Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal repetitive mannerisms |
ORPHA:411986 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... |
ORPHA:101096 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Cognitive impairment |
ORPHA:3378 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia, Abnormal spleen morphology |
ORPHA:2470 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depre... |
ORPHA:100924 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... |
ORPHA:276 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen |
OMIM:601186 |
Cockayne Syndrome Type 1 |
|
Anophthalmia, Anemia |
ORPHA:90321 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia, Dysphagia |
OMIM:615636 |
Holoprosencephaly |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia, Cognitive impairment |
ORPHA:2162 |
Fibular Hemimelia |
|
Anophthalmia, Thrombocytopenia |
ORPHA:93323 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Asplenia, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:564 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia |
OMIM:300755 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Leukemia, Anophthalmia |
ORPHA:2526 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Charge Syndrome |
|
Compulsive behaviors, Microphthalmia, Anophthalmia, Attention deficit hyperactivity disorder |
ORPHA:138 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Fraser Syndrome 1 |
|
Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos |
OMIM:219000 |
Charge Syndrome |
|
Anophthalmia, Self-mutilation, Unilateral microphthalmos, Dysphagia, Microphthalmia, Lymphopenia,... |
OMIM:214800 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Anorexia |
ORPHA:91500 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Focal Dermal Hypoplasia |
|
Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia |
OMIM:300166 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Ectopic thymus tissue, Anophthalmia |
OMIM:113620 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia, Self-mutilation, Aggressive behavior |
OMIM:309800 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353281 |
Craniofacial Microsomia 1 |
|
Microphthalmia, Anophthalmia |
OMIM:164210 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... |
ORPHA:353277 |