Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Hereditary Progressive Mucinous Histiocytosis |
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Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Immunodeficiency 15B |
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Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Adult Idiopathic Neutropenia |
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Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Reticuloendotheliosis, X-Linked |
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Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:600776 |
Immunodeficiency 91 And Hyperinflammation |
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Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia |
OMIM:615524 |
Immunodeficiency 75 With Lymphoproliferation |
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Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:164180 |
Immunodeficiency 21 |
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Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Kimura Disease |
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Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Meckel Syndrome, Type 8 |
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Microphthalmia, Anophthalmia |
OMIM:613885 |
Immunodeficiency 11A |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Immunodeficiency 32B |
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Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burst, Monocytopen... |
OMIM:226990 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia |
ORPHA:411986 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Matthew-Wood Syndrome |
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Anophthalmia, Microphthalmia, Abnormal spleen morphology |
ORPHA:2470 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Trisomy 13 |
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Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Anophthalmia Plus Syndrome |
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Anophthalmia |
ORPHA:1104 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Hydrolethalus |
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Microphthalmia, Anophthalmia |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Microphthalmia With Brain And Digit Anomalies |
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Microphthalmia, Anophthalmia |
ORPHA:139471 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Anophthalmia |
OMIM:147250 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:77298 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... |
ORPHA:276 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Anophthalmia |
OMIM:206920 |
Cockayne Syndrome Type 2 |
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Anophthalmia |
ORPHA:90322 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:248450 |
Walker-Warburg Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:899 |
Trisomy 1Q |
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Anophthalmia |
ORPHA:261344 |
Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen |
OMIM:601186 |
Purine Nucleoside Phosphorylase Deficiency |
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Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Cockayne Syndrome Type 1 |
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Anophthalmia, Anemia |
ORPHA:90321 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:615877 |
Fibular Hemimelia |
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Anophthalmia, Thrombocytopenia |
ORPHA:93323 |
Holoprosencephaly |
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Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2162 |
Microphthalmia, Syndromic 3 |
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Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Meckel Syndrome |
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Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Vacterl With Hydrocephalus |
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Microphthalmia, Anophthalmia |
ORPHA:3412 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
Joubert Syndrome 21 |
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Splenomegaly, Anophthalmia |
OMIM:615636 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Aniridia, Anophthalmia |
ORPHA:1101 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2250 |
Cerebrooculonasal Syndrome |
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Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Leukemia, Anophthalmia |
ORPHA:2526 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia |
OMIM:300755 |
Fraser Syndrome 1 |
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Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos |
OMIM:219000 |
Microphthalmia With Linear Skin Defects Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2556 |
Proboscis Lateralis |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Charge Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:138 |
Charge Syndrome |
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Anophthalmia, Unilateral microphthalmos, Microphthalmia, Lymphopenia, Aplasia/Hypoplasia of the t... |
OMIM:214800 |
Focal Dermal Hypoplasia |
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Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Microphthalmia, Syndromic 2 |
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Microphthalmia, Anophthalmia |
OMIM:300166 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, True anophthalmia |
ORPHA:1106 |
Fraser Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2052 |
Branchiooculofacial Syndrome |
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Microphthalmia, Ectopic thymus tissue, Anophthalmia |
OMIM:113620 |
Microphthalmia, Syndromic 6 |
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Microphthalmia, Anophthalmia |
OMIM:607932 |
Craniofacial Microsomia 1 |
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Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
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Microphthalmia, Anophthalmia |
OMIM:309800 |