
Poikiloderma With Neutropenia
Recurrent otitis media, Neutropenia, Nasolacrimal duct obstruction, Skin rash, Elevated circulati... OMIM:604173
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decr... OMIM:256500
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count OMIM:613495
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia, Reduc... OMIM:615214
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... ORPHA:98870
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, Epicanthus OMIM:613506
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Arthritis, B lympho... ORPHA:397596
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De... OMIM:614470
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Skin rash, Arthritis, Leukocytosis, Increased ... ORPHA:37748
Aspergillosis
Increased circulating IgE level, Bronchiectasis, Sinusitis, Osteomyelitis, Keratitis, Intracrania... ORPHA:1163
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Increased circulating I... ORPHA:83313
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased c... OMIM:619281
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Splenomegaly, Abnormal blood ion concent... ORPHA:37042
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe... OMIM:605258
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Recurrent sinusitis, Transient neutropenia, Decreased circulatin... OMIM:619707
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Leukocyto... ORPHA:2902
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Abnormal circulating IgG level, Lymp... OMIM:616636
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Decre... OMIM:614379
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Ectropion, Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjunctivitis OMIM:308800
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Increased circulating lactate dehydrogenase concentration, Granuloma, Splen... OMIM:619802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 10
Autoimmune hemolytic anemia, Increased circulating IgG3 level, Recurrent otitis media, Hepatomega... OMIM:612783
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Increased circulating interleukin 6 concentration, Vasculitis, Hypotension, Abnorma... ORPHA:70578
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Lymphopenia, Hypotension, Pericarditis, Bon... ORPHA:549
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Impaired r... OMIM:231200
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Anemia, Decreased circulating IgE, Capillary leak, Ascite... OMIM:615758
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Hypocholesterolemia, Blepharitis, Decreased LDL choleste... OMIM:616834
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG4 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody l... OMIM:613101
Tularemia
Pneumonia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Inflam... ORPHA:3392
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Sparse eyelashes, Blepharitis, Sparse eyebrow, Keratitis, Conjunctivitis OMIM:612843
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Cholangitis, Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Cutaneous ... OMIM:209920
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Bronchiectasis, Recurre... OMIM:615207
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... ORPHA:178320
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Immunodeficiency 15B
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... OMIM:615592
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent pneumonia, Decreased circulating to... OMIM:613500
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Increased circulating antibody level, Acute pancreatitis, Le... ORPHA:319218
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ... OMIM:618805
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop... OMIM:300755
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Increased blood urea nitrogen, Congenital sensorineural hearing impai... OMIM:617872
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Immunodeficiency 23
Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:615816
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, Optic neuritis, B lymphocytopenia, Decreased circu... OMIM:301081
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Trichohepatoenteric Syndrome 1
Microtia, Cholestasis, Pulmonic stenosis, Renal cortical microcysts, Bifid uvula, Splenomegaly, J... OMIM:222470
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Arthritis, Decreased... OMIM:616100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Netherton Syndrome
Skin rash, Decreased circulating antibody level, Increased circulating IgE level, Eczematoid derm... ORPHA:634
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Diamond-Blackfan Anemia 7
Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral refl... OMIM:612562
Syndromic Diarrhea
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Polycystic kidney dy... ORPHA:84064
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly... OMIM:618935
Igg4-Related Ophthalmic Disease
Palpebral edema, Abnormality of the orbital region, Sinusitis, Increased circulating IgG4 level, ... ORPHA:449563
Lymphoproliferative Syndrome 3
Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo... OMIM:618261
Adult-Onset Still Disease
Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati... ORPHA:829
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Ne... OMIM:226990
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Agammaglobulin... OMIM:613501
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Immunodeficiency 92
Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo... OMIM:619652
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Elevated circulating ... ORPHA:331206
Drug-Induced Lupus Erythematosus
Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:231111
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Decreased res... OMIM:307200
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit... OMIM:243300
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Vasculitis... OMIM:617718
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal atrophy, Hypochromia, Poikilocytosis, El... OMIM:616959
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegal... ORPHA:79312
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Hypohidrosis, Blepharitis, Sparse eyelashes, Eczematoid dermatitis OMIM:618535
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy... ORPHA:2169
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Whim Syndrome 1
Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Ventricular septal defect, Median cleft palate, Hyposegm... OMIM:169400
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul... ORPHA:449395
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Abnormal platelet function, Sinusitis, Epistaxis, Hematochezia... ORPHA:906
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Papa Syndrome
Lymphadenopathy, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pust... ORPHA:69126
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, I... OMIM:615934
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... OMIM:618986
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Congenital Rubella Syndrome
Atrial septal defect, Microphthalmia, Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impai... ORPHA:290
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly ORPHA:79084
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Immunodeficiency 104
Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Chronic mucocutaneous candidiasis, Eczemat... OMIM:608971
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Elevated circulating hepatic transaminase concentration, Spider hema... ORPHA:171
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Hearing impairment, Abn... ORPHA:858
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Increase... OMIM:619774
Erythema Elevatum Diutinum
Vasculitis in the skin, Skin rash, Increased circulating antibody level ORPHA:90000
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased me... ORPHA:231226
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Lymphangiectasia, Intestinal
Stillbirth, Intestinal lymphangiectasia, Neonatal hypoproteinemia, Decreased circulating IgG leve... OMIM:152800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, Crohn's di... OMIM:619705
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Leukopenia, Splen... OMIM:620210
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In... OMIM:618213
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... ORPHA:65682
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:301045
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Prostatitis, Cholangitis, Abnormal pancreas morphology, Lymphadenopathy... ORPHA:449432
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis OMIM:300918
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to... OMIM:613496
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Diamond-Blackfan Anemia
Developmental glaucoma, Normochromic anemia, Microtia, Macrocytic dyserythropoietic anemia, Abnor... ORPHA:124
Immunodeficiency 43
Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Hypoproteinemia, Decreased circu... OMIM:241600
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Microtia, High palate, Hearing impairment, Increased mean platelet volume,... OMIM:620475
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Distal renal tubular acidosis, Hypokalemia, Reticulocytosis, Nephrocalcinosis, Hepat... OMIM:611590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612926
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Astigmatism, Increased mean corpuscular volume, Optic nerve hypoplasia, Hig... ORPHA:261250
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Anemia, Hemolytic-... OMIM:612925
Lymphoproliferative Syndrome 2
Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,... OMIM:615122
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... OMIM:614493
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Ascites, Biliary cirrhosis, Splenomegaly, ... ORPHA:186
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Chylous Ascites
Pancreatitis, Ascites ORPHA:1160
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Vernal Keratoconjunctivitis
Corneal neovascularization, Keratoconjunctivitis, Punctate keratitis, Blepharitis, Conjunctival h... ORPHA:70476
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... ORPHA:139402
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia ORPHA:289916
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity... ORPHA:811
Simple Cryoglobulinemia
Congestive heart failure, Gastrointestinal hemorrhage, Monoclonal elevation of IgG, Chronic lymph... ORPHA:91139
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Panniculitis, Anemia, Lymphadenopathy, Increased circulating ... OMIM:617591
Lichen Planus Pemphigoides
Blepharitis, Conjunctivitis ORPHA:254478
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... OMIM:612924
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Leukopenia... ORPHA:27
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Homocystinuria, Increased mean corpuscular volume, Hyperhomocystinemia, M... OMIM:277410
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live... ORPHA:69663
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Elevated circulating h... ORPHA:540
Gallbladder Disease 1
Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co... OMIM:600803
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Pulmonic stenosis, Eosinophilic infiltration of the esophagus, H... OMIM:615508
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Hypohidrosis, Blepharitis, Sparse eyelashes, Sparse eyebrow OMIM:602400
Candidiasis, Familial, 8
Blepharitis, Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis OMIM:615527
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Skin ras... OMIM:603552
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Microcornea, Corneal opacity, Median cleft palate ORPHA:2432
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly, Abnormal small intest... ORPHA:100025
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Skin rash, Increased circulating IgE level, Eczematoid dermatitis, Eosinoph... ORPHA:2314
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dysplasia, Panc... OMIM:617052
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica... OMIM:604273
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Hemolytic-uremic syndrome, Hypospadias, Microtia, Glossoptosis, High pal... OMIM:611209
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the... OMIM:611926
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Blepharitis, Chemosis,... ORPHA:163934
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227990
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Upslanted palpebral fissure, Epicanthus ORPHA:3409
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant... OMIM:619846
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Circulating immune comple... ORPHA:91138
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Abnormality of thyroid physiology, Pancreatitis, Anemi... ORPHA:1830
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Castleman Disease
Intestinal obstruction, Abnormality of the gastrointestinal tract, Anemia, Hematuria, Jaundice, M... ORPHA:160
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Epicant... OMIM:614069
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio... ORPHA:83471
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi... ORPHA:227982
Ifap Syndrome 2
Posterior blepharitis, Keratoconjunctivitis sicca, Keratitis, Angular cheilitis OMIM:619016
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath... ORPHA:848
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc... OMIM:243150
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cardiomyopathy, Hypotension, Chol... ORPHA:292
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cholelithiasis, Proximal tubu... ORPHA:231222
Takenouchi-Kosaki Syndrome
Optic atrophy, Hypospadias, Unilateral renal agenesis, Sensorineural hearing impairment, Low-set ... OMIM:616737
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypothyroidism, Hashimoto thyroiditis, Ptosis, S... OMIM:613385
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Conjunctival icterus, Leuko... ORPHA:480520
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... ORPHA:2688
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Ascites, Increased circulating lactate dehydrogenase conc... ORPHA:99827
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating... OMIM:617099
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Clouston Syndrome
Sparse eyelashes, Blepharitis, Sparse eyebrow, Conjunctivitis OMIM:129500
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Red... OMIM:619381
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione... OMIM:618660
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Prolidase Deficiency
Diffuse telangiectasia, Hepatomegaly, Anemia, Increased circulating antibody level, Eczematoid de... OMIM:170100
