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Gene: Id3 MGI:96398

Gene Summary

Name:

inhibitor of DNA binding 3

Synonyms:

bHLHb25, Idb3, HLH462

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
small liver	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Id3^em1(IMPC)Mbp	HOM	Early adult	1.42×10^-10
abnormal spleen morphology	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
corneal opacity	Id3^em1(IMPC)Mbp	HOM	Early adult	1.10×10^-05
abnormal liver morphology	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Id3^em1(IMPC)Mbp	HOM	Early adult	8.11×10^-06
decreased brain size	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased startle reflex	Id3^em1(IMPC)Mbp	HOM	Early adult	1.73×10^-05
abnormal testis morphology	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean platelet volume	Id3^em1(IMPC)Mbp	HOM	Early adult	5.20×10^-05
increased spleen weight	Id3^em1(IMPC)Mbp	HOM	Early adult	4.61×10^-06
increased red blood cell distribution width	Id3^em1(IMPC)Mbp	HOM	Early adult	2.79×10^-05
enlarged spleen	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
small testis	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina blood vessel morphology	Id3^em1(IMPC)Mbp	HOM	Early adult	2.31×10^-05
abnormal brain morphology	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased prepulse inhibition	Id3^em1(IMPC)Mbp	HOM	Early adult	2.14×10^-05
increased mean corpuscular volume	Id3^em1(IMPC)Mbp	HOM	Early adult	2.56×10^-05
small kidney	Id3^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

46 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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Human diseases caused by Id3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Id3 (0 diseases)
Human diseases predicted to be associated with Id3 (1393 diseases)

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

The table below shows human diseases predicted to be associated to Id3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Secretory Component Deficiency	Secretory IgA deficiency	OMIM:269650
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Immunodeficiency 24	Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,...	OMIM:615897
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level...	OMIM:608106
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res...	OMIM:616452
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima	OMIM:240000
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Hypohidrosis, Lacrimation abnormality	ORPHA:1484
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Alacrima, Abnormality of adrenal physiology, Achalasia	OMIM:300858
Immunodeficiency, Common Variable, 14	Decreased specific antibody response to vaccination, Decreased circulating IgG level, Decreased c...	OMIM:617765
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Elevated circulating hepatic transaminase concentra...	ORPHA:182050
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c...	OMIM:619707
Immunodeficiency 11A	Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife...	OMIM:615206
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM	OMIM:606445
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Corneal opacity, Hepatomegaly, Thrombocytopenia	ORPHA:1980
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima, Gastroesophageal reflux	OMIM:608088
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Microphthalmia	ORPHA:2432
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c...	OMIM:613502
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Keratitis, Epiphora	OMIM:148200
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality	ORPHA:1562
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten...	OMIM:613673
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Reticular Dysgenesis	Lack of T cell function, Impaired T cell function	OMIM:267500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency, Common Variable, 3	Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I...	OMIM:613493
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgA level	OMIM:613500
Immunodeficiency 50	Decreased circulating antibody level	OMIM:300988
Alacrima, Congenital, Autosomal Dominant	Alacrima, Decreased lacrimation	OMIM:103420
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Transcobalamin Deficiency	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	ORPHA:859
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:618987
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentat...	ORPHA:290
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Irritabi...	ORPHA:231226
Marsili Syndrome	Hypohidrosis, Lacrimation abnormality	OMIM:147430
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Increased cir...	OMIM:618944
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Hydroa Vacciniforme	Epiphora, Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermati...	ORPHA:330058
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Immunodeficiency 62	Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir...	OMIM:618459
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hypohidrosis, Recurrent skin infections, Decreased lacrimation	OMIM:616488
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam...	OMIM:300400
Graft Versus Host Disease	Gastrointestinal inflammation, Decreased lacrimation, Inflammatory abnormality of the eye, Stomat...	ORPHA:39812
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity	OMIM:614493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia	OMIM:200900
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Astigmatism, Pancytopen...	OMIM:617052
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality	OMIM:167400
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ascites, Siderobl...	OMIM:617021
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,...	OMIM:616959
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Bernard-Soulier Syndrome	Giant platelets, Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induce...	OMIM:231200
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia	OMIM:616941
Sitosterolemia 1	Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, ...	OMIM:210250
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Keratosis Pilaris Atrophicans	Epiphora	OMIM:604093
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Agammaglobulinemia, Decreased circulating total IgM, Decreased c...	OMIM:612692
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Sialidosis Type 2	Hepatomegaly, Tremor, Corneal opacity, Ascites, Splenomegaly, Abnormal macular morphology, Nephro...	ORPHA:87876
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion o...	OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Lacrimal Duct Defect	Epiphora, Sinusitis, Conjunctivitis, Dacryocystocele, Periorbital edema	OMIM:149700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Lacrimation abnormality, Hypohidrosis	ORPHA:1882
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet...	OMIM:617443
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica...	OMIM:604273
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating hepatic tra...	ORPHA:858
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum...	ORPHA:98870
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Depression, Organic aciduria, Intenti...	OMIM:301310
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Anorexia, Isothenuria, Reticulocytosis, Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubula...	OMIM:611590
Sunct Syndrome	Palpebral edema, Episodic hyperhidrosis, Epiphora, Vomiting, Nausea, Conjunctival hyperemia, Hype...	ORPHA:57145
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Ab...	ORPHA:2169
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr...	OMIM:618849
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Hydronephrosis, Thrombocytopenia	OMIM:300048
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Majeed Syndrome	Delayed puberty, Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:609628
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Aicardi-Goutieres Syndrome 6	Irritability, Hepatomegaly, Tremor, Dystonia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Helix Syndrome	Hypohidrosis, Anhidrosis, Hyperparathyroidism, Alacrima, Xerostomia	OMIM:617671
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Neutropenia in presence of ...	OMIM:603909
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphocyte proliferation in r...	OMIM:615592
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Erythroderma, Decreased lacrimation, Conjunctivitis	OMIM:242150
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating total IgA, Decreased circulating total IgM...	OMIM:618969
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic...	OMIM:613730
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 48	Absence of CD8-positive T cells, Impaired lymphocyte transformation with phytohemagglutinin, Sple...	OMIM:269840
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level	OMIM:611926
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Increased mean platele...	OMIM:222470
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto...	ORPHA:1473
Intellectual Disability-Alacrima-Achalasia Syndrome	Alacrima, Achalasia, Dysphagia	ORPHA:289483
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Hypothyroidism, I...	ORPHA:84064
16Q24.3 Microdeletion Syndrome	Astigmatism, Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Dysphag...	ORPHA:261250
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia...	ORPHA:300298
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Isolated Congenital Alacrima	Alacrima, Keratitis, Lacrimal gland hypoplasia, Conjunctivitis	ORPHA:91416
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia	ORPHA:238459
Kilquist Syndrome	Gastroesophageal reflux, Alacrima, Xerostomia, Chronic constipation	OMIM:619080
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Sjogren Syndrome	Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis, Autoimmunity, Tubulointerstitial ne...	OMIM:270150
Takenouchi-Kosaki Syndrome	Optic atrophy, Unilateral renal agenesis, Hypospadias, Increased mean platelet volume, Hydronephr...	OMIM:616737
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Glucocorticoid Deficiency 2	Bilateral cryptorchidism, Alacrima, Decreased circulating cortisol level, Recurrent pneumonia, Ac...	OMIM:607398
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Corneal opacity, Hypogonadism, At...	ORPHA:281090
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Dystonia	ORPHA:139406
Immunodeficiency, Common Variable, 2	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce...	OMIM:240500
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Lacrimoauriculodentodigital Syndrome 3	Alacrima, Xerostomia	OMIM:620193
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda...	OMIM:613313
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Anemia, Hydronephrosis, Thrombocytopenia...	OMIM:611209
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Glut1 Deficiency Syndrome 2	Irritability, Tremor, Reticulocytosis, Dystonia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Irritability, Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocyto...	OMIM:618278
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Galactosialidosis	Corneal opacity, Cherry red spot of the macula	ORPHA:351
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va...	OMIM:618261
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgE, Partial absence of specific antibody response to tetanus vaccine, Decr...	OMIM:619824
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:620430
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating total IgM, Reduced natural killer cell act...	OMIM:619281
Classic Progressive Supranuclear Palsy Syndrome	Conjunctival hyperemia, Neuromuscular dysphagia, Decreased lacrimation	ORPHA:240071
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity	OMIM:607624
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Decreased circulating IgG level,...	OMIM:619774
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Intention tremor, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Diabetes insipidus, Neurogenic bladder, Megaloblastic anemia, Tremor,...	OMIM:222300
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level	OMIM:617638
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Achalasia-Addisonianism-Alacrima Syndrome	Adrenocorticotropin receptor defect, Achalasia, Decreased circulating cortisol level, Decreased c...	OMIM:231550
Mucolipidosis Iv	Optic atrophy, Abnormal abdomen morphology, Corneal opacity, Dystonia, Hypergastrinemia, Opacific...	OMIM:252650
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomeg...	OMIM:607616
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Frontonasal Dysplasia 2	Hypohidrosis, Oligohydramnios, Decreased lacrimation, Bilateral cryptorchidism	OMIM:613451
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93476
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Agitation, Astigmatism, Microphthalmia, Myopic astigmatism, Retinal detachment, Mi...	OMIM:152950
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Megaloblastic anemia, Dystonia, Methylmalonic ...	OMIM:277410
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Dystonia, Thrombocytopenia, Splenome...	ORPHA:79312
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Cockayne Syndrome Type 1	Decreased lacrimation, Diarrhea, Hypohidrosis, Conjunctivitis, Cryptorchidism, Uveitis	ORPHA:90321
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve...	OMIM:617241
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Foveal Hypoplasia 2	Optic nerve misrouting, Microphthalmia, Astigmatism, Foveal hyperpigmentation, Axenfeld anomaly, ...	OMIM:609218
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia, Hypogonadism	ORPHA:2528
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt...	OMIM:206100
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Beta-Thalassemia	Irritability, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemo...	ORPHA:848
Limbal Stem Cell Deficiency	Lacrimation abnormality, Conjunctival hyperemia, Keratitis, Epiphora	ORPHA:171673
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Lacrimation abnormality	ORPHA:1135
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Diamond-Blackfan Anemia	Developmental glaucoma, Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic...	ORPHA:124
Immunodeficiency 37	Decreased circulating antibody level	OMIM:616098
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Depression, Leukopenia, Splenomegaly, Thrombocytopenia, Renal i...	ORPHA:108
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:607594
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa...	OMIM:616171
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Horseshoe kidney, Ne...	OMIM:612562
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Tremor, Corneal opacity, Retinopathy, Urinary excretion...	ORPHA:812
Lacrimoauriculodentodigital Syndrome 2	Alacrima, Conjunctivitis	OMIM:620192
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Development...	ORPHA:335
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Alacrima, Lacrimal duct stenosis, Conjunctivitis	OMIM:615560
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:193670
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Increased circulating IgE level, ...	ORPHA:98813
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Dystonia, Cherry red spot of the macula, Splenomegaly, Opacification of the corneal...	OMIM:230650
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cyst...	OMIM:611040
Paroxysmal Hemicrania	Rhinitis, Conjunctival hyperemia, Palpebral edema, Epiphora	ORPHA:157835
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Developmental cataract, Cryptorchidism, Micropenis	OMIM:618815
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Constipation, Alacrima	OMIM:223900
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Chondroectodermal Dysplasia With Night Blindness	Epiphora, Hyperhidrosis, Otitis media	ORPHA:319195
Alpha-Mannosidosis, Adult Form	Pancytopenia, Depression, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Opti...	ORPHA:309288
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:614069
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia	OMIM:616176
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Alpha-Mannosidosis	Hepatomegaly, Corneal opacity, Splenomegaly, Type II diabetes mellitus, Cataract	ORPHA:61
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased lacrimation, Hypohidrosis, Alacrima, Cryptorchidism, Ileus	OMIM:609136
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma	OMIM:616428
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cofs Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Hypogonadism, Cataract	ORPHA:1466
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent isohemagglutinin level	OMIM:613501
Achalasia, Familial Esophageal	Rheumatoid arthritis, Achalasia, Keratoconjunctivitis sicca, Xerostomia	OMIM:200400
Bernard-Soulier Syndrome	Giant platelets, Menorrhagia, Macroscopic hematuria, Decreased platelet glycoprotein Ib-IX-V, Mac...	ORPHA:274
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia	OMIM:616873
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Optic atrophy, Unilateral renal agenesis, Hypospadias, Abnormality of the endocrine system, Abnor...	ORPHA:487796
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchi...	ORPHA:363741
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Bone m...	ORPHA:86839
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia, Abnormal vitreous humor morphology, Retinal detachm...	ORPHA:2788
Zellweger Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, H...	ORPHA:912
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Orotic Aciduria	Oroticaciduria, Hematuria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Abnormal anterior eye segment morphology, Subretina...	ORPHA:209956
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Dystonia, Th...	OMIM:610333
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Astigmatism, Hypospadias, Elevated circulating hepatic transaminase concentration, ...	OMIM:301056
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Decr...	OMIM:618394
Winchester Syndrome	Corneal opacity	OMIM:277950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Catar...	OMIM:251270
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Tremor, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Reduced sperm motility, Splenomegaly, Retinal degeneratio...	OMIM:602271
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly, Adrenal calcification	OMIM:620151
Gaucher Disease Type 2	Hepatomegaly, Dysphagia, Splenomegaly, Dystonia	ORPHA:77260
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia, Primary amenorrhea	OMIM:616947
Stuve-Wiedemann Syndrome 1	Hyperhidrosis, Oligohydramnios, Dysphagia, Decreased lacrimation	OMIM:601559
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular exudate, Vitreous hemorrhage, Retinal neovascular...	ORPHA:891
Juvenile Sialidosis Type 2	Optic atrophy, Hepatomegaly, Corneal opacity, Visceromegaly, Hepatosplenomegaly, Dysphagia, Cherr...	ORPHA:93399
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:618108
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Herpes Simplex Virus Stromal Keratitis	Conjunctival hyperemia, Corneal stromal edema, Keratitis, Epiphora	ORPHA:137599
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase...	OMIM:308230
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity	OMIM:274270
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Hypoplasia of penis, Anophthalmia, Retinal dyst...	ORPHA:899
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hypohidrosis, Alacrima, Dysphagia, Achalasia, Adrenal insufficiency	OMIM:615510
Deeah Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Chronic diarrhea, Anterior...	OMIM:619004
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Abnormality of thrombocytes	ORPHA:172
Kimura Disease	Increased circulating IgE level	ORPHA:482
Warburg Micro Syndrome 1	Optic atrophy, Microphthalmia, External genital hypoplasia, Microcornea, Developmental cataract, ...	OMIM:600118
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Shallow anterior chamber, Intraretinal exudate,...	OMIM:305390
Niemann-Pick Disease, Type A	Irritability, Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Athe...	OMIM:257200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria, Chorioretinal coloboma, Cataract, Iris coloboma	OMIM:120433
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abdominal mass, Ureter...	ORPHA:160
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Cystinosis	Polydipsia, Delayed puberty, Nephropathy, Corneal opacity, Portal hypertension, Nephrogenic diabe...	ORPHA:213
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6...	OMIM:300853
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hyp...	OMIM:602390
Congenital Sialidosis Type 2	Optic atrophy, Hepatomegaly, Yellow/white lesions of the retina, Corneal opacity, Ascites, Develo...	ORPHA:93400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Immunodeficiency, Common Variable, 6	Autoimmune thrombocytopenia, Abnormal T cell count, Abnormal B cell count	OMIM:613496
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Anhidrosis, Blepharitis, Conjunctivitis, Alacrima, Supernumerary nipple	OMIM:106260
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity	ORPHA:277
Immunodeficiency 27A	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:209950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia	OMIM:124900
Trichothiodystrophy 6, Nonphotosensitive	Microcornea, Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypohidrosis, Ileus, Decreased lacrimation, Constipation	ORPHA:163746
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Wagro Syndrome	Hypoplastic female external genitalia, Agitation, Aniridia, Emotional lability, Low frustration t...	OMIM:612469
Cholesteryl Ester Storage Disease	Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepatic echogenicit...	OMIM:278000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Vernal Keratoconjunctivitis	Epiphora, Keratoconjunctivitis, Punctate keratitis, Blepharitis, Conjunctival hyperemia, Allergic...	ORPHA:70476
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Retinal detachment, Corneal opacity, Left ventricular hypertrophy, Cataract	OMIM:613153
Erythrokeratodermia Variabilis	Cataract, Diabetes mellitus, Corneal opacity, Abnormal testis morphology	ORPHA:317
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Athetosis, Corneal opacity, Ureteral stenosis, Aplasia/Hypoplasia affecting the eye, Chor...	ORPHA:2719
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Familial Dysautonomia	Hypohidrosis, Alacrima, Hyperhidrosis, Gastroesophageal reflux	ORPHA:1764
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Macular degener...	ORPHA:333
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ...	OMIM:617319
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac...	OMIM:267760
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level	OMIM:618752
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia, Tremor	OMIM:278780
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Blepharonasofacial Malformation Syndrome	Lacrimation abnormality, Cryptorchidism	ORPHA:1252
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Resting tremor, Hyperactivity, Tremor, Ab...	ORPHA:3077
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Gm1 Gangliosidosis	Optic atrophy, Retinopathy of prematurity, Tremor, Corneal opacity, Abnormal scrotum morphology, ...	ORPHA:354
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Agammaglobulinemia, Decreased circulating IgG level	OMIM:619705
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:507
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Meckel Syndrome	Microphthalmia, Ureteral duplication, Pancreatic fibrosis, Abnormal chorioretinal morphology, Opt...	ORPHA:564
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Abnormal T cell ...	OMIM:308240
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, 3-Methylglutaconic aciduria, Delayed puberty, Optic nerve hypoplasia, Corneal opac...	ORPHA:496790
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy	OMIM:105200
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Abnormality of the hypothalamus-pit...	ORPHA:139471
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Focal Facial Dermal Dysplasia Type Iii	Lacrimation abnormality	ORPHA:1807
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:611638
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, ...	ORPHA:1643
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Thrombocytopenia, Splenomegaly	OMIM:231000
Neurotrophic Keratopathy	Lacrimation abnormality, Corneal stromal edema, Anterior uveitis	ORPHA:137596
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Splenomegaly, Acute mye...	ORPHA:2585
Pierpont Syndrome	Microcornea, Cryptorchidism, Micropenis, Microphthalmia	OMIM:602342
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:619510
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:294
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Elevated circulating hepatic transaminase concentration, Dysphagia...	OMIM:612379
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Microcornea, Intention tremor, Cataract, Hypogonadotropic hypogonadism	ORPHA:48431
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy,...	OMIM:603903
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Epiphora, Periorbital edema, Dacryocystocele, Nasolacrimal duc...	ORPHA:141083
Gaucher Disease Type 1	Delayed puberty, Ascites, Leukopenia, Splenomegaly, Anorexia, Pinguecula, Pancytopenia, Depressio...	ORPHA:77259
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level	OMIM:614878
Congenital Erythropoietic Porphyria	Increased urinary porphobilinogen, Corneal ulceration, Purple urine, Porphyrinuria, Red-brown uri...	ORPHA:79277
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Chorioretinal coloboma, Iris coloboma	OMIM:300915
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Increased circulating T4 concentration, Jaundice, Hepatomegaly, Elevate...	ORPHA:525731
Microphthalmia/Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma, Iris coloboma	OMIM:614497
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Vesicoureteral reflux, Cryptorchidism, D...	ORPHA:494344
Pierpont Syndrome	Microcornea, Cryptorchidism, Microphthalmia	ORPHA:487825
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Alacrima, Hyperhidrosis, Gastroesophageal reflux	OMIM:614653
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Irritability, Normocytic anemia, Normochromic anemia, Glomerular sclerosis, Depression, Retinal n...	ORPHA:247691
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia,...	OMIM:214110
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Retinal degeneration	OMIM:272200
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocorn...	OMIM:243605
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Cataract, Urinary excretio...	OMIM:256550
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Decreased lacrimation, Lacrimal gland hypoplasia, Elevated circulating fo...	ORPHA:572333
Trisomy 8P	Annular pancreas, Decreased lacrimation, Constipation, Cryptorchidism, Aplasia/Hypoplasia of the ...	ORPHA:264450
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Retinopathy, Thrombocytopenia,...	ORPHA:158029
Wilson Disease	Sunflower cataract, Portal fibrosis, Ascites, Limb dystonia, Acute hepatic failure, Splenomegaly,...	OMIM:277900
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Abnormality of thrombocytes, ...	OMIM:612840
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Vitreoretinochoroidopathy	Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin...	OMIM:193220
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Cockayne Syndrome	Gastroesophageal reflux, Decreased lacrimation, Malar rash, Anhidrosis, Alacrima, Cryptorchidism,...	ORPHA:191
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Impaired oral bolus formation, Impaired oropharyngeal swallow response, Decreased lacrimation, Ch...	ORPHA:404454
Morquio Syndrome C	Corneal opacity	OMIM:252300
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Microphthalmia, Cataract	ORPHA:1617
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Dystonia, Dysphagia, Choreoathetosis, Micropenis	OMIM:308350
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis, Chorioretinal coloboma, Iris coloboma	ORPHA:195
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Cockayne Syndrome B	Anhidrosis, Cryptorchidism, Decreased lacrimation	OMIM:133540
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Chronic hepatic failure,...	ORPHA:465508
Cockayne Syndrome A	Anhidrosis, Cryptorchidism, Decreased lacrimation	OMIM:216400
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacem...	ORPHA:3378
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Harel-Yoon Syndrome	Optic atrophy, Developmental cataract, Dystonia, Corneal opacity	OMIM:617183
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgA level...	OMIM:619752
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ...	ORPHA:650
Refsum Disease	Microphthalmia, Retinopathy, Abnormality of retinal pigmentation, Splenomegaly, Cataract, Renal i...	ORPHA:773
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	OMIM:616100
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Macular cotton wool spot...	ORPHA:411527
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate...	OMIM:607015
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hepatic failure	ORPHA:75234
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Retinal thinning, Macular dots, Astigmatism, Macular deg...	OMIM:270200
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Decreased testicular size, Renal h...	ORPHA:85284
Free Sialic Acid Storage Disease	Hepatomegaly, Athetosis, Ascites, Nephrotic syndrome, Iris hypopigmentation, Splenomegaly, Protei...	ORPHA:834
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Retinal dysplasia	ORPHA:324416
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Decreased lacrimation, Adrenocorticotropic...	ORPHA:293987
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic diarrhea, Cryptorchidism, Alacrima, Chronic constipation	OMIM:619005
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Cataract, Testicular atrophy	OMIM:160900
Immunodeficiency 10	Increased circulating IgG3 level, Increased circulating IgA level, Decreased circulating IgG leve...	OMIM:612783
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Congenital Disorder Of Glycosylation, Type Iij	Irritability, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, S...	OMIM:613489
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Johanson-Blizzard Syndrome	Edema, Lacrimation abnormality, Exocrine pancreatic insufficiency	ORPHA:2315
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Alacrima, Esophagitis	OMIM:615356
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Mucopolysaccharidosis Type 3	Hyperactivity, Corneal opacity, Splenomegaly, Dysphagia, Adenoiditis, Cardiomegaly, Hypersexualit...	ORPHA:581
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Adrenal insufficiency, Splenomegaly, Adren...	ORPHA:75233
Epithelial Recurrent Erosion Dystrophy	Epiphora, Keratoconjunctivitis sicca	ORPHA:293381
Farber Lipogranulomatosis	Irritability, Lipogranulomatosis, Hepatomegaly, Cherry red spot of the macula, Splenomegaly	OMIM:228000
8P11.2 Deletion Syndrome	Retinal dystrophy, Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, Abnormality of t...	ORPHA:251066
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased circulating total IgA, Increased circulating antibody ...	ORPHA:169160
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut...	ORPHA:3261
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation, Hyperhidrosis, Keratoconjunctivitis sicca	OMIM:133020
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st...	OMIM:612526
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:615577
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Hyaloid vascular remnant and retrolental mass, Microcornea, Corneal opacity, Pers...	ORPHA:91495
Gaucher Disease	Delayed puberty, Corneal opacity, Retinopathy, Leukopenia, Splenomegaly, Dysphagia, Pancytopenia,...	ORPHA:355
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Alacrima, Polyhydramnios	OMIM:618548
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:610023
Yao Syndrome	Diarrhea, Xerostomia, Skin rash, Arthritis, Pericarditis, Inflammatory abnormality of the skin, K...	OMIM:617321
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He...	OMIM:606003
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Microphthalmia, Syndromic 8	Microcornea, Cryptorchidism, Microphthalmia	OMIM:601349
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Ambiguous genitalia	OMIM:613885
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Opisthotonus, Dystonia, Dysphagia, Self-...	OMIM:300322
Hurler Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tonsils, Hepatosplen...	OMIM:607014
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Astigmatism, Microphthalmia, Optic nerve h...	OMIM:609053
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S...	ORPHA:79477
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Muckle-Wells Syndrome	Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Nephrotic syndrome, Splenomegaly, Conjuncti...	ORPHA:575
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Micro Syndrome	Optic atrophy, Delayed puberty, Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic lab...	ORPHA:2510
Microphthalmia, Syndromic 5	Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, C...	OMIM:610125
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Congenital Disorder Of Deglycosylation 1	Oral-pharyngeal dysphagia, Anhidrosis, Impaired oral bolus formation, Impaired oropharyngeal swal...	OMIM:615273
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Ocular albinism, Tremor, Iris ...	OMIM:214500
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ...	OMIM:120200
Warburg Micro Syndrome 4	Optic atrophy, Microphthalmia, Microcornea, Decreased testicular size, Developmental cataract, Sm...	OMIM:615663
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level	OMIM:215250
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Epiphora	ORPHA:98957
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Retinal degeneration, Splenomegaly, Chronic kidney d...	OMIM:615630
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Retinal nonattachmen...	OMIM:221900
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Hepatomegaly, Emotional lability, Tremor, Decreased testicular size, Splenomegaly, ...	OMIM:201100
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Cataract, Cryptorchidism	ORPHA:1867
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Pelvic kidney, Ves...	OMIM:603467
Warburg Micro Syndrome 3	Optic atrophy, Microphthalmia, Microcornea, Hypoplastic labia minora, Cataract, Decreased testicu...	OMIM:614222
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Immunodeficiency 92	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal B cell proliferation, ...	OMIM:619652
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Mcleod Syndrome	Hepatomegaly, Depression, Compulsive behaviors, Elevated circulating alanine aminotransferase con...	OMIM:300842
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Retinal detachment, M...	OMIM:612109
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen...	OMIM:620005
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Papillorenal Syndrome	Microphthalmia, Stage 5 chronic kidney disease, Lens luxation, Macular degeneration, Chorioretina...	OMIM:120330
Adiposis Dolorosa	Diarrhea, Arthritis, Hypothyroidism, Constipation, Recurrent skin infections, Autoimmunity, Xeros...	ORPHA:36397
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Lowry-Maclean Syndrome	Developmental glaucoma, Hypospadias, Corneal opacity, Abnormality of the abdominal organs, Bilate...	ORPHA:2409
Mucopolysaccharidosis Type 7	Corneal opacity, Ascites, Mucopolysacchariduria, Splenomegaly, Hepatitis	ORPHA:584
Galactosialidosis	Visceromegaly, Conjunctival telangiectasia, Hepatosplenomegaly, Cherry red spot of the macula, Op...	OMIM:256540
Aplasia Of Lacrimal And Salivary Glands	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Xerostomia	OMIM:180920
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ...	OMIM:212550
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:600901
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Iris hypopigmentat...	ORPHA:381
Cone-Rod Dystrophy 10	Epiphora	OMIM:610283
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Fanconi Anemia, Complementation Group A	Microphthalmia, Male infertility, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hyperg...	OMIM:227650
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Developmental cataract, Lymphopeni...	OMIM:616395
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula...	OMIM:133780
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Hypothyroid...	ORPHA:349
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal ...	ORPHA:264580
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Epiphora	OMIM:167730
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	OMIM:615758
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Corneal o...	OMIM:608940
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac...	OMIM:603585
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia...	OMIM:614866
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme...	ORPHA:83461
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Impotence, Exaggerated startle response, Increased urinary N-...	OMIM:268800
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Leukocytosis, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse ...	ORPHA:64744
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, C...	OMIM:208540
Cockayne Syndrome Type 3	Microphthalmia, Elevated circulating hepatic transaminase concentration, Retinal atrophy, Splenom...	ORPHA:90324
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia, Peters anomaly, Bilateral cryptorchidism	OMIM:618652
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria	OMIM:166300
Branchiootorenal Syndrome 1	Euthyroid goiter, Lacrimation abnormality, Lacrimal duct stenosis, Gustatory lacrimation	OMIM:113650
Thrombocytopenia 10	Decreased mean platelet volume, Menorrhagia, Thrombocytopenia	OMIM:620484
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Ab...	ORPHA:46059
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Catara...	ORPHA:284160
Microphthalmia, Lenz Type	Microphthalmia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, Chorioretinal coloboma, Op...	ORPHA:568
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Abnormality...	ORPHA:1451
Hurler Syndrome	Hepatomegaly, Depression, Abnormality of the tonsils, Corneal opacity, Mucopolysacchariduria, Ret...	ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia, Retinal dysplasia	OMIM:615665
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryp...	OMIM:614225
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Decreased fertility, Testicular atrophy, Dysphagia	OMIM:313200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level	OMIM:618042
Carcinoid Syndrome	Protracted diarrhea, Epiphora	ORPHA:100093
Antisynthetase Syndrome	Myocarditis, Keratoconjunctivitis sicca, Myositis, Arthritis, Skin rash, Dysphagia, Edema, Autoim...	ORPHA:81
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Sclerocornea, Cryptorchidism, Iri...	ORPHA:77298
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocy...	OMIM:227646
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Dystonia, Elevated urinar...	OMIM:614105
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract, Small scrotum, Micropenis	OMIM:610756
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria	OMIM:619053
Hyperostosis Cranialis Interna	Epiphora	OMIM:144755
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:612782
Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Pancreatic lymphangiect...	ORPHA:1655
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Macular atrophy, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Tangier Disease	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Eales Disease	Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters...	ORPHA:40923
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:227645
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Ambiguous genitalia, Microphthalmia	ORPHA:93267
Eec Syndrome	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Inflammatory abn...	ORPHA:1896
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Waardenburg Syndrome Type 1	Lacrimation abnormality	ORPHA:894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Developmental cataract, Retinal dystrophy	OMIM:613155
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Peters anomaly, Retinal dysplasia, Retinal detachment, Optic nerve...	OMIM:236670
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco...	OMIM:615145
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Tangier Disease	Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepato...	ORPHA:31150
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Splenomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Aggr...	OMIM:252920
Mucoepithelial Dysplasia, Hereditary	Melena, Epiphora, Chronic diarrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recu...	OMIM:158310
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Microphthalmia, Astigmatism	OMIM:619694
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Microcornea, Retinopathy, Abnormal scrotum morphology, Small scrotum...	ORPHA:2505
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia	OMIM:602501
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Astig...	OMIM:242900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Sanjad-Sakati Syndrome	Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Corneal opac...	ORPHA:2323
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Developmental glauc...	OMIM:610199
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut...	OMIM:600802
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Renal hypoplasia, Hydronephrosis, Dysphagia, Cryptorch...	OMIM:618494
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Abnormal temper tantrums, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Cor...	ORPHA:2072
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma, Iris coloboma	ORPHA:1777
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia, Retinal detachment	OMIM:615181
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Microcornea, Cli...	OMIM:147791
Eisenmenger Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular v...	ORPHA:97214
Cone-Rod Dystrophy 8	Epiphora	OMIM:605549
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Acrocraniofacial Dysostosis	Lacrimation abnormality	ORPHA:949
Cryoglobulinemic Vasculitis	Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Decreased circulating IgG level, ...	ORPHA:276
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Stiff-Person Syndrome	Anemia, Depression, Exaggerated startle response, Opisthotonus, Diabetes mellitus	OMIM:184850
Mucopolysaccharidosis Type 1	Optic atrophy, Abnormality of the tonsils, Corneal opacity, Mucopolysacchariduria, Retinopathy, S...	ORPHA:579
Autoimmune Polyendocrinopathy Type 3	Keratoconjunctivitis sicca, Antiphospholipid antibody positivity, Tubulointerstitial nephritis, A...	ORPHA:227982
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Impulsivity, Renal hypoplasia, Lens coloboma, Motor stereotypy, Self-injurious be...	OMIM:618914
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Thyroiditis, Punctate kera...	OMIM:617388
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Cherry red spot of the macula, Exaggerated startle response	ORPHA:309155
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia, Anemia, Bone marrow hypocellularity	OMIM:617244
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Ambiguous genitalia, male, Partial development of the penile shaft, Exaggerated startle response,...	OMIM:608800
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cry...	ORPHA:3301
Mucopolysaccharidosis Type 2	Optic atrophy, Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Corneal opacity, Impulsivit...	ORPHA:580
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Abnormal fear-induced behavior, Increased urinary porphobilinogen, Purple urine, Depre...	ORPHA:100924
Lissencephaly 8	Cataract, Microphthalmia, Optic atrophy	OMIM:617255
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Retinal dystrophy, Microcornea, Remnants of the hyaloid vas...	ORPHA:231736
Temtamy Syndrome	Microphthalmia, Lens luxation, Ectopia lentis, Chorioretinal coloboma, Self-mutilation, Iris colo...	OMIM:218340
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Norrie Disease	Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Corneal op...	ORPHA:649
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Baraitser-Winter Syndrome 1	Microphthalmia, Chorioretinal coloboma, Cryptorchidism, Micropenis, Iris coloboma	OMIM:243310
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Meg...	ORPHA:137675
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, D...	ORPHA:79083
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Leukopenia, Congenital hepatic fibrosis,...	ORPHA:974
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Autoimmune Polyendocrinopathy Type 4	Antiphospholipid antibody positivity, Xerostomia, Tubulointerstitial nephritis, Anterior pituitar...	ORPHA:227990
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Tremor, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Microphthalmia, Retinal detachment, Retinal vascular prolifera...	ORPHA:464
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia	OMIM:619693
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Att...	OMIM:617914
Fabry Disease	Anorexia, Optic atrophy, Delayed puberty, Cornea verticillata, Hematuria, Anemia, Diabetes insipi...	ORPHA:324
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Hemophagocytic Lymphohistiocytosis, Familial, 2	Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, El...	OMIM:603553
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Dysphagia, Splenomegaly, Rod-cone dystrophy, Heparan sulfate excreti...	OMIM:252930
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia, Cryptorchidism	OMIM:214150
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Waardenburg Syndrome	Lacrimation abnormality, Intestinal obstruction	ORPHA:3440
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia, Retinal detachment	ORPHA:627
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Moebius Syndrome	Microphthalmia, Decreased testicular size, Dysphagia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal ...	ORPHA:449432
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Agitation, Bilateral microphthalmos, Hyperactivity, Restlessn...	ORPHA:369891
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Carpenter Syndrome 1	Optic atrophy, External genital hypoplasia, Hydroureter, Microcornea, Precocious puberty, Hydrone...	OMIM:201000
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Abnormal vitreous humor morphology, Hypospadias...	ORPHA:2556
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Urinary glycosa...	OMIM:253220
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis	ORPHA:2547
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia	OMIM:209920
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Irritability, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Panc...	OMIM:259720
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism, Developmental cataract, Sple...	OMIM:618440
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia, Type II diabetes mellitus	ORPHA:3191
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:619767
Schinzel-Giedion Syndrome	Annular pancreas, Central hypothyroidism, Recurrent pneumonia, Dysphagia, Alacrima, Streak ovary	ORPHA:798
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Unilateral renal agenesis, Hypospadias, Retinal detachment, Pelvic kidney, Corneal o...	ORPHA:464311
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Lacrimation abnormality	ORPHA:2916
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Iris hypopigmentation, Cataract	ORPHA:85194
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidi...	OMIM:269200
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperplasia, Limbal derm...	ORPHA:2969
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgA level	OMIM:618282
Hemophagocytic Lymphohistiocytosis, Familial, 1	Irritability, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Sple...	OMIM:267700
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Lacrimal gland aplasia, Aplasia of the parotid gland, Lacrimal gland hyp...	OMIM:149730
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Elevated circulating parathyroid hormone level, Hepatomegaly, Anemia, Hyper...	OMIM:239200
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Microphthalmia, Abnormality iris morphology, Optic nerve hypoplasia, Retinal detac...	ORPHA:370959
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Lambert-Eaton Myasthenic Syndrome	Calcium channel antibody positivity, Xerostomia, Hypohidrosis, Constipation, Keratoconjunctivitis...	ORPHA:43393
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,...	OMIM:175780
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Microphthalmia, Retinal atrophy, Corneal opacity, Cone/cone-rod dystrophy, Abno...	ORPHA:85167
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermo...	OMIM:613001
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Hypoplastic labi...	ORPHA:495875
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Adrenal hypopla...	OMIM:214100
Kapur-Toriello Syndrome	Microphthalmia, Hypoplastic labia majora, Retinal coloboma, Cataract, Cryptorchidism, Micropenis,...	OMIM:244300
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Dyston...	OMIM:257220
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Bicornuate uterus, ...	OMIM:601186
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Decreased circulating IgA level	OMIM:242860
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Dyskeratosis Congenita, Autosomal Recessive 6	Epiphora	OMIM:616353
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Corneal opacity, Bicornuate uterus, Hydroneph...	ORPHA:2059
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Chondroitin sulfate excretion ...	OMIM:253010
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Immunodeficiency By Defective Expression Of Mhc Class Ii	Panhypogammaglobulinemia, Decreased circulating antibody level, Lack of T cell function, Abnormal...	ORPHA:572
Myoclonic-Astatic Epilepsy	Abnormal emotion, Microphthalmia, Hyperactivity, Tremor, Attention deficit hyperactivity disorder	ORPHA:1942
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu...	ORPHA:35078
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Retinal detachment, Cataract, Hypopigmentation of the fundus, Oligosacchariduria	ORPHA:163649
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:90362
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Gastritis, Keratoconjunctivitis sicca, Gastroesophageal...	ORPHA:809
Bartsocas-Papas Syndrome	Ambiguous genitalia, Hypoplastic male external genitalia, Popliteal pterygium, Corneal opacity	ORPHA:1234
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Reynolds Syndrome	Keratoconjunctivitis sicca, Gastroesophageal reflux, Arthritis, Skin rash, Ascites, Dysphagia, In...	ORPHA:779
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney	OMIM:619318
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Autoinflammatory Disease, Systemic, With Vasculitis	Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Leukocytosis, Increased T cell c...	OMIM:620376
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i...	OMIM:187900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Sclerocornea, Cataract, Cryptorchidism, Micropenis, Pigmentary retinopathy	OMIM:614230
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Vitreous hemorrha...	OMIM:620185
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Dystonia, C...	ORPHA:309246
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Alpha-Mannosidosis, Infantile Form	Astigmatism, Pancytopenia, Depression, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosaccha...	ORPHA:309282
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal in...	ORPHA:731
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Splenomegaly, Abn...	ORPHA:33226
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia	OMIM:608885
Fanconi Anemia	Microphthalmia, Leukopenia, Hypogonadism, Astigmatism, Hypospadias, Azoospermia, Bicornuate uteru...	ORPHA:84
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Epiphora, Arthritis, Pleural effusi...	OMIM:181000
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Precocious puberty, Sclerocornea, Ectopia...	OMIM:615877
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Hydronephrosis, Cataract, Cryptorchidism	OMIM:620327
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:1794
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Hydronephro...	OMIM:612541
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:275350
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Astigmatism, Unilateral renal agenesis, Hypospadias, Hyperactivity, Pelvic kid...	ORPHA:464306
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Myositis, Thyroidi...	ORPHA:79078
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor	OMIM:300887
Kapur-Toriello Syndrome	Microphthalmia, Hypoplastic labia majora, Hypoplasia of penis, Retinal coloboma, Iris coloboma	ORPHA:2328
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:617591
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Unilateral renal agenesis, Aniridia	ORPHA:1064
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Postorgasmic Illness Syndrome	Hyperhidrosis, Xerostomia	ORPHA:279947
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Corneal opacity, Conjunctival hyperemia, Cataract	ORPHA:2399
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of the uterus, Leukocytosis, Corneal...	OMIM:274000
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Focal Dermal Hypoplasia	Microphthalmia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Hydronephrosis, Acute he...	ORPHA:2092
Dyskeratosis Congenita, Autosomal Recessive 1	Pterygium, Epiphora, Nasolacrimal duct obstruction	OMIM:224230
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomega...	OMIM:263700
Oculocerebrocutaneous Syndrome	Cryptorchidism, Corneal opacity, Iris coloboma	ORPHA:1647
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:620040
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Corneal opacity, Ascites, Vaginal neoplasm, Hypothyroidism, Acute lymphoblastic l...	ORPHA:1052
Otodental Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopat...	OMIM:602782
Incontinentia Pigmenti	Optic atrophy, Breast hypoplasia, Microphthalmia, Breast aplasia, Retinal detachment, Retinal vas...	OMIM:308300
22Q11.2 Deletion Syndrome	Corneal neovascularization, Microphthalmia, Multiple renal cysts, Splenomegaly, Optic atrophy, Hy...	ORPHA:567
3Mc Syndrome 3	Penoscrotal hypospadias, Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Horseshoe ki...	OMIM:248340
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone ...	OMIM:614083
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Resting tremor, Depression, Secondary amenorrhea, Hypergonadotro...	OMIM:157640
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Opacifica...	ORPHA:1692
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic ...	OMIM:269700
Intestinal Botulism	Diarrhea, Dysphagia, Xerostomia	ORPHA:178481
Cohen Syndrome	Optic atrophy, Delayed puberty, Microphthalmia, Neutropenia, Abnormality of retinal pigmentation,...	ORPHA:193
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Splenomegaly, Cardiomegaly, Opacification of the corneal stroma	OMIM:231005
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Sclerocornea, Micropenis, ...	OMIM:309801
Prune Belly Syndrome	Cryptorchidism, Oligohydramnios, Xerostomia	OMIM:100100
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo...	OMIM:276700
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Hyperactivity, Megalocornea, Hypoplasia of the iris...	OMIM:223370
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Microcornea, Hydronephrosis, Developmental cataract,...	ORPHA:464738
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro...	ORPHA:1775
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Ocular albinism, Impaired ADP-induced platelet aggr...	OMIM:608233
Stüve-Wiedemann Syndrome	Hypohidrosis, Hypothyroidism, Hyperhidrosis, Lacrimation abnormality, Oligohydramnios, Ectopic th...	ORPHA:3206
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Decreased circulating IgA level, Decreased specific anti-polysac...	OMIM:606367
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611134
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Frontonasal Dysplasia 1	Cataract, Microphthalmia	OMIM:136760
Marden-Walker Syndrome	Microphthalmia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Corneal opacity, Dermatan sulfate excretion in urine, Retinopathy, Abnormal foveal...	ORPHA:217085
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Holoprosencephaly	Optic atrophy, Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Diabe...	ORPHA:2162
Frontofacionasal Dysplasia	Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma	ORPHA:1791
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Attention deficit hyperactivity disorder, Microphthalmia, Cryptorchidism, Compulsive behaviors	ORPHA:404440
Adams-Oliver Syndrome 2	Optic atrophy, Microphthalmia, Developmental cataract	OMIM:614219
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Anemia, Retinal calcification, Papilledema, Developmental cat...	OMIM:127000
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Neutropenia, Dystonia, Splenomegaly, Ocular albinism	OMIM:617050
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Depression, Attention deficit hyperactivity disorder, Cataract, Hors...	ORPHA:65286
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Q Fever	Anorexia, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Elevated circulating hepatic transami...	ORPHA:781
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Hypoplasia of the thymus, Attention deficit hy...	OMIM:188400
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Microco...	OMIM:609049
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Corneal opacity, Dermatan sulfate excretion in urine, Retinopathy, Abnormal foveal...	ORPHA:217093
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:606056
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Agammaglobulinemia, X-Linked	Decreased circulating IgE, Decreased circulating IgG level, Decreased circulating total IgM, Agam...	OMIM:300755
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Self-injurious behavior, Corneal opacity	OMIM:620469
Cystinosis, Nephropathic	Recurrent corneal erosions, Polydipsia, Delayed puberty, Generalized aminoaciduria, Primary hypot...	OMIM:219800
Mosaic Trisomy 8	Vesicoureteral reflux, Corneal opacity, Decreased testicular size, Hydronephrosis, Cryptorchidism	ORPHA:96061
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra...	OMIM:615688
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Hyperactivity, Bifid scrotum, Left ventri...	OMIM:619148
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Polycys...	OMIM:249000
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Opacification of the corneal stroma, Splenomegaly	ORPHA:583
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Hyperphosphaturia, Corneal opacity, Horseshoe kidney	OMIM:163200
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Irritability, Agitation, Hyperactivity, Exaggerated startle response, I...	OMIM:620423
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias, Microcornea, Hydronephrosis, Cataract	OMIM:616449
Oculofaciocardiodental Syndrome	Microphthalmia, Retinal detachment, Microcornea, Ectopia lentis, Cataract, Iris coloboma	ORPHA:2712
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Microphthalmia, Abnormally large globe, Retinal degeneration	OMIM:615249
1Q21.1 Microdeletion Syndrome	Microphthalmia, Depression, Vesicoureteral reflux, Attention deficit hyperactivity disorder, Hydr...	ORPHA:250989
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Abnormality o...	ORPHA:2538
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl...	OMIM:608643
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Martsolf Syndrome 1	Microphthalmia, Developmental cataract, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hy...	OMIM:212720
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Abnormal erythrocyte ...	ORPHA:2388
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Astigmatism, Anemia, Increased mean corpuscular hem...	ORPHA:33364
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine	OMIM:253200
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Arthritis, Dysphagia, Autoimmunity, Xerostomia	ORPHA:220393
Mucolipidosis Type Iii Alpha/Beta	Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity, Right ventricular hypert...	ORPHA:423461
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgG level, Decreased circulating total IgM, Increased circulating IgE level	OMIM:243700
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Hyperactivity, Depression, Self-injurious ...	OMIM:601853
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Exaggerated startle response, Hepatosplenomegal...	ORPHA:79255
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal at...	OMIM:273395
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased circulating antibody level, Decreased specific antibod...	ORPHA:221139
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Mucopolysacchariduria, Retinopathy, Hyperopic astigmatism, Opacification of the cor...	OMIM:252600
Joubert Syndrome 14	Optic atrophy, Irritability, Microphthalmia, Renal cyst, Morning glory anomaly	OMIM:614424
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:607143
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function	OMIM:614576
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Tongue thrusting	ORPHA:77299
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Decreased circulating para...	OMIM:241410
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Brucellosis	Anorexia, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Depression, Chorioretinitis, Leuk...	ORPHA:1304
Agammaglobulinemia 1, Autosomal Recessive	Agammaglobulinemia, Decreased circulating antibody level, Panhypogammaglobulinemia	OMIM:601495
Infant Botulism	Chronic otitis media, Keratoconjunctivitis sicca, Bowel incontinence, Constipation, Dysphagia, Xe...	ORPHA:178478
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Degcags Syndrome	Abnormal renal medulla morphology, Microphthalmia, Hepatomegaly, Anemia, Hypospadias, Iron defici...	OMIM:619488
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:79330
Monosomy 18P	Generalized dystonia, Microphthalmia, Hypothyroidism	ORPHA:1598
De Barsy Syndrome	Athetosis, Corneal opacity, Abnormal fundus fluorescein angiography, Cataract, Cryptorchidism	ORPHA:2962
Iatrogenic Botulism	Constipation, Dysphagia, Xerostomia	ORPHA:254509
Kindler Epidermolysis Bullosa	Anemia, Phimosis, Corneal opacity, Conjunctivitis, Dysphagia, Urethral stricture, Neoplasm of the...	ORPHA:2908
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat...	ORPHA:2250
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Williams Syndrome	Hypoplasia of penis, Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, ...	ORPHA:904
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Cryptorchidism	ORPHA:2728
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Emotional lability, Corneal scarri...	OMIM:256800
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microphthalmia, Microcornea, Decreased fertility, Keratoconjunctivitis sicca	OMIM:234050
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Microcornea, Opacification of the corneal stroma, Cryptorchidism, Anterior chamber s...	OMIM:601499
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity, Unilateral renal agenesis	OMIM:616603
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Depression, A...	ORPHA:77293
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Exaggerated startle respons...	OMIM:253800
Treacher-Collins Syndrome	Microphthalmia, Abnormality of the adrenal glands, Rectovaginal fistula, Hypoplasia of penis, Thy...	ORPHA:861
Tay-Sachs Disease	Optic atrophy, Depression, Tremor, Exaggerated startle response, Precocious puberty, Dystonia, Ma...	ORPHA:845
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Vesicoureteral reflux, Hydronephrosis, Chorioretinal coloboma, H...	OMIM:115470
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Retinal dystrophy, Hypoplastic male external genitalia, Renal c...	OMIM:608091
Smith-Lemli-Opitz Syndrome	Optic atrophy, Clitoral hypertrophy, Abnormality of the gallbladder, Hypospadias, Hypoplasia of p...	ORPHA:818
Inhalational Botulism	Diarrhea, Xerostomia, Constipation	ORPHA:254504
Dyskeratosis Congenita, Autosomal Dominant 3	Gastrointestinal hemorrhage, Cryptorchidism, Epiphora	OMIM:613990
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Acute myeloid leukemi...	OMIM:610832
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Abnormal circulating follicle-stimulating hormone concentration, Anemia...	ORPHA:93325
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Corneal opacity, Bicor...	OMIM:219000
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Hypoplasia of the thymus, Renal hypoplasia, Ureteral a...	OMIM:617666
Aicardi-Goutieres Syndrome 7	Irritability, Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Hypothyroidism, ...	OMIM:615846
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Hypogonadism, Cataract, Pigmentary retinopathy	OMIM:610651
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephro...	OMIM:251300
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity, Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Dysphagia	OMIM:230900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:612301
Botulism	Diarrhea, Dysphagia, Xerostomia, Constipation	ORPHA:1267
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Corneal stromal e...	OMIM:601812
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation	ORPHA:66628
Neurofibromatosis Type 1	Delayed puberty, Abnormality of the endocrine system, Pheochromocytoma, Corneal opacity, Heteroch...	ORPHA:636
17Q12 Microduplication Syndrome	Self-injurious behavior, Microphthalmia	ORPHA:261272
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Retinal coloboma, Renal hypoplasia,...	OMIM:607323
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, Neurogenic bladder, Corneal opacity, Hypot...	ORPHA:488632
Stiff Person Spectrum Disorder	Emotional lability, Diabetes mellitus, Hypothyroidism, Exaggerated startle response	ORPHA:3198
Hypohidrotic Ectodermal Dysplasia	Inflammatory abnormality of the eye, Breast aplasia, Xerostomia, Eczematoid dermatitis, Hypohidro...	ORPHA:238468
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Compulsive behaviors, Attention deficit hyperactivity disorder, Supernumerary nip...	OMIM:620098
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Hydronephrosis, Ambiguous genitalia, Iri...	ORPHA:2839
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,...	OMIM:618213
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenom...	OMIM:617913
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Microphthalmia, Astigmatism, Retinal coloboma	OMIM:618571
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypoplastic nipples, Absent nipple, Anhidrosis, Rhinitis, Xerostomia	OMIM:614941
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hydroureter, Ectopic kidne...	OMIM:146510
Trisomy 18	Microphthalmia, Microcornea, Hydronephrosis, Abnormality of retinal pigmentation, Cataract, Crypt...	ORPHA:3380
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Iris transillumination defect, Microcornea, Microphthalmia	OMIM:617306
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Peters anomaly, Vesicoureteral refl...	OMIM:616975
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Abnormal optic disc morpholog...	ORPHA:508498
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation	ORPHA:179494
Sandestig-Stefanova Syndrome	Microphthalmia, Developmental cataract	OMIM:618804
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Foodborne Botulism	Diarrhea, Dysphagia, Xerostomia, Constipation	ORPHA:228371
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the...	OMIM:612582
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Axial dystonia, Depression, Low frustration tolerance, Bone-marrow foam c...	ORPHA:646
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Cataract, Abnormal optic nerve morph...	ORPHA:90340
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Depression, Ascites, Leukocytosis, Nephrotic syndrome, Nephrocalci...	ORPHA:342
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Accessory s...	OMIM:268300
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Hydronephrosis, Microphthalmia	ORPHA:35173
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic nerve hypoplasia, Corneal opacity, Megalocornea, Hypogonadi...	ORPHA:536471
Scheie Syndrome	Retinal degeneration, Corneal opacity	OMIM:607016
Hallermann-Streiff Syndrome	Microphthalmia, Hyperactivity, Chorioretinal coloboma, Optic disc coloboma, Choreoathetosis, Cata...	OMIM:234100
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism, Chorioretinal coloboma	OMIM:619135
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma	ORPHA:251038
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Crimean-Congo Hemorrhagic Fever	Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A...	ORPHA:99827
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, Microcornea, Zonular cataract, Hypogonadism, Cataract, Cryptorc...	OMIM:268400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal dystrophy, Retinal detach...	ORPHA:2526
Pseudotrisomy 13 Syndrome	Microphthalmia, Adrenal hypoplasia, Bicornuate uterus, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:264480
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Irritability, Exaggerated startle response	OMIM:616881
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Keratitis, Conjunctivitis, Cataract, Choreoathetosis,...	OMIM:278730
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Microcornea, Hypogonadism, Cataract, Keratoconjunctivitis sicca	OMIM:601675
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Ectopic kidney, Hypoplastic labia majora...	OMIM:263650
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Orchitis...	OMIM:249100
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Burning Mouth Syndrome	Xerostomia	ORPHA:353253
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, ...	ORPHA:3103
Lacrimoauriculodentodigital Syndrome	Abnormal salivary gland morphology, Lacrimal gland aplasia, Epiphora, Arthritis, Xerostomia, Kera...	ORPHA:2363
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Optic nerve hypoplasia, Exaggerated startle response	OMIM:617864
Charge Syndrome	Delayed puberty, Microphthalmia, Dysphagia, Lymphopenia, Decreased response to growth hormone sti...	OMIM:214800
Traboulsi Syndrome	Microphthalmia, Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow...	OMIM:601552
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Keratoconjunctivitis sicca, Oral-pharyngeal dysphagia, Diarrhea, S...	ORPHA:95455
Vacterl With Hydrocephalus	Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Microcornea, Abnormal optic ner...	ORPHA:3412
Al-Gazali Syndrome	Sclerocornea, Hydronephrosis, Corneal opacity	OMIM:609465
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Wolf-Hirschhorn Syndrome	Optic atrophy, Abnormality of the gallbladder, Hypospadias, Megalocornea, Retinopathy, Sclerocorn...	ORPHA:280
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Impotence, Aggressive behavior, Decrease...	ORPHA:273
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Microcornea, Vesicoureteral reflux, Bladder diverticulum, ...	ORPHA:959
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Dyskeratosis Congenita, X-Linked	Epiphora, Pterygium, Decreased testicular size, Blepharitis, Hyperhidrosis, Conjunctivitis, Crypt...	OMIM:305000
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Hematuria, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, P...	ORPHA:77261
Amoebiasis Due To Free-Living Amoebae	Vomiting, Nausea, Sinusitis, Pustule, Cerebral edema, Conjunctival hyperemia, Increased tear prod...	ORPHA:68
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Kikuchi-Fujimoto Disease	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circula...	ORPHA:50918
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Premature ovarian insufficiency, Microcornea, Female infertility, Amenorrhea, Inc...	OMIM:110100
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, T...	OMIM:222700
Charge Syndrome	Polyhydramnios, Gastroesophageal reflux, Anterior hypopituitarism, Dysphagia, Lacrimation abnorma...	ORPHA:138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy...	OMIM:614643
Wiedemann-Rautenstrauch Syndrome	Corneal opacity, Action tremor, Hepatic steatosis, Optic atrophy, Decreased response to growth ho...	ORPHA:3455
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia, Astigmatism, Ectopia pupillae, Cataract	OMIM:618727
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Anophthalmia, Renal cyst, Retinopathy, Dysphagia, Splenomegaly	OMIM:615636
Camurati-Engelmann Disease	Anorexia, Optic atrophy, Delayed puberty, Hepatomegaly, Anemia, Optic nerve compression, Leukopen...	ORPHA:1328
Aicardi Syndrome	Optic atrophy, Delayed puberty, Microphthalmia, Retinal detachment, Precocious puberty, Abnormali...	ORPHA:50
Mucopolysaccharidosis, Type Iva	Keratan sulfate excretion in urine, Chondroitin sulfate excretion in urine, Hepatomegaly, Opacifi...	OMIM:253000
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level	OMIM:613385
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Congenital hypothyroidism, Developmental c...	OMIM:606519
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o...	OMIM:208900
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Microphthalmia, Motor stereotypy	ORPHA:435638
Chime Syndrome	Acute leukemia, Hydronephrosis, Corneal opacity, Retinal coloboma	ORPHA:3474
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia, Retinal dystrophy	OMIM:616538
Moebius Syndrome	Corneal opacity, Hypogonadotropic hypogonadism, Dysphagia, Breast aplasia	ORPHA:570
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Iris coloboma, Hypospadias, Macroorchidism	OMIM:618874
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital...	OMIM:620186
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia	OMIM:302350
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic atrophy, Optic disc pallor, Exaggerated startle response	OMIM:609541
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Diarrhea, Hematochezia, Vomiting, Xerostomia	OMIM:175500
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla...	OMIM:619991
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Retinal coloboma, Iris coloboma	OMIM:184705
Phace Syndrome	Microphthalmia, Retinal vascular malformation, Optic nerve hypoplasia, Heterochromia iridis, Hypo...	ORPHA:42775
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis, Lipemia retinalis	OMIM:615947
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cataract, Cryptorchidism, Micropenis, Hypogonado...	OMIM:603457
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Corneal opacity	ORPHA:582
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Optic disc pallor, Exaggerated startle response	ORPHA:320406
Tyrosinemia Type 2	Tremor, Corneal opacity	ORPHA:28378
Peters Plus Syndrome	Optic atrophy, Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitar...	ORPHA:709
Hyperekplexia 2	Astigmatism, Exaggerated startle response	OMIM:614619
Immunodeficiency 58	Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re...	OMIM:618131
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating total IgM, Decreased circulating antibody...	ORPHA:90363
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Microcornea, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Cataract, Precocious puberty, Chorioretinal la...	OMIM:304050
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Peters anomaly	OMIM:614526
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:508533
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level...	ORPHA:183675
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:210900
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane	OMIM:257850
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, O...	OMIM:252500
Hallermann-Streiff Syndrome	Microphthalmia, Hypothyroidism, Developmental cataract, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Agitation, Exaggerated startle response	OMIM:618056
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
2Q31.1 Microdeletion Syndrome	Microphthalmia, Abnormality of the hypothalamus-pituitary axis, Optic disc coloboma, Cryptorchidi...	ORPHA:251014
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis	OMIM:238600
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
African Trypanosomiasis	Urinary incontinence, Abnormality of the endocrine system, Optic neuritis, Impotence, Abnormal gr...	ORPHA:3385
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Abnormality of the endocrine system, Vesicoureteral reflux, Nephrolithiasis, Exaggerated ...	ORPHA:438213
Frontorhiny	Microphthalmia, Diabetes insipidus, Cataract, Hypopituitarism, Iris coloboma	ORPHA:391474
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Hypoplastic nipples, Microphthalmia	OMIM:156610
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Optic nerve hypo...	ORPHA:468631
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	ORPHA:420741
Monosomy 9Q22.3	Microphthalmia, Hyperactivity, Ovarian fibroma, Retinopathy, Cataract	ORPHA:77301
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Dense posterior cortical cataract, Microphthalm...	OMIM:309000
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology,...	ORPHA:857
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Abnormal female external genitalia morphology, Corneal erosion, Hypoplasia of ...	ORPHA:920
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Nephrolithiasis, Oligomenorrhea, Pituitary ad...	OMIM:219090
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ...	OMIM:617062
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Microphthalmia, Hydronephrosis	OMIM:302960
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Lipodystrophy, Congenital Generalized, Type 4	Decreased circulating IgA level	OMIM:613327
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia, Sclerocornea	OMIM:300952
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Retinal dystrophy, Microcornea, Adrenal h...	OMIM:607932
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Retinal detachment, Microcornea, Remnants of the hyalo...	OMIM:300166
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Hypospadias, Torticollis, Bifid scrotum, Clitoral hypoplasia...	OMIM:609945
Oculoectodermal Syndrome	Astigmatism, Hyperactivity, Microcornea, Chorioretinal atrophy, Bladder exstrophy, Limbal dermoid...	OMIM:600268
Asparagine Synthetase Deficiency	Irritability, Optic nerve hypoplasia, Tremor, Exaggerated startle response	OMIM:615574
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Dysphagia, Exaggerated startle response	OMIM:617301
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level	OMIM:212750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Cataract, Buphthalmos, Peters anomaly	OMIM:613150
Bloom Syndrome	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ...	ORPHA:125
Xeroderma Pigmentosum	Optic atrophy, Pterygium, Decreased testicular size, Conjunctival telangiectasia, Keratitis, Hypo...	ORPHA:910
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Optic atrophy, Exaggerated startle response	OMIM:617281
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Mend Syndrome	Microphthalmia, Hyperactivity, Cataract, Cryptorchidism, Aggressive behavior	ORPHA:401973
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Retinoblastoma, Chorioretinal coloboma, Cryptorchidism, Mic...	OMIM:613884
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Primary Sjögren Syndrome	Keratoconjunctivitis sicca, Arteritis, Chronic active hepatitis, Myositis, Thyroiditis, Parotitis...	ORPHA:289390
Selective Igm Deficiency	Decreased circulating total IgM, Decreased specific antibody response to vaccination, Paraprotein...	ORPHA:331235
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Tay-Sachs Disease	Cherry red spot of the macula, Exaggerated startle response	OMIM:272800
T-Cell Immunodeficiency With Thymic Aplasia	Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen	ORPHA:83471
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal atrophy, Megalocornea, Hyp...	OMIM:253280
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosi...	ORPHA:3472
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Microcornea, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Optic atrophy, Dysphagia, Exaggerated startle response, Congenital hypothyroidism	OMIM:617527
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Bifid scrotum, Iris atrophy, Ectopia pupillae, Dysphagia, D...	ORPHA:261552
Plaa-Associated Neurodevelopmental Disorder	Optic atrophy, Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response	ORPHA:521426
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Mycophenolate Mofetil Embryopathy	Chorioretinal coloboma, Microphthalmia, Ectopic kidney, Iris coloboma	ORPHA:268249
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Ocular albinism	ORPHA:1352
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Hyperactivity, Vesicoureteral re...	ORPHA:353281
Larsen Syndrome	Cryptorchidism, Corneal opacity	OMIM:150250
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Bifid scrotum, Dysphagia, Septate vagina, Bruxism, Astigmat...	ORPHA:261537
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Osteogenesis Imperfecta	Hypercalciuria, Corneal opacity, Nephrolithiasis, Thrombocytopenia, Dysphagia	ORPHA:666
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Combined Oxidative Phosphorylation Deficiency 58	Optic atrophy, Exaggerated startle response, Lacticaciduria	OMIM:620451
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Hydroureter, Corneal erosion, Corneal opacity, Hydronephrosis, Keratitis, Conjunctiv...	ORPHA:2273
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, H...	OMIM:305600
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Basal Cell Nevus Syndrome 1	Microphthalmia, Ovarian fibroma, Cataract, Ovarian carcinoma, Iris coloboma	OMIM:109400
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Decreased T cell activation, Decreased circula...	OMIM:242840
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Bifid scrotum, Dysphagia, Septate vagina, Bruxism, Astigmat...	ORPHA:2152
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Imperforate hymen, Grade III vesicoureteral ref...	OMIM:619522
Encephalocraniocutaneous Lipomatosis	Retinopathy, Corneal opacity, Iris coloboma	ORPHA:2396
Limb Body Wall Complex	Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency,...	ORPHA:672
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Iris atrophy, Ab...	OMIM:259770
Spondyloepiphyseal Dysplasia, Maroteaux Type	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:184095
Microphthalmia With Limb Anomalies	Optic atrophy, Microphthalmia, True anophthalmia, Cryptorchidism, Horseshoe kidney	ORPHA:1106
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Conjunctivitis	OMIM:153400
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal hypoplasia, Cataract	OMIM:309500
Teebi-Shaltout Syndrome	Microphthalmia, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy	ORPHA:3063
Oculodentodigital Dysplasia	Cataract, Neurogenic bladder, Microphthalmia, Microcornea	OMIM:164200
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple, Iris coloboma	ORPHA:1236
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Retinal co...	OMIM:113620
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Conjunctival icterus, Primary hypothyroidism, Ascites, Urethrovaginal fistu...	OMIM:243800
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia, Iris coloboma	ORPHA:3186
Mucolipidosis Iii Gamma	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:252605
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Corneal opacity	OMIM:608670
Neuroocular Syndrome	Microphthalmia, Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Attention de...	OMIM:619539
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Aggressive behavior, Hypos...	OMIM:613406
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Microphthalmia, Iris atrophy	OMIM:201180
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Unilateral renal agenesis, Hyperactivity, Pelvic kidney, Low frustratio...	ORPHA:508488
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aggressive behavior, Hypospadias, Abnormal fear-induced behavior, Emotional lability, Hyperactivi...	ORPHA:353277
Fraser Syndrome	Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor...	ORPHA:2052
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Corneal opacity, Developmental cataract, Bladder diverticulum, Pyelone...	ORPHA:90348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Decreased testicular size, Hydronephrosis, Micropenis, ...	OMIM:615287
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Microcornea, Bifid scrotum, Ectopia pupillae, Chorioretinal coloboma...	OMIM:235730
Hutchinson-Gilford Progeria Syndrome	Corneal ulceration, Pubertal developmental failure in females, Hypoplastic male external genitali...	ORPHA:740
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Hydroureter, Hypospadias, Aggressive behavior, Anophthalmi...	OMIM:309800
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplastic nipples, Absent nipple, Left ventricular hypertrophy, Small scrotum, ...	OMIM:612289
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis, Abnormal preputium morphology, Abnorma...	ORPHA:2907
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia, Iris coloboma	ORPHA:2612
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Myhre Syndrome	Cataract, Microphthalmia, Cryptorchidism	OMIM:139210
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Decreased circulating total IgA, Decreased circulating total IgM...	OMIM:619381
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Nuclear pulverulent cataract, Sutural cataract, Tremor, Motor stereotypy, Catarac...	OMIM:612474
Neurocardiofaciodigital Syndrome	Cataract, Vesicoureteral reflux, Sclerocornea, Optic disc pallor	OMIM:619869
Chronic Graft Versus Host Disease	Keratoconjunctivitis sicca, Gastroesophageal reflux, Diarrhea, Arthritis, Pleural effusion, Ascit...	ORPHA:99921
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Monosomy 13Q14	Cataract, Retinoblastoma, Microphthalmia, Iris coloboma	ORPHA:1587
Frontofacionasal Dysplasia	Cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:229400
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma	OMIM:610828
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Neu-Laxova Syndrome 1	Microphthalmia, Pterygium, Bifid uterus, Cataract, Cryptorchidism	OMIM:256520
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Dysphagia, Exaggerated startle response	OMIM:618367
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM	ORPHA:83617
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Remnants of ...	OMIM:157170
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Unilateral renal agenesis, Hypospadias, K...	OMIM:308205
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia	ORPHA:306542
Holoprosencephaly 1	Microphthalmia, Adrenal hypoplasia, Micropenis, Diabetes insipidus	OMIM:236100
Yunis-Varon Syndrome	Irritability, Hypospadias, Hypoplastic nipples, Absent nipple, Sclerocornea, Cataract, Cryptorchi...	OMIM:216340
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism	OMIM:154500
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level	OMIM:619472
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210

Histopathology

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

There is no histopathology data for Id3

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 Id3.

No publications found that use IMPC mice or data for Id3.

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MGI Allele	Allele Type	Produced
Id3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Id3^{tm415703(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Id3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Id3^em1(IMPC)Mbp	Whole-gene deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Id3 MGI:96398

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Id3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data