Gene Summary

STAG1 cohesin complex component
Scc3,  SA-1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal placenta morphology Stag1em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Stag1em1(IMPC)Mbp HET E15.5 0.00
increased circulating triglyceride level Stag1em1(IMPC)Mbp HET Early adult 2.64×10-05
small kidney Stag1em1(IMPC)Mbp HET Late adult 0.00
edema Stag1em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Stag1em1(IMPC)Mbp HET Late adult 0.00
abnormal placenta morphology Stag1em1(IMPC)Mbp HET E15.5 0.00
enlarged lymph nodes Stag1em1(IMPC)Mbp HET Late adult 0.00
embryonic growth retardation Stag1em1(IMPC)Mbp HOM E15.5 0.00
enlarged seminal vesicle Stag1em1(IMPC)Mbp HET Late adult 0.00
abnormal placenta vasculature Stag1em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Stag1em1(IMPC)Mbp HOM E15.5 0.00
abnormal lymph node morphology Stag1em1(IMPC)Mbp HET Late adult 0.00
blind uterus Stag1em1(IMPC)Mbp HET Early adult 0.00
small spleen Stag1em1(IMPC)Mbp HET Early adult 0.00
urinary bladder obstruction Stag1em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Stag1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal placenta vasculature Stag1em1(IMPC)Mbp HET E15.5 0.00
abnormal spleen morphology Stag1em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Stag1em1(IMPC)Mbp HET Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

9 Images


XRay Images Whole Body Dorso Ventral

40 Images

Gross Morphology Embryo E14.5-E15.5


18 Images


XRay Images Whole Body Lateral Orientation

13 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images


XRay Images Whole Body Lateral Orientation

3 Images

Human diseases caused by Stag1 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.

The table below shows human diseases associated to Stag1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 47
Intrauterine growth retardation, Increased nuchal translucency OMIM:617635
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Scoliosis ORPHA:502434

