Gene Summary

Name:
protein tyrosine phosphatase receptor type Z, polypeptide 1
Synonyms:
PTPzeta,  Rptpbeta,  Ptprz,  Ptpz,  phosphacan,  RPTPz,  DSD-1-PG,  PTPbeta

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thin skin Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
anophthalmia Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Ptprz1em1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 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.

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 Similarity of
phenotypes
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