Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ptprz1 MGI:97816

Gene Summary

Name:

protein tyrosine phosphatase receptor type Z, polypeptide 1

Synonyms:

PTPzeta, Rptpbeta, Ptprz, Ptpz, phosphacan, RPTPz, DSD-1-PG, PTPbeta

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal thymus morphology	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged spleen	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
anophthalmia	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal skin morphology	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
thin skin	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal eye morphology	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged thymus	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged lymph nodes	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal lymph node morphology	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal spleen morphology	Ptprz1^{em1(IMPC)Ccpcz}	HOM	Early adult

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

View images

Human diseases caused by Ptprz1 mutations

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

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

Human diseases associated with Ptprz1 (0 diseases)
Human diseases predicted to be associated with Ptprz1 (773 diseases)

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

The table below shows human diseases predicted to be associated to Ptprz1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Exostoses, Multiple, Type Iii	Multiple exostoses	OMIM:600209
Exostoses Of Heel	Exostoses	OMIM:133600
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:614569
Chordoma, Susceptibility To	Astrocytoma, Chordoma	OMIM:215400
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Myofibromatosis, Infantile, 1	Myofibromatosis, Fibroma	OMIM:228550
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Oslam Syndrome	Neoplasm, Osteosarcoma	OMIM:165660
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Osteosarcoma	OMIM:260500
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Oslam Syndrome	Osteosarcoma	ORPHA:2760
Paget Disease Of Bone 3	Osteosarcoma	OMIM:167250
Exostoses, Multiple, Type Ii	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133700
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Premature Aging Syndrome, Okamoto Type	Neoplasm, Osteosarcoma	OMIM:601811
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Kerion Celsi	Lymphadenopathy	ORPHA:499
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule	ORPHA:1962
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Follicular Lymphoma	Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Skin nodule, Mediastinal lymphaden...	ORPHA:545
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Oncogenic Osteomalacia	Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon...	ORPHA:352540
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Rosaï-Dorfman Disease	Anemia, Subcutaneous nodule, Papule, Lymphadenopathy	ORPHA:158014
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Polyposis, Intestinal, With Multiple Exostoses	Multiple exostoses, Intestinal polyposis	OMIM:175450
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Xanthomatosis, Aplasia/Hypoplasia of the ski...	ORPHA:2348
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology	ORPHA:217260
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Oculocerebrocutaneous Syndrome	Anophthalmia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Microphthalmia	OMIM:164180
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Xanthomatosis, Aplasia/Hypoplasia of the ski...	ORPHA:79083
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Jaundice, Macule, Thrombocytopenia, Microphthalmia, Anemia, ...	ORPHA:858
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Classic Mycosis Fungoides	Skin ulcer, Hypopigmented skin patches, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegal...	ORPHA:2584
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Macule, Lymphadenopathy, Anemia, Papule	ORPHA:37748
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Thin skin	ORPHA:1658
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Fibrosarcoma, Osteosarcoma, Histiocytoma	OMIM:112250
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Mycosis Fungoides	Skin plaque, Psoriasiform dermatitis, Lymphadenopathy	OMIM:254400
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Dermoodontodysplasia	Thin skin	OMIM:125640
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane...	OMIM:603552
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Maffucci Syndrome	Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto...	ORPHA:163634
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Erythematous papule, Lymphopenia, Lymph nod...	OMIM:602450
Pelizaeus-Merzbacher Disease	CNS hypomyelination, Sudanophilic leukodystrophy, Reduction of oligodendroglia, Abnormal CNS myel...	OMIM:312080
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Microphthalmia, Syndromic 12	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:615524
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Acrogeria	Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin	ORPHA:2500
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Matthew-Wood Syndrome	Annular pancreas, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Microphthalmia, Aplas...	ORPHA:2470
Retinoblastoma	Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi...	ORPHA:790