The table below shows human diseases predicted to be associated to Stag1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Glycogen Storage Disease Vi
Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertriglyceridemia, H... OMIM:232700
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:614480
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Azoospermia, He... OMIM:615703
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... OMIM:607616
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Skin ulcer, Fine hair, Micrognathia, Joint hypermobility, Aplasia/Hypoplasia of the skin, Lipoatr... ORPHA:2500
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... OMIM:603552
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Ewing Sarcoma
Ewing sarcoma OMIM:612219
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Atypical scarring of skin, Sparse eyebrow, Skeletal muscle atrophy, Atrophic scars, A... ORPHA:75496
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Arthrochalasia Ehlers-Danlos Syndrome
Retrognathia, Abnormality of subcutaneous fat tissue, Joint stiffness, Micrognathia, Inguinal her... ORPHA:1899
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Webbed neck, Joint contracture of the hand, Osteopenia, Cigarette-paper scars, Bifid uvula, Denta... OMIM:612350
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Intrauterine growth retardation, Micrognathia, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Th... ORPHA:261304
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Microphthalmia OMIM:616570
Kerion Celsi
Lymphadenopathy ORPHA:499
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice ORPHA:75234
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri... OMIM:612526
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the lar... ORPHA:2457
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Skeletal muscle hypertrophy, Splenomegaly, Myopathy, Xanthomatosis, Generalized hirsu... ORPHA:2348
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration OMIM:245900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Multiple prenatal fr... OMIM:259410
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100024
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
X-Linked Ehlers-Danlos Syndrome
Umbilical hernia, Inguinal hernia, Joint hypermobility, Hernia, Thin skin ORPHA:75497
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Skin ulcer, Abnormal hair morphology, Joint stiffness, Gingival overgrow... ORPHA:2028
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Fetal Encasement Syndrome
Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic he... OMIM:613630
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Sparse body hair, Abnormal dental morphology, Premature loss of pri... ORPHA:1810
Tooth agenesis, Sparse body hair, Melanocytic nevus, Microdontia, Trichodysplasia, Mandibular pro... ORPHA:1660
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Micrognathia, Reduced subcut... ORPHA:280365
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Hypodontia, Trichodysplasia, Thin skin OMIM:125640
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Retrognathia, Abnormality of subcutaneous fat tissue, Osteomalacia, Joint st... ORPHA:1901
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Peri... ORPHA:83451
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thenar muscle atrophy, Osteopenia, Flexion contracture, Thin skin ORPHA:157965
Lowry-Maclean Syndrome
Delayed eruption of teeth, Preauricular pit, Intrauterine growth retardation, Craniosynostosis, C... OMIM:600252
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Camptodactyly of finger, Thin skin ORPHA:1658
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma, Verrucae OMIM:618267
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Joint stiffness, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin ORPHA:2985
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Progressive alopecia, Narrow m... OMIM:129400
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Maffucci Syndrome
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... ORPHA:163634
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Widely spaced teeth, Premature loss of primary teeth, Microdontia, Medial... OMIM:617364
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Familial Cervical Artery Dissection
Abnormality of connective tissue, Striae distensae, Facial palsy, Thin skin ORPHA:36382
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Loss of facial adipose tissue, Splenomegaly, Myopathy, Xanthomatosis... ORPHA:79083
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Open bite, Dermal atrophy, Congenital diaphragmatic hernia, Hernia,... ORPHA:2092
Microphthalmia ORPHA:35612
Prolidase Deficiency
Carious teeth, Skin ulcer, Hypoplasia of the zygomatic bone, Micrognathia, White forelock, Spleno... ORPHA:742
Short Syndrome
Dental malocclusion, Downturned corners of mouth, Delayed eruption of teeth, Intrauterine growth ... OMIM:269880
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule ORPHA:1962
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Alopecia, Abnormal hair morphology, Dermal atrophy, Generalized lip... ORPHA:90154
Nanophthalmos 4
Microphthalmia OMIM:615972
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Joint hypermobility, Striae distensae, Atypical scarring of skin, Thin skin OMIM:225310
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Fractu... OMIM:112250
Glass Syndrome
Conical tooth, Dental crowding, Long philtrum, Long eyelashes, Micrognathia, Narrow mouth, Inguin... OMIM:612313
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Pyle Disease
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... OMIM:265900
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Ollier Disease
Platyspondyly, Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, C... ORPHA:296
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Abnormality of the dentition, Small, conical teeth, Aplasia cutis congenita, Oligodontia ORPHA:79499
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly ORPHA:417
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro... OMIM:615947
Silver-Russell Syndrome 2
Intrauterine growth retardation, Micrognathia, Downturned corners of mouth, Thin skin OMIM:618905
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Medial flaring of the eyebrow, Intra... OMIM:617602
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Marshall-Smith Syndrome
Retrognathia, Gingival overgrowth, Open mouth, Increased susceptibility to fractures, Protruding ... ORPHA:561
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Recon Progeroid Syndrome
Dental crowding, Skeletal muscle atrophy, Joint hypermobility, Prominence of the premaxilla, Smoo... OMIM:620370
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:619313
Cutis Laxa, Autosomal Recessive, Type Iiia
Distal amyotrophy, Umbilical hernia, Intrauterine growth retardation, Narrow mouth, Inguinal hern... OMIM:219150
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Keloids, Delayed eruption of teeth, Retrognathia, Dermal atrophy, Micr... OMIM:601812
Adams-Oliver Syndrome 4
Umbilical hernia, Microphthalmia OMIM:615297
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint hypermobility, Atrophic scars, Inguinal hernia, Thin skin OMIM:225320
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Ehlers-Danlos Syndrome, Periodontal Type, 1
Gingival bleeding, Periodontitis, Premature loss of teeth, Umbilical hernia, Gingival recession, ... OMIM:130080
19Q13.11 Microdeletion Syndrome
Retrognathia, Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Intrauterine growth retard... ORPHA:217346
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:97290
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade... OMIM:619375
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atro... ORPHA:251393
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:319487
Geroderma Osteodysplastica
Malar flattening, Joint hypermobility, Hernia, Abnormal bone ossification, Osteoporosis, Mandibul... ORPHA:2078
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Nephrolithiasis, Generalized hirsutism, H... ORPHA:1816
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Palmoplantar Carcinoma, Multiple Self-Healing
Short neck, Squamous cell carcinoma, Carcinoma OMIM:615225
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Oral mucosal blisters, Scarring alopecia... ORPHA:79402
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, S... ORPHA:2325
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Carious teeth, Atrophic scars, Milia, Nail dystrophy, Oral mucosal blisters, Aplasi... ORPHA:79411
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Hypopigmented skin patches, Open bite, Ankyloglossia, Narrow mouth, Trismus, P... ORPHA:2907
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormality of the dentition, Alopecia, Limitation of joint mobility, Breast aplasia, Dermal atro... ORPHA:90153
Cutis Laxa, Autosomal Recessive, Type Iiib
Osteopenia, Fine hair, Elbow flexion contracture, Intrauterine growth retardation, Inguinal herni... OMIM:614438
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice OMIM:620010
Oncogenic Osteomalacia
Abnormal vertebral morphology, Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal ... ORPHA:352540
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Periventricular Nodular Heterotopia
Joint hypermobility, Hernia, Thin skin ORPHA:98892
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Flynn-Aird Syndrome
Alopecia, Carious teeth, Dermal atrophy, Joint stiffness, Increased bone density with cystic chan... OMIM:136300
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome OMIM:105200
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Microcephaly-Microcornea Syndrome, Seemanova Type
Short stature, Growth delay, Microphthalmia ORPHA:2528
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:613027
Focal Facial Dermal Dysplasia Type I
Downturned corners of mouth, Sparse lateral eyebrow, Thick upper lip vermilion, Atrophic scars, L... ORPHA:79133
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
De Barsy Syndrome
Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Umbilical hernia, Intrauterine grow... ORPHA:2962
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Inguinal hernia, Increase... OMIM:618761
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abnormal dental enamel morp... ORPHA:1812
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Sparse body hair, Abnormal dental enamel morpho... ORPHA:1133
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Hirs... ORPHA:2026
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis OMIM:168400
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Carious teeth, Osteomalacia, Pathologic fracture, Premature loss of p... OMIM:146300
Cardiac-Valvular Ehlers-Danlos Syndrome
Dental crowding, Atrophic scars, Thick eyebrow, Inguinal hernia, Joint hypermobility, Left ventri... ORPHA:230851
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Dystrophic fingernails, Thin skin ORPHA:158673
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Polycystic ovaries, Cirrhosis, Decreased ... OMIM:604367
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Cowden Syndrome 1
Thyroid adenoma, Subcutaneous lipoma, Meningioma, Transitional cell carcinoma of the bladder, Fib... OMIM:158350
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri... OMIM:610755
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Coffin-Siris Syndrome 3
Sparse scalp hair, Long philtrum, Umbilical hernia, Hypertrichosis, Intrauterine growth retardati... OMIM:614608
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology, ... ORPHA:54251
Tangier Disease
Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c... OMIM:205400
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hypermobility, Skeletal muscle atrophy, Thin skin ORPHA:230839
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:619013
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hypertriglyceridemia, Hepatomegaly ORPHA:435651
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased... OMIM:618620
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia OMIM:218670
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Dental malocclusion, Downturned corners of mouth, Camptodactyly of finger,... ORPHA:1327
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Striae distensae, Osteoporosis, Thin skin OMIM:219080
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Thick eyebrow, Exagge... ORPHA:2025
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Mandibular prognathia, Thin eyebrow, Open mouth, Protruding tongue, Joint hypermobility, Smooth p... OMIM:617804
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Generalized hypopigmentation of hair, To... ORPHA:238468
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Mandibular prognathia, Thin skin, Microglossia, Elbow flexion contr... OMIM:151050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin ORPHA:743
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia OMIM:278780
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Gene... ORPHA:2222
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia OMIM:615238
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Long ey... ORPHA:2863
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Stuve-Wiedemann Syndrome 1
Thin skin, Carious teeth, Smooth tongue, Pursed lips, Pathologic fracture, Elbow flexion contract... OMIM:601559
Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neurofibromas, Facial neoplasm, ... ORPHA:252183
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hepatic st... ORPHA:528
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Fine hair, Agenesis of pe... ORPHA:2228
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal sacrum morphology, Benign neoplasm of the central nervous system, ... ORPHA:2591
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Joint stiffness, Micrognathia, Narrow mouth,... ORPHA:1979
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Oral leukoplakia, Fine hair, Premature graying of hair, Pathologic fracture, Intraute... OMIM:612199
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Osteopenia, Abnormality of the dentition, Skin ulcer, Delayed eruption of teeth, Abno... ORPHA:2314
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Facial paralysis, Cranial hyperos... OMIM:259710
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatic steatosis, Elevated circulating creatine kinase concent... ORPHA:435660
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Generalized hirsutism, Narrow palat... ORPHA:3019
Oculocerebral Hypopigmentation Syndrome, Cross Type
Limitation of joint mobility, Ureteral stenosis, Narrow mouth, Inguinal hernia, Abnormal palate m... ORPHA:2719
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Osteogenesis Imperfecta, Type I
Osteopenia, Dentinogenesis imperfecta, Increased susceptibility to fractures, Joint hypermobility... OMIM:166200
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Desmoplastic Small Round Cell Tumor
Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Testicular neoplasm, Hepatomega... ORPHA:83469
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Coombs-positive hem... OMIM:614034
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Striae distensae, Nephrolithiasis, Hirsutism, Osteoporosis, Thin skin OMIM:219090
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Intrauterine growth retardation, Microphthalmia OMIM:616171
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Umbilical hernia, Camptodactyly of finger, Joint stiffness, Wide mouth... ORPHA:137834
Biemond Syndrome Type 2
Short stature, Delayed puberty, Microphthalmia ORPHA:141333
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Autoimmun... OMIM:603909
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Torticollis, Arthrogryposis multiplex congenita, Cleft... OMIM:217150
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low posterior hairline, Curly hair, High palate, Sparse hair, Preauricular pit, Thin upper lip ve... OMIM:617506
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Dentinogenesis imperfecta, Carious teeth, Tracheomalacia, Long philtrum, Atrophic sca... ORPHA:536467
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Sparse body hair, Sparse eyelashes, Absent eyelashes, Absent eyebrow... OMIM:305100
Restrictive Dermopathy 1
Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Sparse eyelashes, Absent eyelashes, Hypo... OMIM:275210
Lcat Deficiency
Hemolytic anemia, Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, D... ORPHA:650
Adult Syndrome
Absent nipple, Fair hair, Dermal atrophy, Breast hypoplasia, Alopecia of scalp, Oligodontia, Micr... OMIM:103285
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Scarring, Skin plaque, Subcutaneous nodule... ORPHA:89843
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatosplenomegaly, Micrognathia, Frontal upsweep of hair, High palate, Accessory oral frenulum, ... OMIM:266920
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Flexion contracture, Aplasia cutis congenita, Neonatal death OMIM:612138
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hypocalcemic Vitamin D-Resistant Rickets
Abnormality of the dentition, Alopecia, Coarse metaphyseal trabecularization, Osteomalacia, Recur... ORPHA:93160
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Frontal encephalocele, Microphthalmia ORPHA:1528
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental e... ORPHA:10
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Arterial Tortuosity Syndrome
Bifid uvula, Long philtrum, Umbilical hernia, Micrognathia, Inguinal hernia, Congenital diaphragm... OMIM:208050
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Frontometaphyseal Dysplasia 1
Hypoplasia of the musculature, Partial fusion of carpals, Carpal synostosis, Limited elbow moveme... OMIM:305620
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Striae distensae, Osteopenia, Thin skin OMIM:610475
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Mmep Syndrome
Microphthalmia ORPHA:3434
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Melanoma, Squamous cell carcinoma ORPHA:90342
Temple Syndrome
Precocious puberty, Decreased testicular size, Cryptorchidism, Hypercholesterolemia, Hypertriglyc... OMIM:616222
Otodental Syndrome
Abnormality of canine, Carious teeth, Periodontitis, Abnormal dental pulp morphology, Abnormal mo... ORPHA:2791
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Delayed eruption of teeth, Mi... OMIM:613849
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Spondylodysplastic Ehlers-Danlos Syndrome
Micrognathia, Narrow mouth, Radioulnar synostosis, Osteopenia, Atrophic scars, Multiple joint con... ORPHA:536471
Coffin-Siris Syndrome 2
Sparse scalp hair, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Intrauter... OMIM:614607
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Narrow mouth, High palate, Short philtrum, Thin skin OMIM:201170
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Cofs Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:1466
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Short philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta ORPHA:71267
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:66628
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Multiple prenatal fractures, Recurrent fractures, Thin skin OMIM:166210
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Congenital Bile Acid Synthesis Defect Type 1
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... ORPHA:79301
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Microphthalmia, Isolated 5
Microphthalmia, Cystoid macular edema OMIM:611040
Xk Aprosencephaly Syndrome
Polyhydramnios, Microphthalmia ORPHA:3469
Sarcoma ORPHA:69078
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Hypoplasia of the maxilla, Breast hypoplasia, Intrauterine growth ... OMIM:224690
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the dentition, Alopecia, Abnormal sweat gland morphology, Absent eyelashes, Absent... OMIM:607823
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hypogona... ORPHA:85450
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia OMIM:274270
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ... OMIM:141300
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Dental crowding, Dermal atrophy, Generalized lipodystrophy, Decreased adipose tissue ar... OMIM:608612
Atypical Werner Syndrome
Limitation of joint mobility, Sclerosis of hand bone, Neoplasm of the oral cavity, Generalized li... ORPHA:79474
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Hypoplasia of the... ORPHA:179494
Lowry-Maclean Syndrome
Dermoid cyst, Osteopenia, High, narrow palate, Hypoplasia of the maxilla, Generalized hypertricho... ORPHA:2409
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased HDL cholesterol concentration, Hyperlipidemia, Hepat... ORPHA:247585
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly ORPHA:397596
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Increased urinary cortisol level, Striae distensae, Osteoporosis, Thin skin OMIM:610489
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Oligosacchariduria, Delayed eruption of teeth, Long philtrum, Hypertrichosis, Sp... OMIM:616354
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic... OMIM:601859
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop... ORPHA:457077
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Hypodontia, Delayed eruption of teeth, Joint hypermobility ORPHA:63442
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Vascular Malformation, Primary Intraosseous
Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption, Umbilical hernia, Diastasis recti OMIM:606893
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Microphthalmia OMIM:610023
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Fanconi Anemia, Complementation Group G
Growth delay, Microphthalmia OMIM:614082
Aplasia Cutis Congenita
Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Congenital lo... ORPHA:1114
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion OMIM:613885
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ... OMIM:278760
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Aarskog-Scott Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, High anterior hairline, Delayed eruption... ORPHA:915
Adult Syndrome
Abnormality of the dentition, Alopecia, Absent nipple, Skin ulcer, Fine hair, Abnormal dental mor... ORPHA:978
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Hepatic steatosis, Cryptorchidism, Hypertriglyceridemia, Hepatomegaly OMIM:615381
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Fine hair, Umbilical hernia, Camptod... ORPHA:920
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Highly arched eyebrow, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of p... OMIM:618342
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity OMIM:300718
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth OMIM:619489
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Elevate... OMIM:616860
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:363400
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Frontal upsweep of hai... OMIM:619797
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Alopecia totalis, Joint stiffness, Nail dystrophy, Aplasia/Hypoplasia ... ORPHA:1366
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology ORPHA:1214
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Anemia, Lymphadenopathy, ... ORPHA:507
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency