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Gene: Rbm38 MGI:1889294

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
RNA binding motif protein 38
Synonyms:
Seb4l,  Rnpc1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rbm38 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 Rbm38 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Subcutaneous nodule, Skin ulcer, Multiple enchondromatosis... ORPHA:296
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Necrobiosis Lipoidica
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Squamous cell carcinoma, Atrophic scars, Ann... ORPHA:542592
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, He... ORPHA:824
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Erythema, Lymphoma, Hypopigmented skin pat... ORPHA:2584
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia... ORPHA:3319
Reticular Dysgenesis
Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypop... ORPHA:33355
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Mantle Cell Lymphoma
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Isolated Agammaglobulinemia
Failure to thrive, Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abno... ORPHA:229717
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Subcutaneous nodule, Hepa... OMIM:612840
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Scoliosis, Anemia ORPHA:2802
X-Linked Agammaglobulinemia
Failure to thrive, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic sys... ORPHA:47
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts OMIM:182170
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss ORPHA:2023
Meige Disease
Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Angiosarcoma, Skin ... ORPHA:90186
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion co... OMIM:604416
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... ORPHA:86884
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Rhabdoid Tumor
Renal neoplasm, Subcutaneous nodule, Lymphadenopathy, Neoplasm of the central nervous system, Ane... ORPHA:69077
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Subcutaneous nodule, Gingival f... ORPHA:2028
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... ORPHA:66661
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal sacrum morpholo... ORPHA:2591
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, B l... ORPHA:217390
Chilblain Lupus
Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia ORPHA:90280
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... ORPHA:86893
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Skin ulcer, Squamous cell carcinoma, Basal cell carcinoma, Papule ORPHA:409
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Prolidase Deficiency
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Thrombocy... OMIM:170100
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... ORPHA:75564
Pyoderma Gangrenosum
Myelodysplasia, Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule ORPHA:48104
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... OMIM:617021
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Kaposi Sarcoma
Macule, Generalized lymphadenopathy, Lymphoproliferative disorder, Hypermelanotic macule, Abnorma... ORPHA:33276
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Acrogeria
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Excessive wrinkled skin, Thin skin, Scol... ORPHA:2500
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Lymphoma, Mediastinal lymphadenopathy,... ORPHA:545
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Lymphopenia, Aplastic anemia, Eosinophilia, Myelodysplasia, Pyoderma gang... ORPHA:486
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Ascites ORPHA:834
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Takayasu Arteritis
Anemia, Subcutaneous nodule, Skin ulcer, Weight loss ORPHA:3287
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia OMIM:614082
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Junctional Epidermolysis Bullosa Inversa
Localized skin lesion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous m... ORPHA:79405
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Skin nodule, Leukocytosis, Pyoderma... ORPHA:3243
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, Lymphadenopathy, B lymph... OMIM:150550
Milroy Disease
Angiosarcoma, Neoplasm of the skin, Cellulitis ORPHA:79452
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Proteus Syndrome
Epidermal nevus, Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Multiple lipomas, Nevus, Li... OMIM:176920
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short neck, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Scoliosis, Fibroma OMIM:619750
Werner Syndrome
Renal neoplasm, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodystrophy, Acral lentiginous mel... ORPHA:902
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Acquired Purpura Fulminans
Macule, Erythematous macule, Pyoderma gangrenosum, Neoplasm, Macular purpura, Hepatic failure, Th... ORPHA:49566
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, B... ORPHA:79493
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous m... ORPHA:79406
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Acquired Ichthyosis
Lymphoma, Erythema, Neoplasm, Multiple myeloma, Dry skin, Papule, Sarcoma ORPHA:454
Dracunculiasis
Subcutaneous nodule, Flexion contracture, Skin ulcer, Cellulitis ORPHA:231
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Alpha-Thalassemia Myelodysplasia Syndrome
Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Schnitzler Syndrome
Macule, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Papule, Anemia ORPHA:37748
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous melanoma, ... ORPHA:79411
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Lymphoproliferative... OMIM:615688
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Aicardi Syndrome
Skin tags, Block vertebrae, Hiatus hernia, Hemivertebrae, Teratoma, Carcinoma, Lipoma, Scoliosis,... OMIM:304050
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Subcutaneous nodule, Cervical lymphadenopathy, Weight los... ORPHA:514
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Lymphoma, Skin ulcer, Scoliosis, Cellulitis, Skin vesicle, Papule ORPHA:2314
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss, Hepatomegaly ORPHA:79238
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... ORPHA:318
Neutrophilic Dermatosis, Acute Febrile
Panniculitis, Erythema, Pyoderma gangrenosum, Anemia OMIM:608068
Flynn-Aird Syndrome
Cachexia, Kyphosis, Skin ulcer, Dermal atrophy, Scoliosis ORPHA:2047
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Fibrodysplasia Ossificans Progressiva
Spinal rigidity, Subcutaneous nodule, Failure to thrive, Abnormal vertebral morphology, Anemia ORPHA:337
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Dyskeratosis Congenita
Macule, Neoplasm of the pancreas, Hepatomegaly, Aplasia/Hypoplasia of the skin, Hypermelanotic ma... ORPHA:1775
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Erythema, Skin ulcer ORPHA:2337
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... ORPHA:98826
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Abnormality... ORPHA:91138
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Squamous cel... ORPHA:79410
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia, Abnormal form of the vertebral bodies ORPHA:1802
Sandhoff Disease
Splenomegaly, Failure to thrive, Kyphosis, Hepatomegaly ORPHA:796
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... ORPHA:98849
Chronic Granulomatous Disease
Macule, Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Splenomeg... ORPHA:379
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... ORPHA:98850
Fusariosis
Fasciitis, Hematological neoplasm, Abnormality of the spleen, Peritonitis, Subcutaneous nodule, N... ORPHA:228119
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Felty Syndrome
Hepatomegaly, Cellulitis, Thrombocytopenia, Subcutaneous nodule, Splenomegaly, Lymphoma, Lymphade... ORPHA:47612
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Neoplasm of the oral cavity, P... ORPHA:525
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm of the lung, Neoplasm of t... ORPHA:424019
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Atrophic scars, Aplasia cutis congenita, Enamel hypoplasia, Milia, An... ORPHA:79402
Progressive Osseous Heteroplasia
Macule, Hypermelanotic macule, Subcutaneous nodule, Papule, Sarcoma ORPHA:2762
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia OMIM:616576
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Wilson Disease
Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Splenomegaly, Jaun... ORPHA:905
Rosaï-Dorfman Disease
Erythema, Subcutaneous nodule, Lymphadenopathy, Papule, Anemia ORPHA:158014
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Scoliosis OMIM:617404
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... OMIM:615234
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Multicentric Reticulohistiocytosis
Skin nodule, Cachexia, Histiocytosis ORPHA:139436
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Prolidase Deficiency
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Skin ulcer, Thin skin, Dry ... ORPHA:742
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous... ORPHA:542643
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Congenital Toxoplasmosis
Macule, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardiomegaly, ... ORPHA:858
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Skin ulcer, Weight loss ORPHA:312
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive ORPHA:172
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Pallor, Hypochromic ... OMIM:600462
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Weight loss ORPHA:141152
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Autoimmune... OMIM:615559
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... ORPHA:391
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Familial Keratoacanthoma
Subcutaneous nodule, Skin ulcer, Neoplasm, Adenoma sebaceum, Papilloma, Papule ORPHA:493
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Tufted Angioma
Petechiae, Thrombocytopenia, Localized skin lesion, Neoplasm of the skin, Facial hemangioma, Hema... ORPHA:1063
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Redundant neck skin, Short neck, Weight loss, Hernia, Failure to thrive, Anemia ORPHA:1842
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... OMIM:255600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... OMIM:600175
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ganglioneuroblastoma, Skin nodule, Weight loss, Neuroblastoma, Failure to thrive,... OMIM:256700
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Gray Platelet Syndrome
Splenomegaly, Myelodysplasia, Thrombocytopenia ORPHA:721
Nephronophthisis
Anemia ORPHA:655
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Immunodeficiency 84
Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc... OMIM:602484
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Weight loss ORPHA:100083
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Pelvic m... ORPHA:370348
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... OMIM:616871
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Eosinophilic Fasciitis
Macule, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, Weight loss... ORPHA:3165
Dermatomyositis
Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Er... ORPHA:221
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... ORPHA:906
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Epidermoid cyst, Adrenocortical carcinoma, Pilomatrixoma, ... ORPHA:247806
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Epidermoid cyst, Brain neoplasm, Hepatoblastoma, Adrenocor... ORPHA:79665
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra... ORPHA:77297
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Chilblain Lupus 1
Skin ulcer OMIM:610448
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... ORPHA:443167
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ... OMIM:619151
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Weight... ORPHA:33577
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... OMIM:618849
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hyperlordosis ORPHA:1192
Acute Radiation Syndrome
Skin ulcer, Dermal atrophy, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer ORPHA:220402
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Rigid Spine Syndrome
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... ORPHA:97244
Toxic Epidermal Necrolysis
Macule, Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Erythema, Skin ul... ORPHA:537
Bazex Syndrome
Neoplasm, Scaling skin, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... ORPHA:54251
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Cowden Syndrome
Subcutaneous nodule, Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, P... ORPHA:201
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... OMIM:600561
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Thrombocytopenia 5
Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... OMIM:618398
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Ascites, Anemia ORPHA:75233
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Thymoma
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... ORPHA:99867
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Oslam Syndrome
Neoplasm, Anemia, Osteosarcoma OMIM:165660
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Familial Adenomatous Polyposis 1
Astrocytoma, Epidermoid cyst, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblasto... OMIM:175100
Basal Cell Nevus Syndrome 2
Angiofibromas, Palmar pits, Plantar pits, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Me... OMIM:620343
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... OMIM:224120
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... OMIM:614480
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of finger, Localized skin lesion, Camptodactyly of toe... OMIM:300244
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... ORPHA:398063
Cronkhite-Canada Syndrome
Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia ORPHA:2930
Polyarteritis Nodosa
Erythema, Subcutaneous nodule, Skin ulcer, Weight loss ORPHA:767
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Sclerotic vertebral endplates, Th... OMIM:611490
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Familial Multiple Nevi Flammei
Hypermelanotic macule, Skin ulcer, Scoliosis, Nevus flammeus, Papule ORPHA:624
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Hemangioma, Failure to... OMIM:263400
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:42642
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Refractory ... ORPHA:1133
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased body weight, Dry skin, Anemia OMIM:614450
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Subcutaneous nodule, Hypopigmented skin pat... ORPHA:626
Myopathic Ehlers-Danlos Syndrome
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... ORPHA:536516
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Neoplasm of the lung, Melanoma, Neoplasm of the skin, Skin fissure ORPHA:659
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Skin ulcer ORPHA:464343
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... OMIM:620282
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Buerger Disease
Skin ulcer ORPHA:36258
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, He... ORPHA:2072
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly OMIM:269840
Familial Anetoderma
Lumbar hyperlordosis, Papule ORPHA:228277
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia OMIM:613101
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Dry skin, Ly... ORPHA:39041
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Slender build, Hyperlordosis ORPHA:352470
Liposarcoma
Weight loss, Subcutaneous nodule, Sarcoma ORPHA:69078
Tempi Syndrome
Facial erythema, Increased hematocrit, Hemangioma, Ascites, Polycythemia ORPHA:284227
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... ORPHA:99889
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Flexion contracture, Congenital foot contraction deformities, Hyperlordosis ORPHA:363454
Galactosemia Iii
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly OMIM:230350
Congenital Myopathy 16
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity OMIM:618524
Erythrokeratodermia Variabilis
Macule, Hypermelanotic macule, Erythema, Weight loss, Neoplasm of the skin, Dry skin ORPHA:317
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Subcutaneous nodule, Ependymoma, Gingiva... OMIM:613254
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Scoliosis, Hyperlordosis OMIM:611067
Nemaline Myopathy 5C, Autosomal Dominant
Achilles tendon contracture, Slender build, Scoliosis, Hyperlordosis OMIM:620389
Recessive Dystrophic Epidermolysis Bullosa Inversa
Localized skin lesion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous m... ORPHA:79409
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... OMIM:615290
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu... OMIM:614742
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... OMIM:260400
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis OMIM:616756
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Flexion contracture, Spinal rigidity, Hyperlordosis ORPHA:157973
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Ankle flexion contracture ORPHA:280333
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... OMIM:257200
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Hepatosplenomegal... OMIM:612526
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia ORPHA:79312
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Familial Adenomatous Polyposis
Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyr... ORPHA:733
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Anemia ORPHA:28
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Flexion contracture, Generaliz... OMIM:619183
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to... OMIM:615438
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss ORPHA:2198
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Incontinentia Pigmenti
Abnormal dental enamel morphology, Camptodactyly of finger, Eosinophilia, Erythema, Hypopigmented... ORPHA:464
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ... ORPHA:397596
Familial Pancreatic Carcinoma
Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, ... ORPHA:1333
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:619868
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Infantile Systemic Hyalinosis
Camptodactyly of finger, Short neck, Subcutaneous nodule, Skin ulcer, Failure to thrive, Aplasia/... ORPHA:2176
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Non-Hodgkin lymphoma, Lymphoproliferative disorder, Hypermelanotic macule, Lum... ORPHA:1830
Desmoid Tumor
Fibroma, Neoplasm of the skin, Subcutaneous nodule, Desmoid tumors ORPHA:873
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... OMIM:618363
Congenital Myopathy 2A, Typical, Autosomal Dominant
Spinal rigidity, Hyperlordosis, Scoliosis, Arthrogryposis multiplex congenita, Slender build OMIM:161800
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Scoliosis, Skin ulcer ORPHA:1657
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Petechiae, Splenomegaly, Anemia, Purpura OMIM:620296
Hajdu-Cheney Syndrome
Hepatomegaly, Inguinal hernia, Failure to thrive, Short neck, Hypoplastic 5th lumbar vertebrae, S... ORPHA:955
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Bleeding Disorder, Platelet-Type, 16
Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia OMIM:187800
Cushing Disease
Dorsocervical fat pad, Pituitary corticotropic cell adenoma, Leukocytosis, Increased body weight,... ORPHA:96253
Blau Syndrome
Clear cell renal cell carcinoma, Camptodactyly of finger, Splenomegaly, Erythema, Skin ulcer, Lym... ORPHA:90340
Mucolipidosis Type Iii
Inguinal hernia, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Tuberculosis
Weight loss ORPHA:3389
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Obesity, Keloids, Dry skin ORPHA:3085
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... ORPHA:71493
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Chronic active hepatitis, Lymphoproliferative disorder, Lymphoma,... ORPHA:289390
Monosomy 22
Aplasia of the thymus, Short neck, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly,... ORPHA:96123
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, N... ORPHA:520
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... ORPHA:98848
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short neck, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemoglobin ORPHA:98791
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... OMIM:620010
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Hernia, Abnormal v... ORPHA:93476
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Splenomegaly, Kyphosis, Flexion contracture, Umbilical hernia, Asc... ORPHA:87876
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Papa Syndrome
Skin ulcer, Lymphadenopathy ORPHA:69126
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Failure to thrive, Lumbar hyperlordosis, Ovoid vertebral bo... OMIM:230000
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Ankle flexion contracture, Hyperlordosis, Spinal rigidity, Flexion contracture, Elbow flexion con... ORPHA:267
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer ORPHA:36386
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red... OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... OMIM:308240
Sea-Blue Histiocytosis
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Subcutaneous nodule, Sea-blue... ORPHA:158029
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm, Weight loss, Neoplasm, Neoplasm of the breast, Neoplasm of the... ORPHA:2221
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:278000
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia ORPHA:1046
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Vertebral comp... OMIM:230800
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Dry skin, Lymphadenopathy, Neopl... ORPHA:3162
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thr... OMIM:619487
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... ORPHA:108
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Neoplasm, Dermal atrophy, Bone ma... ORPHA:3322
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative... OMIM:619463
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm OMIM:240500
Paraneoplastic Pemphigus
Skin erosion, B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Isolated Glycerol Kinase Deficiency
Scoliosis, Hyperlordosis ORPHA:408
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Lumbar hyperlordosis, Abnormal macrophage morphology, Achilles tendon contracture, Scoliosis, Rig... ORPHA:353
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Splenomegaly, Micronodular cir... OMIM:606003
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Ascites ORPHA:314478
Peutz-Jeghers Syndrome
Macule, Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neopl... ORPHA:2869
Simple Cryoglobulinemia
Viral hepatitis, B-cell lymphoma, Localized skin lesion, Monoclonal immunoglobulin M proteinemia,... ORPHA:91139
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Lipodystrophy, Thrombocytopenia, ... OMIM:617591
Poems Syndrome
Lymphoproliferative disorder, Lipodystrophy, Lymphadenopathy, Weight loss, Ascites, Thrombocytosi... ORPHA:2905
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... OMIM:617052
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Anauxetic Dysplasia 2
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Schimke Immunoosseous Dysplasia
Macule, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Hypermelanotic macule, Ovo... OMIM:242900
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Lymphangioma, Splenomegaly, Abnormal sacrum morphology, Pancr... ORPHA:464329
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... ORPHA:300298
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Elbow flexion contracture, Thoracic kyphosis, Left vent... ORPHA:206546
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Subcutaneous nodule, Lymphoma, Skin ulcer, Panniculitis, Scaling skin, Cellulitis, Leukemia, Dry ... ORPHA:2526
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos... OMIM:250250
Mulchandani-Bhoj-Conlin Syndrome
Hypermelanotic macule, Hyperlordosis, Cafe-au-lait spot, Scoliosis, Failure to thrive OMIM:617352
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Thr... ORPHA:398124
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Progressive Nodular Histiocytosis
Cachexia, Subcutaneous nodule, Papule ORPHA:158022
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia OMIM:618116
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
Reynolds Syndrome
Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites ORPHA:779
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Weight l... ORPHA:90362
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Periarticular subcutaneous nodules, Lipogranulom... OMIM:228000
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma ORPHA:44890
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Low back pain, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mas... ORPHA:2126
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... ORPHA:400
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo... OMIM:616050
Neurofibromatosis Type 1
Macule, Astrocytoma, Kyphosis, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus... ORPHA:636
Idiopathic Achalasia
Weight loss ORPHA:930
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Hypocalcification of den... ORPHA:169090
Nemaline Myopathy 2
Hyperlordosis, Spinal rigidity, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry... OMIM:256030
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... OMIM:264180
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture OMIM:610687
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... ORPHA:1572
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Achilles tendon contracture, Thoracic scoliosis, Hyperlordosis ORPHA:62
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Inguinal hernia, Abnormal dental enamel morphology... ORPHA:534
Myelofibrosis
Myeloproliferative disorder, Splenomegaly, Pallor, Purpura OMIM:254450
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Failure to thrive in i... OMIM:613385
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Weight loss, Scoliosis, Abnormal vertebral morphology, Anemia ORPHA:324964
Cowden Syndrome 1
Skin tags, Acrokeratosis, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hama... OMIM:158350
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, P... ORPHA:97282
Malt Lymphoma
B-cell lymphoma, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia ORPHA:52417
Kikuchi-Fujimoto Disease
Macule, Erythematous macule, Hepatomegaly, Generalized lymphadenopathy, Elevated hepatic transami... ORPHA:50918
Granulomatosis With Polyangiitis
Granulomatosis, Skin ulcer, Weight loss OMIM:608710
Atypical Werner Syndrome
Renal neoplasm, Hepatic steatosis, Aplasia/Hypoplasia of the skin, Lipoatrophy, Failure to thrive... ORPHA:79474
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Nephroblastoma
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Weight loss, Neoplasm, Nephroblastoma ORPHA:654
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Giant Cell Arteritis
Mediastinal lymphadenopathy, Hepatic failure, Skin ulcer, Weight loss ORPHA:397
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Hypereosinophilia, Dr... OMIM:617388