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Prolidase Deficiency	Skin ulcer, Splenomegaly, Aplasia/Hypoplasia of the skin, Hepatomegaly, Papule, Thin skin	ORPHA:742
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Atypical scarring of skin, Thin skin	OMIM:225310
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden...	OMIM:615895
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Leishmaniasis	Skin ulcer, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly,...	ORPHA:507
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin	ORPHA:743
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Pyoderma g...	OMIM:150550
Developmental And Epileptic Encephalopathy 71	CNS demyelination, Gliosis	OMIM:618328
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio...	OMIM:300853
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Familial Cervical Artery Dissection	Striae distensae, Thin skin	ORPHA:36382
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
X-Linked Ehlers-Danlos Syndrome	Thin skin	ORPHA:75497
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Complex Regional Pain Syndrome	Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia	ORPHA:83452
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Kaposi Sarcoma	Papule, Hypermelanotic macule, Abnormality of the spleen, Abnormality of the liver, Generalized l...	ORPHA:33276
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Ollier Disease	Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma	ORPHA:296
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Dermal atrophy, Milia, Erythematous plaque, Thin skin	ORPHA:158673
Fetal Encasement Syndrome	Thin skin	OMIM:613630
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Subcutaneous nodule, Medias...	ORPHA:158029
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atypical scarring of skin, Atrophic scars, Cryptorchidism, Testicular torsion, Thin skin	ORPHA:75496
Dermoodontodysplasia	Melanocytic nevus, Thin skin	ORPHA:1660
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Werner Syndrome	Meningioma, Osteosarcoma	OMIM:277700
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Thin skin	OMIM:259410
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Thin skin, Skin dimple	ORPHA:261304
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy	ORPHA:100083
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin	ORPHA:735
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Silver-Russell Syndrome 2	Thin skin	OMIM:618905
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia affecting the eye, Sacral dimple, Polycystic o...	ORPHA:1643
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Pseudoprogeria Syndrome	Thin skin	ORPHA:2985
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Thin skin	OMIM:225320
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thin skin	ORPHA:157965
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Thin skin	ORPHA:1810
Meige Disease	Atypical scarring of skin, Skin erosion, Skin ulcer, Absence of lymph node germinal center, Lymph...	ORPHA:90186
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Webbed neck, Cigarette-paper scars, Thin skin	OMIM:612350
Meckel Syndrome, Type 8	Anophthalmia, Enlarged kidney, Microphthalmia	OMIM:613885
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Congenital Heart Defects And Ectodermal Dysplasia	Thin skin	OMIM:617364
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae, Macronodular adrenal hyperplasia, Adrenal hyperplasia, Thin skin	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Striae distensae, Pancreatitis, Ovarian cyst, Thin skin	OMIM:610475
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Xanthomatosis, Aplasia/Hypoplasia of the ski...	ORPHA:280365
Intermediate Generalized Junctional Epidermolysis Bullosa	Atrophic scars, Milia, Scarring alopecia of scalp, Aplasia cutis congenita, Anemia	ORPHA:79402
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Arthrochalasia Ehlers-Danlos Syndrome	Thin skin	ORPHA:1899
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Fryns Microphthalmia Syndrome	Anophthalmia, Microphthalmia	OMIM:600776
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Proteus Syndrome	Lymphangioma, Splenomegaly, Epidermal nevus, Nevus	OMIM:176920
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Diamond-Blackfan Anemia 21	Osteosarcoma	OMIM:620072
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Baller-Gerold Syndrome	Lymphoma, Osteosarcoma	ORPHA:1225
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Macule, Lymphadenopathy, Thrombocytopenia, Skin nodule, Ski...	ORPHA:83313
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Cutaneous myxoma, Testicular neoplasm, Neoplasm of the breast, Osteosarcoma	ORPHA:249
Trisomy 13	Preauricular skin tag, Preauricular pit, Cryptorchidism, Anophthalmia, Aplasia/Hypoplasia of the ...	ORPHA:3378
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys...	ORPHA:221008
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Rothmund-Thomson Syndrome Type 2	Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Melanoma, Squamous cell carcinoma, Leukemia...	ORPHA:221016
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testi...	ORPHA:54251
Tularemia	Localized skin lesion, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leuk...	ORPHA:3392
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Splenomegaly	ORPHA:33577
Cutaneous Neuroendocrine Carcinoma	Erythematous plaque, Chronic noninfectious lymphadenopathy, Skin nodule, Lymphoid leukemia, Eryth...	ORPHA:79140
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	B-cell lymphoma, Burkitt lymphoma, Osteochondroma	OMIM:620232
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Griscelli Syndrome	Bone marrow hypocellularity, Hypopigmented skin patches, Hepatitis, Ascites, Leukopenia, Splenome...	ORPHA:381
Periventricular Nodular Heterotopia	Thin skin	ORPHA:98892
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Skin plaque, Subcutaneous nodule, Papule	ORPHA:89843
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Xanthomatosis, Hepatomegaly, Ly...	OMIM:257200
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Cutis Laxa, Autosomal Recessive, Type Iiia	Cryptorchidism, Thin skin	OMIM:219150
Cockayne Syndrome Type 2	Hepatomegaly, Hypermelanotic macule, Cryptorchidism, Anophthalmia	ORPHA:90322
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Anencephaly 2	Anophthalmia	OMIM:619452
Nephroblastoma	Aniridia, Lymphadenopathy, Neoplasm of the liver	ORPHA:654
Rhabdoid Tumor	Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Subcutaneous nodule	ORPHA:69077
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:603909
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Self-Improving Dystrophic Epidermolysis Bullosa	Milia, Atrophic scars, Skin erosion, Aplasia cutis congenita	ORPHA:79411
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Aplasia cutis congenita, Cryptorchidism, Thin skin	ORPHA:217346
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem...	ORPHA:83469
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Trigeminal Neuralgia	Paresthesia, Somatic sensory dysfunction, Allodynia	ORPHA:221091
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Atrophoderma Vermiculata	Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ...	ORPHA:79100
Rothmund-Thomson Syndrome, Type 2	Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma	OMIM:268400
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Hydrocele testis, Thin skin	OMIM:607823
Beta-Thalassemia	Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepa...	ORPHA:848
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy,...	OMIM:616100
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:616719
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Scarring alopecia of scalp, Hepatomegaly, Jaundice	ORPHA:59303
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Lymphopenia, Polycystic ovaries, Aplasia/Hypoplasia of the skin...	ORPHA:100
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Farber Lipogranulomatosis	Splenomegaly, Periarticular subcutaneous nodules, Lipogranulomatosis, Hepatomegaly, Subcutaneous ...	OMIM:228000
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Anterior Cutaneous Nerve Entrapment Syndrome	Hyperesthesia, Allodynia, Somatic sensory dysfunction, Impaired tactile sensation	ORPHA:51890
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa...	OMIM:614034
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Sub...	OMIM:618048
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Adams-Oliver Syndrome 4	Aplasia cutis congenita, Microphthalmia	OMIM:615297
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Diffuse Cutaneous Mastocytosis	Skin erosion, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy...	ORPHA:79456
Short Syndrome	Rieger anomaly, Ovarian cyst, Thin skin	OMIM:269880
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Epide...	ORPHA:2969
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer	ORPHA:2028
Papa Syndrome	Skin ulcer, Lymphadenopathy	ORPHA:69126
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplastic spleen	OMIM:601186
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
American Trypanosomiasis	Hepatomegaly, Localized skin lesion, Lymphadenopathy, Splenomegaly	ORPHA:3386
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Focal Dermal Hypoplasia	Hypoplasia of the iris, Dermal atrophy, Aplasia/Hypoplasia of the skin, Macule, Microphthalmia, S...	ORPHA:2092
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Adams-Oliver Syndrome 6	Aplasia cutis congenita of scalp, Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Anophthalmia, Sacral dimple, Microphthalmia	OMIM:206920
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Cryptorchidism, Aplasia/Hypoplasia affecting the eye, Thin skin	ORPHA:2719
Recon Progeroid Syndrome	Anemia, Thrombocytopenia, Thin skin	OMIM:620370
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Focal Facial Dermal Dysplasia Type I	Spotty hypopigmentation, Atrophic scars, Aplasia cutis congenita, Skin dimple	ORPHA:79133
Hydrolethalus	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Diamond-Blackfan Anemia	Malignant genitourinary tract tumor, Acute myeloid leukemia, Adenocarcinoma of the colon, Myelody...	ORPHA:124
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Scrub Typhus	Splenomegaly, Macule, Lymphadenopathy	ORPHA:83317
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Chronic Granulomatous Disease	Skin ulcer, Splenomegaly, Macule, Hepatomegaly, Abnormality of neutrophils, Hypermelanotic macule...	ORPHA:379
Adams-Oliver Syndrome 5	Cutis marmorata telangiectatica congenita, Hypersplenism, Splenomegaly, Portal vein thrombosis, A...	OMIM:616028
Adult Syndrome	Absent nipple, Skin ulcer, Breast hypoplasia, Melanocytic nevus, Hypoplastic nipples, Thin skin	ORPHA:978
Cinca Syndrome	Papule, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrop...	ORPHA:1451
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ...	ORPHA:1332
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Immunodeficiency 10	Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym...	OMIM:612783