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Reticular Dysgenesis
Chronic otitis media, Anemia, Skin rash, Decreased circulating antibody level, Leukopenia, Aplasi... ORPHA:33355
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hyperammonemia, Pancreatitis OMIM:620137
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Mahvash Disease
Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis OMIM:619290
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu... OMIM:607765
Cockayne Syndrome Type 1
Optic atrophy, Abnormality of peripheral nerve conduction, Hepatomegaly, Anemia, Anophthalmia, Ab... ORPHA:90321
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Pancreatitis, Hypertrophic cardiomy... ORPHA:2348
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j... OMIM:274150
Propionic Acidemia
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Propiony... OMIM:606054
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Majeed Syndrome
Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid... OMIM:609628
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha ... OMIM:615010
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Unilateral microphthalmos, Thrombocytopenia, S... OMIM:615085
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj... OMIM:194380
Marburg Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Br... ORPHA:99826
Igg4-Related Pachymeningitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Re... ORPHA:449427
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Skin rash, Hypertens... ORPHA:330015
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg... ORPHA:35078
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... ORPHA:470
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Recu... OMIM:301078
Brucellosis
Granuloma, Pericarditis, Hyperhidrosis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, ... ORPHA:1304
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Epicanthus, Elevated serum transaminases duri... OMIM:611182
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... OMIM:616576
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Hypotension, Leukocytosis, Pericarditis, Arrhythmia ORPHA:188
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Microscopic Polyangiitis
Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Vasculitis, Skin rash, Arthr... ORPHA:727
Orotic Aciduria
Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Periodontitis, Abnormal eyelash morpho... ORPHA:1775
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Kid Syndrome
Corneal neovascularization, Aplastic/hypoplastic lacrimal glands, Arthritis, Recurrent bacterial ... ORPHA:477
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Abnormal liver sonography, Elevated circul... ORPHA:90003
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Harderoporphyria
Increased fecal harderoporphyrin, Increased urine harderoporphyrin level, Hepatomegaly, Increased... OMIM:618892
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... OMIM:235400
17Q23.1Q23.2 Microdeletion Syndrome
Chronic otitis media, Highly arched eyebrow, Pulmonary arterial hypertension, Long eyelashes, Ble... ORPHA:261279
Avian Influenza
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Myelitis, Elev... ORPHA:454836
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari... OMIM:600501
Graft Versus Host Disease
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... ORPHA:39812
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Coccidioidomycosis
Skin rash, Cerebral ischemia, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Incre... ORPHA:228123
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Rift Valley Fever
Hematemesis, Jaundice, Anemia, Melena, Elevated circulating hepatic transaminase concentration, I... ORPHA:319251
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Retinal ... ORPHA:294
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension, Acute pancreatitis, Hepatomegaly OMIM:608600
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Panhypogammaglobulinemia, Ascites, T lym... ORPHA:79124
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno... OMIM:613313
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... OMIM:600802
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Decreased circulating antibody level, Epicant... OMIM:616910
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c... ORPHA:275
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... OMIM:618752
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Hypohomocystein... OMIM:617744
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration... OMIM:207750
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Splenomegaly, EEG abnormality, Hemolytic anemia OMIM:612126
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I... ORPHA:36234
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Cardiomyopathy, Hypera... OMIM:251000
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentra... ORPHA:79303
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Increased circulating interleukin 6 c... OMIM:614034
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Yellow Fever
Hematemesis, Bradycardia, Skin rash, Elevated circulating creatinine concentration, Jaundice, Inc... ORPHA:99829
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Bronchiec... ORPHA:60
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Epicanthus, Pneumo... OMIM:242860
Hereditary Chronic Pancreatitis
Jaundice, Elevated circulating C-reactive protein concentration, Abnormal circulating enzyme conc... ORPHA:676
Interstitial Lung Disease 2
Cirrhosis, Increased circulating antibody level, Pulmonary arterial hypertension OMIM:178500
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Sparse lateral eyebrow, Hepatitis ORPHA:363523
Acrodermatitis Enteropathica
Cheilitis, Abnormal eyelid morphology, Blepharitis, Pustule, Abnormal eyebrow morphology, Conjunc... ORPHA:37
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperurice... ORPHA:79083
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Abnormally low T cell receptor excision circle level,... OMIM:242700
Rat-Bite Fever
Morbilliform rash, Myocarditis, Abdominal aseptic abscess, Pancreatitis, Anemia, Arthritis, Skin ... ORPHA:31205
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated alkaline phosphatase of bone origin,... OMIM:616828
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ... ORPHA:85414
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Cach Syndrome
Optic neuritis, Nonketotic hyperglycinemia, Pancreatitis, Hepatosplenomegaly ORPHA:135
Hyperlipoproteinemia, Type Id
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa... OMIM:615947
Bernard-Soulier Syndrome
Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Macroscopic hematuria, Decreased plate... ORPHA:274
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... OMIM:127550
Sézary Syndrome
Ectropion, Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morp... ORPHA:3162
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Bilateral cleft palate, Sensorineur... ORPHA:1473
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Abnormalit... ORPHA:231214
Peripartum Cardiomyopathy
Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart murmur, Myocarditis, Elevate... ORPHA:563
Aicardi-Goutieres Syndrome 7
Hematemesis, Increased circulating antibody level, Skin rash, Hypertension, Chilblains, Hematoche... OMIM:615846
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... ORPHA:289390
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Tempi Syndrome
Increased circulating IgG level, Ascites, Polycythemia, Intracranial hemorrhage, Increased hemato... ORPHA:284227
Felty Syndrome
Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph... ORPHA:47612
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Sensorineural hearing impairment, Hypergalactosemia, Spleno... OMIM:230350
Gaucher Disease Type 1
Decreased HDL cholesterol concentration, Increased circulating antibody level, Ascites, Leukopeni... ORPHA:77259
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundic... OMIM:620376
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ... ORPHA:79277
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Ectropion, Increased circulating ferritin concentration, Elevated c... ORPHA:101330
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transamina... OMIM:232220
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastroesophageal reflux, Sensorineural hearing impairment, High palate, Facial palsy, Absent brai... OMIM:617519
Microsporidiosis
Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Nephritis, Pneumonia... ORPHA:2552
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Juvenile Xanthogranuloma
Iritis, Myeloproliferative disorder, Hyphema, Blepharitis, Uveitis ORPHA:158000
Postinfectious Vasculitis
Increased circulating antibody level, Abnormal circulating protein concentration, Hypertension, C... ORPHA:48435
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Melioidosis
Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit... ORPHA:31202
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transa... OMIM:214950
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc... ORPHA:448237
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,... OMIM:620010
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Downslanted palpebral fissures, Decreased circulating IgG level,... ORPHA:2643
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Bilateral sensorineural hearing impairment, Increased HbA2 hemoglobin, Decreased mea... OMIM:616943
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Congestive heart failure, Abnormal circulating interferon-gamma conc... ORPHA:391487
Immunodeficiency 66
Recurrent skin infections, Pustule, Defective T cell proliferation OMIM:618847
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Iga Pemphigus
Neutrophilic infiltration of the skin, Increased circulating IgA level, Monoclonal elevation of c... ORPHA:555905
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Incr... ORPHA:508533
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyper... OMIM:214900
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Hypospadias, Unilateral renal agenesis, Low-set, posteriorly rotated ears, Abnorma... ORPHA:487796
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Paroxysmal Nocturnal Hemoglobinuria
Conjunctival icterus, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Unc... ORPHA:447
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit... ORPHA:3260
Hyper-Igd Syndrome
Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Increased circulating IgA level,... OMIM:260920
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Jaundice, Anemia, Abnormal liver parenchyma morpholog... ORPHA:64743
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:300861
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased circulating ant... OMIM:619750
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple... OMIM:269200
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Angina pectori... ORPHA:565612
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Increased blood pressure, Elevated circulating hepatic transaminase concent... OMIM:619487
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ... OMIM:614817
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Splenomegaly, Decreased circulating antibody level, Leuk... OMIM:618042
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Hypothyroidism, Pustule, Hyperthyroidism ORPHA:48377
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Sensorineural hearing impairment, Impaired platelet aggregation, Thrombocy... OMIM:124900
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria ORPHA:79238
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Increased circulating antibody level, Elevated... ORPHA:400
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased ci... OMIM:601495
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Ventricular septal def... OMIM:613730
Roifman Syndrome
Recurrent otitis media, Lymphadenopathy, Noncompaction cardiomyopathy, Decreased circulating anti... ORPHA:353298
Immunodeficiency 9
Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Hypoplasia of the ... OMIM:612782
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria, Hearing impairment, Cleft palate, Cataract, Iris coloboma OMIM:120433
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Protein... ORPHA:251004
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Recurrent otitis media, Decreased circulat... OMIM:615577
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Intrahepatic cholestasis, Cardiomegaly, Hepatomegaly, Increased hepatic g... OMIM:614921
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota... ORPHA:98848
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Decreased circulating carnitine concentration, Decreased activity of NADPH oxidase,... ORPHA:431361
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Hypocalcemia, Thyroiditis, Abnormality of the ocular adnexa, Thyrotoxicos... ORPHA:64744
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Thyroiditis, Neutropenia in presence of anti-neutropil anti... ORPHA:228426
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... OMIM:256040
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Acute colitis, Hypertension, Leukocytosis, Dysfunctional alternative c... ORPHA:90038
Congenital Syphilis
Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Synovitis, Prolonged neonatal jaundice, Rhini... ORPHA:499009
Down Syndrome
Abnormality of the lymphatic system, Blepharitis, Polycythemia, Neutrophilia, Acute megakaryocyti... ORPHA:870
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi... OMIM:619375
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyperkalemia, Pancreatitis, Increased circulating interleukin 6 concentration, Acute... ORPHA:544482
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormal circulating cytokine concentration, Myocardial infarction, Angina pectoris,... ORPHA:464343
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia, High palate ORPHA:2528
Immunodeficiency 47
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:300972
Trichinellosis
Skin rash, Increased circulating IgE level, Retinal hemorrhage, Conjunctival hyperemia, Conjuncti... ORPHA:863
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Absent eyelashes, Lacrimal duct atresia, Anhidrosis, Blepharitis, Sparse eyelashes, Conjunctiviti... OMIM:106260
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma OMIM:604219
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Cataract, Macular atrophy, Optic disc pallor OMIM:616171
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Vasculitis, Skin rash, Arthritis, Ascites, Leukocytosis, Pericardi... ORPHA:342
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Cataract, Elevated transferrin saturation, Incre... OMIM:606069
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic tr... ORPHA:26791
Hepatoerythropoietic Porphyria
Ectropion, Loss of eyelashes, Abnormal circulating enzyme concentration or activity, Keratoconjun... ORPHA:95159
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ... OMIM:615952
