Not currently registered for phenotyping at IMPC

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

Gene Summary

lymphocyte antigen 6 complex, locus A
Ly-6E.1,  Ly-6A.2,  TAP,  Sca-1,  Sca1,  Ly-6A/E

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ly6a 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 Ly6a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Thrombocytopenia, Cyclic
Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Classic Mycosis Fungoides
Hypopigmented skin patches, Hepatomegaly, Skin plaque, Neoplasm of the skin, Lymphadenopathy, Ery... ORPHA:2584
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia, Bruising susceptibility OMIM:188000
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Extensor Tendons Of Finger Anomalies
Multiple lipomas, Osteoporosis, Limitation of joint mobility, Camptodactyly of finger ORPHA:3294
Necrobiosis Lipoidica
Skin nodule, Annular cutaneous lesion, Skin ulcer, Erythema, Indurated nodule, Atrophic scars, Pa... ORPHA:542592
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Thrombocytopenia, Epistaxis, Impaired ristocetin-induced platelet... OMIM:231200
Thrombocytopenic Purpura, Autoimmune
Abnormal bleeding, Thrombocytopenia OMIM:188030
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... OMIM:600208
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleedi... OMIM:155100
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Basal cell carcinoma, Papule, Squamous cell carcinoma, Apla... ORPHA:409
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo... ORPHA:231393
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Camptodactyly, Joint contracture of the hand, Osteopenia OMIM:264010
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... ORPHA:158057
Immunodeficiency 12
Osteoporosis OMIM:615468
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Recurrent fractures, Osteoporosis OMIM:256720
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Petechiae, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... OMIM:612840
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Congenital Panfollicular Nevus
Verrucous papule, Hamartoma, Skin nodule, Hyperkeratosis ORPHA:139414
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Osteoporosis OMIM:166710
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Lymphaden... ORPHA:824
Ollier Disease
Hemangioma, Visceral angiomatosis, Lymphangioma, Anemia, Neoplasm, Chondrosarcoma, Sarcoma, Subcu... ORPHA:296
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Generalize... OMIM:277950
Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged... ORPHA:238459
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Increased circu... OMIM:614470
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re... OMIM:618986
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Von Willebrand Disease, Type 3
Menorrhagia, Thrombocytopenia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal ble... OMIM:277480
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Thickened skin, Erythema, Fibrosarcoma, Subcutaneous nodule, Skin ulcer ORPHA:31112
Fechtner syndrome
Menorrhagia, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Prolonged bleeding time, Gi... OMIM:153640
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Ichthyosis, Splenomegaly ORPHA:2274
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Erythrokeratoderma ''En Cocardes''
Neoplasm of the skin, Papule, Neoplasm, Hyperkeratosis ORPHA:315
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Annular cutaneous lesion, Palmoplantar hyperkeratosis, Skin plaque, Poroke... ORPHA:737
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Myelodysplasia OMIM:162830
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P... OMIM:187800
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Anal canal squamous carcinoma, Verrucae, Squamous cell carcinoma, Squamous cel... ORPHA:217390
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, P... OMIM:619271
Hepatomegaly, Leukopenia, Lymphadenopathy, Skin ulcer, Anemia, Splenomegaly, Abnormal macrophage ... ORPHA:507
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, Re... OMIM:619281
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... OMIM:314050
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Prolonged bleeding time, Abnor... OMIM:601399
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Hyaline Fibromatosis Syndrome
Progressive flexion contractures, Osteoporosis, Osteolysis, Osteopenia OMIM:228600
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Chilblain Lupus
Erythematous papule, Chronic myelomonocytic leukemia, Skin ulcer, Hyperkeratosis ORPHA:90280
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis OMIM:131800
