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Gene: Lhx2 MGI:96785

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
LIM homeobox protein 2
Synonyms:
apterous,  LH2A,  Lh-2,  ap

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by Lhx2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Lhx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Preeclam... ORPHA:163596
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Fetal Parvovirus Syndrome
Hydrops fetalis, Anemia, Thrombocytopenia, Increased nuchal translucency, Ascites ORPHA:295
Transaldolase Deficiency
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Edema, Premature skin wrinkling, Anemia, Thromboc... ORPHA:101028
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... ORPHA:846
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Anemia, Thrombocytopenia, Premature birth, Ascites ORPHA:2123
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Microphthalmia, Agenesis o... ORPHA:139471
Sialidosis Type 2
Corneal opacity, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Hydrops fetalis, Pedal ... ORPHA:87876
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... OMIM:615631
Alg8-Cdg
Cutis laxa, Retinopathy, Oligohydramnios, Hydrops fetalis, Optic atrophy, Elevated hepatic transa... ORPHA:79325
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Congenital Hydrocephalus
Hydrocephalus, Optic atrophy, Iris coloboma, Macular hypoplasia, Colpocephaly ORPHA:2185
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma OMIM:613703
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Infantile Sialic Acid Storage Disease
Hydrocephalus, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Hydrops fetalis, Ascites, Prem... OMIM:269920
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Nonimmune... OMIM:266200
Retinohepatoendocrinologic Syndrome
Pallor, Optic disc pallor, Degenerative liver disease, Cone dystrophy OMIM:268040
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Walker-Warburg Syndrome
Corneal opacity, Hydrocephalus, Retinal detachment, Anophthalmia, Microcornea, Retinal dystrophy,... ORPHA:899
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Facial edema, Splenomegaly, Cherry red spot of the macula, ... OMIM:256550
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Manitoba Oculotrichoanal Syndrome
Abnormal hair morphology, Anophthalmia, Microphthalmia OMIM:248450
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Splenomegaly ORPHA:2204
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Mulibrey Nanism
Hepatomegaly, Hydrops fetalis, Pigmentary retinopathy, Astigmatism, Iris coloboma, Corneal dystro... OMIM:253250
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Peripheral Cone Dystrophy
Pallor, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Optic disc pallor OMIM:609021
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Agenesis of corpus callosum, Microphthalmia OMIM:164180
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... OMIM:224120
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Iris hypopigmentation, Skin ulcer, Ascites ORPHA:834
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Hydrops fetalis, Abnormality of the spleen, Neonatal death, Pancytope... ORPHA:85212
Cone-Rod Dystrophy 11
Macular degeneration, Pallor, Cone/cone-rod dystrophy, Macular atrophy, Bull's eye maculopathy OMIM:610381
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Leukopenia, Hydrops fetalis, Cholestasis, Abnormal macrophage morp... ORPHA:292
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Hepatomegaly, Abnormality of the amniotic fluid, Splenomegaly OMIM:608540
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Anophthalmia, Iris coloboma, Microphthalmia, Agenesis of corpus... ORPHA:77298
Retinitis Pigmentosa 27
Rod-cone dystrophy, Pallor, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atr... OMIM:613750
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Agenesis of corpus callosum, Coloboma OMIM:274270
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... ORPHA:848
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Retinitis Pigmentosa 42
Pallor, Rod-cone dystrophy OMIM:612943
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Hydrops fetalis, Fetal akinesia sequence, Developmental cataract OMIM:618815
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Fanconi Anemia, Complementation Group G
Microphthalmia, Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Anencephaly 2
Anophthalmia OMIM:619452
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Trisomy 13
Abnormal retinal vascular morphology, Hydrops fetalis, Anophthalmia, Optic atrophy, Iris coloboma... ORPHA:3378