Scrub Typhus
Myocarditis, Lymphadenopathy, Skin rash, Hypotension, Hyperhidrosis, Splenomegaly, Anterior uveit... ORPHA:83317
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Elevated circulat... OMIM:614576
Congenital Isolated Acth Deficiency
Hypotension, Prolonged neonatal jaundice, Hyponatremia, Decreased circulating cortisol level, Adr... ORPHA:199296
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Elevated circulating L-alloisoleuci... OMIM:248600
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased circulating antibody level OMIM:615872
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Cardiomyopathy, Hearing impairment, Iris hypopigmentation, Thrombocy... ORPHA:67048
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Pannicul... ORPHA:79086
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Increased circulating interleukin 8 concentrat... OMIM:620514
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentra... OMIM:611762
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:435651
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Horizontal eyebrow, Blepharitis, Pustule, Left ventricular h... ORPHA:294023
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Vascul... ORPHA:343
Eec Syndrome
Decreased response to growth hormone stimulation test, Entropion, Anterior hypopituitarism, Infla... ORPHA:1896
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Behçet Disease
Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Aorti... ORPHA:117
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,... OMIM:616433
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture, Volvulus, Developmental cataract, Right ventricular hypertrophy,... ORPHA:335
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol... ORPHA:529799
Stromme Syndrome
Microphthalmia, Iris coloboma, Peters anomaly, Accessory spleen, Optic nerve hypoplasia, Microcor... OMIM:243605
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Myeloma, Multiple
Paraproteinemia OMIM:254500
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract OMIM:610623
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Cholestasis, Decreased circulating antibody level ORPHA:1296
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Pure red cell aplasia, Primary adrenal ins... ORPHA:589
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia, Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis OMIM:145001
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod... ORPHA:169105
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Skin rash, Cardiomyopathy, ... ORPHA:3386
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Heart block, Increased circulating interleukin 6 con... ORPHA:542323
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Pancytopenia, Pterygium, Sparse eyelashes, Blepharitis... OMIM:305000
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal lymph node morphology, Lymphadeno... ORPHA:911
Leukonychia Totalis
Blepharitis, Abnormal eyelash morphology ORPHA:2387
Alpha-1-Antitrypsin Deficiency
Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly, Reduced circulating alpha-1-ant... OMIM:613490
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepati... OMIM:610377
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Abnormal heart valve morphology, Abnormality of... ORPHA:93476
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia OMIM:238970
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hyperhomocystinemia, Reduced cystathionine beta-synthase activity in cultured fibro... OMIM:236200
Peripheral Primitive Neuroectodermal Tumor
Pelvic mass, Neoplasm of the pancreas, Pancreatitis, Jaundice, Anemia, Ascites, Increased circula... ORPHA:370348
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L... OMIM:152700
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Kawasaki Disease
Myocarditis, Congestive heart failure, Cheilitis, Jaundice, Cervical lymphadenopathy, Elevated ci... ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Facial palsy, Cardiomyopathy, Elevated circulating creatine kinase concentration,... OMIM:613155
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia... OMIM:617303
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, L... ORPHA:809
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epith... OMIM:611040
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration... ORPHA:444490
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia OMIM:616873
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Hyperlipoproteinemia, Type I
Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ... OMIM:238600
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
Braddock-Carey Syndrome 2
Microphthalmia, Hearing impairment, Atresia of the external auditory canal, Cleft palate, Thrombo... OMIM:619981
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation ORPHA:1574
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg... OMIM:278000
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Palpebral edema, Abnormal lacrimal duct morphology, Keratoconjunctiviti... ORPHA:79078
Sweet Syndrome
Small vessel vasculitis, Panniculitis, Acute myeloid leukemia, Anemia, Chronic lymphatic leukemia... ORPHA:3243
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Nephrotic syndrome, Splenomegaly, Con... OMIM:269920
Dopamine Beta-Hydroxylase Deficiency
Anemia, Orthostatic hypotension, Elevated urinary dopamine level, Increased blood urea nitrogen, ... ORPHA:230
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
2Q24 Microdeletion Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Abnormality iris morphology, Cleft palate, Cat... ORPHA:1617
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Arthritis, Cardiomyopathy, Increased circulati... OMIM:602390
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly ORPHA:1046
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Hypertension, Paraproteinemia, Membranoprolife... ORPHA:329918
Mirizzi Syndrome
Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ... ORPHA:521219
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Normocytic anemia, Renal tubular epithelial necrosis, Hematuria, Elevated ci... ORPHA:49041
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Bone marrow hypocellularity, Hyp... ORPHA:562
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla... OMIM:610199
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Galactosuria, Increase... OMIM:230400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Hypertension, Chronic... ORPHA:79259
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Furrowed tongue, Hamartomatous polypo... ORPHA:2930
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Cofs Syndrome
Optic atrophy, Microphthalmia, Sensorineural hearing impairment, Abnormality of retinal pigmentat... ORPHA:1466
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Myocardial infarction, Mediastinal lymphadenopathy, Hep... ORPHA:3452
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Microphthalmia, Low-set ears, Dysphagia, Cataract, Microcytic anemia OMIM:612379
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transamina... OMIM:232200
Cat-Eye Syndrome
Microphthalmia, Anal atresia, Hearing impairment, Hydronephrosis, Iris coloboma ORPHA:195
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
46,Xy Sex Reversal 4
Recurrent otitis media, Sensorineural hearing impairment, Microtia, High palate, Anal atresia, In... OMIM:154230
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia, Colitis OMIM:615190
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat... ORPHA:209902
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, S... ORPHA:2298
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Lymphadenopathy, Conjunctivitis OMIM:617772
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Pancreatitis, Iridocyclitis ORPHA:412057
Granulomatosis With Polyangiitis
Chronic otitis media, Gastrointestinal hemorrhage, Prostatitis, Pancreatitis, Elevated circulatin... ORPHA:900
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Sensorineural hearing impairment, Increased serum pyruvate, Hyperalaninemia, C... OMIM:619046
Common Variable Immunodeficiency
Chronic otitis media, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, V... ORPHA:1572
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperch... ORPHA:412
Lassa Fever
Jaundice, Increased circulating IgM level, Shock, Conjunctivitis ORPHA:99824
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercho... ORPHA:75234
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Sensorineural hearing impairment, Megaloblastic anemia, Neurogenic bl... OMIM:222300
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria, Hepatomegaly ORPHA:882
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Splenomegaly, Hyperammonemia ORPHA:664
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Chronic hepatitis, Decreased circulating iron concentration, Colitis OMIM:614602
Xeroderma Pigmentosum
Ectropion, Entropion, Pterygium, Conjunctival telangiectasia, Blepharitis, Keratitis, Telangiecta... ORPHA:910
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Meckel diverticulum, Low-set ears, Pyloric stenosis, Hearing impairment, Abdomina... OMIM:616395
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ... OMIM:619658
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegal... OMIM:611490
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep... OMIM:613404
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Low-set ears OMIM:616570
Immunoglobulin Kappa Light Chain Deficiency
Absent circulating immunoglobulin kappa chain OMIM:614102
Adult-Onset Nemaline Myopathy
Mildly elevated creatine kinase, Dilated cardiomyopathy, Paraproteinemia ORPHA:171442
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Pancreatitis, Anemia, Elevated circulating hepatic transaminase conc... ORPHA:36426
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:613070
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly, Abnormality of thrombocytes ORPHA:172
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Synophrys, Blepharitis, Recurrent aspiration pneumonia, Right ve... ORPHA:280633
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m... OMIM:240300
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi... ORPHA:85435
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Vasculitis in the skin, Abnormal circulating interleukin... ORPHA:319552
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration, Microphthalmia OMIM:251700
Lichen Planopilaris
Hepatitis, Pterygium ORPHA:525
Cat Eye Syndrome
Microphthalmia, Biliary atresia, Meckel diverticulum, Intestinal malrotation, Pulmonic stenosis, ... OMIM:115470
Atelis Syndrome 1
Anemia, Microtia, High palate, Thrombocytopenia, Leukopenia, Cataract, Atrial septal defect, Vent... OMIM:620184
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Absent brainstem auditory responses, Thrombocytopenia, Vestibular ... ORPHA:3240
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuri... ORPHA:20
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertriglyceridemia, Hepatomegal... ORPHA:280365
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Hypoplastic left atrium, Intestinal malrotation, Cleft palate, Vent... OMIM:615524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Retinal detachment, Corneal opacity, Elevated circulating creatine kinase concent... OMIM:613153
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocytopenia, Recu... OMIM:150550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin... OMIM:208085
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... OMIM:616622
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Hypertension, Bone marrow hyp... OMIM:615688
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Limb-Mammary Syndrome
Chronic irritative conjunctivitis, Lacrimal duct atresia, Hypohidrosis, Blepharitis, Absent lacri... ORPHA:69085
Fanconi Anemia, Complementation Group F
Microphthalmia, Anemia, Pelvic kidney, Microtia, Vesicoureteral reflux, Microphallus, Renal hypop... OMIM:603467
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase concentrat... ORPHA:297
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Bone marro... OMIM:301108
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Cholestasis, Portal hypertensio... ORPHA:440713
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Orthostatic hypotension, Gastroesophageal reflux, Glomerular sclerosi... OMIM:223900
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Sensorineural hearing impairment, C... OMIM:256550
Fanconi Anemia, Complementation Group R
Microphthalmia, Anemia, Pelvic kidney, Anal atresia, Bone marrow hypocellularity OMIM:617244
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis, Conjun... OMIM:120100
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop... OMIM:603553
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Shigellosis
Myocarditis, Abnormal blood ion concentration, Acute colitis, Arthritis, Splenic abscess, Cholest... ORPHA:810
Intrahepatic Cholestasis Of Pregnancy
Jaundice, Elevated circulating hepatic transaminase concentration, Increased serum bile acid conc... ORPHA:69665
Gaucher Disease
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:355
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Urinary bladder sphincter ... ORPHA:320401
Loeffler Endocarditis
Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b... ORPHA:75566
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f... 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
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Pancreatitis, Primary hypercortisolism, Increased circulating cortisol level OMIM:610475
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemi... OMIM:222700
Refsum Disease
Microphthalmia, Sensorineural hearing impairment, Cardiomyopathy, Abnormality of retinal pigmenta... ORPHA:773
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Sen... ORPHA:1451
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Hypocalcemia, Ascites, Ankyloglossia, Asplenia, Hypoplastic spleen, Mic... OMIM:602361
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Decreased circulating antibody level, Hypoproteinemia, Lymphopenia ORPHA:1116
Moebius Syndrome
Blepharitis, Ptosis, Epicanthus ORPHA:570
Seckel Syndrome 10
Hypertriglyceridemia, Congestive heart failure, Hypertension, Acute pancreatitis, Elevated circul... OMIM:617253
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Low-set ears, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Pancreatitis, Anemia, Elevated circulating hepatic transaminase conc... ORPHA:537
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Renal insufficiency, Hemolyti... ORPHA:108
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating antibody level, Reduced circulating transferrin concentration, D... ORPHA:90363
Bresek Syndrome
Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia, Vesicoureteral reflux, Low-set ear... ORPHA:85284
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegaly ORPHA:75233
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Ectropion, Hepatomegaly, Recurrent otitis media, Increased serum bile a... OMIM:618268