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... ORPHA:1979
Chronic Mucocutaneous Candidiasis
Abnormal dental enamel morphology, Erythema, Hepatitis, Skin ulcer, Papule ORPHA:1334
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Myelodysplasia, Short n... ORPHA:124
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Hyperlordosis, Spinal rigidity, Splen... OMIM:613327
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Weight loss, Ascites, Anemia ORPHA:2070
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipod... ORPHA:2348
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Erythema, Hypopigmented skin patches, Skin ulcer, Squamous cell carcinom... ORPHA:2907
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis, Scoliosis ORPHA:2886
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Hernia, Ascites ORPHA:26790
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Acrodermatitis Enteropathica
Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive ORPHA:37
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Gm1 Gangliosidosis
Inguinal hernia, Camptodactyly of finger, Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of... ORPHA:354
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... ORPHA:3041
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Flexion contracture, Corneal scarring, Squamous cell carcinoma, Atrophic scars, Enamel hypoplasia... OMIM:226600
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids... OMIM:619769
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... OMIM:602557
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Abnormal form of the vertebra... ORPHA:93941
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Failure to thrive OMIM:619046
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Abdominal obesity, Lumbar hyperlordosis, Lipodystrophy OMIM:615980
Calciphylaxis
Skin ulcer, Cellulitis ORPHA:280062
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Kyphosis... OMIM:615512
Alveolar Echinococcosis
Low back pain, Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Panc... ORPHA:284
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Pene... ORPHA:573278
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Ck Syndrome
Lumbar hyperlordosis, Slender build, Kyphoscoliosis ORPHA:251383
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... ORPHA:3261
Fanconi Anemia, Complementation Group C
Hypopigmented macule, Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, F... OMIM:227645
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Braddock-Carey Syndrome 1
Hyperlordosis, Enamel hypoplasia, Thrombocytopenia, Camptodactyly OMIM:619980
Adams-Oliver Syndrome 5
Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Umbil... OMIM:616028
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrog... ORPHA:85212
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... ORPHA:729
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... ORPHA:99642
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Hyperlordosis, Splenomegaly, Abnormal subcutaneous fat tissue distributio... ORPHA:1328
Parkes Weber Syndrome
Back pain, Hemangiomatosis, Skin ulcer, Abnormal lymphatic vessel morphology, Erythematous plaque... ORPHA:90307
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intrahepat... ORPHA:97280
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Exostoses OMIM:165800
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Abnormal abd... ORPHA:97283
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Tuberous Sclerosis 1
Chordoma, Dental enamel pits, Astrocytoma, Subcutaneous nodule, Ependymoma, Gingival fibromatosis... OMIM:191100
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Sitosterolemia 1
Reticulocytosis, Tuberous xanthoma, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma,... OMIM:210250
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... ORPHA:93352
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Cutis laxa, Scoliosis OMIM:619451
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Lymphoma, Weight loss, Iron deficiency anemia, ... OMIM:212750
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Diamond-Blackfan Anemia 1
Macrocytic anemia, Failure to thrive, Myelodysplasia, Congenital hypoplastic anemia, Short neck, ... OMIM:105650
Microscopic Polyangiitis
Peritonitis, Erythema, Subcutaneous nodule, Skin ulcer, Pancreatitis ORPHA:727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... ORPHA:97289
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Thin skin, Osteosarcoma OMIM:112250
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Petechiae, Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology, Wei... ORPHA:85450
Amoebiasis Due To Free-Living Amoebae
Subcutaneous nodule, Skin ulcer, Increased red blood cell count, Papule ORPHA:68
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:98855
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma... ORPHA:1332
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Kyphosis, Anemia, Leukopenia, Cirrhosis,... ORPHA:77259
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v... ORPHA:662
Huntington Disease-Like 2
Weight loss ORPHA:98934
Intellectual Disability And Myopathy Syndrome
Lumbar hyperlordosis, Achilles tendon contracture, Spotty hypopigmentation, Scoliosis, Cafe-au-la... OMIM:619719
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... ORPHA:59303
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Adenocarcinoma Of The Anal Canal
Anal canal adenocarcinoma, Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm... ORPHA:424016
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Portal hypertension, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Th... OMIM:620365
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hyperlordosis, Scoliosis, Shagreen patch ORPHA:2511
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spina... ORPHA:98863
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestas... OMIM:615895
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... OMIM:616005
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Malakoplakia
Follicular hyperplasia, Subcutaneous nodule, Skin ulcer, Prostate neoplasm, Papule ORPHA:556
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Flexion contracture, Spinal rigidity OMIM:609308
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Hepa... ORPHA:2330
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Hepatosplenomegaly, Enthesitis, Lymphadenopathy, Weight loss, Abnormality of... ORPHA:85408
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Lymphoprolif... OMIM:614700
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Chime Syndrome
Erythema, Skin ulcer, Acute leukemia ORPHA:3474
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hypopigmented skin patches, Hep... ORPHA:381
Multiple Endocrine Neoplasia Type 4
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... ORPHA:276152
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipoa... ORPHA:79083
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Jaundice,... ORPHA:540
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis OMIM:255200
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Skin ulcer OMIM:116920
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Grayish enamel,... OMIM:253000
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Failure to thrive, Fatal liver failure in infancy, Bone-marrow foa... ORPHA:275761
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... ORPHA:100075
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... OMIM:214900
Hatipoglu Immunodeficiency Syndrome
Inguinal hernia, Pancytopenia, Petechiae, Failure to thrive, Hyperpigmented/hypopigmented macules... OMIM:620331
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Capillary malformation, Scoliosis, Lipoma, Nephroblastoma OMIM:612918
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular hypertrophy, Flexion contracture, Scoliosis, Hyperlordosis OMIM:613156
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Failur... OMIM:259700
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... ORPHA:98853
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Erythema, Hepatitis, ... ORPHA:139402
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... ORPHA:142
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia,... ORPHA:781
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Malignant Peritoneal Mesothelioma
Ascites, Peritonitis, Neoplasm, Weight loss ORPHA:168811
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Leukopenia, Neutropenia, Chi... OMIM:216550
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Pneumocystosis
Weight loss, Neoplasm, Abnormal neutrophil count ORPHA:723
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Fa... OMIM:614520
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Congenital Myopathy 4A, Autosomal Dominant
Failure to thrive, Lumbar hyperlordosis, Limb joint contracture, Scoliosis OMIM:255310
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Carney Triad
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre... ORPHA:139411
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:256810
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Myopathy, Scapulohumeroperoneal
Hyperlordosis, Achilles tendon contracture, Scoliosis, Increased connective tissue OMIM:616852
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Cachexia, Anemia OMIM:175500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Flexion contracture OMIM:613723
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine... OMIM:611881
Granulomatosis With Polyangiitis
Skin ulcer, Weight loss, Granulomatosis, Pancreatitis, Papule, Purpura ORPHA:900
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Systemic Capillary Leak Syndrome
Leukocytosis, Pancreatitis, Multiple myeloma, Weight loss ORPHA:188
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Myelodysplasia, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Leukopenia... ORPHA:508542
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Ankle flexion contracture, Hyperlordosis OMIM:617760
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Skin erosion, Flexion contracture, Squamous cell carcinoma, Atypical scarring ... ORPHA:89842
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... OMIM:251290
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Abnormal ve... OMIM:616817
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia OMIM:184850
Myasthenic Syndrome, Congenital, 14
Hyperlordosis, Scoliosis, Knee flexion contracture OMIM:616228
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Erythema, Flexion contracture, Intermitte... ORPHA:99921
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... OMIM:304790
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Failure to thrive OMIM:619542
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Weight loss, Uterine le... ORPHA:143
Mirage Syndrome
Petechiae, Myelodysplasia, Thrombocytopenia, Leukopenia, Scoliosis, Decreased body weight, Hypopl... OMIM:617053
Tuberous Sclerosis Complex
Epidermoid cyst, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, ... ORPHA:805
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Neut... OMIM:600901
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Skin ulcer ORPHA:220393
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Ankle flexion contracture OMIM:613818
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Failure to thrive, Eosinophilia, Pituitary adenoma, Hepatit... ORPHA:199299
Myopathy, Distal, 1
Lumbar hyperlordosis, Scoliosis OMIM:160500
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical ... OMIM:252900
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Monoclonal immunoglobu... ORPHA:33226
Leprosy
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Penetrating foot... ORPHA:548
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean c... OMIM:127550
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypopl... OMIM:230500
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Peritoneal Cystic Mesothelioma
Peritonitis, Neoplasm, Weight loss ORPHA:168816
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Sea-blue hist... OMIM:230600
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Hypermelanotic macule, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas... OMIM:607944
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Hyperlordosis OMIM:615156
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Short n... ORPHA:647
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... ORPHA:79124
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Shoulder flexion contracture, Cervical ky... OMIM:255800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae OMIM:617101
Pyomyositis
Weight loss, Leukocytosis, Subcutaneous nodule, Testicular teratoma ORPHA:764
Fanconi Anemia, Complementation Group R
Scoliosis, Bone marrow hypocellularity, Anemia, Nevus OMIM:617244
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, ... ORPHA:90051
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... OMIM:184250
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... OMIM:618935
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... ORPHA:20
Fanconi Anemia, Complementation Group P
Pancytopenia, Cafe-au-lait spot, Anemia, Squamous cell carcinoma OMIM:613951
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Subcutaneous nodule, Lymphoma, H... ORPHA:109
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Juvenile Dermatomyositis
Erythema, Dry skin, Skin ulcer, Weight loss ORPHA:93672
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Neut... OMIM:227650
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stomatocytosis,... OMIM:153670
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o... ORPHA:169105
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Elevated hepatic transamina... OMIM:300972
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenome... OMIM:603553
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Hernia, Beaking of ver... OMIM:252930
Myopathy, Centronuclear, 1
Flexion contracture, Hyperlordosis OMIM:160150
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Systemic Sclerosis
Barrett esophagus, Cutaneous sclerotic plaque, Digital pitting scar, Flexion contracture, Spotty ... ORPHA:90291
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Hernia, Failure to thrive ORPHA:583
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Leukocytosis, Weight loss, Anemia ORPHA:67
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatic failure, Hepatospl... OMIM:608013
Chronic Hiccup
Weight loss ORPHA:396
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Mcdonough Syndrome
Kyphosis, Cachexia, Scoliosis ORPHA:2471
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Brucellosis
Hepatomegaly, Failure to thrive, Liver abscess, Small for gestational age, Hypersplenism, Thrombo... ORPHA:1304
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Decreased prop... ORPHA:508533
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... OMIM:235555
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Enamel hypopla... ORPHA:763
Wieacker-Wolff Syndrome
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... OMIM:314580
Multiple Myeloma
Splenomegaly, Weight loss, Lymphadenopathy, Vertebral compression fracture, Anemia ORPHA:29073
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch... ORPHA:88
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches, Neoplasm o... ORPHA:53715
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Hyperlordosis OMIM:162370
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... OMIM:267700
Cartilage-Hair Hypoplasia
Hepatomegaly, Sacral dimple, Abnormally ossified vertebrae, Biconvex vertebral bodies, Short neck... ORPHA:175
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Hyperlordosis OMIM:618129
Rat-Bite Fever
Back pain, Abdominal aseptic abscess, Lymphadenitis, Weight loss, Scaling skin, Pancreatitis, Anemia ORPHA:31205
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Scarring, Erythema, Atrophic scars, Squamous cell carc... ORPHA:79396
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... ORPHA:829
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis ORPHA:1387
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... ORPHA:280365
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Pallor, Paraganglioma, Weight loss ORPHA:94080
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Weight loss ORPHA:79242
Stevens-Johnson Syndrome
Macule, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Erythem... ORPHA:36426
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... OMIM:607765
Copper Deficiency, Familial Benign
Failure to thrive, Anemia OMIM:121270
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... OMIM:613812
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Severe failure to thrive, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Glio... ORPHA:99818
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Cellulitis, Retinobl... ORPHA:790
Three M Syndrome 3
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... OMIM:614205
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, C... ORPHA:465508
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Lumb... ORPHA:505248
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Splenomegaly, Contracture of the distal i... OMIM:607015
Isaacs Syndrome
Weight loss ORPHA:84142
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... ORPHA:264580
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia ... OMIM:253010
Proteus-Like Syndrome
Thymus hyperplasia, Exostoses, Epidermal nevus, Splenomegaly, Hemangioma, Subcutaneous lipoma, Sh... ORPHA:2969
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia ORPHA:3452
Adult Syndrome
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Cowden Syndrome 6
Skin tags, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Menin... OMIM:615109
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Lumbar hyperlordosis OMIM:167320
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Scoliosis OMIM:618443
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Syndromic Diarrhea
Lymphopenia, Inguinal hernia, Hepatomegaly, Small for gestational age, Increased mean platelet vo... ORPHA:84064
Dyskeratosis Congenita, Digenic
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Failure to thrive, Anemia OMIM:620040
Alexander Disease Type I
Cachexia, Failure to thrive, Scoliosis ORPHA:363717
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Erythroid hypopl... OMIM:612541
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... ORPHA:99880