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Portal hypertens... OMIM:232500
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... OMIM:557000
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... ORPHA:824
Retinitis Pigmentosa 60
Pallor, Rod-cone dystrophy OMIM:613983
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Hydrolethalus
Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Arrhinencephaly, Anophthalmia, Polyhydra... ORPHA:2189
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poi... ORPHA:288
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Low anterior hairline, Thick eyebrow, Anophthalmia, Long eyelashes, Synophrys ORPHA:411986
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Macular hypoplasia, Opacification... ORPHA:2334
Leishmaniasis
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... ORPHA:507
Klippel-Trénaunay Syndrome
Hepatomegaly, Hydrops fetalis, Microcytic anemia, Edema, Ascites ORPHA:90308
Farber Disease
Joint swelling, Corneal opacity, Macular degeneration, Hepatic failure, Cherry red spot of the ma... ORPHA:333
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pleural effusion, Ascites ORPHA:2414
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... OMIM:231100
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema, Keratoconus, Cataract, Conjunctivitis OMIM:603165
Coach Syndrome 2
Hydrocephalus, Congenital hepatic fibrosis, Coloboma, Elevated hepatic transaminase, Hepatic fibr... OMIM:619111
Optic Atrophy 9
Pallor, Optic atrophy OMIM:616289
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Trisomy 1Q
Hydrocephalus, Hydrops fetalis, Anophthalmia, Agenesis of corpus callosum, Polyhydramnios, Increa... ORPHA:261344
Fanconi Anemia, Complementation Group I
Microphthalmia, Pallor, Optic nerve hypoplasia, Astigmatism, Neutropenia, Colpocephaly, Agenesis ... OMIM:609053
Retinitis Pigmentosa 70
Pallor, Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Decreased liv... ORPHA:231222
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Foveal hyperpigmentation, Optic... OMIM:609218
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalm... ORPHA:324416
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Pallor, Retinal dystrophy, Optic atrophy, Thrombocytopenia ORPHA:49827
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:616738
Nephronophthisis
Anemia ORPHA:655
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... OMIM:600462
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Achondrogenesis, Type Ib
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth, Breech presentation OMIM:600972
Congenital Toxoplasmosis
Hydrocephalus, Abnormality of retinal pigmentation, Hepatomegaly, Elevated hepatic transaminase, ... ORPHA:858
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract, Neonatal death OMIM:273680
Oculotrichoanal Syndrome
Abnormal hair pattern, Anophthalmia, Microphthalmia ORPHA:2717
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Anemia, Hydrops fetalis, Single umbilical artery ORPHA:3405
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microcornea, Retinal dystrophy, Coloboma, Cataract, Microph... OMIM:610125
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophi... ORPHA:3226
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth OMIM:215045
Indomethacin Embryofetopathy
Oligohydramnios, Hydrops fetalis, Premature birth ORPHA:1909
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Coloboma, Cyclopia, Microphthalmia OMIM:147250
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Pallor, Anisocytosis,... OMIM:616959
Cardiomyopathy, Familial Restrictive, 6
Hydrops fetalis, Hepatomegaly, Ascites OMIM:619433
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Fumarase Deficiency
Hepatic failure, Polycythemia, Pallor, Cholestasis, Optic atrophy, Agenesis of corpus callosum OMIM:606812
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Dry skin, Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, ... OMIM:612379
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Nonimmune hydrops fet... OMIM:608013
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Macular dystrophy, Aplasia/Hypoplasia of the macula, Abnormality of the optic nerve ORPHA:33445
Auditory Neuropathy And Optic Atrophy
Pallor, Optic atrophy, Rod-cone dystrophy OMIM:617717
Anophthalmia Plus Syndrome
Iris coloboma, Spina bifida, Anophthalmia ORPHA:1104
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Corneal opacity, Hydrocephalus, Retinal detachment, Coloboma, Cataract, Microphthalmia, Agenesis ... OMIM:613153
Leber Congenital Amaurosis 14
Pallor, Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Anemia, Pericardial ... OMIM:617300
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Optic nerve hypoplasia, Anophthalmia, Coloboma, Cataract, Microphthalmia,... OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Hydrocephalus, Retinal degeneration, Buphthalmos, Pallor, Megalocornea,... OMIM:253280
Optic Atrophy 1
Pallor, Optic atrophy OMIM:165500
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Hydrops fetalis, Iris coloboma, Microphthalmia, Agenesis of corpus callosum, Chori... ORPHA:268249
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Redundant neck skin OMIM:619003
Persistent Placoid Maculopathy
Abnormal macular morphology, Choroidal neovascularization, Retinal pigment epithelial mottling, H... ORPHA:97341
Retinitis Pigmentosa 81
Pallor OMIM:617871
Srd5A3-Cdg
Rod-cone dystrophy, Coloboma, Optic atrophy, Elevated hepatic transaminase, Microcytic anemia, Ca... ORPHA:324737
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Blue irides, Macular hypoplasia OMIM:606574
Meckel Syndrome
Hydrocephalus, Pancreatic fibrosis, Oligohydramnios, Accessory spleen, Sclerocornea, Microcornea,... ORPHA:564
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Iris coloboma, Macular hypoplasia, Colpocephaly OMIM:615219
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Microphthalmia, Chylothorax, Retinopathy, Retinal detachment... ORPHA:2526
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:932
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Anemia, Premature birth OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Nonimmune hydrops fetalis, Neonatal death, Anemia, Premature birth OMIM:618839
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Abnormal retinal morphology ORPHA:2786
2Q24 Microdeletion Syndrome
Microphthalmia, Abnormality iris morphology, Cataract, Coloboma ORPHA:1617
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:93298
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Pigmentary retinopathy, Optic atrophy, Elevated hepatic transaminase,... ORPHA:90321
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis ORPHA:93299
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Nonimmune... ORPHA:367
Lymphatic Malformation 12
Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Lymphedema... OMIM:620014
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Edema, Neutropenia, Anemia, Thrombocytope... OMIM:603552
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... ORPHA:231214
Retinitis Pigmentosa 73
Pallor, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Campomelia, Cumming Type
Aplasia/Hypoplasia affecting the eye, Hepatomegaly, Hydrops fetalis, Abnormality of the pancreas,... ORPHA:1318
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope... ORPHA:1959
Mosaic Trisomy 9
Spina bifida, Corneal opacity, Abnormal liver lobulation, Hydrops fetalis, Polyhydramnios, Microp... ORPHA:99776
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elevated hepatic transam... ORPHA:98870
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Microphthalmia OMIM:610023
Congenital Rubella Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Thrombocytopeni... ORPHA:290
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Hydrocephalus, Retinal degeneration, Abnormality of macular pigmentation, D... ORPHA:79282
Gm1 Gangliosidosis
Retinopathy of prematurity, Corneal opacity, Abnormal retinal vascular morphology, Cherry red spo... ORPHA:354
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... ORPHA:300298
Cockayne Syndrome Type 2
Hepatomegaly, Conjunctivitis, Developmental cataract, Anophthalmia ORPHA:90322
Boomerang Dysplasia
Polyhydramnios, Hydrops fetalis ORPHA:1263
Cerebrooculonasal Syndrome
Anophthalmia, Sparse eyebrow, Sparse eyelashes ORPHA:66625
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Coloboma OMIM:120433
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Microphthalmia With Limb Anomalies
Abnormal hair morphology, Anophthalmia, Microphthalmia OMIM:206920
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Isolated Aniridia
Peters anomaly, Aniridia, Cataract, Aplasia/Hypoplasia of the macula ORPHA:250923
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Ascites ORPHA:584
Pearson Syndrome
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Corneal stromal edema... ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Hydrocephalus, Retinal degeneration, Abnormally large globe, Coloboma, Cataract, Microphthalmia, ... OMIM:615249
Frontonasal Dysplasia 1
Coloboma, Cranium bifidum occultum, Cataract, Microphthalmia, Anterior basal encephalocele, Agene... OMIM:136760
Congenital Sialidosis Type 2
Corneal opacity, Hydrocephalus, Hepatomegaly, Petechiae, Cherry red spot of the macula, Hepatospl... ORPHA:93400
Galactosialidosis
Cherry red spot of the macula, Hepatosplenomegaly, Nonimmune hydrops fetalis, Opacification of th... OMIM:256540
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Anophthalmia, Microcornea, Coloboma, Cataract, Microphthalmia, Sclerocornea OMIM:615877
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Idiopathic Neonatal Atrial Flutter
Hydrops fetalis, Maternal diabetes, Fetal distress ORPHA:45452
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Caesarian ... ORPHA:90051
Minicore Myopathy With External Ophthalmoplegia
Polyhydramnios, Hydrops fetalis, Decreased fetal movement OMIM:255320
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Cherry red spot of the macula, Splenomegaly, Hydrops fetalis OMIM:230500
Waldenström Macroglobulinemia
Hepatomegaly, Abnormal retinal vascular morphology, Splenomegaly, Pallor, Normocytic anemia, Reti... ORPHA:33226
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Microgastria-Limb Reduction Defects Association
Splenogonadal fusion, Arrhinencephaly, Anophthalmia, Biliary tract abnormality, Absent gallbladde... OMIM:156810
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Maternal diabetes, Hepatomegaly ORPHA:276580
Oculoauricular Syndrome
Microphakia, Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular... OMIM:612109
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... ORPHA:35858
Mucopolysaccharidosis, Type Vii
Corneal opacity, Hydrocephalus, Hepatomegaly, Splenomegaly, Hydrops fetalis OMIM:253220
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:98375
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Optic atrophy, Optic disc pallor OMIM:612989
Mitochondrial Trifunctional Protein Deficiency
Hydrops fetalis, Elevated circulating aspartate aminotransferase concentration, Prenatal maternal... OMIM:609015
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Maternal diabetes, Hepatomegaly ORPHA:324575
Retinitis Pigmentosa 51
Macular degeneration, Rod-cone dystrophy, Pallor, Attenuation of retinal blood vessels, Bone spic... OMIM:613464
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... ORPHA:331206
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Nonimmune hydrops fetalis, Premature birth OMIM:618838
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Coloboma OMIM:300915
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Retinopathy, Iris coloboma, Cataract ORPHA:2611
Joubert Syndrome 23
Dysplastic corpus callosum, Coloboma OMIM:616490
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Single umbilical artery OMIM:616897
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia ORPHA:276575
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Familial Benign Copper Deficiency
Anemia, Early balding, Aplasia/Hypoplasia of the fovea ORPHA:1551
Congenital Muscular Dystrophy With Cerebellar Involvement
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia, Megalocornea, Retinal detachment, Coloboma... ORPHA:370959
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, R... ORPHA:86839
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Baraitser-Winter Syndrome 2
Microphthalmia, Agenesis of corpus callosum, Coloboma OMIM:614583
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Histiocytoid Cardiomyopathy
Congenital aphakia, Corneal opacity, Hydrocephalus, Hepatomegaly, Pulmonary edema, Pallor, Megalo... ORPHA:137675
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Hydrops fetalis, Increased placental thickness, Developmental cataract, Pterygium,... ORPHA:1865
Idiopathic Pulmonary Hemosiderosis
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia ORPHA:99931
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Pallor, Leukopenia, ... ORPHA:124
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Twin-to-twin transfusion, Lymphedema, Increased placen... ORPHA:1041
Gaucher Disease
Corneal opacity, Hydrocephalus, Hepatomegaly, Cherry red spot of the macula, Splenomegaly, Abnorm... ORPHA:355
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Anophthalmia, Microcornea, Arrhinencephaly, Abnormality of th... ORPHA:3412
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Microcornea, Coloboma OMIM:602499
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Holoprosencephaly
Hydrocephalus, Holoprosencephaly, Retinopathy, Abnormality of the spleen, Anophthalmia, Optic atr... ORPHA:2162
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Coloboma ORPHA:141333
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia OMIM:141700
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Microphthalmi... ORPHA:91495
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Iris transillumination defect, Hypoplasia of the fovea OMIM:619165
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Edema, Periorbital edema ORPHA:3386
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis OMIM:266140
Åland Islands Eye Disease
Hypopigmentation of the fundus, Hypoplasia of the fovea, Astigmatism ORPHA:178333
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Chediak-Higashi Syndrome
Ocular albinism, Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni... OMIM:214500
Matthew-Wood Syndrome
Abnormal spleen morphology, Anophthalmia, Microphthalmia ORPHA:2470
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Microphthalmia With Linear Skin Defects Syndrome
Corneal opacity, Hydrocephalus, Vitritis, Abnormality of retinal pigmentation, Retinal dysplasia,... ORPHA:2556
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Rod-cone dystrophy, Nonimmune hydrops fetalis, Thrombocytosis, Elevated hepatic tra... OMIM:212065
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia, Dehydration, A... ORPHA:20
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Stillbirth, Edema OMIM:200610
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic ... OMIM:611490
Incontinentia Pigmenti
Keratitis, Leukocytosis, Retinal vascular proliferation, Pallor, Eosinophilia, Retinal detachment... OMIM:308300
Copper Deficiency, Familial Benign
Anemia, Early balding, Curly hair OMIM:121270
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice ORPHA:90033
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Nonimmune hydrops fetalis, B lymphocytopenia, T lymphocytopenia, Impair... OMIM:619313
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Hydrops fetalis, Abnormality of the liver ORPHA:88618
Gaucher Disease Type 3
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pancytopenia, Anemia, Thrombocytopenia, Pericardial ... ORPHA:77261
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pleural effusion, Ascites ORPHA:69735
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Nonimm... OMIM:617049
Aland Island Eye Disease
Hypoplasia of the fovea, Astigmatism OMIM:300600
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Senior-Loken Syndrome 8
Rod-cone dystrophy, Intrahepatic bile duct dilatation, Pallor, Retinal dystrophy, Hepatic cysts, ... OMIM:616307
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Elevated ... OMIM:617406
Greenberg Dysplasia
Hepatomegaly, Echogenic fetal bowel, Hepatic calcification, Hepatosplenomegaly, Hydrops fetalis, ... OMIM:215140
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Abnormality of the spleen, Arrhinencephaly, Anophthalmia, Microphthalmia, Agenesis ... ORPHA:2538
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacification of the cornea... OMIM:106210
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Retinal coloboma, Hydrops fetalis, Anencephaly, Polyhydramnios OMIM:616546
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Wilson Disease
Joint swelling, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, He... ORPHA:905
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... OMIM:616843
Fibular Hemimelia
Abnormal anterior chamber morphology, Thrombocytopenia, Anophthalmia, Spina bifida ORPHA:93323
Pierson Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Macular hypoplasia, Uveal ectropion, Ret... OMIM:609049
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Hypoplasia of the fovea, Peters anomaly, Rieger anomaly, Hypo... OMIM:604229
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Hepatic fibrosis, Ascites OMIM:614091
Fanconi Anemia, Complementation Group D2
Annular pancreas, Hydrocephalus, Neutropenia, Microphthalmia, Anemic pallor, Thrombocytopenia, Pa... OMIM:227646
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Megalocornea, Anophthalmia, Abnormal vitreous humor morphology, Corneal dystrophy, Abnormality of... ORPHA:1101
Fibrochondrogenesis 1
Megalocornea, Stillbirth, Hydrops fetalis OMIM:228520
Proboscis Lateralis
Corneal opacity, Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Microcornea, Optic disc... ORPHA:141099
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Long Qt Syndrome 3
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:603830
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hypoplasia of the thymus, Hydrops fetalis, Fetal akinesia sequence OMIM:617022
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Pallor, Dehydration, Thrombocytosis, Edema ORPHA:134
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea OMIM:615312
Hermansky-Pudlak Syndrome 6
Absent foveal reflex, Ocular albinism, Ecchymosis, Macular hypoplasia, Abnormal platelet granules OMIM:614075
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Hydrops fetalis, Lymphedema OMIM:601927
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Tempi Syndrome
Increased hematocrit, Polycythemia, Facial erythema, Transudative pleural effusion, Ascites ORPHA:284227
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Agenesis of corpus callosum, Decreased fetal movement ORPHA:264200
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Cerebrooculonasal Syndrome
Hydrocephalus, Optic nerve hypoplasia, Anophthalmia, Iris coloboma, Encephalocele OMIM:605627
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Microphthal... OMIM:610256
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly OMIM:133100
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Cranioectodermal Dysplasia 2
Hepatomegaly, Cutis laxa, Splenomegaly, Hydrops fetalis, Cholestasis, Elevated hepatic transamina... OMIM:613610
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Yunis-Varon Syndrome
Hydrocephalus, Hydrops fetalis, Arrhinencephaly, Polyhydramnios, Cataract, Bilateral microphthalm... ORPHA:3472
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea OMIM:113750
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Iris coloboma, Cataract, Anophthalmia, Microphthalmia ORPHA:2250
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Pallo... OMIM:605549
Jacobsen Syndrome
Annular pancreas, Hydrocephalus, Holoprosencephaly, Macular hypoplasia, Microcornea, Optic atroph... OMIM:147791
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Congenital Erythropoietic Porphyria
Corneal ulceration, Splenomegaly, Anisocytosis, Leukopenia, Keratoconjunctivitis, Nonimmune hydro... ORPHA:79277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Corneal opacity, Hydrocephalus, Microphthalmia, Buphthalmos, Optic nerve hypoplasia, Megalocornea... OMIM:236670
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pallor, Elevated hepatic transaminase, Pancreat... ORPHA:263455
Achondrogenesis, Type Ia
Hydrops fetalis, Absence of stomach bubble on fetal sonography, Polyhydramnios, Stillbirth, Incre... OMIM:200600
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Gm1 Gangliosidosis Type 1
Abnormal placenta morphology, Hepatosplenomegaly, Hydrops fetalis, Cherry red spot of the macula ORPHA:79255
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferativ... ORPHA:3260
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... OMIM:265300
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Coloboma OMIM:615665
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Ret... OMIM:600901
Hepatoerythropoietic Porphyria
Corneal ulceration, Splenomegaly, Keratoconjunctivitis, Nonimmune hydrops fetalis, Hemolytic anem... ORPHA:95159
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Neurooculocardiogenitourinary Syndrome
Peters anomaly, Microphthalmia, Redundant neck skin, Coloboma OMIM:618652
Degcags Syndrome
Hepatomegaly, Echogenic fetal bowel, Single umbilical artery, Congenital hypoplastic anemia, Pall... OMIM:619488
Oculocutaneous Albinism Type 1
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Optic nerve misrouting, Iris hypopigmen... ORPHA:352731
Curry-Jones Syndrome
Microphthalmia, Agenesis of corpus callosum, Coloboma OMIM:601707
Focal Dermal Hypoplasia
Myelomeningocele, Hydrocephalus, Anophthalmia, Spina bifida occulta, Optic atrophy, Iris coloboma... OMIM:305600
Non-Functioning Paraganglioma
Pallor, Hypertensive retinopathy ORPHA:94080
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Hydrops fetalis, Bilateral fetal pyele... OMIM:300868
Schneckenbecken Dysplasia
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis OMIM:269250
Holoprosencephaly 9
Hydrocephalus, Holoprosencephaly, Optic nerve hypoplasia, Anophthalmia, Partial agenesis of the c... OMIM:610829
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Ret... OMIM:227650
Alg9-Cdg
Hepatomegaly, Periportal fibrosis, Thickened nuchal skin fold, Hydrops fetalis, Hepatic cysts, Ol... ORPHA:79328
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Coloboma, Elevated hepa... OMIM:216360
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis OMIM:607823
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Dravet Syndrome
Pallor ORPHA:33069
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Cardiomyopathy, Familial Hypertrophic 27
Pterygium, Nonimmune hydrops fetalis OMIM:618052
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hydrops fetalis ORPHA:79329
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos, Coloboma OMIM:619318
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death OMIM:276822
Multiple Pterygium Syndrome, Escobar Variant
Hydrops fetalis, Popliteal pterygium, Axillary pterygium, Neck pterygia, Antecubital pterygium, P... OMIM:265000
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor, Cerebral edema ORPHA:439218
Osteogenesis Imperfecta, Type Ii
Nonimmune hydrops fetalis, Premature birth OMIM:166210
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Blue irides, Hypopigmentation of the fundus OMIM:203200
Joubert Syndrome 16
Encephalocele, Retinal dystrophy, Coloboma OMIM:614465
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Ret... OMIM:227645
Pituitary Apoplexy
Pallor, Normochromic anemia, Mydriasis ORPHA:95613
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Dermal translucency, Palpebral edema, Lymphedema, Nonimmune hydrops fetalis OMIM:137940
Chromosome 3Pter-P25 Deletion Syndrome
Macular hypoplasia OMIM:613792
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Hypertensive retinopathy, Polycythemia, Pallor, Macular edema, Retinal ... ORPHA:892
Niemann-Pick Disease Type C
Hepatomegaly, Hepatic failure, Splenomegaly, Hepatosplenomegaly, Hydrops fetalis, Ascites, Fetal ... ORPHA:646
Charge Syndrome
Aqueductal stenosis, Holoprosencephaly, Anophthalmia, Optic atrophy, Polyhydramnios, Iris colobom... ORPHA:138
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Hennekam Syndrome
Lymphopenia, Chylothorax, Splenomegaly, Hydrops fetalis, Lymphedema, Ascites, Pericardial effusion ORPHA:2136
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly ORPHA:348
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hydrops fetalis, Hepatic fibrosis, Retinal dystrophy OMIM:263520
Hermansky-Pudlak Syndrome 4
Ocular albinism, Hypoplasia of the fovea, Abnormal platelet granules OMIM:614073
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Hydrops fetalis, Cataract, Premature birth ORPHA:50945
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Pallor, Thrombocytosis, Neutropenia, Primary congenital glaucoma, ... OMIM:105650
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Edema ORPHA:329971
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Retinal capillary hemangioma, Aniridia, Hypertensive retinopathy ORPHA:29072
Autosomal Recessive Malignant Osteopetrosis
Hydrocephalus, Hepatomegaly, Splenomegaly, Pallor, Optic nerve compression, Anemia ORPHA:667
Hermansky-Pudlak Syndrome 5
Ocular albinism, Hypoplasia of the fovea, Absent platelet dense granules, Iris transillumination ... OMIM:614074
Retinitis Pigmentosa 75
Pallor, Mixed astigmatism OMIM:617023
Charge Syndrome
Lymphopenia, Holoprosencephaly, Retinal coloboma, Anophthalmia, Arrhinencephaly, Unilateral micro... OMIM:214800
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Microphthalmia, Syndromic 2
Remnants of the hyaloid vascular system, Retinal detachment, Anophthalmia, Microcornea, Iris colo... OMIM:300166
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Ocular albinism, Reduced platelet dense granules, Iris transillumination... OMIM:619172
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth OMIM:602522
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Ocular albinism, Abnormal macular morphology, Hypoplasia of the fovea,... ORPHA:54
Infection-Related Hemolytic Uremic Syndrome
Pancreatitis, Leukocytosis, Pallor, Pleural empyema, Hemolytic anemia, Edema, Generalized edema, ... ORPHA:544482
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Knobloch Syndrome 1
Occipital meningocele, Lens subluxation, Band keratopathy, Chorioretinal atrophy, Retinal detachm... OMIM:267750
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Abnormality of retinal pigmentation, Lens subluxation, Ectopia pupillae, Macular... ORPHA:85167
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Coloboma, Cataract, Bilateral microphthalmos, Microphthalmia, Conjunctival hyper... ORPHA:2399
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Joubert Syndrome 21
Retinopathy, Occipital encephalocele, Anophthalmia OMIM:615636
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Sheehan Syndrome
Dry skin, Pallor, Normochromic anemia ORPHA:91355
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis, Cataract, Agenesis of corpus callosum, Congenital hepatic fibrosis ORPHA:93271
Cardiac Valvular Dysplasia 1
Hydrops fetalis, Edema OMIM:212093
Myopathy, Mitochondrial, And Ataxia
Pallor, Pigmentary retinopathy OMIM:617675
Tay-Sachs Disease
Pallor, Cherry red spot of the macula OMIM:272800
Fraser Syndrome 1
Myelomeningocele, Corneal opacity, Hydrocephalus, Anophthalmia, Bilateral microphthalmos, Encepha... OMIM:219000
Esophageal Atresia
Pallor, Maternal diabetes, Absence of stomach bubble on fetal sonography, Coloboma, Polyhydramnios ORPHA:1199
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypoplasia of the fovea, Optic nerve misrou... ORPHA:79435
Nephronophthisis 11
Anemia, Anisocoria, Hepatic fibrosis, Retinal degeneration OMIM:613550
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Coloboma OMIM:617306
Oculocutaneous Albinism Type 5
Ocular albinism, Hypoplasia of the fovea, Abnormal fundus morphology ORPHA:370091
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Hypertensive retinopathy ORPHA:276621
Duodenal Neuroendocrine Tumor
Increased hematocrit, Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated... ORPHA:100076
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Thickened nuchal skin fold, Nonimmune hydrops fetalis, Neonatal death, Polyhydr... OMIM:265380
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Hepatic calcification, Hydrops fetalis, Retinal hemorrhage, Polyh... ORPHA:51608
Microphthalmia, Syndromic 6
Anophthalmia, Microcornea, Retinal dystrophy, Coloboma, Microphthalmia, Sclerocornea OMIM:607932
Phocomelia, Schinzel Type
Hydrops fetalis, Meningocele ORPHA:2879
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Lymphedema, Nonimmune hydrops fetalis, Chylothorax ORPHA:137667
Alternating Hemiplegia Of Childhood
Pallor, Dehydration, Mydriasis ORPHA:2131
Developmental And Epileptic Encephalopathy 83
Hypoplasia of the fovea OMIM:618744
Fraser Syndrome 3
Hydrops fetalis OMIM:617667
Blau Syndrome
Keratitis, Joint swelling, Abnormal retinal vascular morphology, Splenomegaly, Retinopathy, Xeros... ORPHA:90340
Achromatopsia 2
Absent foveal reflex, Dull foveal reflex, Myopic astigmatism, Retinal thinning, Hypoplasia of the... OMIM:216900
Rare Circulatory System Disease
Pallor ORPHA:98028
Branchiooculofacial Syndrome
Retinal coloboma, Anophthalmia, Iris coloboma, Cataract, Microphthalmia OMIM:113620
Yunis-Varon Syndrome
Hydrops fetalis, Premature birth, Arrhinencephaly, Polyhydramnios, Cataract, Agenesis of corpus c... OMIM:216340
Hermansky-Pudlak Syndrome 8
Optic disc pallor, Ocular albinism, Hypoplasia of the fovea, Astigmatism OMIM:614077
Childhood Absence Epilepsy
Pallor ORPHA:64280
Oculocutaneous Albinism
Ocular albinism, Hypoplasia of the fovea, Iris hypopigmentation, Iris coloboma, Hypopigmentation ... ORPHA:55
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Blue irides, Hypoplasia of the fovea, Optic nerve misrouting... ORPHA:79432
Fraser Syndrome
Abnormal hair pattern, Anophthalmia, Microphthalmia ORPHA:2052
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Abnormality ... ORPHA:79434
Acro-Renal-Ocular Syndrome
Microcornea, Optic disc coloboma, Coloboma, Iris coloboma, Cataract, Optic disc hypoplasia, Micro... ORPHA:959
Microphthalmia With Limb Anomalies
Hydrocephalus, Arrhinencephaly, True anophthalmia, Optic atrophy, Microphthalmia ORPHA:1106
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver, Prominent corneal nerve fibers ORPHA:653
Prolactinoma
Pallor ORPHA:2965
Gaisböck Syndrome
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... ORPHA:90041
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Ocular albinism, Hypoplasia of the fovea, Abnormality of the optic nerve ORPHA:79431
Craniofacial Microsomia
Hydrocephalus, Limbal dermoid, Anophthalmia, Microphthalmia, Occipital encephalocele, Agenesis of... OMIM:164210
Dihydropyrimidine Dehydrogenase Deficiency
Macular hypoplasia, Microcornea, Astigmatism ORPHA:1675
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Ocular albinism, Blue irides, Astigmatism OMIM:203100
Microphthalmia, Syndromic 1
Anophthalmia, Microcornea, Optic disc coloboma, Iris coloboma, Microphthalmia, Ciliary body colob... OMIM:309800
Tsh-Secreting Pituitary Adenoma
Pallor, Pericardial effusion ORPHA:91347
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Chole... OMIM:619534
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Hypoplasia of t... OMIM:619539
Roberts-Sc Phocomelia Syndrome
Hydrocephalus, Accessory spleen, Opacification of the corneal stroma, Biliary tract abnormality, ... OMIM:268300
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Low 5-minute APGAR score, Pallor, Hepatomegaly, Low 1-minute APGAR score ORPHA:99125

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 Lhx2

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 Lhx2.

No publications found that use IMPC mice or data for Lhx2.

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MGI Allele Allele Type Produced
Lhx2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lhx2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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