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proportion of class-switched me... OMIM:233600
Alveolar Echinococcosis
Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Increased circulating ant... ORPHA:284
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Recurrent otitis media, Microphthalmia, Unilateral renal agenesis, Gastroeso... OMIM:618494
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocy... OMIM:619463
Relapsing Polychondritis
Myocarditis, Large vessel vasculitis, Recurrent aphthous stomatitis, Inflammatory abnormality of ... ORPHA:728
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic syst... ORPHA:1414
Dermotrichic Syndrome
Aganglionic megacolon, Anemia, Macrotia, EEG abnormality, Aminoaciduria ORPHA:99688
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve... OMIM:613470
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Myositis, Skin rash, Elevated circulating creatine kinase ... ORPHA:206569
Macrocephaly/Autism Syndrome
Hepatomegaly, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Epicant... OMIM:605309
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Pancytopenia,... ORPHA:1855
Fanconi Anemia, Complementation Group I
Microphthalmia, Astigmatism, Optic nerve hypoplasia, Patent foramen ovale, Vesicoureteral reflux,... OMIM:609053
Antisynthetase Syndrome
Myocarditis, Aortic regurgitation, Myositis, Arthritis, Skin rash, Xerostomia, Elevated circulati... ORPHA:81
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Hyperuricemia,... ORPHA:199299
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Microphthalmia, Esophageal varix, Ascites, Portal hyperte... ORPHA:974
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase ... OMIM:615181
Lissencephaly 8
Optic atrophy, Microphthalmia, Elevated circulating creatine kinase concentration, Cataract OMIM:617255
Yao Syndrome
Arthritis, Skin rash, Xerostomia, Pericarditis, Inflammatory abnormality of the skin, Keratoconju... OMIM:617321
Mogs-Cdg
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, High palate, Absent brainstem audi... ORPHA:79330
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor OMIM:251270
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism OMIM:145981
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Gastroesophageal reflux, Ventricular septal defect, Persistence of hemoglobin F, Atr... OMIM:619769
Trisomy 13
Optic atrophy, Atrial septal defect, High, narrow palate, Microphthalmia, Anophthalmia, Abnormal ... ORPHA:3378
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Muckle-Wells Syndrome
Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Leukocytosi... OMIM:191900
Leptospirosis
Hyperproteinemia, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Hypotension... ORPHA:509
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural ... ORPHA:158048
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Hearing impairment, Peters anomaly, Iris colo... OMIM:610023
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Abnormal eyelid morphology, Abnormal nasolacrimal system morphology, Abnormal eyelash ... ORPHA:2273
Hypocalciuric Hypercalcemia, Familial, Type I
Hypercalcemia, Hypermagnesemia, Pancreatitis, Hyperparathyroidism OMIM:145980
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Iris hyp... ORPHA:79477
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Prolonged QT interval, Anemia, Hepatomegaly, Pancytopenia, Malar ra... ORPHA:398124
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Myositis, Vasculitis, Ski... ORPHA:32960
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Skin rash, Chronic mucocutaneous candidiasis, Increased circulating IgE... OMIM:147060
Caffey Disease
Increased circulating antibody level ORPHA:1310
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepati... OMIM:616589
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, De... OMIM:226300
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina... OMIM:610717
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Almond-sha... OMIM:212065
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Prolonged QT interval, Increased circulating IgE level, Cardiomyopathy, Downslanted... ORPHA:373
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Panniculitis, Anemia, Increased circulating interleukin 6 concentration,... OMIM:608068
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia, Exudative retinal detachment ORPHA:209956
Galactokinase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Increased level of galactitol in plasma, Hypergal... ORPHA:79237
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Myocardial infarction, Myositis, Vasculitis, Skin rash, Hy... ORPHA:183
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reac... ORPHA:319213
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Biliary tract abnormality, Spleno... ORPHA:79301
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ... ORPHA:85410
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure ORPHA:2724
Warburg Micro Syndrome 1
Optic atrophy, Microphthalmia, Microcornea, Low-set ears, Macrotia, Developmental cataract OMIM:600118
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology OMIM:602248
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, High palate, Abnormal auditory evoked potentials, Abnormality of visual evoked poten... OMIM:617523
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ... OMIM:612840
Portal Hypertension, Noncirrhotic, 1
Esophageal varix, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Walker-Warburg Syndrome
Optic atrophy, Protruding ear, Microphthalmia, Retinal dysplasia, Hypoplasia of penis, Retinal de... ORPHA:899
Tangier Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin... OMIM:205400
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa... ORPHA:732
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Low-set ears, Pericar... OMIM:613885
Hereditary Renal Hypouricemia
Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Uric acid urolithiasis inde... ORPHA:94088
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M... ORPHA:3226
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade... OMIM:615895
Oculofaciocardiodental Syndrome
Microphthalmia, Retinal detachment, Abnormal cardiac septum morphology, Microcornea, Sensorineura... ORPHA:2712
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Microphthalmia, Ventricular septal defect, Leukemia OMIM:602501
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Dermatitis, Atopic
Atopic dermatitis, Eczematoid dermatitis, Conjunctivitis, Recurrent skin infections, Allergic rhi... OMIM:603165
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Retinal dysplasia ORPHA:324416
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgG, Palpebral edema, Decreased lymphocyte ... ORPHA:221139
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Papillorenal Syndrome
Microphthalmia, Sensorineural hearing impairment, Elevated circulating creatinine concentration, ... OMIM:120330
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Elevate... ORPHA:457077
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, ... ORPHA:2538
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Aganglionic megacolon, Pulmonary valve atresia, Atrioven... ORPHA:210122
Peroxisome Biogenesis Disorder 11B
Cataract, Hearing impairment, Hepatosplenomegaly OMIM:614885
Pierpont Syndrome
Microphthalmia, Microcornea, Hearing impairment, Posteriorly rotated ears, Large fleshy ears, Mic... OMIM:602342
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, Abnormal circulating calcium concentration, Conjunctivitis OMIM:610455
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Kikuchi-Fujimoto Disease
Palpebral edema, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin ras... ORPHA:50918
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... OMIM:275350
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Arthritis, Pericarditis OMIM:609939
Listeriosis
Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Jaundice, Splenic abscess, Con... ORPHA:533
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac... OMIM:603585
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:615297
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Sensorineural hearing impairment, Patent foramen ovale, Ventricular septal defect... OMIM:618652
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop... ORPHA:90045
Atelis Syndrome 2
Microphthalmia, Anemia, Gastroesophageal reflux, High palate, Low-set ears, Remnants of the hyalo... OMIM:620185
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatitis, Pancreatic calcification OMIM:167800
Orthostatic Hypotension 1
Orthostatic hypotension, High palate, Increased blood urea nitrogen, Hypomagnesemia, Nocturia, El... OMIM:223360
Pierpont Syndrome
Microphthalmia, Microcornea, Hearing impairment, Macrotia, Uplifted earlobe, Posteriorly rotated ... ORPHA:487825
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Conjunctival telangiectasia, Acute lympho... OMIM:208900
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morph... ORPHA:370959
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen... OMIM:612526
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Gastroesophageal reflux, Low-set, poster... ORPHA:494344
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... ORPHA:3318
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Abno... OMIM:600901
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Biliary cirrhosis, Recurrent pneumonia, Hepatosplenomegaly... OMIM:219700
Mucopolysaccharidosis Type 7
Splenomegaly, Hepatitis, Ascites ORPHA:584
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Anal atresia, Microphthalmia ORPHA:3469
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act... OMIM:611881
Pseudo-Torch Syndrome 1
Jaundice, Hepatomegaly, Patent foramen ovale, High palate, Low-set ears, Thrombocytopenia, Spleno... OMIM:251290
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Enlarged kidney, Anemia, Telecanthus, Tricuspid regurgitation, Pulmonar... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Il
Atrial septal defect, Hepatomegaly, Polycystic kidney dysplasia, Low-set ears, Ascites, Pericardi... OMIM:608776
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Microphthalmia, Abnormality of peripheral nerve conduction ORPHA:48431
Scorpion Envenomation
Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Hypokalemia... ORPHA:466677
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, ... OMIM:249100
Alpha-Mannosidosis, Adult Form
Mixed hearing impairment, Pancytopenia, Corneal opacity, Cataract, Hepatosplenomegaly, Recurrent ... ORPHA:309288
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Congenital Disorder Of Glycosylation, Type Iib
Short palpebral fissure, Hepatomegaly, Decreased circulating antibody level, Long eyelashes, Redu... OMIM:606056
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Pancreatitis, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia OMIM:600740
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Anemia, Hypokalemia, Glossitis, Hypocalcemia, Hamartomatous polyposis... OMIM:175500
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Arth... ORPHA:36412
Glycogen Storage Disease Ixb
Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Hypertension, Cardiomyopathy, Pericarditis... ORPHA:767
Glycogen Storage Disease Ic
Xanthelasma, Hepatomegaly, Chronic pancreatitis, Hyperuricemia, Stomatitis, Spider hemangioma, Hy... OMIM:232240
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Cardiomegaly, Telecanthus, Splenic cyst, Highly arched eyebrow, Tricuspid regurgita... OMIM:620371
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Hypocalcemic seizures, Decreased circulating IgG level, Recurrent pneumonia... OMIM:612301
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Anteverted ears, Iris coloboma OMIM:300915
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie... OMIM:301074
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma OMIM:611638
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Microphthalmia, Beta-alaninuria, H... OMIM:614105
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy OMIM:105200
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Fetal Gaucher Disease
Hepatomegaly, Low-set, posteriorly rotated ears, Pancytopenia, High palate, Thrombocytopenia, Abn... ORPHA:85212
Mosaic Trisomy 9
Microphthalmia, Abnormal liver lobulation, Dextrocardia, Hypoplasia of penis, Abnormal heart valv... ORPHA:99776
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ... OMIM:300291
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Decreased response to growth hormone stimulation test, Sparse eyelashes, Blepharitis, Sparse eyeb... OMIM:604292
Thymoma
Aplastic anemia, Myositis, Abnormal lymphocyte physiology, Abnormal lymphocyte proliferation, Dec... ORPHA:99867
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Abno... OMIM:227650
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ... OMIM:187900
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... OMIM:277900
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Vasculitis, Skin rash, Arthritis, Episclerit... ORPHA:575
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... ORPHA:103918
Kapur-Toriello Syndrome
Microphthalmia, Hypoplasia of penis, Low-set ears, Retinal coloboma, Intestinal malrotation, Atre... ORPHA:2328
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Erysipelas, Conjunctival hyperemi... OMIM:142680
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Hypsarrhythmia, Dysphagia, Micropenis, EEG with burst suppression OMIM:308350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Decreased response to growth hormone stimulation test, Telecanthus, Sparse eyelashes, Blepharitis... OMIM:129900
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Bone marrow hypocellularity, Micropenis, Neutropenia OMIM:620501
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Increased circulating antibody level, Increase... ORPHA:85443
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, R... ORPHA:264580
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Scleritis, Pancreatitis, Arteritis, Crescentic glomerulonephritis, Eleva... ORPHA:93126
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Esophageal atresia, Pancytopenia, Pelvi... OMIM:227646
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Low-se... OMIM:606003
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Low-set, posteriorly rotated ears, Hypospadias, Aplasia/Hypoplasia of the earlobe... ORPHA:98791
Cockayne Syndrome Type 3
Microphthalmia, Retinal atrophy, Cardiomyopathy, Splenomegaly, Adult onset sensorineural hearing ... ORPHA:90324
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Abnormal antihelix morphology... ORPHA:85194
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Elevated circulating creatine kinase con... OMIM:300842
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Rheumatic Fever
Myocarditis, Arthritis, Sinusitis, Pericarditis, Epistaxis, Arrhythmia, Endocarditis ORPHA:3099
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Increased circulating antibody level, Aortic regurgitation OMIM:114065
