Gene Summary

Name:
PHD finger protein 20-like 1
Synonyms:
E130113K22Rik,  CGI-72

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal sternum morphology Phf20l1em1(IMPC)Tcp HOM Early adult 0.00
increased heart weight Phf20l1em1(IMPC)Tcp HOM Early adult 1.41×10-05
decreased lymphocyte cell number Phf20l1em1(IMPC)Tcp HOM Early adult 1.03×10-05
cataract Phf20l1em1(IMPC)Tcp HOM   Early adult 1.44×10-05
increased mean corpuscular hemoglobin Phf20l1em1(IMPC)Tcp HOM Early adult 1.24×10-07
increased mean corpuscular volume Phf20l1em1(IMPC)Tcp HOM Early adult 5.17×10-07
decreased total body fat amount Phf20l1em1(IMPC)Tcp HOM Early adult 2.53×10-05
increased freezing behavior Phf20l1em1(IMPC)Tcp HOM   Early adult 1.41×10-07
increased mean platelet volume Phf20l1em1(IMPC)Tcp HOM   Early adult 5.28×10-06
decreased body length Phf20l1em1(IMPC)Tcp HOM Early adult 3.12×10-08
short tibia Phf20l1em1(IMPC)Tcp HOM   Early adult 5.17×10-06
enlarged lymph nodes Phf20l1em1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Phf20l1em1(IMPC)Tcp HOM   Early adult 1.58×10-05
increased lean body mass Phf20l1em1(IMPC)Tcp HOM Early adult 7.00×10-05
increased grip strength Phf20l1em1(IMPC)Tcp HOM   Early adult 7.36×10-05
abnormal brain morphology Phf20l1em1(IMPC)Tcp HOM Early adult 0.00
increased spleen weight Phf20l1em1(IMPC)Tcp HOM Early adult 1.75×10-06

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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 Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

51 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

99 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Histopathology

Images

6 Images

Human diseases caused by Phf20l1 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 Phf20l1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... ORPHA:93323
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Pelger-Huet Anomaly
Failure to thrive, Pes cavus, Hyposegmentation of neutrophil nuclei, Upper limb undergrowth, Shor... OMIM:169400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... OMIM:619041
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Atrial septal defect, Persistence of hemogl... OMIM:612561
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormality of tibia mo... ORPHA:1802
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Acromesomelic Dysplasia 2A
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... OMIM:200700
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Myh9-Related Disease
Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Preseni... ORPHA:182050
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skul... ORPHA:3319
Fechtner syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Developmental cataract, Giant platelets,... OMIM:153640
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia OMIM:261000
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Syndactyly, Osteoporosis, Macr... ORPHA:2169
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... ORPHA:1972
Slc35A1-Cdg
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Diamond-Blackfan Anemia 7
Increased mean corpuscular volume, Secundum atrial septal defect, Osteopenia, Osteoporosis, Tetra... OMIM:612562
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Macrocytic anemia, ... ORPHA:811
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Flexion co... OMIM:609628
Sitosterolemia 1
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... OMIM:210250
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Abno... ORPHA:1505
Blackfan-Diamond Anemia
Absent thumb, Ventricular septal defect, Reticulocytopenia, Abnormal heart morphology, Increased ... ORPHA:124
Lathosterolosis
Talipes equinovarus, Micrognathia, Hepatosplenomegaly, Anisopoikilocytosis, Opacification of the ... OMIM:607330
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos... OMIM:616860
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 8
Lymphopenia OMIM:615401
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Genu valgum, Bowing of the long bones, Jaundice,... ORPHA:231226
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Red... ORPHA:848
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia, Cataract OMIM:273680
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... OMIM:611590
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Micrognathia, Astigmatism, Ventricular septal defect, Dilated ... ORPHA:261250
Syndromic Diarrhea
Bicuspid aortic valve, Lymphopenia, Hepatomegaly, Atrial septal defect, Splenomegaly, Small for g... ORPHA:84064
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Overlapping toe, Inguinal hernia, Pulmonic stenosis, Tapered ... OMIM:616737
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... ORPHA:98870
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Weight loss, Osteolysis, Anemia,... ORPHA:100024
Trichohepatoenteric Syndrome 1
Failure to thrive, Hepatomegaly, Splenomegaly, Pulmonic stenosis, Small for gestational age, Cirr... OMIM:222470
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Trimethylaminuria
Depression, Anemia, Neutropenia, Splenomegaly OMIM:602079
Slc35A2-Cdg
Talipes equinovarus, Craniosynostosis, Short tibia, Aplasia/hypoplasia involving bones of the ext... ORPHA:356961
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of toe, Short proximal phalanx of hallux, Enamel hypoplasia, S... OMIM:251190
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Talipes equinovarus, Small for gestational age, Hypoplasia of the radius, Shor... OMIM:607143
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Failure to thrive, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Lymphadenopathy OMIM:617718
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis ORPHA:90044
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Hepatomegaly, Metaphyseal sclerosis, Proximal femoral epiphysi... OMIM:260400
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... OMIM:619924
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Flexion contracture, Inguinal hernia, Abnormality of the lymphatic system, Taper... ORPHA:487796
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... OMIM:615631
Castleman Disease
Decreased mean corpuscular volume, Myelofibrosis, Restrictive cardiomyopathy, Follicular hyperpla... ORPHA:160
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Pedal edema, Bon... ORPHA:86839
Immunodeficiency 64
Failure to thrive, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells... OMIM:618534
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Cataract, Weight loss, Jaundice ORPHA:79238
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Micrognathia, Short tibia, Micromelia... OMIM:251230
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... OMIM:618963
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Hepatocellular necrosis, Hepatomegaly, Micr... OMIM:618278
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Congenital Rubella Syndrome
Corneal opacity, Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Apl... ORPHA:290
Infantile Sialic Acid Storage Disease
Failure to thrive, Metaphyseal irregularity, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, ... OMIM:269920
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... ORPHA:96334
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... OMIM:614470
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/... OMIM:609945
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Lymphopenia, Neutropenia OMIM:614868
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Inguinal hernia, Splenomegaly, Epiphyseal stippling, Ascite... OMIM:256550
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Narrow greate... OMIM:602557
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... ORPHA:300298
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Anemia, Thrombocytopenia, Jaundice, Failure to thrive in infancy, Cardiome... ORPHA:858
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Abnormal... ORPHA:3035
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Lymphopenia, Hepatomegaly, Jaundice, Ab... ORPHA:276
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Panniculitis, Fi... OMIM:617591
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia ORPHA:163596
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Coxa vara, Flat capital femoral epiphysis, Metaphyseal spurs, Hip dysplas... ORPHA:166011
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Axial Spondylometaphyseal Dysplasia
Osteopenia, Upper limb undergrowth, Cataract, Flared, irregular rib ends, Narrow greater sciatic ... ORPHA:168549
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Femoral-Facial Syndrome
Coxa vara, Rib fusion, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Inguinal hernia, Sho... ORPHA:1988
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... OMIM:601560
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Enamel hypoplasia, Abnormal rib morphology, Abnormal epiphysis morphology, Catarac... ORPHA:2643
Achondrogenesis Type 2
Abnormal bone ossification, Lens subluxation, Short ribs, Delayed proximal femoral epiphyseal oss... ORPHA:93296
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... OMIM:613179
Metatropic Dysplasia
Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptoda... ORPHA:2635
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph... ORPHA:277
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Noonan Syndrome 12
Lymphopenia, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Proximal placement... OMIM:618624
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Orofaciodigital Syndrome Ix
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly OMIM:258865
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Preaxial polydacty... OMIM:617925
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... OMIM:618986
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... ORPHA:169154
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Small f... OMIM:224120
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Saul-Wilson Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Talipes equin... OMIM:618150
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Short humerus, Brachydactyly, B lymphocytopenia, Rhizomelic arm shorteni... ORPHA:508542
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Anxiety, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Omodysplasia 1
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... OMIM:258315
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Short ribs, Pancreatic fibrosis, Brachydactyly, Postaxial polysyndactyly of... OMIM:263520
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Failure to thrive, Tibial bowing, Metaphyseal irregularity, Delayed epiphyseal ossification, Bowi... OMIM:600081
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Hiatus hernia, Persistence of hemoglobin F, Astigmatism, Ventricular septal... OMIM:619769
Occipital Horn Syndrome
Hiatus hernia, Osteopenia, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, ... ORPHA:198
Eisenmenger Syndrome
Increased mean corpuscular volume, Bacterial endocarditis, Hepatomegaly, Atrial septal defect, At... ORPHA:97214
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Hepatomegaly, Splenomegaly, Dense calvaria, Aggressive behavior, Asymmetric septa... OMIM:252920
Congenital Disorder Of Glycosylation, Type Iif
Clinodactyly, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased platelet glycoprote... OMIM:603585
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Failure to thrive, Metaphyseal irregularity, Subperiosteal bone resorption, Tibial bowing, Delaye... OMIM:264700
Lymphangiectasia, Intestinal
Pedal edema, Lymphopenia, Prominent floating ribs, Intestinal lymphangiectasia OMIM:152800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Short toe, Talipes equinovarus, Flexion contracture, Micrognathia, Microcytic ... ORPHA:98791
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Fibrochondrogenesis 1
Megalocornea, Rhizomelia, Omphalocele, Posterior rib cupping, Dumbbell-shaped long bone, Short lo... OMIM:228520
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Lymphadenitis, Hem... OMIM:618935
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Hepatomegaly, Talipes equinovarus, Splenomegaly, Micrognathia, Hepatosplenomeg... OMIM:614866
Alpha-Mannosidosis, Adult Form
Corneal opacity, Depression, Osteopenia, Hepatosplenomegaly, Anxiety, Cataract, Pancytopenia ORPHA:309288
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Failure to thrive, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenome... ORPHA:331206
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia OMIM:617441
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... OMIM:301078
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Cataract, Hepatic steatosi... OMIM:618805
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Osteolys... ORPHA:100026
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Intermittent thrombocytopenia,... OMIM:612541
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... OMIM:600903
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Ventricular septal defect,... OMIM:602782
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Neutropenia, Anemia, Cardiomyopathy OMIM:604250
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Failure to thrive, Short distal phalanx of finger, Absent ha... ORPHA:974
Mietens Syndrome
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Hypoplasia of the radius,... ORPHA:2557
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice OMIM:608885
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia OMIM:614162
Cyclic Neutropenia
Lymphopenia, Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neu... ORPHA:2686
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Hy... OMIM:186500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Macrocephaly/Autism Syndrome
Obesity, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Genu valgum, Abnormal ... ORPHA:1328
Schimke Immunoosseous Dysplasia
Lymphopenia, Talipes equinovarus, Small for gestational age, Lateral displacement of the femoral ... OMIM:242900
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... OMIM:164900
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Immunodeficiency 36
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... OMIM:616005
Thrombocytopenia 1
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume OMIM:313900
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Decreased body weight, Delayed tarsal ossification,... OMIM:600002
Mevalonic Aciduria
Failure to thrive, Fluctuating hepatomegaly, Nuclear cataract, Leukocytosis, Fluctuating splenome... OMIM:610377
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Proteus-Like Syndrome
Genu recurvatum, Abnormal pupil morphology, Splenomegaly, Limbal dermoid, Shagreen patch, Thymus ... ORPHA:2969
Cartilage-Hair Hypoplasia
Coxa vara, Metaphyseal dysplasia, Metaphyseal cupping, Lymphopenia, Congenital hypoplastic anemia... OMIM:250250
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia o... OMIM:227270
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Severe B lymph... OMIM:102700
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Lymphopenia, Atrial septal defect, Craniosynostosis, Small han... OMIM:620005
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Talipes equinovalgus, Metacarpophalangeal joint hyperextensibility, Osteopenia,... OMIM:245600
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Popliteal pterygium, Mirror image foot polyda... OMIM:119800
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Corneal opacity, Lymphopenia, Pancreatitis, Small for gestational age, Shallow... ORPHA:1830
Ulnar/Fibular Ray Defect And Brachydactyly
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... OMIM:608571
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ocular albinism, Abnormal hip bone morphology, Arachnodactyly, Hypochromic anemia, Reduced bone m... ORPHA:2720
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Agammaglobulinemia, X-Linked
Cor pulmonale, Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T lymphocytope... OMIM:300755
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Cataract, Bowing of the long bones, Omphalocele, Carpal synos... ORPHA:90652
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Cellulitis, Osteopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblas... ORPHA:486
Mirage Syndrome
Decreased body weight, Lymphopenia, Talipes equinovarus, Radial club hand, Leukopenia, Overlappin... OMIM:617053
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Lethal Congenital Contracture Syndrome 10
Talipes equinovarus, Adducted thumb, Micrognathia, Hypoplasia of the thymus, Overlapping fingers,... OMIM:617022
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Craniosynostosis, Narrow greater sciatic notch, Micrognathia, Broad phalanges of th... ORPHA:508533
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Dislocated radial head, Metaphyseal dysplasia, Lymphopenia, Delayed ossific... OMIM:617425
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Inguinal hernia, Reduced bone mineral density, Abnormality of the pancreas, Long fib... ORPHA:935
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Failure to thrive secondary to recurren... ORPHA:169160
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Thin ribs, Split foot, Hypoplasia of the radius, Micrognathia, R... ORPHA:958
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... OMIM:603903
Lathosterolosis
Failure to thrive, Hepatomegaly, Micrognathia, Anisopoikilocytosis, Microcornea, Opacification of... ORPHA:46059
Legionnaires Disease
Lymphopenia, Pancreatitis, Cellulitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Bone m... ORPHA:549
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision ci... OMIM:242700
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... OMIM:260660
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Popov-Chang syndrome
Failure to thrive, Clinodactyly of the 5th finger, Lymphopenia, Self-injurious behavior, Pulmonic... OMIM:618428
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
2-3 toe syndactyly, Lymphopenia, Aggressive behavior, Irritability ORPHA:391307
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Parat... OMIM:615934
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Pes cavus, Mitral valve ... OMIM:231005
Pgm3-Cdg
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... ORPHA:443811
Acquired Methemoglobinemia
Methemoglobinemia, Anxiety ORPHA:464453
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Craniosynostosis, Osteopenia, H... OMIM:266920
Weill-Marchesani Syndrome 2
Thin bony cortex, Ventricular septal defect, Iridodonesis, Cataract, Broad ribs, Umbilical hernia... OMIM:608328
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Clinodactyly of the 5th finger, Talipes equinovarus, Self-injurious behavior... ORPHA:847
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Lymphopenia, Decreased proportion of CD3-positive T cells, Abnormal lymphati... ORPHA:90362
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Talipes equinovarus, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Radial de... OMIM:141750
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Ventricular septal defect, Thrombocytosis, I... OMIM:243150
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Sneddon Syndrome
Bicuspid aortic valve, Lymphopenia, Atrophic scars OMIM:182410
Charge Syndrome
Self-mutilation, Down-sloping shoulders, Ventricular septal defect, Hypoplasia of the ulna, Catar... OMIM:214800
Pseudohypoparathyroidism Type 1A
Band keratopathy, Short 3rd metacarpal, Cataract, Broad distal phalanx of the thumb, Short fifth ... ORPHA:79443
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Talipes equinovarus, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Tapered f... OMIM:301040
Meige Disease
Cellulitis, Absence of lymph node germinal center, Pedal edema, Lymph node hypoplasia, Atypical s... ORPHA:90186
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Lymphopenia, Abdominal adhesions, Cataract, Developmental cataract, Neutropenia OMIM:616395
Lead Poisoning
Small for gestational age, Depression, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell m... ORPHA:330015
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... OMIM:615688
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Roberts Syndrome
Craniosynostosis, Hypoplasia of the radius, Radioulnar synostosis, Cataract, Sandal gap, Complete... ORPHA:3103
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long hallux, Tibial bowing, Talipes equinovarus, Camptodactyly, Inguinal hernia, Abnormal right v... ORPHA:500095
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Inguinal hernia, Pes cavus, Truncal obesity, Limb undergrowth, Dilated cardiomyopath... OMIM:616541
Sponastrime Dysplasia
Genu valgum, Rhizomelia, Hip subluxation, Small epiphyses, Cataract, Microcoria, Short long bone,... ORPHA:93357
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal irregularity, Metaphyseal dysplasia, Sclerosis of skull base, Lymphopenia, Metaphysea... OMIM:607944
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Polycys... OMIM:208500
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Lipodystrophy, Cardiomegaly, Lymphadenopathy, Flexio... OMIM:256040
Hereditary Cryohydrocytosis With Reduced Stomatin
Zonular cataract, Hepatosplenomegaly, Spontaneous hemolytic crises, Brachydactyly, Cataract, Stom... ORPHA:168577
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Thin ribs, Split foot, Hypoplasia of the radius, Micrognathia, H... OMIM:200980
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Failur... ORPHA:1572
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... OMIM:114290
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Microangiopathic hemolytic anemia, Thrombocytopenia, Pericardial effusio... ORPHA:93552
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphoc... OMIM:600802
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Undulate ribs, Femoral bowing, Mi... OMIM:211350
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Opacification of the corneal stroma, Mesomelic arm shorte... OMIM:113470
Immunodeficiency 49
Micrognathia, Eosinophilia, Lymphopenia, Umbilical hernia OMIM:617237
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital hip dislocation, Enlarge... OMIM:306955
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Tibial bowing, Talipes equi... ORPHA:140
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Cirrhosis, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Anemia, Throm... OMIM:127550
Icf Syndrome
Lymphopenia, Micrognathia, Abnormality of neutrophils, Umbilical hernia, Anemia ORPHA:2268
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Talipes equinovarus, Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count OMIM:619752
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Fusariosis
Keratitis, Lymphopenia, Cellulitis, Peritonitis, Abnormality of the spleen, Brain abscess, Fascii... ORPHA:228119
Wiskott-Aldrich Syndrome
Keratitis, Lymphopenia, Abnormal eosinophil morphology, Conjunctivitis, Hypoplasia of the thymus,... ORPHA:906
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Band keratopathy, Cirrhosis, Chronic hepatitis, Kerat... OMIM:269200
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Midline central nervous system lipomas, Pat... ORPHA:1827
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... ORPHA:760
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic cysts, Rhizomelia, Sagittal crani... OMIM:218330
Immunodeficiency 87 And Autoimmunity
Lymphopenia, Hepatomegaly, Atrial septal defect, Atrioventricular canal defect, Small for gestati... OMIM:619573
Tibial Hemimelia
Absent tibia OMIM:275220
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Osteopenia, Hepatosplenomegaly... ORPHA:391487
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Decreased calvarial ossification, Broad ribs, Aplasia/H... OMIM:276820
Osteopathia Striata With Cranial Sclerosis
Failure to thrive, Sclerosis of skull base, Clinodactyly of the 5th finger, Atrial septal defect,... OMIM:300373
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Immunodeficiency 55
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells OMIM:617827
Hennekam Syndrome
Lymphangioma, Lymphopenia, Splenomegaly, Craniosynostosis, Pulmonary lymphangiectasia, Camptodact... ORPHA:2136
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... ORPHA:3144
Primary Sjögren Syndrome
Corneal perforation, Chronic active hepatitis, Lymphopenia, Depression, Leukopenia, Chronic hepat... ORPHA:289390
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Acute pancreatitis, Hepatitis, Thrombocytopenia ORPHA:319218
Cushing Disease
Abdominal obesity, Lymphopenia, Leukocytosis, Depression, Panic attack, Osteoporosis, Truncal obe... ORPHA:96253
Kinsship Syndrome
Failure to thrive, Dislocated radial head, Supernumerary ribs, Micrognathia, Osteopenia, Polydact... OMIM:619297
Craniorachischisis
Bifid sternum, Congenital diaphragmatic hernia, Sirenomelia, Omphalocele ORPHA:63260
Whim Syndrome
Lymphopenia, Cellulitis, Lymphadenitis, Tetralogy of Fallot, Neutropenia, Abnormality of neutroph... ORPHA:51636
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Ataxia-Telangiectasia
Failure to thrive, Lymphopenia, Hypoplasia of the thymus, Conjunctival telangiectasia, T lymphocy... OMIM:208900
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Coffin-Lowry Syndrome
Drumstick terminal phalanges, Uterine prolapse, Decreased body weight, Inguinal hernia, Hyperexte... OMIM:303600
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Cushing Syndrome Due To Ectopic Acth Secretion
Abdominal obesity, Lymphopenia, Leukocytosis, Abnormality of the lymph nodes, Depression, Anxiety... ORPHA:99889
Orofaciodigital Syndrome Type 4
Failure to thrive, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial han... ORPHA:2753
Marburg Hemorrhagic Fever
Lymphopenia, Pancreatitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Pe... ORPHA:99826
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypoplasia of proximal radius, Small hand, Micrognathia, Brachydactyly, Ventricular septal defect... ORPHA:444077

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term hypoplasia Phf20l1em1(IMPC)Tcp HOM Early adult
Eye - MPATH pathological process term dysplasia Phf20l1em1(IMPC)Tcp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Phf20l1.

No publications found that use IMPC mice or data for Phf20l1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Phf20l1tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phf20l1em1(IMPC)Tcp Exon Deletion Mice

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