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Mandibuloacral Dysplasia	Abnormally large globe, Thin skin	ORPHA:2457
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Splenomegaly, Hepatomegaly, Thrombocytopenia, Microphthalmia, Ane...	ORPHA:290
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Acrofacial Dysostosis Syndrome Of Rodriguez	Thin skin	OMIM:201170
Atypical Werner Syndrome	Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Neoplasm of the thyroid gland, Neo...	ORPHA:79474
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Pituitary adenoma, Thin skin	OMIM:219090
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ...	ORPHA:169090
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Premature Aging Syndrome, Penttinen Type	Keloids, Dermal atrophy, Microphthalmia, Skin nodule, Thin skin	OMIM:601812
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Diamond-Blackfan Anemia 1	Basal cell carcinoma, Myelodysplasia, Colon cancer, Osteosarcoma	OMIM:105650
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Thin skin	OMIM:612199
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination	ORPHA:85179
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Superficial Epidermolytic Ichthyosis	Thin skin	ORPHA:455
Thyroid Lymphoma	Lymphadenopathy, Goiter	ORPHA:97285
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:602390
Osteogenesis Imperfecta, Type Ii	Thin skin	OMIM:166210
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrophic scars, Left ventricular hypertrophy, Thin skin	ORPHA:230851
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dermal atrophy, Erythematous papule	ORPHA:3406
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Papule, Skin ulcer	ORPHA:409
Kikuchi-Fujimoto Disease	Skin erosion, Skin nodule, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, ...	ORPHA:50918
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:77298
Aplasia Cutis Congenita	Aplasia cutis congenita, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital lo...	ORPHA:1114
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Cryptorchidism, Thin skin	ORPHA:1812
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Roifman Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy	OMIM:616651
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Meckel Syndrome	Accessory spleen, Cryptorchidism, Anophthalmia, Aplasia/Hypoplasia of the iris, Congenital hepati...	ORPHA:564
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Thymic Neuroendocrine Tumor	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	ORPHA:97289
Pudendal Neuralgia	Paresthesia, Allodynia	ORPHA:60039
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Marshall-Smith Syndrome	Thin skin	ORPHA:561
Adult Syndrome	Absent nipple, Dermal atrophy, Breast hypoplasia, Hypoplastic nipples, Thin skin	OMIM:103285
Cockayne Syndrome Type 1	Cryptorchidism, Anophthalmia, Hepatomegaly, Anemia, Hypermelanotic macule	ORPHA:90321
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia ...	ORPHA:436159
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi...	OMIM:619644
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Dermal atrophy	OMIM:617294
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Anaplastic Thyroid Carcinoma	Nodular goiter, Lymphadenopathy, Goiter	ORPHA:142
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Eruptive xanthomas, Pancreatitis, Splenomegaly	OMIM:207750
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cafe-au-lait spot, Thin skin	OMIM:617804
Congenital Heart Defects And Skeletal Malformations Syndrome	Cryptorchidism, Thin skin	OMIM:617602
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Thin skin	OMIM:614438
Trisomy 1Q	Cryptorchidism, Anophthalmia	ORPHA:261344
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Walker-Warburg Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:899
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre...	OMIM:613179
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Ehlers-Danlos Syndrome, Periodontal Type, 1	Atrophic scars, Thin skin	OMIM:130080
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Webbed neck, Optic nerve hypoplasia, Preauricular pit, Cryptorchidism, Cafe-au-lait spot, Thin skin	OMIM:617506
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Ane...	OMIM:266920
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Dermal atrophy, Thin skin	ORPHA:90153
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Cryoglobulinemic Vasculitis	Skin ulcer, Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Vi...	ORPHA:91138
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Congenital localized absence of skin	OMIM:132000
Pigmented Nodular Adrenocortical Disease, Primary, 1	Striae distensae, Thin skin	OMIM:610489
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased ...	ORPHA:231222
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Psoriasiform dermatitis...	OMIM:606367
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Ascites, Dermal atrophy, Hydrocele testis, Abnormality of the lymphatic system	ORPHA:69735
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Papule, Lymphadenopathy	ORPHA:343
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Abnormality of the spleen, Anophthalmia, Microphthalmia	ORPHA:2538
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Xeroderma Pigmentosum	Hypopigmented skin patches, Dermal atrophy, Melanocytic nevus, Decreased testicular size, Cryptor...	ORPHA:910
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Spinal Cord Injury	Dysesthesia, Somatic sensory dysfunction, Allodynia	ORPHA:90058
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Rapp-Hodgkin Syndrome	Supernumerary nipple, Decreased number of sweat glands, Thin skin	OMIM:129400
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Pemphigus Erythematosus	Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Thin skin	ORPHA:449291
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Geroderma Osteodysplastica	Thin skin	ORPHA:2078
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Atypical scarring of skin, Subcutaneous nodule	ORPHA:1366
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Macular hypoplasia, Hepato...	OMIM:214500
Holoprosencephaly	Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Microphthalmia, Ante...	ORPHA:2162
Glass Syndrome	Thin skin	OMIM:612313
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Spondylodysplastic Ehlers-Danlos Syndrome	Optic nerve hypoplasia, Atrophic scars, Cryptorchidism, Agenesis of pineal gland, Numerous nevi, ...	ORPHA:536471
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Erythematous plaque, Splenomegaly, Hepat...	ORPHA:398124
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Abnormal myelination	ORPHA:352682
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Cafe-au-lait spot, Splenomegaly	OMIM:618541
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Hypohidrotic Ectodermal Dysplasia	Breast aplasia, Thin skin	ORPHA:238468
Dermatosparaxis Ehlers-Danlos Syndrome	Thin skin	ORPHA:1901
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Castleman Disease	Follicular hyperplasia, Abdominal mass, Generalized lymphadenopathy, Lymphadenopathy, Thrombocyto...	ORPHA:160
De Barsy Syndrome	Cryptorchidism, Thin skin	ORPHA:2962
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Carcinoid Syndrome	Hepatic necrosis, Erythematous plaque, Chronic noninfectious lymphadenopathy	ORPHA:100093
Familial Tumoral Calcinosis	Hypopigmented skin patches, Splenomegaly, Periarticular subcutaneous nodules, Hepatomegaly, Subcu...	ORPHA:53715
Lichen Planopilaris	Hepatitis, Skin ulcer, Hypopigmented skin patches, Dermal atrophy, Papule	ORPHA:525
Graft Versus Host Disease	Skin erosion, Hemophagocytosis, Hepatosplenomegaly, Chronic hepatitis, Lichenoid skin lesion, Lym...	ORPHA:39812
Linear Skin Defects With Multiple Congenital Anomalies 2	Aplasia cutis congenita, Asymmetric, linear skin defects, Microphthalmia	OMIM:300887
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dermal atrophy, Thin skin	ORPHA:90154
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl...	ORPHA:79124
Stuve-Wiedemann Syndrome 1	Milia, Thin skin	OMIM:601559
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Increased...	ORPHA:822
Hereditary Acrokeratotic Poikiloderma	Papule, Skin ulcer, Hypopigmented skin patches, Thin skin	ORPHA:2907
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Lymph...	OMIM:603553
Neurotrophic Keratopathy	Hyperesthesia, Allodynia	ORPHA:137596
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Kaufman Oculocerebrofacial Syndrome	Preauricular skin tag, Thin skin	OMIM:244450
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Skin vesicle, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Hypoplastic nipples, Hypoplastic-...	OMIM:305100
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutrop...	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Dominant Beta-Thalassemia	Hepatic fibrosis, Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary h...	ORPHA:231226
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Aplasia cutis congenita	OMIM:612138
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Arterial Tortuosity Syndrome	Thin skin	OMIM:208050
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal testi...	ORPHA:85450
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Cushing Disease	Skin ulcer, Striae distensae, Lymphopenia, Leukocytosis, Adrenal hyperplasia, Pituitary corticotr...	ORPHA:96253
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atrophic scars, Thin skin	ORPHA:536467
Branchiooculofacial Syndrome	Dermoid cyst, Atypical scarring of skin, Supernumerary nipple, Dermal atrophy, Preauricular pit, ...	OMIM:113620
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia, Microphthalmia,...	OMIM:206900
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic...	ORPHA:288
14Q22Q23 Microdeletion Syndrome	Preauricular skin tag, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypo...	ORPHA:264200
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites	ORPHA:36412
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Sitosterolemia 1	Stomatocytosis, Giant platelets, Xanthelasma, Reticulocytosis, Splenomegaly, Episodic hemolytic a...	OMIM:210250
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Eosinophilia, Lymphocytosis, Macule, Lymphadenopathy	ORPHA:139402
Cushing Syndrome Due To Ectopic Acth Secretion	Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Striae distensae, Lymphope...	ORPHA:99889
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop...	OMIM:610377
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Beta-Thalassemia Major	Hepatic fibrosis, Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary h...	ORPHA:231214
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Milia, Congenital localized absence of skin	OMIM:226700
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Arterial Tortuosity Syndrome	Thin skin	ORPHA:3342
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Skin ulcer, Anophthalmia, Microphthalmia, Leukemia, Subcutaneous nodule	ORPHA:2526
Fibular Hemimelia	Anophthalmia, Thrombocytopenia	ORPHA:93323
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Enlarged kidn...	OMIM:615873
Adams-Oliver Syndrome	Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Aplasia/Hypoplasia of the ...	ORPHA:974
Meier-Gorlin Syndrome 1	Breast hypoplasia, Cryptorchidism, Thin skin	OMIM:224690
Hyperlipoproteinemia, Type I	Eruptive xanthomas, Hepatosplenomegaly, Splenomegaly, Jaundice, Acute pancreatitis	OMIM:238600
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Pulmonary Capillary Hemangiomatosis	Capillary malformation, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Osteogenesis Imperfecta, Type I	Thin skin	OMIM:166200
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Hyperlipoproteinemia, Type Id	Eruptive xanthomas, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Anterior pituitary hypoplasia, Thin skin	OMIM:151050
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Dermal atrophy, Anophthalmia, Aplasia/Hypoplasia of the skin, Abnorma...	ORPHA:2556
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle	ORPHA:257
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Vacterl With Hydrocephalus	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3412
Acute Promyelocytic Leukemia	Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Cryptorchidism, Anophthalmia	ORPHA:1101
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Skin ulcer, Urticarial plaque, Lymphopenia, Pancytopenia, Hepatosple...	OMIM:615688
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Sjogren Syndrome	Rheumatoid arthritis, Autoimmunity	OMIM:270150
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadeno...	ORPHA:809
Dyskeratosis Congenita	Bone marrow hypocellularity, Skin ulcer, Hypopigmented skin patches, Splenomegaly, Skin vesicle, ...	ORPHA:1775
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Capillary malformation, Webbed neck, Splenomegaly	OMIM:612918
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:1807
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Abnormal myelination, Gliosis	ORPHA:280210
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2250
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Erythematous plaque, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent ...	ORPHA:100085
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Osteochondroma	OMIM:610474
Localized Junctional Epidermolysis Bullosa	Atypical scarring of skin, Milia, Scarring alopecia of scalp, Aplasia cutis congenita, Skin detac...	ORPHA:251393
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Splenomegaly...	ORPHA:2905
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Microphthalmia	ORPHA:1553
Neuroblastoma	Lymphadenopathy, Thrombocytopenia, Anemia, Subcutaneous nodule, Abdominal mass	ORPHA:635
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Holoprosencephaly 9	Preauricular skin tag, Anterior pituitary agenesis, Decreased response to growth hormone stimulat...	OMIM:610829
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Molluscoid pseudotumors, Thin skin	OMIM:225400
Huriez Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:384
Farber Disease	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Periarticular subcutaneous nodules, Lymphadenopath...	ORPHA:333
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Dermal atrophy, Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis, T lymphocyt...	OMIM:300755
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Cryptorchidism, Thin skin	OMIM:264090
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Fraser Syndrome 1	Abnormal thymus morphology, Bilateral microphthalmos, Cryptorchidism, Anophthalmia	OMIM:219000
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Xanthelasma, Cholestasis, Splenomegaly...	ORPHA:30391
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Thin skin	ORPHA:920
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Macule, Lymphadenopathy, Hypermelanotic macule	ORPHA:32960
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Thin skin	ORPHA:536545
Carney Triad	Ascites, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Lympha...	ORPHA:168569
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Decreased response to growth hormone stimulation test, Cryptorchidism, Absence of Stensen duct, H...	OMIM:129900
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto...	ORPHA:93552
Coccidioidomycosis	Indurated nodule, Atypical scarring of skin, Urticarial plaque, Abnormality of the spleen, Abnorm...	ORPHA:228123
Poikiloderma With Neutropenia	Dermal atrophy, Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Malakoplakia	Skin ulcer, Follicular hyperplasia, Orchitis, Subcutaneous nodule, Papule	ORPHA:556
Charge Syndrome	Webbed neck, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to grow...	OMIM:214800
Q Fever	Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, Hepatomegal...	ORPHA:781
Desmosterolosis	Aplasia/Hypoplasia of the skin, Dermal atrophy, Splenomegaly	ORPHA:35107
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Orchitis, Abnormality of the lymphatic system, Vaginal hydrocel...	ORPHA:2035
Oculocerebrocutaneous Syndrome	Preauricular skin tag, Hypopigmented skin patches, Skin tags, Cryptorchidism, Aplasia/Hypoplasia ...	ORPHA:1647
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Dermal atrophy, Hepatic steatosis, Cryptorchidism	OMIM:615381
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Subcutaneous nodule	ORPHA:2833
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Dermal atrophy, ...	OMIM:127550
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Focal Dermal Hypoplasia	Focal dermal aplasia/hypoplasia, Supernumerary nipple, Dermal atrophy, Aniridia, Cryptorchidism, ...	OMIM:305600
Charge Syndrome	Webbed neck, Preauricular skin tag, Anophthalmia, Cryptorchidism, Microphthalmia, Anterior hypopi...	ORPHA:138
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune t...	OMIM:607944
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:614162
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency an...	ORPHA:37042
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Czech Dysplasia	Osteochondroma	OMIM:609162
Glycogen Storage Disease Ib	Xanthelasma, Splenomegaly, Xanthomatosis, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepatom...	OMIM:232220
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Hypoesthesia, Dementia, Distal sensory impairment, Allodynia	OMIM:603041
Adams-Oliver Syndrome 3	Aplasia cutis congenita	OMIM:614814
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Increased circulating prolactin concentration, Decreased response to growt...	ORPHA:3455
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Tooth Agenesis, Selective, 4	Thin skin	OMIM:150400
Lymphangioleiomyomatosis	Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy, Ma...	ORPHA:538
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h...	ORPHA:567983
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple...	ORPHA:3260
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Loeys-Dietz Syndrome	Striae distensae, Atypical scarring of skin, Thin skin	ORPHA:60030
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Acute Radiation Syndrome	Skin ulcer, Dermal atrophy, Lymphopenia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis, Thin skin	OMIM:606721
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Hypermobile Ehlers-Danlos Syndrome	Atypical scarring of skin, Pelvic organ prolapse, Striae distensae, Cystocele, Subcutaneous nodul...	ORPHA:285
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:1657
Multiple Myeloma	Anemia, Splenomegaly, Lymphadenopathy	ORPHA:29073
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1787
Brucellosis	Cutaneous cyst, Erythematous papule, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnor...	ORPHA:1304
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Ablepharon-Macrostomia Syndrome	Hypoplastic nipples, Thin skin	OMIM:200110
Restrictive Dermopathy 1	Skin erosion, Thin skin	OMIM:275210
Benign Schwannoma	Allodynia	ORPHA:252164
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination	OMIM:617333
Microphthalmia, Syndromic 2	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:300166
Warburg-Cinotti Syndrome	Thin skin	OMIM:618175
Multiple Osteochondromas	Scapular exostoses, Rib exostoses, Osteochondroma, Chondrosarcoma	ORPHA:321
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	ORPHA:331235
Familial Mediterranean Fever	Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy	ORPHA:342
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Proteus Syndrome	Thymus hyperplasia, Verrucous epidermal nevus, Neoplasm of the thymus, Capillary malformation, Me...	ORPHA:744
Werner Syndrome	Skin ulcer, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the testes, Abnormal testis mor...	ORPHA:902
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Hennekam Syndrome	Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma	ORPHA:2136
Porphyria, Congenital Erythropoietic	Atypical scarring of skin, Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced ...	OMIM:263700
Tolchin-Le Caignec Syndrome	Cardiac rhabdomyoma, Osteochondroma	OMIM:618971
Non-Specific Early-Onset Epileptic Encephalopathy	Abnormal myelination	ORPHA:442835
Sarcoidosis	Enlarged lacrimal glands, Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of p...	ORPHA:797
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita of scalp, Skin erosion, Atrophic scars, Milia, Scarring alopecia of scalp...	ORPHA:158684
Microphthalmia With Limb Anomalies	True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Eec Syndrome	Nevus, Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the skin, Hyp...	ORPHA:1896
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Aplasia/Hypoplasia of the skin	ORPHA:1979
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Asymmetric, linear skin defects, Microphthalmia	OMIM:300952
Vascular Ehlers-Danlos Syndrome	Cigarette-paper scars, Melanocytic nevus, Cystocele, Cryptorchidism, Macule, Subcutaneous nodule,...	ORPHA:286
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Follicular h...	OMIM:619381
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Skin ulcer, Parotitis, Chronic active hepatitis, Lymphopeni...	ORPHA:289390
Fraser Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2052
Autosomal Recessive Multiple Pterygium Syndrome	Aplasia/Hypoplasia of the skin, Webbed neck, Nevus, Cryptorchidism	ORPHA:2990
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Skin erosion, Nevus, Milia, Aplasia cutis congenita, Anemia	ORPHA:89842
Blau Syndrome	Papule, Skin ulcer, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Abnormal sal...	ORPHA:90340
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypoplastic sweat glands, Hypoplastic pilosebaceous units	OMIM:601345
Behçet Disease	Splenomegaly, Orchitis, Pancreatitis, Lymphadenopathy, Subcutaneous nodule, Papule	ORPHA:117
Chikungunya	Cervical lymphadenopathy, Skin vesicle, Macule, Lymphadenopathy	ORPHA:324625
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Microphthalmia, Syndromic 6	Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:607932
Trichorhinophalangeal Syndrome, Type Ii	Multiple long-bone exostoses, Rib exostoses, Osteochondroma, Osteoma, Scapular exostoses	OMIM:150230
Cockayne Syndrome B	Atypical scarring of skin, Hypoplasia of the iris, Dermal atrophy, Cryptorchidism, Splenomegaly, ...	OMIM:133540
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Hepatomegaly, Generalized lymphadenopat...	OMIM:615846
Barber-Say Syndrome	Breast aplasia, Aplasia/Hypoplasia of the skin, Hypoplastic nipples	ORPHA:1231
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot...	ORPHA:79078
Autosomal Recessive Malignant Osteopetrosis	Anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:667
Xeroderma Pigmentosum, Complementation Group A	Dermal atrophy, Hypermelanotic macule, Erythematous papule, Verrucous epidermal nevus	OMIM:278700
Dysosteosclerosis	Aplasia/Hypoplasia of the skin	ORPHA:1782
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Hepatomegaly, ...	OMIM:181000
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing cholangitis...	ORPHA:449395
Crimean-Congo Hemorrhagic Fever	Parotitis, Ascites, Leukopenia, Pancytopenia, Leukocytosis, Splenomegaly, Cholecystitis, Orchitis...	ORPHA:99827
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Ascites, Autoimmune ...	OMIM:619573
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Lympha...	ORPHA:449563
Proteasome-Associated Autoinflammatory Syndrome 1	Parotitis, Microcytic anemia, Splenomegaly, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thromboc...	OMIM:256040
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Atrophic scars, Milia, Aplasia cutis congenita, Aplasia cutis congenita on trunk or limbs, Anemia	ORPHA:79396
Cutis Marmorata Telangiectatica Congenita	Skin erosion, Ascites, Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots	ORPHA:1556
Neuroendocrine Neoplasm Of Appendix	Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphad...	ORPHA:100079
Xeroderma Pigmentosum, Complementation Group B	Dermal atrophy, Microphthalmia	OMIM:610651
Subacute Cutaneous Lupus Erythematosus	Dermal atrophy, Annular cutaneous lesion	ORPHA:163525
Epidermolysis Bullosa, Lethal Acantholytic	Skin erosion, Aplasia cutis congenita	OMIM:609638
Xeroderma Pigmentosum, Complementation Group D	Dermal atrophy, Microphthalmia	OMIM:278730
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Neoplasm of the liver, Pa...	ORPHA:653
Rothmund-Thomson Syndrome	Aplastic anemia, Aplasia/Hypoplasia of the skin, Anemia, Neutropenia, Leukemia	ORPHA:2909
Malignant Atrophic Papulosis	Dermal atrophy, Peritonitis, Papule	ORPHA:679
Plague	Localized skin lesion, Lymphadenitis, Skin ulcer, Splenomegaly, Hepatomegaly, Enlarged mesenteric...	ORPHA:707
Hallermann-Streiff Syndrome	Dermal atrophy, Cryptorchidism, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Dermal atrophy, Pancytopenia, Decreased testicular size, Leukopenia,...	OMIM:305000
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Monosomy 18Q	Astrocytoma, Abnormal myelination	ORPHA:1600
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:536
Pallister-Hall Syndrome	Midline facial capillary hemangioma, Hypothalamic hamartoma, Osteochondroma	ORPHA:672
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Milia, Atypical scarring of skin, Anemia	ORPHA:2908
Microphthalmia, Syndromic 1	Webbed neck, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:309800
African Trypanosomiasis	Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatomegaly, Jaundi...	ORPHA:3385
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Astrocytosis, Abnormal myelination	ORPHA:309854
Oculoectodermal Syndrome	Preauricular skin tag, Supernumerary nipple, Epidermal nevus, Pineal cyst, Aplasia cutis congenita	OMIM:600268
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Abnormal CNS myelination, Abnormal myelination, Gliosis	OMIM:620371
Leptospirosis	Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:509
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Abnormal myelination, Delayed myelination, Gliosis	ORPHA:404454
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy	ORPHA:466768
Craniofacial Microsomia 1	Preauricular skin tag, Anophthalmia, Microphthalmia	OMIM:164210
Toriello-Lacassie-Droste Syndrome	Aplasia/Hypoplasia of the skin	ORPHA:3339
Cockayne Syndrome Type 3	Astrocytosis, Abnormal myelination, Demyelinating peripheral neuropathy	ORPHA:90324
Dermatomyositis	Abnormal eosinophil morphology, Skin ulcer, Aplasia/Hypoplasia of the skin, Gottron's papules, Pa...	ORPHA:221
Lenz-Majewski Hyperostotic Dwarfism	Aplasia/Hypoplasia of the skin, Cryptorchidism	ORPHA:2658
Kindler Syndrome	Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy	OMIM:173650
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Atrophic scars, Milia, Iron deficiency anemia, Aplasia cutis congenita, Anemia	ORPHA:79408
Degcags Syndrome	Abnormal myelination	OMIM:619488
Orofaciodigital Syndrome Type 14	Abnormal myelination	ORPHA:434179

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 Ptprz1

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 Ptprz1.

No publications found that use IMPC mice or data for Ptprz1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Ptprz1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Ptprz1^{tm96469(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Ptprz1 MGI:97816

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Ptprz1 mutations

Histopathology

IMPC related publications

External links

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.1 Data