Sickle Cell Disease
Jaundice, Hematuria, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Constrictive pericarditis OMIM:208250
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Anemia, Elevated circulating hepatic trans... ORPHA:67
Kapur-Toriello Syndrome
Microphthalmia, Low-set ears, Retinal coloboma, Intestinal malrotation, Conductive hearing impair... OMIM:244300
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypokalemia, Hypocalcemia, Hypotension, Hypovolemia, Leuko... ORPHA:31824
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Hypoplasia of penis, Microtia, Duodenal stenosis ORPHA:2547
Tyrosinemia, Type I
Enlarged kidney, Gastrointestinal hemorrhage, Hypertyrosinemia, Ascites, Nephrocalcinosis, Spleno... OMIM:276700
Epilepsy-Telangiectasia Syndrome
Conjunctival telangiectasia, Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia, Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilled... OMIM:127000
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,... OMIM:233710
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Esophageal atresia, Hypospadias, Hypoplasia of penis, Anophthalmia, Tracheoesopha... ORPHA:77298
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatomegaly, Abnormally large globe, Hypocalcemia, Pancreatic lympha... ORPHA:1655
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Peroxisome Biogenesis Disorder 2A (Zellweger)
Optic nerve dysplasia, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary ... OMIM:214110
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Decreased nerve conduction vel... OMIM:214500
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Protruding ear, Astigmatism, Microphthalmia, Myopic astigmatism, Retinal detachmen... OMIM:152950
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, He... OMIM:618440
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal... ORPHA:91495
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Per... OMIM:260400
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome... ORPHA:79292
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin ORPHA:90037
Ring Chromosome 10 Syndrome
Microphthalmia, Aganglionic megacolon, Hypocalcemia, Abnormal antihelix morphology, Low-set ears,... ORPHA:1438
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Recurrent otitis media, Hepatomegaly, P... OMIM:608233
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Cockayne Syndrome B
Optic atrophy, Microphthalmia, Hepatomegaly, Decreased nerve conduction velocity, Renal insuffici... OMIM:133540
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cataract, Stom... OMIM:608885
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Splenomegaly,... OMIM:615387
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Ventricular hypertrophy, Tetralogy of Fallot, Posteriorly rotated ears, Atrial se... OMIM:300887
Juvenile Sialidosis Type 2
Optic atrophy, Hepatomegaly, Visceromegaly, Corneal opacity, Low-set ears, Protruding tongue, Hea... ORPHA:93399
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibo... OMIM:181000
Bloom Syndrome
Cheilitis, Decreased circulating total IgM, Acute myeloid leukemia, Recurrent tonsillitis, Abnorm... ORPHA:125
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, High palate, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria OMIM:619053
Pearson Syndrome
Steatorrhea, Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphol... ORPHA:699
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Macrotia, Microphthalmia, Astigmatism OMIM:619694
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hearing impairment, Bone... OMIM:227645
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,... OMIM:233690
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Facial palsy, Hearing impairment... OMIM:259700
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Vici Syndrome
Congestive heart failure, Chronic mucocutaneous candidiasis, Cardiomyopathy, Lymphopenia, Cutaneo... OMIM:242840
Multiple Sulfatase Deficiency
Optic atrophy, Hepatomegaly, Sensorineural hearing impairment, Corneal opacity, Mucopolysaccharid... ORPHA:585
Frontonasal Dysplasia 1
Microphthalmia, Low-set ears, Median cleft palate, Conductive hearing impairment, Tetralogy of Fa... OMIM:136760
Mednik Syndrome
Cirrhosis, Increased circulating very long-chain fatty acid concentration, Sensorineural hearing ... OMIM:609313
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Increased circulating... OMIM:235200
Chronic Mucocutaneous Candidiasis
Cheilitis, Hepatitis, Skin rash ORPHA:1334
Meckel Syndrome
Microphthalmia, Ureteral duplication, Pancreatic fibrosis, Optic atrophy, Low-set, posteriorly ro... ORPHA:564
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Pulm... ORPHA:2905
Riddle Syndrome
Decreased circulating total IgM, Arthritis, Decreased circulating IgA level, Conjunctival telangi... ORPHA:420741
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe, Sensorineural hearing impairment, Elevated circulating cr... OMIM:615249
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia, Und... OMIM:618804
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,... OMIM:208540
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Microphthalmia, Ventricular septal defect, Low-set ears ORPHA:93267
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, High palate,... OMIM:235255
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Microphthalmia, Anemia, Accessory spleen, Patent foramen ovale, Microtia, L... OMIM:620005
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Anemia OMIM:617883
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia, Simple ear, Bicuspid aortic va... OMIM:619318
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Sensorineural hearing impairment, Pulmonic stenosis, Leukopenia, Splenomegaly, ... OMIM:612541
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Chronic pancreatitis, Elevated circ... ORPHA:98908
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Micro Syndrome
Optic atrophy, Microphthalmia, Low-set, posteriorly rotated ears, Hypoplasia of penis, Microcorne... ORPHA:2510
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Gastroesophageal reflux, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Iris coloboma, Hypospadias, Histiocytoid cardiomyopathy, Ventricular septal defec... OMIM:309801
Fanconi Anemia, Complementation Group L
Microphthalmia, Anemia, Unilateral renal agenesis, Esophageal atresia, Microtia, Low-set ears, Tr... OMIM:614083
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Aganglionic megacolon, Anemia, Gastroesophageal reflux, Hypoplasia of penis, Senso... ORPHA:847
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:235555
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Rieger anomaly, Sensorineural hearing impairment, Abnormal... OMIM:109120
Congenital Sialidosis Type 2
Optic atrophy, Hepatomegaly, Corneal opacity, Ascites, Low-set ears, Protruding tongue, Hearing i... ORPHA:93400
Duane-Radial Ray Syndrome
Microphthalmia, Aganglionic megacolon, Anal stenosis, Optic disc hypoplasia, Sensorineural hearin... OMIM:607323
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypo... OMIM:259720
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Coach Syndrome 1
Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology... OMIM:216360
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Microphthalmia, Low-set, posteriorly rotated ears, Memb... ORPHA:3191
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic tran... ORPHA:131
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Fanconi Anemia, Complementation Group N
Aplastic anemia, Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemi... OMIM:610832
Congenital Gerbode Defect
Congestive heart failure, Elevated right atrial pressure, Bacterial endocarditis, Elevated jugula... ORPHA:99095
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:415
22Q11.2 Deletion Syndrome
Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, An... ORPHA:567
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Myotonic Dystrophy 2
Decreased circulating total IgM, Right bundle branch block, Elevated circulating creatine kinase ... OMIM:602668
Joubert Syndrome 37
Microphthalmia, Hepatomegaly, High palate, Low-set ears, Hydronephrosis, Posteriorly rotated ears... OMIM:619185
Cockayne Syndrome A
Optic atrophy, Hepatomegaly, Decreased nerve conduction velocity, Renal insufficiency, Sensorineu... OMIM:216400
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Absent... ORPHA:436252
Alstrom Syndrome
Hypertriglyceridemia, Congestive heart failure, Decreased response to growth hormone stimulation ... OMIM:203800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Sp... ORPHA:169090
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Hearing impairment, Developmental cataract, Cataract, Micropenis OMIM:610756
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Bardet-Biedl Syndrome 20
Elevated circulating hepatic transaminase concentration, Hypercholesterolemia, Pancreatitis OMIM:619471
Scedosporiosis
Sinusitis, Pericarditis, Arthralgia/arthritis, Septic arthritis, Pneumonia, Endocarditis, Osteomy... ORPHA:449280
Acute Generalized Exanthematous Pustulosis
Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis,... ORPHA:293173
Hereditary Orotic Aciduria
Downslanted palpebral fissures, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Triploidy
Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Low-set, posteriorly rotated ears, Hyp... ORPHA:3376
Fryns Syndrome
Microphthalmia, Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Low-set, posteriorly... ORPHA:2059
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Icf Syndrome
Anemia, Decreased circulating antibody level, Epicanthus, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Cirrhosis, Familial
Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Hypertens... OMIM:215600
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia, Retinal dysplasia OMIM:615665
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Ectropion, Recurrent otitis media, Synophrys, Long palpebral fissure, Downslanted palpebral fissu... OMIM:602562
Hardikar Syndrome
Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation, Cholestasis, Intestinal m... OMIM:301068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Warburg Micro Syndrome 3
Optic atrophy, Narrow palate, Microphthalmia, Microcornea, Macrotia, Shallow anterior chamber, De... OMIM:614222
Congenital Analbuminemia
Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Low pulse... ORPHA:86816
Craniotelencephalic Dysplasia
Optic atrophy, Microphthalmia, Low-set, posteriorly rotated ears, Septo-optic dysplasia ORPHA:1528
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Partial absence of specific antibody res... ORPHA:79324
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Decreased circulating cerulop... OMIM:242150
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Calcinosis, Gastroesophageal reflux, Hypokalemia, Hypocalcemia, Renal artery steno... OMIM:617913
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg... OMIM:616217
Autosomal Dominant Keratitis
Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Whim Syndrome
Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal ne... ORPHA:51636
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Abnormal lymphocyt... ORPHA:293978
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Sensorineural ... OMIM:310600
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Knee osteoarthritis, Ascites, Pericarditis, Mitral regurgitation ORPHA:2848
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Sensorineural hearing impairment, Cardiomyopath... OMIM:616084
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Melas
Wolff-Parkinson-White syndrome, Anemia, Hypoparathyroidism, Concentric hypertrophic cardiomyopath... ORPHA:550
Cornelia De Lange Syndrome
Curly eyelashes, Highly arched eyebrow, Synophrys, Long eyelashes, Blepharitis, Ptosis, Thick eye... ORPHA:199
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:608594
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... ORPHA:94059
Nance-Horan Syndrome
Microphthalmia, Retinal detachment, Microcornea, Cataract, Protruding ear ORPHA:627
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:269700
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia... OMIM:151660
Fraser Syndrome 2
Microphthalmia, Unilateral renal agenesis, Low-set ears, Hypoplasia of the thymus, Anal atresia, ... OMIM:617666
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Sensorineural hearing impairment, Microcornea, High palate, Scleroc... ORPHA:139471
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Palpebral edema, Calcinosis, Elevated circulating C-reactive protein... ORPHA:93672
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Increased total iron binding capacity, Esophageal varix, Abnormal blood i... ORPHA:309854
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Anemia, Abnormal esophagus morphology, Corneal scarring, Spontaneous esophageal perforation, Dysp... OMIM:226600
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Ectopic anus, High palate, Low-set ears, Hearing impairment, Cleft pala... ORPHA:251038
Jacobsen Syndrome
Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Microcornea, Low-set ears, Pyloric ... OMIM:147791
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
8P11.2 Deletion Syndrome
Hypoplasia of penis, Microcornea, Spherocytosis, High palate, Abnormal pinna morphology, Splenome... ORPHA:251066
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Gastroesophageal reflux, Microcornea, High palate, Furrowed tongue, ... OMIM:616449
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Cardiomegaly, Hepa... OMIM:252920
Facial Clefting, Oblique, 1
Microphthalmia, Cleft palate OMIM:600251
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Dyskeratosis Congenita, Digenic
Bilateral ptosis, Anemia, Sparse eyelashes, Decreased circulating IgG level, Decreased circulatin... OMIM:620040
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit... OMIM:251880
Fanconi Anemia
Microphthalmia, Meckel diverticulum, Abnormal pinna morphology, Tracheoesophageal fistula, Leukop... ORPHA:84
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Highly arched eyebrow, Decreased circulating antibody l... ORPHA:3132
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy... OMIM:619418
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome... ORPHA:731
Sepsis In Premature Infants
Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Functional... ORPHA:90051
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membran... OMIM:221900
Otodental Syndrome
Microphthalmia, Microcornea, Retinal coloboma, High-frequency sensorineural hearing impairment, L... ORPHA:2791
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Acute Disseminated Encephalomyelitis
Herpes simplex encephalitis, Optic neuritis, Myelitis, Viral hepatitis ORPHA:83597
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Iris ... ORPHA:231736
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki... OMIM:601186
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Microphthalmia, Microcornea, Microtia, Anal atresia, Septo-optic dysplasia, Catara... ORPHA:3301