Reticular Dysgenesis
Leukopenia, Anemia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Skin ulcer ORPHA:33355
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Dorsocervical fat pad, Osteoporosis, Joint laxity OMIM:616033
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis, Squamous cell carcinoma, Recurrent cutaneous abscess formation OMIM:613736
Palmoplantar Keratoderma, Norrbotten Recessive Type
Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Bone Marrow Failure Syndrome 2
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding OMIM:314000
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Abnormal bleeding, Thrombocytopenia, Eosinophilia ORPHA:517
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Pyoderma gangrenosum, Lymphadenopathy, Ab... OMIM:150550
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Pancreatoblastoma, Oropharyngeal squ... ORPHA:443167
Myh9-Related Disease
Menorrhagia, Neutrophil inclusion bodies, Increased mean platelet volume, Spontaneous, recurrent ... ORPHA:182050
+173470 integrin, beta-3
Menorrhagia, Intracranial hemorrhage, Post-transfusion thrombocytopenia, Gingival bleeding, Epist... OMIM:173470
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Skin ulcer ORPHA:2337
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Punctate Palmoplantar Keratoderma Type 1
Brain neoplasm, Palmoplantar keratoderma, Basal cell carcinoma, Neoplasm of the skeletal system, ... ORPHA:79501
Forsythe-Wakeling Syndrome
Thrombocytopenia, Osteoporosis OMIM:613606
Hypopigmented skin patches, Verrucous papule, Hyperkeratotic papule, Lymphangiectasis, Multiple c... ORPHA:182
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Yellow papule, Hypergranulosis, Orthokeratosis, Piezogenic pedal papules, ... ORPHA:38
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Bazex Syndrome
Acanthosis nigricans, Liposarcoma, Lung adenocarcinoma, Palmoplantar keratoderma, Anemia, Neoplas... ORPHA:166113
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Sterile abscess, Pyoderma gangrenosum, Hepatosplenomegaly, Microcytic anemia, Pan... OMIM:604416
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Papule, Multiple cafe-au-lait spots ORPHA:1336
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma OMIM:613988
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Elevated hepatic iron concentration, Hepatocel... ORPHA:231222
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Recurrent fractures, Osteoporosis, Reduced subcutaneous adipose tissue, Joint laxity OMIM:248010
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increas... ORPHA:822
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Abnormality of complement system, Decreased serum complement f... ORPHA:2134
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the lymphatic system, Abnormal lymphocyte m... ORPHA:229717
Porokeratosis Of Mibelli
Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Abnormal bleeding, Thrombocytopenia... ORPHA:231401
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... ORPHA:849
Cutaneous Neuroendocrine Carcinoma
Skin nodule, Erythematous plaque, Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell... ORPHA:79140
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... OMIM:615234
Gray Platelet Syndrome
Abnormality of thrombocytes, Epistaxis, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Bruisi... ORPHA:721
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Bone marrow hypocellularity, Splenomegaly,... ORPHA:3226
Acquired Ichthyosis
Multiple myeloma, Erythema, Palmoplantar keratoderma, Neoplasm, Lymphoma, Sarcoma, Papule, Ichthy... ORPHA:454
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... OMIM:137560
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... OMIM:187900
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Schopf-Schulz-Passarge Syndrome
Apocrine hidrocystoma, Palmoplantar keratoderma, Basal cell carcinoma, Squamous cell carcinoma, P... OMIM:224750
Verrucous Hemangioma
Hyperkeratotic papule, Skin plaque, Hemangioma, Papilloma ORPHA:464318
Mu-Heavy Chain Disease
Abnormal B cell count, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Anemia, Spontaneous hematomas, Abnormal bleeding, Macrothrombocytopenia OMIM:616176
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia ORPHA:53697
Familial Keratoacanthoma
Adenoma sebaceum, Neoplasm, Papule, Hyperkeratosis, Subcutaneous nodule, Papilloma, Skin ulcer ORPHA:493
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosiform erythroder... ORPHA:312
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Scarring alopecia of scalp, Squamous cell carcinoma, Ichthyosis, Hyperk... OMIM:602540
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:613554
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Insulin-Resistance Syndrome Type A
Subcutaneous nodule, Hyperkeratosis ORPHA:2297
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Hepatosplenomegaly, Hemophagocytosis, Skin ulcer ORPHA:86884
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, Increased ci... OMIM:600903
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating Ig... OMIM:618987
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Proteus Syndrome
Epidermal nevus, Nevus, Hemangioma, Lymphangioma, Splenomegaly, Lipoma, Hyperkeratosis, Multiple ... OMIM:176920
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Palmar pits OMIM:618267
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... OMIM:614074
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Ichthyosis, Autoimmune hemolytic anemia OMIM:618495
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Nevus, Atrophic scars, Skin erosion, Aplasia cutis congenita on trunk or limbs, Milia, Hyperkerat... ORPHA:89838
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Osteoporosis, Reduced bone mineral density ORPHA:2410
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma, Porokeratosis ORPHA:79152
Anemia, Neutropenia, Splenomegaly OMIM:602079
Hermansky-Pudlak Syndrome 6
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... OMIM:614075
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Lichen Planopilaris
Hypopigmented skin patches, Hepatitis, Dermal atrophy, Neoplasm of the oral cavity, Papule, Hyper... ORPHA:525
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:616435
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 84
B lymphocytopenia, B-cell lymphoma, Perianal abscess, Splenomegaly OMIM:619437
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Spotty hypopigmentation, Hypomelanotic macule, Papule, Milia, Hyperkerato... ORPHA:79399
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Atrophoderma Vermiculata
Hyperkeratotic papule, Skin pit, Periauricular skin pits, Atrophic scars, Erythema, Hypoplastic p... ORPHA:79100
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Bone marrow hypocellularity, Anemia, Retic... ORPHA:88
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Hypermelanotic macule, Hyperkeratosis ORPHA:69125
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Neutropenia, Recurrent cutaneous abscess formation, Abnormality of th... ORPHA:47
Ichthyosis, Lamellar, Autosomal Dominant
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Persistence of hemoglo... ORPHA:231226
Brooke-Spiegler Syndrome
Multiple cutaneous malignancies, Skin appendage neoplasm, Skin nodule, Basal cell carcinoma, Nodu... ORPHA:79493
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Dermal atrophy, Squamous cell carcinoma, Dry skin, Melanoma ORPHA:90342
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Inguinal hernia ORPHA:2958
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... ORPHA:231214
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Mantle Cell Lymphoma
Lymphadenopathy, B-cell lymphoma, Splenomegaly ORPHA:52416
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Petechiae, Melena, Decreased circulat... OMIM:301000
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Juvenile Hyaline Fibromatosis
Papule, Aplasia/Hypoplasia of the skin, Gingival fibromatosis, Subcutaneous nodule, Skin ulcer ORPHA:2028
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Myelodysplasia, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcy... ORPHA:846
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Squamous cell carcinoma OMIM:618373
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Palmoplantar keratoderma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, G... OMIM:263300
Pyoderma Gangrenosum
Myelodysplasia, Atrophic scars, Papule, Myeloid leukemia, Skin ulcer, Skin vesicle ORPHA:48104
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Osteoporosis, Amelogenesis imperfecta, Joint laxity OMIM:614727
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618261
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia OMIM:617243
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Prolonge... ORPHA:3318
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, White papule, Skin plaque, Excessive ski... ORPHA:498359
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Inguinal hernia OMIM:309610
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Macule, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly, Papule ORPHA:37748
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Chronic Granulomatous Disease
Hepatomegaly, Macule, Mediastinal lymphadenopathy, Skin ulcer, Splenomegaly, Abnormality of neutr... ORPHA:379
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis OMIM:613849
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Petechiae, Recurrent cutaneous abscess for... OMIM:619374
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Lichtenstein Syndrome
Increased susceptibility to fractures, Osteoporosis, Enamel hypoplasia, Neutropenia OMIM:246550
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Palmoplantar keratoderma, Parakeratosis, Follicular hyperkeratosis, Squamous cell carc... OMIM:615225
Prolidase Deficiency
Hepatomegaly, Erythema, Palmoplantar keratoderma, Thin skin, Splenomegaly, Hyperkeratosis, Papule... ORPHA:742
Pachyonychia Congenita 4
Palmoplantar keratoderma, Steatocystoma multiplex, Hyperkeratosis OMIM:615728
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Lipodystrophy, Osteoporosis OMIM:616000
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Erythematous plaque, Anemia, Splenomegaly, Abnormali... ORPHA:398124
Immunodeficiency 55
Myelodysplasia, Neutropenia, Lymphadenopathy, Ichthyosis, Dry skin OMIM:617827
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Monocytosis, Leukemia, Pyoderma gangre... ORPHA:486
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Fanconi Anemia, Complementation Group P
Pancytopenia, Anemia, Squamous cell carcinoma, Cafe-au-lait spot OMIM:613951
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Increased susceptibility to fractures, Osteoporosis, ... OMIM:259450
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Skin nodule ORPHA:26137
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Dentinogenesis imperfecta ORPHA:71267
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Osteoporosis ORPHA:85193
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Prolidase Deficiency
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Ski... OMIM:170100
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... OMIM:259720
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Increased susceptibility to fractures, Osteoporosis, Osteopenia OMIM:612287
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Subcutaneous nodule, Skin ulcer, Recurrent cutaneous abscess formation ORPHA:231
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Knee flexion con... OMIM:214150
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Sarcoma, Mastocytosis ORPHA:66661
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Lymphopenia, T lymphocytopenia OMIM:619164
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Neoplasm of the skin, Recurrent cutaneous abscess formation, Cigarett... ORPHA:678
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy... ORPHA:424019
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Indolent Systemic Mastocytosis
Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increased proportion of CD25+ mast cel... ORPHA:98848
Meige Disease
Lymph node hypoplasia, Angiosarcoma, Absence of lymph node germinal center, Skin erosion, Atypica... ORPHA:90186
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Dermal atrophy, Papule, Milia, Hyperkeratosis, Subcutaneous nodule, Skin plaque ORPHA:89843
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:617443
Lymphoproliferative Syndrome 1
Leukopenia, Decreased circulating IgG level, Decreased circulating antibody level, Anemia, Spleno... OMIM:613011
Gnathodiaphyseal Dysplasia
Increased susceptibility to fractures, Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis OMIM:166260
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Skin nodule, Erythematous plaque, Pyod... ORPHA:3243
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Juvenile Paget Disease
Cranial hyperostosis, Recurrent fractures, Osteoporosis, Coarse metaphyseal trabecularization ORPHA:2801
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma, Atrophic scars, Anemia, Milia OMIM:226600
Hermansky-Pudlak Syndrome 2
Neutropenia, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plate... OMIM:608233
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Rothmund-Thomson Syndrome
Neoplasm of the skin, Neutropenia, Myelodysplasia, Leukemia, Basal cell carcinoma, Anemia, Squamo... ORPHA:2909
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Splenomegaly ORPHA:79301
Werner Syndrome
Cutaneous melanoma, Ovarian neoplasm, Thyroid carcinoma, Meningioma, Neoplasm of the lung, Acral ... ORPHA:902
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Epistaxis, Poikilocytosis, Congenital thrombocytopenia, Persistent ble... OMIM:300367
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... OMIM:300853
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage OMIM:243500
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Verrucae, Papule, Squamous cell carcinoma, Multiple cafe-au-lait spot... ORPHA:302
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis ORPHA:2812
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis OMIM:212360
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin OMIM:618309
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Sialidosis Type 2
Osteoporosis, Inguinal hernia, Splenomegaly, Flexion contracture, Umbilical hernia ORPHA:87876
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Cutis laxa, Annular cutaneous lesion, Erythematous papule, Skin-colored pa... ORPHA:79148
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Abnormality of the liver, Pur... ORPHA:91138
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Bruising susceptibility, Epistaxis, Prolonged bleeding time OMIM:614158
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Increased susceptibility to fractures, Osteoporosis, Osteopenia OMIM:612286
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform eryt... OMIM:604777
Infantile Myofibromatosis
Neoplasm of the skin, Neoplasm of the lung, Neoplasm of the pancreas, Sarcoma, Fibroma, Benign ne... ORPHA:2591
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Acquired Purpura Fulminans
Macule, Macular purpura, Pyoderma gangrenosum, Neoplasm, Erythematous macule, Thrombocytopenia ORPHA:49566
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteoporosis, Osteopenia OMIM:126550
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Neutropenia, Myelodysplasia, Leukemia, Basal cell carcinoma, Anemia, Dermal... ORPHA:221008
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Anemia, Pure red cell aplasia OMIM:618165
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Neutropenia, Myelodysplasia, Leukemia, Erythema, Anemia, Basal cell carcino... ORPHA:221016
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Ly... OMIM:617780
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:231095
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Ehlers-Danlos Syndrome, Classic-Like, 2
Atrophic scars, Osteoporosis, Inguinal hernia, Ventral hernia, Cellulitis, Osteoarthritis, Umbili... OMIM:618000
Acrokeratosis Verruciformis Of Hopf
Verrucae, Skin-colored papule, Hypergranulosis, Hyperkeratosis, Punctate palmoplantar hyperkerato... ORPHA:79151
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Aregenerative Anemia
Neutropenia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleuki... ORPHA:101096
Thrombocytopenia 1
Petechiae, Increased circulating IgA level, Decreased mean platelet volume, Joint hemorrhage, Epi... OMIM:313900
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density, Umbilical hernia OMIM:614856
Takayasu Arteritis
Subcutaneous nodule, Anemia, Skin ulcer ORPHA:3287
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Skin ulcer ORPHA:1114
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Cutis laxa, Ichthyosis, Hyperkeratosis OMIM:612379
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Neoplasm of the skin, Skin fissure, Neoplasm of the lung, Thickened skin, Palmoplantar keratoderm... ORPHA:659
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage, Subcutaneous hemorrhage, T... OMIM:603585
Bruck Syndrome
Joint stiffness, Recurrent fractures, Osteoporosis, Arthrogryposis multiplex congenita ORPHA:2771
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... ORPHA:86841
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Thrombocytopenia, Anemia ORPHA:673
Chilblain Lupus 1
Skin ulcer OMIM:610448
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Immunodeficiency 37
Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-... OMIM:616098
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... OMIM:193400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Chondroectodermal Dysplasia With Night Blindness
Fractures of the long bones, Osteoporosis, Osteopenia ORPHA:319195
Autoinflammation With Infantile Enterocolitis
Thrombocytopenia, Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural kil... OMIM:616050
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Lymphoma, Splenomegaly ORPHA:100025
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Splenomegaly, Follicular hyperkeratosis, Hypereosinophilia, Laryngeal papilloma, Dr... OMIM:617388
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery... ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis OMIM:617571
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Amed Syndrome, Digenic
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphoproliferative disorder, Lymphadenop... OMIM:615688
Ichthyosis Hystrix Of Curth-Macklin
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Dowling-Degos Disease
Hyperkeratotic papule, Epidermoid cyst, Keratoacanthoma, Palmar pits, Erythematous papule, Digita... ORPHA:79145
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Decreased ... OMIM:619375
Perrault Syndrome 1
Osteoporosis OMIM:233400
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Increased circulating IgG level, ... OMIM:618982
Sézary Syndrome
Hepatomegaly, Neoplasm of the skin, Lymphadenopathy, Abnormal lymphocyte morphology, Palmoplantar... ORPHA:3162
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, B lymphocytopenia, Agammaglobulinemia, Neutropenia OMIM:601495
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Erythroid hyperplasia, Leukopenia, Thickened skin, Scarring alopecia of sca... ORPHA:79277
Free Sialic Acid Storage Disease
Hepatomegaly, Skin ulcer, Ascites, Splenomegaly ORPHA:834
Tenosynovial Giant Cell Tumor
Chondrocalcinosis, Limitation of joint mobility, Joint stiffness, Localized osteoporosis, Osteolysis ORPHA:66627
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Osteoporosis, Anemia, Pathologic fracture,... ORPHA:98850
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Splenomegaly OMIM:615846
Livedoid Vasculopathy
Ecchymosis, Leukocytosis, Macular purpura, Polycythemia, Erythematous papule, Atrophic scars, Ane... ORPHA:542643
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Abnormal bleeding, Decreased circulating antibody level, Lymphopenia ORPHA:1116
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Enamel hypoplasia, Osteoporosis OMIM:612463
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Osteoporosis, Joint laxity, Osteopenia ORPHA:2788
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Generalized lipodystrophy, Osteopenia ORPHA:50811
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Neoplasm of the skin, Macule, Erythema, Hyperkeratosis, Dry s... ORPHA:317
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Thickened skin, Anemi... OMIM:603554
Hutchinson-Gilford Progeria Syndrome
Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis OMIM:176670
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Skin detachment... ORPHA:228119
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Petechiae, Hypoplasia of the thymus, Chronic leukemia, R... ORPHA:906
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture OMIM:307030
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hemochromatosis Type 2
Osteoporosis ORPHA:79230
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity OMIM:613987
Excessive wrinkled skin, Skin ulcer, Thin skin, Aplasia/Hypoplasia of the skin ORPHA:2500
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Erythema, Anemia OMIM:608068
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Osteoporosis OMIM:234250
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Thickened skin, Abnormal lymphocyte morphology, Anem... ORPHA:39041
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia ORPHA:369
Dermatosparaxis Ehlers-Danlos Syndrome
Scarring, Rickets, Osteoporosis, Abnormality of subcutaneous fat tissue, Hernia, Osteopenia, Hiat... ORPHA:1901
Bone cyst, Osteoporosis, Abnormal bone structure, Osteomyelitis, Painless fractures due to injury... ORPHA:2583
Warburg Micro Syndrome 1
Joint hypermobility, Osteoporosis OMIM:600118
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Bloom Syndrome
Spotty hypopigmentation, Leukemia, Lymphoma, Squamous cell carcinoma, Cafe-au-lait spot OMIM:210900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Kindler Epidermolysis Bullosa
Neoplasm of the urethra, Erythema, Anemia, Palmoplantar keratoderma, Atypical scarring of skin, S... ORPHA:2908
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis OMIM:259730
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia OMIM:601457
Acquired Partial Lipodystrophy
Lymphocytosis, Decreased serum complement C3 ORPHA:79087
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Decreased circulating antibody level, Reduced natural killer cell count, Peria... OMIM:618108
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Spontaneous, ... ORPHA:274
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Cranioectodermal Dysplasia
Craniosynostosis, Osteoporosis, Abnormal dental enamel morphology, Joint hyperflexibility ORPHA:1515
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Dyskeratosis Congenita
Hypopigmented skin patches, Hepatomegaly, Macule, Palmoplantar keratoderma, Anemia, Neoplasm of t... ORPHA:1775
Infantile Digital Fibromatosis
Hyperkeratosis, Skin nodule, Parakeratosis ORPHA:199267
Immunodeficiency 11
Decreased circulating antibody level OMIM:615206
Autoimmune Hemolytic Anemia
Hemolytic anemia, Lymphoma, Splenomegaly, Pallor, Abnormal leukocyte morphology ORPHA:98375
Hereditary Sensory And Autonomic Neuropathy Type 1