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Scoliosis OMIM:616801
Typical Nemaline Myopathy
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Arthrogrypo... ORPHA:171436
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma ... ORPHA:653
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Weight loss ORPHA:2902
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis OMIM:617450
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt... OMIM:301040
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Left ventricular hypertrophy, Lumbar hyperlordosis, Scoliosis, Spinal rigidity ORPHA:86812
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pallor, Papule, Neutrophilia, Myelodysplasia, Leukocyto... ORPHA:3260
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Penetrating foot ulcers, Scoliosis ORPHA:99956
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic... ORPHA:100078
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... OMIM:251880
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Plague
Hepatomegaly, Splenomegaly, Localized skin lesion, Lymphadenitis, Skin ulcer, Enlarged mesenteric... ORPHA:707
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Hepatic steatosis, Hyperlordosis ORPHA:52430
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Weight loss, Pallor, Thrombocytosis ORPHA:134
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Failure to thrive, Cachexia, Absence of subcutaneous fat, Corneal ... OMIM:610965
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Igg4-Related Aortitis
Low back pain, Hypereosinophilia, Weight loss ORPHA:449400
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Juvenile Polyposis Of Infancy
Refractory anemia, Subcutaneous lipoma, Cachexia, Hamartomatous polyposis, Hemangioblastoma, Hema... ORPHA:79076
Mucopolysaccharidosis Type 7
Inguinal hernia, Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatiti... ORPHA:584
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, Short neck, Kyphoscoliosi... OMIM:114300
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Scarring ... ORPHA:79277
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular hypertrophy, Flexion contracture, Scoliosis, Hyperlordosis OMIM:253700
Oculoskeletodental Syndrome
Enamel hypoplasia, Thoracic kyphosis, Scoliosis, Hyperlordosis ORPHA:557003
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Mcleod Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... OMIM:300842
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Pituita... ORPHA:97261
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Exostoses ORPHA:1798
Huntington Disease-Like 2
Weight loss OMIM:606438
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Distal arthrogryposis, Decre... ORPHA:42
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Myopathy, Myofibrillar, 7
Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity,... OMIM:617114
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Skin tags, Lumbar hyperlordosis, Redundant skin, Kyphosis, Uterine leiomyoma, Platyspondyly, Palm... OMIM:616482
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Attrv30M Amyloidosis
Weight loss, Cardiomegaly ORPHA:85447
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Three M Syndrome 1
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida oc... OMIM:273750
Congenital Myasthenic Syndromes With Glycosylation Defect
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Knee flexion contracture ORPHA:353327
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Kyphosis, Spinal ca... ORPHA:582
Al Amyloidosis
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Anemia ORPHA:85443
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis ORPHA:970
Bethlem Myopathy
Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A... ORPHA:610
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk... OMIM:263700
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Skin ulcer, Atypical scarring of skin, Neutropenia, Anemia ORPHA:95455
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car... ORPHA:157794
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Leukocytosis, Peritonitis, Pyoderma gangrenosum, Recurrent tonsillitis, B... ORPHA:2968
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Obesity OMIM:619185
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia ORPHA:3218
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Flexion contracture, Hyperlordosis OMIM:611588
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Perianal erythema, Splenomegaly, Perioral erythema, Dry skin OMIM:201100
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Melanocytic nevus, Weight loss, Basal cell carcinoma, Squamous... ORPHA:79430
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Abnormal abd... ORPHA:97278
Pachydermoperiostosis
Hepatomegaly, Splenomegaly, Neoplasm of the lung, Neoplasm of the skin, Scoliosis, Anemia ORPHA:2796
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Juvenile Huntington Disease
Weight loss ORPHA:248111
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... ORPHA:100080
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Lumbar hyperlordosis ORPHA:435387
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Weight loss, Knee flexion contracture ORPHA:3208
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Increased body... ORPHA:79240
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Dry skin, Thymoma, Weight loss, Fail... ORPHA:85138
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep... OMIM:619381
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Lymphoma, Biliary cirr... ORPHA:2298
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hyperlordosis ORPHA:369840
Congenital Myopathy 10B, Mild Variant
Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis OMIM:620249
Beckwith-Wiedemann Syndrome
Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Leiomyo... ORPHA:116
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Failure to thrive, Anemia, Hepatomegaly OMIM:239200
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Zollinger-Ellison Syndrome
Pituitary null cell adenoma, Pituitary corticotropic cell adenoma, Adrenocortical carcinoma, Pitu... ORPHA:913
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti... OMIM:615846
Polymyositis
Breast carcinoma, Weight loss, Chondrocalcinosis, Hepatomegaly ORPHA:732
Moynahan Syndrome
Cachexia ORPHA:2574
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule, Purpura ORPHA:183
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Neuropathy, Hereditary Sensory And Autonomic, Type V
Low back pain, Acral ulceration OMIM:608654
Lead Poisoning
Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology ORPHA:330015
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Autosomal Recessive Centronuclear Myopathy
Left ventricular hypertrophy, Hip contracture, Hyperlordosis ORPHA:169186
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Intellectual Developmental Disorder, Autosomal Dominant 52
Lumbar hyperlordosis, Small for gestational age, Overweight, Lumbar scoliosis, Cervical C2/C3 ver... OMIM:617796
Trichodermodysplasia-Dental Alterations Syndrome
Hyperlordosis, Adenoma sebaceum, Scoliosis, Neoplasm of the skin, Multiple cafe-au-lait spots ORPHA:3353
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Ante... OMIM:253200
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Scoliosis, Hyperlordosis OMIM:300986
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Three M Syndrome 2
Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck OMIM:612921
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Preauricular pit, Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vert... OMIM:226980
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Christianson Syndrome
Arthrogryposis multiplex congenita, Cachexia ORPHA:85278
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Fa... OMIM:222700
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Knee flexion contracture, Scoli... ORPHA:371364
Juvenile Polyposis Syndrome
Duodenal adenocarcinoma, Failure to thrive, Anemia OMIM:174900
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:276621
Proteus Syndrome
Neoplasm of the thymus, Subcutaneous nodule, Abnormal form of the vertebral bodies, Neoplasm of t... ORPHA:744
Bullous Pemphigoid
Macule, Erythema, Weight loss ORPHA:703
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... ORPHA:37042
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Medullary thy... OMIM:162300
Immunoglobulin A Vasculitis
Macule, Erythema, Skin ulcer, Purpura ORPHA:761
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis OMIM:613157
Frontorhiny
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Dermoid cyst, Scoliosis, Prea... ORPHA:391474
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Abnormally ossified vertebrae, Shoulder flexion contracture, Ca... ORPHA:800
Lateral Meningocele Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scol... ORPHA:2789
Amyotrophic Lateral Sclerosis 27, Juvenile
Scoliosis, Hyperlordosis OMIM:620285
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis OMIM:618870
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
3M Syndrome
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi... ORPHA:2616
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... ORPHA:100082
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis OMIM:617821
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hyperlordosis, Obesity, Hepatosplenomegaly, Cholecystitis, Umbilical hernia, Cholel... OMIM:301066
Muscular Dystrophy, Duchenne Type
Hyperlordosis, Achilles tendon contracture, Flexion contracture, Hamstring contractures, Knee fle... OMIM:310200
Glossopharyngeal Neuralgia
Schwannoma, Neoplasm, Abnormality of the cervical spine, Weight loss ORPHA:221098
Short Syndrome
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessive wrinkle... ORPHA:3163
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis OMIM:128100
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... ORPHA:31150
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:1323
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis OMIM:608885
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Failure to thrive, Anemia OMIM:616457
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta OMIM:245660
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... ORPHA:29072
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Fused cervical vertebrae OMIM:612852
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m... ORPHA:174
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Hypopigmented skin patches, Weight lo... ORPHA:84
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Splenomegaly, Kyphosis, Hepatosplenomegaly, Knee flexion contra... ORPHA:576
Renal-Hepatic-Pancreatic Dysplasia 1
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hep... OMIM:208540
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia ORPHA:847
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD... ORPHA:221139
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Adrenocortical Carcinoma
Adrenocortical carcinoma, Increased body weight, Weight loss, Lung adenocarcinoma, Striae distensae ORPHA:1501
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hyperlordosis, Decreased liver f... ORPHA:26791
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Scapuloperoneal Spinal Muscular Atrophy
Kyphosis, Scoliosis, Hyperlordosis OMIM:181405
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... OMIM:260920
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Macule, Kyphoscoliosis, Hyperlordosis, Schwannoma, Ossifying fibroma, Scoliosis, Lisch nodules, N... ORPHA:363700
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Pulmonary carcinoid tumor, Hepa... ORPHA:97287
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure... ORPHA:79128
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Smith-Mccort Dysplasia 2
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight OMIM:615222
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Mucopolysaccharidosis, Type X
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Left ventricul... OMIM:619698
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Weight loss ORPHA:171876
Blau Syndrome
Camptodactyly of finger, Flexion contracture of toe, Intermittent generalized erythematous papula... OMIM:186580
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... OMIM:269700
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Lymphadenopathy ORPHA:411703
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Dr... ORPHA:220295
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Dry skin, Weight loss ORPHA:95409
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Weight loss OMIM:275000
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Splenomega... OMIM:276700
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Huntington Disease-Like 1
Weight loss ORPHA:157941
Kindler Epidermolysis Bullosa
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Camptodactyly of finger, Eryth... ORPHA:2908
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... OMIM:301074
Erdheim-Chester Disease
Retroperitoneal fibrosis, Xanthelasma, Anemia, Weight loss ORPHA:35687
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Hiatus hernia, Pancreatic cysts, Sple... OMIM:610199
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration, Corneal scarring OMIM:256800
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Macule, Fasciitis, Hypermelanotic macule, Splenomegaly, Leukocytosis, Erythema, Abnormal sacroili... ORPHA:32960
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve... OMIM:271510
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture of finger, Failure to thrive, Li... OMIM:256040
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Scarring, Eosinophilia, Portal hypertension, Thrombocytopenia, Sk... ORPHA:797
Carney Complex
Atypical nevi in non-sun exposed areas, Hepatocellular carcinoma, Increased body weight, Thyroid ... ORPHA:1359
Pelizaeus-Merzbacher Disease
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis ORPHA:702
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Arthrogryposis, Distal, Type 5D
Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodactyly OMIM:615065
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Recurrent pancreatitis, Failure to thrive, Pancre... OMIM:615947
Ring Chromosome 12 Syndrome
Uterine leiomyoma, Lumbar hyperlordosis, Small for gestational age, Hemangioma ORPHA:1439
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, P... OMIM:301068
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal stenosis, Co... OMIM:616007
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Preauricular skin tag ORPHA:568
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Platyspondyly, Cerv... OMIM:607095
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Skin nodule, Lymphadenitis, Peritonitis, Hepati... ORPHA:2552
Facioscapulohumeral Dystrophy
Hyperlordosis ORPHA:269
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Myotonia Permanens
Hyperlordosis ORPHA:99735
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... OMIM:619525
Neurofibromatosis, Type I
Hypopigmented macule, Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Parathyroid adenoma, Optic ner... OMIM:162200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Fetal ascites, Flexion contracture, Facial erythema, Knee flexion contracture, Scaling skin, Hepa... OMIM:619503
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Renpenning Syndrome
Cachexia ORPHA:3242
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia OMIM:618186
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis ORPHA:85293
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Sacral dimple, Failure to thrive, Hyperlordosis, Short neck,... OMIM:619950
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Low back pain, Weight loss ORPHA:49041
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Trichorhinophalangeal Syndrome Type 1
Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:77258
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Lumbar hyperlordosis, Small for gestational age, Short neck OMIM:609625
19Q13.11 Microdeletion Syndrome
Cachexia, Dry skin, Thin skin, Aplasia cutis congenita, Failure to thrive ORPHA:217346
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hyperlordosis, Hypoplasia of the ... OMIM:272460
Lhermitte-Duclos Disease
Acrokeratosis, Fibroadenoma of the breast, Ovarian neoplasm, Trichilemmoma, Neoplasm of the thyro... ORPHA:65285
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Ring Chromosome 10 Syndrome
Cachexia, Short neck ORPHA:1438
Perry Syndrome
Weight loss ORPHA:178509
Silver-Russell Syndrome
Failure to thrive in infancy, Shoulder dimple, Cachexia, Obesity, Scoliosis, Cafe-au-lait spot ORPHA:813
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... OMIM:215150
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... OMIM:232220
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Preauricular pit, Joint contracture, Lumbar hyperlordosis OMIM:602471
Tetrasomy 12P
Cachexia, Short neck ORPHA:884
Alexander Disease
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Hyperpigmented nevi, Failure to thrive ORPHA:58
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Apolipoprotein C-Ii Deficiency
Splenomegaly, Eruptive xanthomas, Pancreatitis, Hepatomegaly OMIM:207750
Koolen-De Vries Syndrome Due To A Point Mutation
Sacral dimple, Numerous nevi, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyph... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Sacral dimple, Numerous nevi, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyph... ORPHA:363958
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of toe, Ascites, Lumbar hyperlordosis, Camptodactyly of finger ORPHA:2848
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Secondary Short Bowel Syndrome
Failure to thrive, Cholestasis, Weight loss ORPHA:95427
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Hyperlordosis, Kyphoscoliosis, Fle... ORPHA:2020
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Redundant... OMIM:602875
Focal Myositis
Weight loss ORPHA:48918
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis ORPHA:3068
Hepatoerythropoietic Porphyria
Hemolytic anemia, Scarring, Scarring alopecia of scalp, Splenomegaly, Erythroid hyperplasia, Skin... ORPHA:95159
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Umbilical hernia OMIM:619234
8P23.1 Microdeletion Syndrome
Weight loss, Obesity, Congenital diaphragmatic hernia, Short neck ORPHA:251071
3Mc Syndrome
Hyperlordosis, Prominent coccyx, Scoliosis, Umbilical hernia, Spina bifida occulta, Caudal appendage ORPHA:293843
Opitz-Kaveggia Syndrome
Skin tags, Sacral dimple, Multiple joint contractures, Inguinal hernia, Lumbar hyperlordosis, Fac... OMIM:305450
Hallermann-Streiff Syndrome
Small for gestational age, Hyperlordosis, Dermal atrophy, Scoliosis, Dry skin OMIM:234100
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Scoliosis, Hyperlordosis ORPHA:2780
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis ORPHA:370959
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hyperlordosis, Increased connective tissue, Flexion contracture, Scoliosis, Decreased body weight ORPHA:258
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Scoliosis OMIM:601152
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... OMIM:608594
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Eruptive xanthomas, Hepatosplenomegaly, Pancreatitis OMIM:238600
Distal 22Q11.2 Microdeletion Syndrome
Inguinal hernia, Neoplasm, Camptodactyly of finger, Hyperlordosis ORPHA:261330
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Lower-limb joint contracture, Upper-limb joint contracture, Scoliosis ORPHA:300605
Intellectual Developmental Disorder, Autosomal Dominant 29
Nevus flammeus, Lumbar hyperlordosis, Obesity, Hyperlordosis OMIM:616078
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Distal Deletion 10Q
Lumbar hyperlordosis, Failure to thrive, Spina bifida occulta ORPHA:96148
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Rett Syndrome
Kyphosis, Cachexia, Scoliosis OMIM:312750
Malignant Atrophic Papulosis
Peritonitis, Dermal atrophy, Papule, Weight loss ORPHA:679
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Cardiomegaly, Hyperlordosis, Flexion contracture, Elevated circulating alanine amin... ORPHA:365
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Scoliosis, Hepatic steatosis OMIM:615356
Osteosarcoma
Weight loss ORPHA:668
Pure Mitochondrial Myopathy
Lumbar hyperlordosis, Scoliosis ORPHA:254854
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... OMIM:619636
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... OMIM:181000
Branchiooculofacial Syndrome
Preauricular pit, Short neck, Hyperlordosis, Kyphosis, Lower lip pit, Elbow flexion contracture, ... OMIM:113620
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis ORPHA:171881
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Hyperlordosis OMIM:190350
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental enamel morphology, Hyperlordosis ORPHA:3253
Martsolf Syndrome 1
Lumbar hyperlordosis, Inguinal hernia, Thoracic scoliosis OMIM:212720
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:2614
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Prominent protruding coccyx, Camptodactyly of finger, Abnormal form of the ... ORPHA:2839
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Desbuquois Dysplasia 2
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Cap Polyposis
Weight loss ORPHA:160148
Igg4-Related Kidney Disease
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Lymphocytom... ORPHA:449395
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Behçet Disease
Splenomegaly, Subcutaneous nodule, Lymphadenopathy, Weight loss, Pancreatitis, Papule ORPHA:117
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... ORPHA:77293
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Kyphosis, Melanocytic nevus, Scoliosis, Multiple cafe-au-lait spots ORPHA:1969
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Familial Glucocorticoid Deficiency
Weight loss, Failure to thrive, Testicular adrenal rest tumor, Leydig cell neoplasia ORPHA:361
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Elbow flexion contracture, Lack of skin elasticity, Spinal canal stenosis, ... OMIM:608328
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Cachexia, Splen... ORPHA:191
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Yao Syndrome
Weight loss OMIM:617321
X-Linked Creatine Transporter Deficiency
Redundant skin, Cachexia ORPHA:52503
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Spinal rigidity, Cardiomegaly, Right ventricular hypertrophy, Hyperlordosis ORPHA:268
Helsmoortel-Van Der Aa Syndrome
Hyperlordosis, Obesity, Truncal obesity, Thin skin, Scoliosis, Failure to thrive, Enlarged kidney OMIM:615873
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Failure to thrive, Dry skin, Hepatomegaly OMIM:612132
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Infantile Krabbe Disease
Failure to thrive, Hypopigmented skin patches, Cachexia ORPHA:206436
Perry Syndrome
Weight loss OMIM:168605
Riddle Syndrome
Generalized lymphadenopathy, Erythema, Scaling skin, Weight loss ORPHA:420741
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Short neck ORPHA:251028
Fryns-Smeets-Thiry Syndrome
Cachexia, Scoliosis ORPHA:2058
Choreoacanthocytosis
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... ORPHA:2388
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Scoliosis, Lumbar hyperlordosis, Progressive flexion contractures, Dermoid cyst ORPHA:522077
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Oromandibular Dystonia
Weight loss ORPHA:93958
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis OMIM:617011
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Weight loss, Normochromic anemia, Reduced hematocrit, Chorioretinal scar ORPHA:91500
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Weight loss, Thrombocytopenia, Lymphadenopathy ORPHA:79078
Rheumatoid Arthritis
Weight loss OMIM:180300
Fatal Familial Insomnia
Weight loss OMIM:600072
Goodpasture Syndrome
Pallor, Anemia, Weight loss OMIM:233450
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff... OMIM:219800
Nocardiosis
Liver abscess, Lymphadenitis, Peritonitis, Subcutaneous nodule, Weight loss, Cellulitis ORPHA:31204
Sponastrime Dysplasia
Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Hyperconvex vertebral body endpl... ORPHA:93357
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Obesity, Scoliosis OMIM:250420
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Scoliosis OMIM:161200
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita,... ORPHA:99885
Williams Syndrome
Sacral dimple, Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, ... ORPHA:904
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Seckel Syndrome
Cachexia, Abnormal dental enamel morphology, Scoliosis ORPHA:808
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
African Trypanosomiasis
Erythematous macule, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, W... ORPHA:3385
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Multiple cafe-au-lait spots, Annular pancreas, Lumbar hyperlordosis, Scoliosis OMIM:616975
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:277600
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Slender build ORPHA:457359
Trisomy 18
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia ORPHA:3380
Marfan Syndrome
Inguinal hernia, Cachexia, Kyphosis, Scoliosis, Slender build, Striae distensae, Spondylolisthesis ORPHA:558
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Numerous nevi, Lumbar hyperlordosis, Melanocytic nevus, Decreased body w... OMIM:618371
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... ORPHA:63259
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Postinfectious Vasculitis
Palpable purpura, Subcutaneous nodule, Viral hepatitis, Weight loss ORPHA:48435
Hutchinson-Gilford Progeria Syndrome
Hypermelanotic macule, Absence of subcutaneous fat, Lack of skin elasticity, Weight loss, Dermal ... ORPHA:740
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Lumbar hyperlordosis, Kyphosis ORPHA:2232
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Stickler Syndrome
Abnormal dental enamel morphology, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of th... ORPHA:828
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Ascites ORPHA:75565
Reactive Arthritis
Weight loss, Enthesitis ORPHA:29207
Tsh-Secreting Pituitary Adenoma
Pallor, Weight loss ORPHA:91347
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Weight loss ORPHA:60025
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Hemiverte... ORPHA:500150
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Failure to thrive, Testicular adrenal rest tumor, Weight loss ORPHA:90794
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Localized hypoplasia of dental enamel, Hyperlordosis ORPHA:73223
Norrie Disease
Cachexia, Scoliosis, Neoplasm of the eye, Failure to thrive, Vascular neoplasm ORPHA:649
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Joint contracture of the hand OMIM:309800

Histopathology

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

There is no histopathology data for Rbm38

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rbm38.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The RNA-binding protein Rbm38 is dispensable during pressure overload-induced cardiac remodeling in mice. PloS one (August 2017) Rbm38tm1a(KOMP)Mbp PMC5574583

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Rbm38tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rbm38tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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