Adams-Oliver Syndrome 5
Patent foramen ovale, Esophageal varix, Right atrial enlargement, Portal vein thrombosis, Pulmoni... OMIM:616028
Cockayne Syndrome
Microphthalmia, Urinary incontinence, Retinal atrophy, Splenomegaly, Optic atrophy, Decreased ner... ORPHA:191
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Low alkaline phosphatase, Splenomegaly, Decreased serum zinc OMIM:201100
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting... ORPHA:83461
Degcags Syndrome
Microphthalmia, Sensorineural hearing impairment, Abnormal spleen morphology, Cholestasis, Pulmon... OMIM:619488
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Retinal detachment, High palate, Cleft palate, Cataract, Oligosacchariduria ORPHA:163649
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Multifocal epileptiform discharges, Ocular anterior segment dysgenesis, Bilateral microphthalmos,... ORPHA:369891
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Recurrent otitis media, Intestinal pseudo-obstruction, Abnormal heart valve morphol... OMIM:309900
Immunodeficiency 31C
Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor... OMIM:614162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Mic... OMIM:236670
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Broad eyebrow, Hypohidrosis, Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon ... OMIM:301220
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Renal tubular acid... ORPHA:79240
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... OMIM:263200
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Intestinal polyposis, Low-set, posteriorly rotated ears, Stomach cancer, Corneal ... ORPHA:1052
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco... OMIM:615145
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cel... ORPHA:66628
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,... OMIM:306400
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl... ORPHA:79329
Marden-Walker Syndrome
High, narrow palate, Microphthalmia, Hypospadias, Dextrocardia, High palate, Low-set ears, Pylori... OMIM:248700
Mend Syndrome
Microphthalmia, High palate, Abnormal auditory evoked potentials, Low-set ears, Aortic valve sten... ORPHA:401973
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron... ORPHA:98849
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hypopro... OMIM:609049
Microphthalmia/Coloboma 12
Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ... OMIM:120200
Bartsocas-Papas Syndrome 2
Popliteal pterygium, Axillary pterygium, Microphthalmia, Bilateral cleft palate, Corneal opacity,... OMIM:619339
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Atrial septal defect, Microphthalmia, Transposition of the great arteries, Retinal... OMIM:253800
Bloom Syndrome
Malar rash, Facial telangiectasia in butterfly midface distribution, Decreased circulating IgG le... OMIM:210900
Warburg Micro Syndrome 2
Optic atrophy, Microphthalmia, Undetectable visual evoked potentials, Microcornea, Macrotia, Deve... OMIM:614225
Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Corneal opaci... ORPHA:93474
Giant Cell Arteritis
Mediastinal lymphadenopathy, Vasculitis, Arthritis, Cerebral ischemia, Pericarditis, Ptosis, Hype... ORPHA:397
Temtamy Syndrome
Microphthalmia, Low-set ears, Iris coloboma ORPHA:1777
Microphthalmia, Syndromic 8
Microcornea, Cleft palate, Microphthalmia OMIM:601349
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Abnormal platelet function,... ORPHA:167
Porphyria, Congenital Erythropoietic
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin 1, Corneal scar... OMIM:263700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Sensorineural hearing impairment, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic ner... OMIM:614866
Fryns Syndrome
Microphthalmia, Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Mec... OMIM:229850
Warburg Micro Syndrome 4
Optic atrophy, Microphthalmia, Microcornea, Developmental cataract, Decreased motor nerve conduct... OMIM:615663
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cel... ORPHA:179494
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Acute Liver Failure
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, S... ORPHA:90062
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iri... OMIM:212550
Systemic Sclerosis
Myocarditis, Nail bed telangiectasia, Arthritis, Gastrointestinal telangiectasia, Elevated circul... ORPHA:90291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Microtia, Low-set ... OMIM:614643
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Decreased circulating IgG level, Recurrent pneumonia, Epicanthus, Decreased circula... OMIM:607143
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Sensorineural hearing impairment, Heterochromia iridis, Micr... ORPHA:163746
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Developmental cataract, Retinal neovascularizati... OMIM:193220
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Hi... ORPHA:46059
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis ORPHA:363558
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Cogan Syndrome
Large vessel vasculitis, Anemia, Aortic regurgitation, Thrombocytosis, Inflammatory abnormality o... ORPHA:1467
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Viss Syndrome
Ectropion, Epidural hemorrhage, Increased circulating IgG level, Chronic gastritis, Increased cir... OMIM:619472
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Atrial septal defect, Peters anomaly OMIM:614526
Trisomy 10P
Gastroesophageal reflux, Rectovaginal fistula, Low voltage EEG, EEG with focal spikes, High palat... ORPHA:171929
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Primary hyperparathyroidism, Shortened QT interval, Hypophosphatemia, Hypercalcemia... ORPHA:99880
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad... OMIM:301040
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Zonular cataract, Macrotia, Hepatosplenomegaly, Conjugate... ORPHA:168577
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal gastrointestinal tract morphology, Low-set ears, Intestinal malrotation,... ORPHA:404440
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia, Retinal coloboma ORPHA:363741
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cleft palate, Cataract, Microp... OMIM:610125
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Protruding ear, Astigmatism, Microphthalmia, Low-set ears, Retinal coloboma, Cleft palate, Abnorm... OMIM:618571
Oculoauricular Syndrome
Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Retinal detachment, M... OMIM:612109
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Microphthalmia, Corneal opacity ORPHA:2788
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Retinal coloboma OMIM:601794
Adams-Oliver Syndrome 2
Optic atrophy, Microphthalmia, Low-set ears, Developmental cataract, Protruding ear OMIM:614219
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Low-set ears, Overfolded helix, Persistence of hemoglobin F, Cupped ear OMIM:617101
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Renal hypoplasia, Lens coloboma, Cupped ear OMIM:618914
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Tracheoesophageal fistula, Pyloric sten... ORPHA:379
Baraitser-Winter Syndrome 1
Microphthalmia, Sensorineural hearing impairment, Low-set ears, Aortic valve stenosis, Bicuspid a... OMIM:243310
Parathyroid Carcinoma
Pancreatitis, Primary hyperparathyroidism, Shortened QT interval, Hypophosphatemia, Hypercalcemia... ORPHA:143
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Hypospadias, Methemoglobinemia OMIM:250790
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate OMIM:603194
Nocardiosis
Scleritis, Liver abscess, Thyroiditis, Lymphadenitis, Pericarditis, Keratitis, Peritonitis, Conju... ORPHA:31204
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Hypertension, Tr... OMIM:242900
Agel Amyloidosis
Keratoconjunctivitis sicca, Corneal ulceration, Abnormal spleen morphology, Cardiomyopathy, Facia... ORPHA:85448
Mucopolysaccharidosis Type 6
Chronic otitis media, Abnormal heart valve morphology, Mucopolysacchariduria, Hearing impairment,... ORPHA:583
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Renal hypophosphatemia ORPHA:405
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Corneal erosion, Decreased proportion of class-switched memory B cells, Enterocolitis, Cataract, ... OMIM:614878
Temtamy Syndrome
Microphthalmia, Lens luxation, Low-set ears, Ectopia lentis, Lop ear, Iris coloboma OMIM:218340
Galloway-Mowat Syndrome 1
Optic atrophy, Microphthalmia, High palate, Low-set ears, Focal segmental glomerulosclerosis, Hyp... OMIM:251300
Lacrimal Duct Defect
Lacrimal duct atresia, Sinusitis, Dacryocystitis, Conjunctivitis, Dacryocystocele OMIM:149700
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage... ORPHA:33226
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Hyperparathyroidism, Neonatal Severe
Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Hypercalcemia, Spl... OMIM:239200
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Cohen Syndrome
Optic atrophy, High, narrow palate, Iris coloboma, Microphthalmia, Aplasia/Hypoplasia of the earl... ORPHA:193
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... OMIM:610256
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Hypertension, Chronic pancreatitis OMIM:613159
Dubowitz Syndrome
Aplastic anemia, Short palpebral fissure, Telecanthus, Eczematoid dermatitis, Sparse lateral eyeb... OMIM:223370
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Cleft palate, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma ORPHA:1791
Acro-Renal-Ocular Syndrome
Microphthalmia, Aganglionic megacolon, Optic disc hypoplasia, Sensorineural hearing impairment, M... ORPHA:959
Curry-Jones Syndrome
Intestinal malrotation, Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Cerebrooculofacioskeletal Syndrome 1
Cataract, Sensorineural hearing impairment, Microphthalmia OMIM:214150
Familial Exudative Vitreoretinopathy
Microphthalmia, Abnormal optic disc morphology, Rhegmatogenous retinal detachment, Hearing impair... ORPHA:891
17Q12 Microduplication Syndrome
Atrial septal defect, Cleft palate, Tracheoesophageal fistula, Microphthalmia ORPHA:261272
Isolated Biliary Atresia
Decreased liver function, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating he... ORPHA:30391
Visceral Myopathy 1
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ... OMIM:155310
Chops Syndrome
Optic atrophy, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Vesicoureteral... OMIM:616368
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft palate, Anophthalmia OMIM:164180
Blau Syndrome
Large vessel vasculitis, Anemia, Lymphadenopathy, Xerostomia, Skin rash, Hypertension, Posterior ... ORPHA:90340
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circu... OMIM:232300
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Microphthalmia, Lenz Type
Microphthalmia, Hydroureter, Hypospadias, Low-set, posteriorly rotated ears, Microcornea, Abnorma... ORPHA:568
Biotinidase Deficiency
Decreased circulating biotinidase concentration, Hepatomegaly, Seborrheic dermatitis, Skin rash, ... OMIM:253260
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Blau Syndrome
Iritis, Arthritis, Hypertension, Synovitis, Eczematoid dermatitis, Pericarditis, Nongranulomatous... OMIM:186580
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Hypertension, Cardiomyopath... ORPHA:892
Vici Syndrome
Decreased circulating IgG level, Cardiomyopathy, Decreased circulating IgG2 level ORPHA:1493
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Myoclonic-Astatic Epilepsy
Microphthalmia, EEG with polyspike wave complexes, Interictal epileptiform activity, EEG with irr... ORPHA:1942
Holoprosencephaly
Optic atrophy, Microphthalmia, Gastroesophageal reflux, Hypoplasia of penis, Abnormal antihelix m... ORPHA:2162
Moebius Syndrome
Microphthalmia, Abnormal pinna morphology, Facial diplegia, High palate, Bifid uvula, Dysphagia, ... OMIM:157900
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Hearing impairment, Iris hypopigmentation, Cataract, Abnormality of neutrophils, Hyp... ORPHA:2720
Fryns Microphthalmia Syndrome
Bilateral cleft palate, Microphthalmia, Macrotia, Anophthalmia OMIM:600776
Fabry Disease
Abnormal circulating lipid concentration, Sensorineural hearing impairment, Hyperlipidemia, Corne... ORPHA:324
Charge Syndrome
Mixed hearing impairment, Microphthalmia, Sensorineural hearing impairment, Microtia, Tracheoesop... OMIM:214800
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Chronic mucocutaneous candidiasis, Au... ORPHA:36913
Seckel Syndrome 2
Microphthalmia, Ectopic kidney, Microglossia, Hypospadias OMIM:606744
Gaucher Disease Type 3
Hepatomegaly, Anemia, Increased circulating antibody level, Pancytopenia, Pulmonary arterial hype... ORPHA:77261
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Microphthalmia, Corneal dystrophy, Microcornea, Hearing impairment, Sclerocornea,... ORPHA:1806
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Leukocytosis, Portal hypertension, Por... ORPHA:729
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system,... ORPHA:2714
Hartsfield Syndrome
Microphthalmia, Cleft palate, Low-set, posteriorly rotated ears ORPHA:2117
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Elevated circulating ribitol concentration, Pat... ORPHA:488618
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Cleft palate, High palate ORPHA:1135
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Sensorineural hearing impairment, Microcornea, Abnormal pinna morphology, High pa... ORPHA:35173
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst, Bile duct proliferation, Cleft palate, Atrial septal defect, Ventricu... OMIM:611134
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Thyroiditis, Biliary tract ... ORPHA:733
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Goodpasture Syndrome
Anemia, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscopic hematuria, Renal ins... OMIM:233450
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul... ORPHA:75565
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Microphthalmia, Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Hy... ORPHA:534
Chromosome 8Q21.11 Deletion Syndrome
Protruding ear, Microphthalmia, Sensorineural hearing impairment, High palate, Low-set ears, Clef... OMIM:614230
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Hyperammonemia, Splenomegaly, Hep... OMIM:618641
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Hearing impairment, B... ORPHA:508542
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol... OMIM:613027
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Corneal opacity, High palate, Low-set ears, Hearing impairme... ORPHA:284160
Baraitser-Winter Syndrome 2
Hearing impairment, Abnormal pinna morphology, Microphthalmia OMIM:614583
Reynolds Syndrome
Gastrointestinal hemorrhage, Jaundice, Palmar telangiectasia, Hepatomegaly, Elevated circulating ... OMIM:613471
Lathosterolosis
Anisopoikilocytosis, Bilobate gallbladder, Intrahepatic cholestasis, Hyperbilirubinemia, Hyperamm... OMIM:607330
Generalized Eruptive Keratoacanthoma
Ectropion, Keratoconjunctivitis sicca, Conjunctivitis ORPHA:411777
Meckel Syndrome, Type 1
Microphthalmia, Accessory spleen, Abnormal cardiac septum morphology, Polycystic kidney dysplasia... OMIM:249000
Charcot-Marie-Tooth Disease Type 1F
Urinary incontinence, Decreased nerve conduction velocity, Optic nerve hypoplasia, Sensorineural ... ORPHA:101085
Trichothiodystrophy 1, Photosensitive
Erythroderma, Decreased circulating IgG level, Keratoconjunctivitis sicca, Telangiectasia OMIM:601675
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, High palate, Anal atresia, Pyloric stenos... OMIM:619148
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Short palpebral fissure, Hypertension, Cardiac arrest, Eso... ORPHA:3342
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias, Gastroesophageal reflux, High palate, Low-set ears, Macrotia, Subval... ORPHA:65286
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Reactive Arthritis
Recurrent aphthous stomatitis, Aortic regurgitation, Arthritis, Pericarditis, Pustule, Inflammati... ORPHA:29207
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, Low-set ears, Median cleft palate, Anal atresia,... OMIM:264480
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Hepatomegaly, Lymphadenopathy, Sensorineural hearing impairment, Retroperitoneal f... OMIM:602782
Scleromyxedema
Elevated circulating creatine kinase concentration, Transient ischemic attack, Raynaud phenomenon... ORPHA:167635
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Sensorineu... OMIM:206900
3P25.3 Microdeletion Syndrome
High, narrow palate, Microphthalmia, Sensorineural hearing impairment, Pyloric stenosis, Pulmonic... ORPHA:435638
Dermatomyositis
Myocarditis, Elevated circulating hepatic transaminase concentration, Myositis, Vasculitis, Skin ... ORPHA:221
Arthrogryposis, Distal, Type 2A
Hearing impairment, High palate, Abnormal auditory evoked potentials OMIM:193700
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Hypocalcemic seizures, Anemia, Retinal calcification, Papilledema, Deve... ORPHA:93325
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Cholelithiasis, Juvenile cataract, Abnormal a... ORPHA:909
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Optic nerve hypoplasia, EEG abnormality, Microphthalmia OMIM:614833
Japanese Encephalitis
Increased circulating antibody level, Eyelid fasciculation, Hyponatremia, Increased circulating I... ORPHA:79139
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, High, narrow palate, Microphthalmia, Hypospadias, Cholelithiasis, Microcorn... ORPHA:464738
Trisomy 18
Narrow palate, Microphthalmia, Esophageal atresia, Low-set, posteriorly rotated ears, Microcornea... ORPHA:3380
Martsolf Syndrome 1
Microphthalmia, Cardiomyopathy, High palate, Low-set ears, Developmental cataract, Posteriorly ro... OMIM:212720
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Iris transillumination defect, Microphthalmia, Microcornea, Posteriorly rotated ears, Congenital ... OMIM:617306
Joubert Syndrome 14
Optic atrophy, Microphthalmia, Low-set ears, Renal cyst, Cleft palate, Posteriorly rotated ears, ... OMIM:614424
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Microtia, Ocular albinism, Anal atresia, Anteriorly placed anus, Cupped ear, Abno... ORPHA:1352
Focal Dermal Hypoplasia
Microphthalmia, Iris coloboma, Gastroesophageal reflux, Abnormal cardiac septum morphology, Corne... ORPHA:2092
Cysticercosis
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... ORPHA:1560
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Traboulsi Syndrome
Microphthalmia, Spherophakia, Homocystinuria, Phakodonesis, High palate, Iris atrophy, Ectopia le... OMIM:601552
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Hypocalcemic seizures, Hypocalcemia, Low-set ears, Bifid uvula, Posteriorly rotat... OMIM:241410
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon... OMIM:619991
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Mixed hearing impairment, Microphthalmia, Microtia, Unconjugated hyperbilirubinemia, Prolonged ne... OMIM:620186
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,... OMIM:175780
Trichothiodystrophy
High, narrow palate, Astigmatism, Anemia, Bilateral microphthalmos, Increased mean corpuscular he... ORPHA:33364
Stevenson-Carey Syndrome
Microphthalmia, Gastroesophageal reflux, Low-set ears, Posteriorly rotated ears, Atrial septal de... OMIM:611961
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Microphthalmia, Peters anomaly, Persistent pupillary membrane, Elevated circulating creatine kina... OMIM:613150
Meckel Syndrome, Type 5
Microphthalmia, Cleft palate, Renal cyst, Bile duct proliferation OMIM:611561
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermo... OMIM:613001
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Mosaic Trisomy 1
Microphthalmia, Renal cortical cysts, Abnormal pinna morphology, Ventricular septal defect, Low-s... ORPHA:1692
Treacher-Collins Syndrome
Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Microtia, Glossoptosis, Hypoplasia of ... ORPHA:861
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis OMIM:619431
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Multiple bladder diverticula, Recurrent otitis media, Microtia, Hearing impairmen... ORPHA:2728
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormality of somatosensory evoked potentials, Sensorineural hearing im... ORPHA:99027
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Gastroesophageal reflux, Thrombocytopenia, Splenomegaly, Dysphagia OMIM:230900
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Abnormal pinna morphology, Hearing impairment, Hydronephrosis, Elevated 8(9)-chol... OMIM:302960
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Gastroesophageal reflux, Sensorineu... OMIM:616975
Tetraamelia Syndrome 1
Microphthalmia, Low-set ears, Anal atresia, Asplenia, Cleft palate, Urethral atresia, Cataract OMIM:273395
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Decreased circulating antibody level, Synophrys, Decreased circulating IgG... OMIM:617062
Encephalitis Lethargica
Increased circulating antibody level, Bradycardia ORPHA:83600
1Q21.1 Microdeletion Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Sensorineural hearing impairment, Vesicourete... ORPHA:250989
Galloway-Mowat Syndrome 3
Microphthalmia, Glomerular sclerosis, High palate, Low-set ears, Nephrotic syndrome, Diffuse mesa... OMIM:617729
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Abnormality of cartilage of external ear, Corneal opaci... ORPHA:2399
Monosomy 18P
Microphthalmia, Abnormal antihelix morphology, Macrotia, Cleft palate, Protruding ear ORPHA:1598
Oculopalatocerebral Syndrome
Microphthalmia, Cleft palate, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Increased circ... OMIM:606002
Histiocytoid Cardiomyopathy
Optic atrophy, Microphthalmia, Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Meg... ORPHA:137675
Incontinentia Pigmenti
Optic atrophy, Microphthalmia, Retinal detachment, Leukocytosis, Retinal hemorrhage, Keratitis, H... OMIM:308300
Heart And Brain Malformation Syndrome
High, narrow palate, Microphthalmia, Gastroesophageal reflux, Attached earlobe, Low-set ears, Pos... OMIM:616920
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate, Low-set ears, Posteriorly rotated ears OMIM:613456
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microphthalmia, Microcornea, Macrotia, Ventricular septal defect, Keratoconjunctiv... OMIM:234050
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Retinal dysplasia, Abnormal ea... ORPHA:2556
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Aortic valve calcification, Esophag... ORPHA:2072
Fg Syndrome Type 1
Hypospadias, Gastroesophageal reflux, Optic nerve hypoplasia, Sensorineural hearing impairment, M... ORPHA:93932
African Trypanosomiasis
Myocarditis, Congestive heart failure, Iritis, Jaundice, Myelitis, Lymphadenopathy, Hepatomegaly,... ORPHA:3385
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Microphthalmia, Decreased nerve conduction velocity, Sensorineural hearing impairm... OMIM:610651
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Hydroureter, Microcolon, Intestinal malrotation, Neopl... ORPHA:2241
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri... OMIM:600001
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality, Urinary incontinence ORPHA:206448
Pelvis-Shoulder Dysplasia
Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma OMIM:169550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration OMIM:616538
Glycerol Kinase Deficiency
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Reduced glycerol kinase activity i... OMIM:307030
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Microphthalmia, Retinal neovascularization, Shallow anterior chamber OMIM:305390
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Azotemia, Anterior polar cataract, Sensorineural hearing impairment, Nephrotic syndrom... OMIM:104200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad... ORPHA:508498
Sarcoidosis
Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Abnormal conjunct... ORPHA:797
Cystinosis, Nephropathic
Recurrent corneal erosions, Generalized aminoaciduria, Corneal crystals, Splenomegaly, Dysphagia,... OMIM:219800
Alagille Syndrome 1
Hypertriglyceridemia, Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, R... OMIM:118450
Hennekam Syndrome
Ectopic kidney, Lymphadenopathy, Hypocalcemia, Abnormal pinna morphology, Low-set ears, Ascites, ... ORPHA:2136
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia, Hypotriglyceridemia, Retinal atrophy, Corneal opacity, Abnormality of retinal pig... ORPHA:85167
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias, Low-set, posteriorly rotated ears, Microcornea, Abnormal pinna morph... ORPHA:2505
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia, Ureteral agenesis, Renal hypoplasia OMIM:617914
Knobloch Syndrome
Dextrocardia, Retinal detachment, Macular degeneration, Vesicoureteral reflux, Pyloric stenosis, ... ORPHA:1571
Microphthalmia, Syndromic 2
Microphthalmia, Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Bifid... OMIM:300166
Steinfeld Syndrome
Microphthalmia, Abnormal pinna morphology, Median cleft palate, Retinal coloboma, Hearing impairm... OMIM:184705
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Hydrolethalus
Microphthalmia, Low-set, posteriorly rotated ears, Anophthalmia, Low-set ears, Bifid uvula, Cleft... ORPHA:2189
Okamoto Syndrome
Urinary incontinence, Intestinal malrotation, Abnormal mitral valve morphology, Aortic valve sten... ORPHA:2729
Nasopalpebral Lipoma-Coloboma Syndrome
Conjunctival hyperemia, Microphthalmia, Low-set ears, Cupped ear OMIM:167730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Mydriasis, Sensorineural hearing impairment, Anuria, Microcolon, Peritonitis, Mega... OMIM:619351
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ectopic kidney, Microtia, Tracheoesophageal fistula, Hearing impairment, Atresia ... ORPHA:268249
Rodrigues Blindness
Protruding ear, Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Roberts Syndrome
Microphthalmia, Long penis, Polycystic kidney dysplasia, Abnormal pinna morphology, Absent earlob... ORPHA:3103
Occipital Horn Syndrome
Jaundice, Cholestasis, Esophagitis, Downslanted palpebral fissures, Hepatitis ORPHA:198
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Cleft hard palate, Anemia, Hypercalciuria, Sensorineural hearing impair... OMIM:300990
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Recurrent otitis media, Retinal atrophy, Corneal opacity, Ectopia pupillae, Optic... OMIM:608940
Granulomatosis With Polyangiitis
Chronic otitis media, Localized pulmonary hemorrhage, Retinal hemorrhage, Episcleritis, Sinusitis... OMIM:608710
Xeroderma Pigmentosum, Variant Type
Ectropion, Cutaneous telangiectasia, Entropion, Keratitis, Conjunctivitis OMIM:278750
Frontorhiny
Microphthalmia, Low-set, posteriorly rotated ears, Bifid tongue, Cleft palate, Cataract, Congenit... ORPHA:391474
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Abnormal pinna morphology, Microtia, Retinal coloboma, Hyd... ORPHA:2839
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Cleft soft palate, Azotemia, Optic nerve hypoplasia, Leukocytosis, Intestinal malr... OMIM:619321
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Hypocalcemia, Hearing impairment,... ORPHA:667
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Curly eyelashes, Lymphocytosis, Chronic neutropenia, Short eye... OMIM:258360
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease... ORPHA:77293
Xeroderma Pigmentosum, Complementation Group E
Ectropion, Entropion, Keratitis, Conjunctivitis, Telangiectasia OMIM:278740
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Abnormal earlobe morphology, Large intestinal polyposis, S... ORPHA:116
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Bilateral microphthalmos, Optic nerve hypoplasia, Low-set ears, Cleft palate... OMIM:607597
Nance-Horan Syndrome
Microphthalmia, Microcornea, Macrotia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Conjunctivitis, Ptosis, Arrhythmia, Recurrent skin infections, Tubuloint... ORPHA:33001
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal atrophy, Elevated circulat... OMIM:253280
Deafness, X-Linked 7
Hearing impairment, Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral ... OMIM:301018
Aicardi Syndrome
Optic atrophy, Protruding ear, Microphthalmia, Intestinal polyposis, Gastroesophageal reflux, Ret... ORPHA:50
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Pallister-Hall Syndrome
Microphthalmia, Hydroureter, Ectopic kidney, Microtia, Renal cyst, Distal urethral duplication, A... OMIM:146510
Xeroderma Pigmentosum, Complementation Group D
Ectropion, Corneal neovascularization, Entropion, Keratitis, Conjunctivitis, Keratoconjunctivitis... OMIM:278730
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Astigmatism, Ectopia pupillae, Cataract OMIM:618727
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Protruding ear, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachmen... ORPHA:2526
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Microtia, High palate, Low-set ears, Cleft palate, Ventricular septal defect OMIM:612530
Microphthalmia, Syndromic 11
Microphthalmia, Cleft palate OMIM:614402
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Low-set ears, High palate, Cleft palate, Posteriorly rotated ears OMIM:206920
Teebi-Shaltout Syndrome
High, narrow palate, Hypoplastic helices, Microphthalmia, Small earlobe, Low-set ears, Ureteral s... OMIM:272950
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Sclerocornea, Ectopia pupillae, Cataract OMIM:615877
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Hydronephrosis, Hydroureter, Microcolon OMIM:619362
Incontinentia Pigmenti
Microphthalmia, Retinal detachment, Corneal opacity, Retinal hemorrhage, Keratitis, Cataract, Eos... ORPHA:464
Fetal Alcohol Syndrome
Atrial septal defect, Cleft palate, Low-set, posteriorly rotated ears, Microphthalmia ORPHA:1915
Joubert Syndrome 2
Microphthalmia, Nephronophthisis, High palate, Low-set ears, Renal cyst, Optic disc coloboma, Ren... OMIM:608091
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Microcornea, High palate, Low-set ears, Cleft palate, Posteriorly rotated ears, O... OMIM:156610
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension, Rec... OMIM:606721
Alkaptonuria
Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral valve calcific... ORPHA:56
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Impaired T cell function, Allergic conjunctivitis, Allergic rhinitis OMIM:176690
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Primary hypothyroi... ORPHA:64
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Townes-Brocks Syndrome
Microphthalmia, Ectopic kidney, Hypoplasia of penis, Abnormal pinna morphology, Microtia, Urethra... ORPHA:857
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Low-set ears, Abnormal heart morphology, Posteriorly rotated ears, EEG ... OMIM:610758
Renpenning Syndrome 1
Situs inversus totalis, Protruding ear, Microphthalmia, Hypospadias, Phimosis, High palate, Anal ... OMIM:309500
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Abnormality of T cell physiology, Psoria... ORPHA:2237
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Abnormal pinna morphology, Microtia, Low-set ears, Anal atresia, Cleft palate, Te... OMIM:617925
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Anophthalmia, Sensorineural hearing impairment, Renal cyst, Dysphag... OMIM:615636
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Microcornea, Persistent pupillary membrane, Low-set ears, Cataract, Large earlobe OMIM:257850
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Microphthalmia, Microcornea, High palate, Zonular cataract, Underfolded helix, ... OMIM:268400
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Recurrent otitis media, Gastroesophageal reflux, Low-set ears, Ankyloglossi... OMIM:619525
Digeorge Syndrome
Bifid uvula, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Hypocalcemia, Truncus a... OMIM:188400
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacrimal punctal atresia ORPHA:91416
Vacterl With Hydrocephalus
Microphthalmia, Esophageal atresia, Anophthalmia, Microcornea, Microtia, third degree, Anal atres... ORPHA:3412
Xeroderma Pigmentosum, Complementation Group C
Ectropion, Entropion, Keratitis, Conjunctivitis, Telangiectasia OMIM:278720
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... OMIM:600886
Branchiooculofacial Syndrome
Microphthalmia, Sensorineural hearing impairment, Microtia, Malrotation of colon, Ectopic thymus ... OMIM:113620
Cousin Syndrome
Microphthalmia, Microcornea, Low-set ears, Hearing impairment, Microtia, first degree, Hydronephr... OMIM:260660
Oculodentodigital Dysplasia
Microphthalmia, Neurogenic bladder, Microcornea, High palate, Abnormal pinna morphology, Conducti... OMIM:164200
Plasminogen Deficiency, Type I
Nephritis, Periodontitis, Decreased level of plasminogen, Conjunctivitis OMIM:217090
Ohdo Syndrome, X-Linked
Microphthalmia, Microtia, High palate, Low-set ears, Hearing impairment, Posteriorly rotated ears... OMIM:300895
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Mitra... OMIM:618874
Bartsocas-Papas Syndrome 1
Popliteal pterygium, Axillary pterygium, Anal stenosis, Microphthalmia, Ectopic kidney, Pterygium... OMIM:263650
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Bifid uvula, Cleft palate, Cataract, Submucous... ORPHA:2250
Aymé-Gripp Syndrome
Bilateral ptosis, Long eyelashes, Shallow orbits, Pericarditis, Downslanted palpebral fissures, U... ORPHA:1272
Neuroocular Syndrome
Microphthalmia, Short uvula, Unilateral deafness, Microcornea, Stellate iris, Patent foramen oval... OMIM:619539
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Renal cyst, Anal atresia, Renal hypoplasia, Macrotia, Cleft palate, Lobulated ton... OMIM:616300
Phace Association
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Ventricular septal... OMIM:606519
Curry-Jones Syndrome
Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Iris coloboma OMIM:601707
Proboscis Lateralis
Microphthalmia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Microcornea, Hig... ORPHA:141099
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Protruding ear, Microphthalmia, Cleft palate, Low-set ears OMIM:620098
Charge Syndrome
Microphthalmia, Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Dysphagia, Abnorm... ORPHA:138
Velocardiofacial Syndrome
Hypoparathyroidism, Hypocalcemia, Impaired T cell function, Narrow palpebral fissure, Blepharophi... OMIM:192430
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
2Q31.1 Microdeletion Syndrome
Microphthalmia, Low-set ears, Cleft palate, Optic disc coloboma, Atrial septal defect, Ventricula... ORPHA:251014
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Hypospadias, Low-set, posteriorly rotated ears, Hypoplasia of penis, Anal atresia... ORPHA:2166
Yunis-Varon Syndrome
High, narrow palate, Microphthalmia, Bilateral microphthalmos, Hypospadias, Abnormal pinna morpho... ORPHA:3472
Phace Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Optic nerve hypoplasia, Heterochromia iridis,... ORPHA:42775
Meckel Syndrome 14
Microphthalmia, Polycystic kidney dysplasia, Low-set ears, Hepatic fibrosis, Single ventricle OMIM:619879
Mowat-Wilson Syndrome
Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Pulmonic stenosis, Aortic... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Iris atrophy, Pulmonic st... ORPHA:261552
Norrie Disease
Optic atrophy, Protruding ear, Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment... ORPHA:649
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Corneopalpebral synechiae, Anophthalmia, Anteriorly placed anus OMIM:248450
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Low-set ears ORPHA:228390
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Urinary incontinence, Sensorineural hearing impairment, Pulmonic stenosis, Aortic... ORPHA:261537
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Low-set ears OMIM:300863
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Hallermann-Streiff Syndrome
Narrow palate, High, narrow palate, Microphthalmia, High palate, Low-set ears, Optic disc colobom... OMIM:234100
Basal Cell Nevus Syndrome 1
Microphthalmia, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Cardiac fibroma, Cleft palate,... OMIM:109400
Fraser Syndrome 1
Bilateral microphthalmos, Abnormal middle ear morphology, Hypospadias, Anophthalmia, Abnormal pin... OMIM:219000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary... OMIM:619534
Lymphedema-Distichiasis Syndrome
Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Cleft palate, Tetralogy of Fallot... OMIM:153400
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Cataract, Cleft palate, Optic disc coloboma, H... OMIM:304050
Mowat-Wilson Syndrome
Atrial septal defect, Microphthalmia, Aganglionic megacolon, Recurrent otitis media, Hypospadias,... OMIM:235730
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypospadias, Abnormal pinna morphology, Absent tragus, High palate, Atresia of th... OMIM:603457
Oculotrichoanal Syndrome
Microphthalmia, Anal stenosis, Anteriorly placed anus, Anophthalmia ORPHA:2717
Ayme-Gripp Syndrome
Broad eyebrow, Pericarditis, Downslanted palpebral fissures, Ptosis, Upslanted palpebral fissure OMIM:601088
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Small earlobe, Corneal opacity, Hearing impairment, Cleft palate, Microglossia ORPHA:364577
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Low-set ears ORPHA:163966
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Congenital hypothyroidism, Neutropenia OMIM:271510
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hydrolethalus Syndrome 1
Microphthalmia, Hypospadias, Accessory spleen, Abnormal pinna morphology, Low-set ears, Cleft pal... OMIM:236680
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Sensorineural hearing impairment, Facial palsy, Remnants of the h... ORPHA:637
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Dense posterior cortical cataract, Microphthalm... OMIM:309000
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal hypertrophy, Sensorineural hearing impairment, Exaggerated med... OMIM:608670
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Mixed hearing impairment, Microphthalmia, Iris atrophy, Cleft palate OMIM:201180
Microphthalmia, Syndromic 1
Microphthalmia, Abnormal pinna morphology, Bicuspid aortic valve, Aganglionic megacolon, Hypospad... OMIM:309800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Microphthalmia, Hypospadias, High palate, Total anomalous pulmonary venous r... OMIM:609945
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia, Abnormal ... OMIM:268300
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Patent foramen ovale, High palate, Low-set ears, Anteverted ears, Hearing impairm... OMIM:613884
Premature Aging Syndrome, Penttinen Type
Sensorineural hearing impairment, Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Microphthalmia, Sclerocornea OMIM:300952
Johanson-Blizzard Syndrome
Conjunctival icterus, Sensorineural hearing impairment, Ascites, Urethrovaginal fistula, Splenome... OMIM:243800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Hypospadias, Unilateral renal agenesis, Low-set, posteriorly rotated ea... ORPHA:468631
Focal Dermal Hypoplasia
Optic atrophy, Mixed hearing impairment, Ureteral duplication, Microphthalmia, Aniridia, Anophtha... OMIM:305600
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia, High palate, Cupped ear OMIM:110100
Tetrasomy 9P
Jaundice, Biliary atresia, Myositis, Arthritis, Pulmonary arterial hypertension, Pericarditis, Do... ORPHA:3310
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect OMIM:619135
Hallermann-Streiff Syndrome
High, narrow palate, Microphthalmia, Glossoptosis, Developmental cataract, Abdominal situs inversus ORPHA:2108
Monosomy 9Q22.3
Microphthalmia, Low-set ears, Cardiac fibroma, Cataract, Thickened ears ORPHA:77301
Myhre Syndrome
Microphthalmia, Microtia, Low-set ears, Aortic valve stenosis, Pericardial effusion, Hearing impa... OMIM:139210
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Monosomy 13Q14
Protruding ear, Abnormality of the gastrointestinal tract, Microphthalmia, Low-set ears, Cataract... ORPHA:1587
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Hypospadias, Microtia, Microcornea, Low-set ears, Ureterocele, Uplifted earlobe, ... OMIM:616734
Microcephaly-Micromelia Syndrome
Microphthalmia, Cleft palate, Low-set ears OMIM:251230
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Retinal calcification, Iris atrophy, Absent anterior chamber of the eye, Cataract... OMIM:259770
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Perimembranous ventricular septal defect, Transposition of the great arter... OMIM:612474
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Hearing impairment, Atresia of the external auditory canal, Tetralogy of Fallot, ... ORPHA:3186
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Trichiasis, Anemia, Elevated circulating hepatic transaminase conc... ORPHA:95455
Microphthalmia With Limb Anomalies
Optic atrophy, Microphthalmia, True anophthalmia, Low-set, posteriorly rotated ears, High palate,... ORPHA:1106
Frontonasal Dysplasia 2
Microphthalmia, Low-set ears OMIM:613451
Fontaine Progeroid Syndrome
High, narrow palate, Microphthalmia, Gastroesophageal reflux, Low-set ears, Protruding tongue, Co... OMIM:612289
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Atrioventricular canal defect, Bilateral microphthalmos, Unilateral ... ORPHA:508488
Monosomy 9P
Microphthalmia, Hypospadias, Abnormal antihelix morphology, Microtia, High palate, Low-set ears, ... ORPHA:261112
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Conductive hearing impairment, Cleft palate, T... ORPHA:306542
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Large earlobe, Microphthalmia, Hypoplasia of the ear cartilage, Iris coloboma ORPHA:1236
Momo Syndrome
Bilateral microphthalmos, Underfolded helix, High palate ORPHA:2563
Linear Nevus Sebaceus Syndrome
EEG abnormality, Microphthalmia, Iris coloboma ORPHA:2612
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Microcornea, High palate, Low-set ears, Hearing impairment, Renal h... OMIM:607932
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia OMIM:250220
Fraser Syndrome
Microphthalmia, Anal stenosis, Hypospadias, Anorectal anomaly, Hypoplasia of penis, Low-set, post... ORPHA:2052
Frontofacionasal Dysplasia
Microphthalmia, Microcornea, Bifid uvula, Cataract, Iris coloboma OMIM:229400
Witteveen-Kolk Syndrome
High, narrow palate, Protruding ear, Glue ear, Hypospadias, Gastroesophageal reflux, Microphthalm... OMIM:613406
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Hamartomatous polyposis, Abnormal large intestine morphology... ORPHA:109
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Bilateral cleft palate, Unilateral cleft palate, Median... OMIM:610828
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, An... ORPHA:79318
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Short hard palate, Optic nerve hypoplasia, Bilateral cleft palate, ... OMIM:610829
Adams-Oliver Syndrome 1
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Cleft palate, Tetralogy of Fallot, Bicu... OMIM:100300
Restrictive Dermopathy
Atrial septal defect, Transposition of the great arteries, Ureteral duplication, Hypospadias, Dex... ORPHA:1662
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Ischemic stroke, Broad lateral eyebrow, Transient ischemic attack, Secretory IgA deficiency, Decr... ORPHA:500150
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Neu-Laxova Syndrome 1
Microphthalmia, Transposition of the great arteries, Pterygium, Patent foramen ovale, Low-set ear... OMIM:256520
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Low-set ears, Remnants of the hyaloid vascular system, Cleft palate, Subm... OMIM:603671
Holoprosencephaly 2
Microphthalmia, Single ventricle, Bilateral cleft palate, Median cleft palate, Remnants of the hy... OMIM:157170
Pallister-Hall Syndrome
Microphthalmia, Atrioventricular canal defect, Ectopic kidney, Hypospadias, Unilateral renal agen... ORPHA:672
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Nk-Cell Enteropathy
Hematochezia, Increased T cell count ORPHA:263665
Craniofacial Microsomia 1
Microphthalmia, Ectopic kidney, Anophthalmia, Sensorineural hearing impairment, Microtia, Vesicou... OMIM:164210
Treacher Collins Syndrome 1
Bilateral microphthalmos, Cleft soft palate, Microtia, Atresia of the external auditory canal, Co... OMIM:154500
Isolated Arrhinia
Microtia, Microphthalmia ORPHA:1134
Holoprosencephaly 1
Microphthalmia, Micropenis, Median cleft palate, Single ventricle OMIM:236100

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH pathological process term hyperplasia Ppiaem1(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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ppiatm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ppiatm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ppiaem1(IMPC)Mbp Whole-gene deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter