Gene Summary

Name:
stromal antigen 1
Synonyms:
Scc3,  SA-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
blind uterus Stag1em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Stag1em1(IMPC)Mbp HOM E15.5 0.00
small spleen Stag1em1(IMPC)Mbp HET Early adult 0.00
abnormal lymph node morphology Stag1em1(IMPC)Mbp HET Late adult 0.00
urinary bladder obstruction Stag1em1(IMPC)Mbp HET Late adult 0.00
abnormal spleen morphology Stag1em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Stag1em1(IMPC)Mbp HET Late adult 0.00
abnormal placenta vasculature Stag1em1(IMPC)Mbp HET E15.5 0.00
small kidney Stag1em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Stag1em1(IMPC)Mbp HOM   Early adult 0.00
increased circulating triglyceride level Stag1em1(IMPC)Mbp HET Early adult 6.79×10-05
microphthalmia Stag1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Stag1em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Stag1em1(IMPC)Mbp HET E15.5 0.00
edema Stag1em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Stag1em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Stag1em1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes 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.

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

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
phenotypes
Matching phenotypes Source
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Scoliosis ORPHA:502434
Intellectual Developmental Disorder, Autosomal Dominant 47
Widely-spaced incisors, Thin eyebrow, Wide mouth OMIM:617635

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Glycogen Storage Disease Vi
Hyperlipidemia, Hypercholesterolemia, Increased hepatic glycogen content, Hepatomegaly, Hypertrig... OMIM:232700
Fish-Eye Disease
Decreased HDL cholesterol concentration, Increased VLDL cholesterol concentration, Hypertriglycer... OMIM:136120
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia OMIM:306000
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... ORPHA:79506
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis, Anemia, Hypertriglyceridemia OMIM:608898
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:144300
Growth Factors, Combined Defect Of
Lipodystrophy, Narrow mouth, Flexion contracture, Dermal atrophy, Reduced subcutaneous adipose ti... OMIM:233805
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Nanophthalmos 2
Microphthalmia OMIM:609549
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Edema, Intrauterine growth retardation OMIM:616570
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Hypercholesterolemia, Familial, 4
Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:603813
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Hypercholesterolemia, Azoospermia, Oligospermia, Hypertriglyceridemia, Increas... OMIM:615703
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma OMIM:603641
Acrogeria
Fine hair, Lipoatrophy, Micrognathia, Skin ulcer, Thin skin, Joint hyperflexibility, Aplasia/Hypo... ORPHA:2500
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Intrahepatic cholestasis, H... OMIM:605814
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Kerion Celsi
Lymphadenopathy ORPHA:499
Ewing Sarcoma
Ewing sarcoma OMIM:612219
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Lipodystrophy, Narrow mouth, Flexion contracture, Atypical scarring of skin, Osteopenia, Abnormal... ORPHA:75496
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Arthrochalasia Ehlers-Danlos Syndrome
Joint stiffness, Femoral hernia, Micrognathia, Inguinal hernia, Abnormality of subcutaneous fat t... ORPHA:1899
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Webbed neck, Bifid uvula, Osteopenia, Delayed eruption of teeth, Joint laxity, Hypod... OMIM:612350
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Intrauterine growth retardation, Aplasia/Hypoplasia of the eyebrow, Skin dimple, ... ORPHA:261304
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Splenomegaly, Hepatomegaly... OMIM:207750
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Ehlers-Danlos Syndrome, Periodontal Type, 1
Joint laxity, Periodontitis, Gingival bleeding, Generalized joint laxity, Inguinal hernia, Premat... OMIM:130080
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Lymphadenopat... ORPHA:100024
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Hypertriglyceridemia, Cirrhosis ORPHA:75234
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenomegaly, Hepatome... OMIM:612526
Nanophthalmos 4
Microphthalmia OMIM:615972
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Familial Partial Lipodystrophy, Dunnigan Type
Lipodystrophy, Cellulitis, Generalized hirsutism, Splenomegaly, Lipoatrophy, Abnormality of skele... ORPHA:2348
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Increased subcutaneous truncal adipose tissue, Acroosteo... ORPHA:2457
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Multiple prenatal fractures, Thin skin, Stillbirth, Bowing of l... OMIM:259410
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Joint stiffness, Skeletal muscle atrophy, Abnormal hair morphol... ORPHA:2028
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Hypodontia, Sparse body hair, Abnormality of dental morphology, ... ORPHA:1810
X-Linked Ehlers-Danlos Syndrome
Hernia, Inguinal hernia, Umbilical hernia, Thin skin, Joint hyperflexibility ORPHA:75497
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Fetal Encasement Syndrome
Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Congenital diaphragmatic he... OMIM:613630
Dermoodontodysplasia
Microdontia, Sparse body hair, Trichodysplasia, Mandibular prognathia, Sparse scalp hair, Tooth a... ORPHA:1660
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Minimal subcutaneous fat, Muscle hypertrophy of the lower extremities, Micrognathia, Acroosteolys... ORPHA:280365
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Dermoodontodysplasia
Hypodontia, Trichodysplasia, Thin skin OMIM:125640
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Short Syndrome
Lipodystrophy, Delayed eruption of teeth, Intrauterine growth retardation, Joint laxity, Hypodont... OMIM:269880
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Lowry-Maclean Syndrome
Preauricular pit, Craniosynostosis, Intrauterine growth retardation, Delayed eruption of teeth, D... OMIM:600252
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Osteopenia, Joint stiffness, Hernia, Osteoporosis, Femoral hernia, Osteomalacia, I... ORPHA:1901
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin, Osteopenia, Flexion contracture, Thenar muscle atrophy ORPHA:157965
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Absence Of Fingerprints-Congenital Milia Syndrome
Camptodactyly of finger, Thin skin, Milia ORPHA:1658
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Congenital Heart Defects And Ectodermal Dysplasia
Premature loss of primary teeth, Microdontia, Widely spaced teeth, Sparse scalp hair, Thin skin OMIM:617364
Pseudoprogeria Syndrome
Joint stiffness, Absent eyelashes, Sparse eyebrow, Absent eyebrow, Thin skin, Alopecia, Sparse hair ORPHA:2985
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hepatic steatosis, Hepatomegaly, Hypertriglyc... OMIM:610717
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Maffucci Syndrome
Multiple enchondromatosis, Sarcoma, Neoplasm of the adrenal cortex, Chondrosarcoma, Hemangiomatos... ORPHA:163634
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, Dermal atrophy, Abnormal hair morphology, Osteolytic defects of the distal phalange... ORPHA:90154
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Splenomegaly, Lipoatrophy, Abnormality of skeletal muscle fiber size, Myop... ORPHA:79083
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Familial Cervical Artery Dissection
Facial palsy, Thin skin, Abnormality of connective tissue, Striae distensae ORPHA:36382
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Focal Dermal Hypoplasia
Dermal atrophy, Open bite, Hernia, Diastasis recti, Hydronephrosis, Inguinal hernia, Multicystic ... ORPHA:2092
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hypercholest... OMIM:238600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Dentinogenesis Imperfecta
Hyperextensibility at elbow, Finger joint hypermobility, Knee joint hypermobility, Abnormal denta... ORPHA:49042
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Glass Syndrome
Narrow mouth, High palate, Conical tooth, Oligodontia, Sparse hair, Micrognathia, Inguinal hernia... OMIM:612313
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fractures of the long bones, Osteopenia, Skeletal muscle atrophy, Limb... OMIM:112250
Prolidase Deficiency
Generalized hirsutism, Carious teeth, Splenomegaly, White forelock, Micrognathia, Papule, Low ant... ORPHA:742
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia ORPHA:79085
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Amyloidosis, Familial Visceral
Nephrotic syndrome, Cholestasis, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Increased circulating chylomicron concentration, Recurrent pancreatitis, Sp... OMIM:615947
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Oligodontia, Aplasia cutis congenita, Small, conical teeth, Abnormality of the dentition ORPHA:79499
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Joint laxity, Thin skin, Atypical scarring of skin, Striae distensae OMIM:225310
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Silver-Russell Syndrome 2
Thin skin, Downturned corners of mouth, Intrauterine growth retardation, Micrognathia OMIM:618905
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated plasma citrulline, Portal inflammation, Hyperargininemia, Hypertrigly... OMIM:603471
Pycnodysostosis
Increased bone mineral density, Persistence of primary teeth, Osteolytic defects of the distal ph... OMIM:265800
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatosplenomegaly, Hepa... OMIM:278000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Nephrotic syndrome, Hepatosplenomegaly, Autoimmune hemoly... OMIM:615559
Palmoplantar Carcinoma, Multiple Self-Healing
Short neck, Squamous cell carcinoma, Carcinoma OMIM:615225
Marshall-Smith Syndrome
Generalized hirsutism, Craniosynostosis, Protruding tongue, Open mouth, Increased susceptibility ... ORPHA:561
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Fryns Microphthalmia Syndrome
Neural tube defect, Anophthalmia, Microphthalmia OMIM:600776
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Decreased proportion of CD4-positive helpe... ORPHA:543
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Ataxia With Vitamin E Deficiency
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:277460
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... OMIM:144250
19Q13.11 Microdeletion Syndrome
Solitary median maxillary central incisor, Intrauterine growth retardation, Sparse lateral eyebro... ORPHA:217346
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Rapp-Hodgkin Syndrome
Narrow mouth, Bifid uvula, Cleft upper lip, Velopharyngeal insufficiency, Conical tooth, Progress... OMIM:129400
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Inguinal hernia, Joint laxity, Thin skin, Atrophic scars OMIM:225320
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Shagreen patch, Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Hy... ORPHA:1816
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Intrauterine growth retardation, Carious teeth, Congenital diaphragmatic hernia, Nar... OMIM:617602
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atrophic, patchy alopecia, Atypical scarring of skin, Enamel hypoplasia, Scar... ORPHA:251393
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Pancre... ORPHA:435651
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly OMIM:615895
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Hypertri... OMIM:613027
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, Aplasia cutis congenita, Sp... ORPHA:79402
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Alopecia, Anemia, Abnormal dental enamel morphology, M... ORPHA:2325
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Geroderma Osteodysplastica
Recurrent fractures, Hernia, Osteoporosis, Abnormal bone ossification, Malar flattening, Mandibul... ORPHA:2078
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, Increased circulating ferritin concentration, T lymphocytopenia, Impaired lym... OMIM:619313
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Aplasia cutis congenita, Carious teeth, Nail dystrophy, Skin erosion, Mili... ORPHA:79411
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Short stature, Intrauterine growth retardation OMIM:616171
Mandibuloacral Dysplasia With Type A Lipodystrophy
High palate, Flexion contracture, Dermal atrophy, Absent eyelashes, Osteolytic defects of the dis... ORPHA:90153
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Cirrhosis, N... OMIM:214900
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Periventricular Nodular Heterotopia
Joint hypermobility, Thin skin, Hernia ORPHA:98892
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Dermal atrophy, Carious teeth, Increased bone de... OMIM:136300
Temple Syndrome
Cryptorchidism, Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size OMIM:616222
Hereditary Acrokeratotic Poikiloderma
Open bite, Trismus, Abnormal pigmentation of the oral mucosa, Skin ulcer, Abnormal preputium morp... ORPHA:2907
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Aplasia cutis congenita, Thick upper lip vermilion, Ski... ORPHA:79133
Parastremmatic Dwarfism
Short neck, Kyphosis, Scoliosis OMIM:168400
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Short stature, Growth delay ORPHA:2528
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Nanophthalmos
Microphthalmia ORPHA:35612
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Oncogenic Osteomalacia
Giant cell tumor of bone, Carcinoma, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Abno... ORPHA:352540
Classical-Like Ehlers-Danlos Syndrome Type 1
Joint hyperflexibility, Skeletal muscle atrophy, Thin skin, Joint hypermobility ORPHA:230839
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Lipe-Related Familial Partial Lipodystrophy
Abnormal labia majora morphology, Hepatic steatosis, Hyperlipidemia, Polycystic ovaries, Hepatome... ORPHA:435660
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnor... ORPHA:158061
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Lymphadenopathy OMIM:212050
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Cleft lip, Inguinal hernia, Increased overbite, Camptod... OMIM:618761
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Gingival Fibromatosis-Hypertrichosis Syndrome
Generalized hirsutism, Delayed eruption of teeth, Thick eyebrow, Gingival fibromatosis, Synophrys... ORPHA:2026
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Stuve-Wiedemann Syndrome 1
Contracture of the proximal interphalangeal joint of the 5th finger, Smooth tongue, Thickened cor... OMIM:601559
Fibromatosis, Gingival, With Distinctive Facies
High palate, Thick eyebrow, Gingival fibromatosis, Everted lower lip vermilion, Delayed eruption ... OMIM:228560
Aredyld Syndrome
Narrow mouth, Abnormality of the ureter, Intrauterine growth retardation, Craniofacial hyperostos... ORPHA:1133
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Osteogenesis Imperfecta, Type Xii
Narrow mouth, Generalized osteoporosis, High palate, Delayed eruption of teeth, Osteoporosis, Mic... OMIM:613849
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Schopf-Schulz-Passarge Syndrome
Poroma, Basal cell carcinoma, Squamous cell carcinoma, Apocrine hidrocystoma OMIM:224750
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Pulp calcification, Enamel hypoplasia,... OMIM:166750
Kosaki Overgrowth Syndrome
Thin upper lip vermilion, Thin skin OMIM:616592
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Carcinoma, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adeno... OMIM:610755
Heme Oxygenase 1 Deficiency
Hematuria, Proteinuria, Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopath... OMIM:614034
Primary Pigmented Nodular Adrenocortical Disease
Nephrolithiasis, Striae distensae, Increased urinary cortisol level, Increased susceptibility to ... ORPHA:189439
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Aplasia/Hypoplasia of the eyebrow, Microdontia, Supernumerary nipple, Fine hair, Hypoplasia of pe... ORPHA:1812
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hypophosphatasia, Adult
Premature loss of primary teeth, Recurrent fractures, Carious teeth, Increased susceptibility to ... OMIM:146300
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Jaundice, Elevated urinary delta-a... OMIM:121300
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Aplasia/Hypoplasia of the skin, Thin skin ORPHA:743
De Barsy Syndrome
Lipodystrophy, Narrow mouth, High palate, Osteopenia, Delayed eruption of teeth, Intrauterine gro... ORPHA:2962
Cowden Syndrome 1
Subcutaneous lipoma, Kyphosis, Carcinoma, Breast carcinoma, Ovarian carcinoma, Meningioma, Hamart... OMIM:158350
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Hypertriglyceridemia OMIM:608600
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Sacral dimple, Intrauterine growth retardation, Open bite, Abnormality... ORPHA:1327
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Polycystic ovaries, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased ... OMIM:604367
Lenz-Majewski Hyperostotic Dwarfism
Intrauterine growth retardation, Chordee, Sparse hair, Micrognathia, Proximal symphalangism of ha... OMIM:151050
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Sparse hair, Inguinal hernia, Thin skin, Elbow flexion contracture, Thin vermilion border OMIM:614438
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Increased C-peptide level, Hepatomegaly, Hypertriglyceridemia OMIM:615238
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Gi... ORPHA:2222
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Cutis Laxa, Autosomal Recessive, Type Iiia
Narrow mouth, Intrauterine growth retardation, Sparse hair, Joint hypermobility, Inguinal hernia,... OMIM:219150
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Nephrotic syndrome, Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Trichorrhexi... ORPHA:238468
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatic steatosis, Hepatosplenomegaly, Hypoalbuminemia, Hypertriglyceridemia OMIM:619013
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Hypercholesterolemia, Cholesterol gallstones, Acute hepatic steat... ORPHA:209902
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Growth delay OMIM:278780
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Delayed eruption of teeth, Thick eyebrow, Gingival fibromatosis, Everted lower lip v... ORPHA:2025
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Dystrophic toenail, Erythematous plaque, Dystrophic fingernails, Thin skin, Milia ORPHA:158673
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Striae distensae, Skeletal muscle atrophy, Osteoporosis, Thin skin OMIM:219080
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Congenital Generalized Lipodystrophy
Hepatic steatosis, Increased C-peptide level, Precocious puberty in females, Polycystic ovaries, ... ORPHA:528
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Ovotestis, Hypercholesterolemia, External genital hypoplasia, Hypertriglyceridemia, Ambiguous gen... OMIM:610644
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, High palate, Delayed eruption of teeth, Long eyelashes, Midshaft hypospadi... ORPHA:2863
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Hypodontia-Dysplasia Of Nails Syndrome
Agenesis of permanent teeth, Delayed eruption of teeth, Conical tooth, Hypodontia, Everted lower ... ORPHA:2228
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Thin skin, Aplasia/Hypoplasia of the skin ORPHA:745
Harderoporphyria
Red urine, Splenomegaly, Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary ... OMIM:618892
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipodystrophy, Narrow mouth, Premature graying of hair, Flexion contracture, Joint stiffness, Abn... ORPHA:1979
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Hypopigmentation of hair, Abnormal palate morphology, Ureteral stenosis, Microdonti... ORPHA:2719
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Penoscrotal hypospadias, Sex reversal, Ambiguous genitalia, Exaggerated... OMIM:612965
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Pancytopenia, Diaphyseal sclerosis, Hepatosplenomegaly, Recurrent fractures... OMIM:259710
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Infantile Myofibromatosis
Abnormal sacrum morphology, Sarcoma, Fibroma, Gingival fibromatosis, Benign neoplasm of the centr... ORPHA:2591
Ramon Syndrome
Generalized hirsutism, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel m... ORPHA:3019
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Neurofibroma
Palmar neurofibromas, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Neoplasi... ORPHA:252183
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Cardiac-Valvular Ehlers-Danlos Syndrome
High palate, Tendon rupture, Thick eyebrow, Joint hypermobility, Inguinal hernia, Hypermobility o... ORPHA:230851
Brachyolmia Type 1, Hobaek Type
Kyphosis, Short neck, Intervertebral space narrowing, Back pain, Scoliosis, Squared-off platyspon... OMIM:271530
Frontometaphyseal Dysplasia 1
High palate, Dental malocclusion, Increased density of long bone diaphyses, Partial fusion of tar... OMIM:305620
Biemond Syndrome Type 2
Microphthalmia, Short stature, Delayed puberty ORPHA:141333
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Absent eyelashes, Absent eyebrow, Thin skin, Alopecia, Abnormality of the dentition, Sparse hair OMIM:607823
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Autosomal Dominant Hyper-Ige Syndrome
Cellulitis, Eosinophilia, Craniosynostosis, Osteopenia, Recurrent fractures, Delayed eruption of ... ORPHA:2314
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita, Torticollis, Cleft... OMIM:217150
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia, Arrhinencephaly, Frontal encephalocele OMIM:218670
Pigmented Nodular Adrenocortical Disease, Primary, 2
Thin skin, Osteopenia, Osteoporosis, Striae distensae OMIM:610475
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Elevated hemoglobin A1c, Hypertriglyceridemia, Increased... OMIM:618620
Pituitary Adenoma 4, Acth-Secreting
Nephrolithiasis, Striae distensae, Skeletal muscle atrophy, Osteoporosis, Thin skin, Hirsutism OMIM:219090
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Brittle hair, Flexion contracture, Dermal atrophy, Decreased adipose t... OMIM:608612
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Joint hypermobility, Thin... OMIM:166200
Frank-Ter Haar Syndrome
Short philtrum, Joint stiffness, Delayed eruption of teeth, Inguinal hernia, Wide mouth, Osteolys... ORPHA:137834
Lcat Deficiency
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Decreased circul... ORPHA:650
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Adult Syndrome
Fair hair, Dermal atrophy, Absent nipple, Oligodontia, Hypodontia, Microdontia, Hypoplastic nippl... OMIM:103285
Hypocalcemic Vitamin D-Resistant Rickets
Premature loss of primary teeth, Recurrent fractures, Nephrolithiasis, Abnormal bone structure, O... ORPHA:93160
Glycerol Kinase Deficiency
Cryptorchidism, Hypertriglyceridemia OMIM:307030
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Dystrophic Epidermolysis Bullosa Pruriginosa
Dermal atrophy, Papule, Nail dystrophy, Subcutaneous nodule, Scarring, Milia, Skin plaque, Atroph... ORPHA:89843
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Aplasia cutis congenita, Flexion contracture OMIM:612138
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 14
Cryptorchidism, Micropenis, Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia, Hypogonadism OMIM:617575
Acrofacial Dysostosis Syndrome Of Rodriguez
Narrow mouth, High palate, Short philtrum, Micrognathia, Thin skin OMIM:201170
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Hypoplastic-absent sebaceous glands, Conical tooth, Abnormal oral mucosa morphology... OMIM:305100
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Recurrent fractures, Abnormal penis morphology, Multiple cafe-au-lait spots, Subcutaneous nodule,... ORPHA:457059
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration,... ORPHA:247598
Buschke-Ollendorff Syndrome
Diffuse skin atrophy, Craniosynostosis, Flexion contracture, Atypical scarring of skin, Joint sti... ORPHA:1306
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Large Congenital Melanocytic Nevus
Sarcoma, Rhabdomyosarcoma, Cutaneous melanoma, Neoplasm, Neoplasm of the skin ORPHA:626
Meier-Gorlin Syndrome 1
Narrow mouth, Absent sternal ossification, High palate, Thick vermilion border, Flexion contractu... OMIM:224690
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum, Ascites ORPHA:26790
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Thin skin, Recurrent fractures, Multiple prenatal fractures OMIM:166210
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Azoospermia, Carious teeth, Thick lower lip vermilion, Hypo... ORPHA:10
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Xk Aprosencephaly Syndrome
Microphthalmia, Polyhydramnios ORPHA:3469
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Polycystic ovaries, Hypercholesterolemia, Splenomegaly, Hepatomeg... ORPHA:370
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Hemifacial Atrophy, Progressive
Tongue atrophy, Patchy alopecia, Delayed eruption of teeth, Poliosis, Dental malocclusion, Short ... OMIM:141300
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Anetoderma, Dermal atrophy OMIM:250450
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Narrow mouth, Flexion contracture, Intrauterine growth retardation, Hypodontia, Lip... OMIM:264090
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Oral leukoplakia, Osteopenia, Intrauterine growth retardation, Osteoporosis, Increased susceptibi... OMIM:612199
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Growth delay OMIM:274270
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Immunodeficiency 32B
Splenomegaly OMIM:226990
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatic steatosis, Cryptorchidism, Hepatomegaly, Hypertriglyceridemia, Hypogonadism OMIM:615381
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Hypoplasia of the ovar... ORPHA:66628
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Cofs Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:1466
Premature Aging Syndrome, Penttinen Type
Osteopenia, Delayed eruption of teeth, Lipoatrophy, Micrognathia, Hypoplasia of the maxilla, Oste... OMIM:601812
Liposarcoma
Sarcoma ORPHA:69078
Angel-Shaped Phalango-Epiphyseal Dysplasia
Joint hyperflexibility, Hypodontia, Hip osteoarthritis, Delayed eruption of teeth ORPHA:63442
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Dentinogenesis imperfecta, Osteoporosis, Delayed eruption of teeth ORPHA:71267
Atypical Werner Syndrome
Glycosuria, Sclerosis of hand bone, Aplasia/Hypoplasia of the eyebrow, Osteoporosis, Micrognathia... ORPHA:79474
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Striae distensae, Increased urinary cortisol level, Osteoporosis, Thin skin OMIM:610489
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Short neck, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:613313
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Long philtrum, Coarse hair, Widely spaced teeth, Slow-growing hair, Highly arched ey... OMIM:617506
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Long philtrum, Generalized joint laxity, Micrognathia, Inguinal hernia,... ORPHA:536471
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Intrauterine growth retardation, Osteoporosis, Hypospadias, Congeni... ORPHA:2409
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Mmep Syndrome
Microphthalmia ORPHA:3434
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Nephrotic syndrome, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurren... OMIM:618935
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Craniosynostosis, Osteopenia, Multiple joint contractures, Tracheomalacia, Recurrent... ORPHA:536467
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes,... ORPHA:54251
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Nephrotic syndrome, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia,... ORPHA:911
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver, Hematuria ORPHA:654
Citrullinemia Type Ii
Hepatic steatosis, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Spinal rigidity OMIM:618323
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased testicular size, Hypertriglyceride... ORPHA:179494
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Enamel hypoplasia, Carious teeth, Nail dystrophy, Milia, At... OMIM:226700
Aarskog-Scott Syndrome
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Abnormality of the dentition, Abnormal... ORPHA:915
Fanconi Anemia, Complementation Group G
Microphthalmia, Growth delay OMIM:614082
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia, Encephalocele OMIM:613885
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Short stature OMIM:610023
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Nephrotic syndrome, Thrombocytopenia, Splenomegaly OMIM:615846
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Septo-optic dysplasia, Arrhinencephaly ORPHA:1528
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency