Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Analbuminemia |
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Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:312863 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells |
OMIM:608957 |
Nephrotic Syndrome, Type 2 |
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Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Erythroderma, Lethal Congenital |
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Hypoalbuminemia |
OMIM:227090 |
Microcephaly With Cervical Spine Fusion Anomalies |
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Vertebral fusion, Spinal instability |
OMIM:251250 |
Nephrotic Syndrome, Type 15 |
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Hypoalbuminemia |
OMIM:617609 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
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Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia |
OMIM:242870 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
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Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Delayed skeletal maturation, Decreased LDL cholesterol c... |
OMIM:616834 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Bone pain, Hypocholesterolemia |
OMIM:610539 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Congenital Analbuminemia |
|
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... |
ORPHA:86816 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Immunodeficiency 97 With Autoinflammation |
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Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:208920 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility, Scoliosis |
OMIM:619013 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlor... |
OMIM:606612 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Scoliosis |
ORPHA:79320 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Inguinal hernia, Elbow contracture, Multiple pterygia, Short n... |
OMIM:178110 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Camptodactyly, Join... |
OMIM:113000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Galloway-Mowat Syndrome 6 |
|
Delayed skeletal maturation, Hypoalbuminemia |
OMIM:618347 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... |
OMIM:618156 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormality of the vertebral column, Scoliosis, Cervical ... |
ORPHA:2345 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck |
OMIM:244600 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Knee pain, Hypoalbuminemia |
OMIM:614441 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck |
OMIM:214300 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Immunodeficiency 27A |
|
Salmonella osteomyelitis, Hypoalbuminemia |
OMIM:209950 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... |
ORPHA:2916 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly, Short neck |
OMIM:608104 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Rickets, Steatorrhea |
OMIM:607765 |
Potocki-Lupski Syndrome |
|
Scoliosis, Hypocholesterolemia |
OMIM:610883 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, T... |
ORPHA:2332 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea |
ORPHA:2070 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short neck, Joint hyperflexibility, Um... |
ORPHA:915 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, Abnormal bone ossification, Abnormal vertebral morpholo... |
ORPHA:93315 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Osteoarthritis, Gene... |
OMIM:618000 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr... |
ORPHA:90650 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Scoliosis |
OMIM:615583 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hemivertebrae, Scoliosis |
ORPHA:377 |
Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1445 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Steator... |
OMIM:212065 |
Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... |
ORPHA:247353 |
Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
Immunodeficiency 17 |
|
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Xfe Progeroid Syndrome |
|
Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Scoliosis, Enamel hypoplasia |
OMIM:610965 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck,... |
OMIM:272460 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Alg12-Cdg |
|
Hyponatremia, Ulnar deviation of the wrist, Hypoalbuminemia, Abnormal adipose tissue morphology, ... |
ORPHA:79324 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck |
OMIM:118100 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulatin... |
ORPHA:36234 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Kyphoscoliosis, Decreased LDL cholesterol co... |
ORPHA:14 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Frontometaphyseal Dysplasia 1 |
|
Interphalangeal joint contracture of finger, Limited elbow movement, Ankle flexion contracture, C... |
OMIM:305620 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Short neck, Kyphosis, Keloids, Sclerosis of skull base, Scolio... |
OMIM:130720 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Flexion contracture, Atypical scarring of skin, Decreased serum zinc, Hypoa... |
ORPHA:89842 |
Immunodeficiency 102 |
|
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... |
OMIM:301082 |
Mucopolysaccharidosis-Plus Syndrome |
|
Acetabular dysplasia, Flexion contracture, Hypoalbuminemia, Short neck |
OMIM:617303 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed skeletal maturation, Spina bifida occulta, Hypoalbuminemia, Scoliosis, Camptodactyly, Umb... |
OMIM:235510 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration, Bone pain |
ORPHA:86839 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Osteolysis, Fus... |
OMIM:612852 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernu... |
OMIM:271520 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:619055 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormal dental enamel morphology, Kyphosis, Hip dislocation, Joint hyperflexib... |
ORPHA:96169 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, Hip dislocation, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Joint stiffness, Flexion contracture, Lumbar kyphosis, Thoracic... |
ORPHA:505248 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Joint hypermobilit... |
OMIM:277900 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Elbow dislocation, Dislocated wrist, Accessory... |
OMIM:150250 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Aicardi-Goutieres Syndrome 9 |
|
Osteoporosis, Hypoalbuminemia, Scoliosis |
OMIM:619487 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi... |
ORPHA:186 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
Galloway-Mowat Syndrome 1 |
|
Hiatus hernia, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly |
OMIM:251300 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia |
ORPHA:79396 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... |
ORPHA:331235 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Genu v... |
OMIM:171480 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D... |
ORPHA:37042 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Scoliosis, J... |
OMIM:610443 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Delayed skeletal maturation, Rickets, Reduced bone min... |
OMIM:613658 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Osteoart... |
ORPHA:2298 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Thoracolumbar scoliosis, Sho... |
OMIM:268310 |
Trichohepatoenteric Syndrome 1 |
|
Avascular necrosis of the capital femoral epiphysis, Increased serum iron, Hypoalbuminemia, Hyper... |
OMIM:222470 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Inguinal hernia, Cranio... |
OMIM:213980 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Elbow di... |
ORPHA:90652 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ovoid vertebral bodies, Hypocholesterolemia |
OMIM:244450 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Interphalangeal joint contracture of finger, Limited elbow move... |
ORPHA:1826 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Irregular ossification of hand bones, Hemivertebrae, Vertebral ... |
OMIM:109400 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Shashi-Pena Syndrome |
|
Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion |
OMIM:617190 |
Dubowitz Syndrome |
|
Sacral dimple, Delayed skeletal maturation, Inguinal hernia, Hypocholesterolemia |
OMIM:223370 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Smith-Lemli-Opitz Syndrome |
|
Sacral dimple, Hip dislocation, Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-deh... |
OMIM:270400 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulat... |
ORPHA:99826 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Hip dislocation, Fused cervical vertebrae, Patellar dislocatio... |
ORPHA:3320 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Delayed skeletal maturation, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Inguinal hernia, Congenital hip dislocation, Camptodactyly of fing... |
ORPHA:373 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae |
OMIM:619227 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Osteoporosis, Hypoalbuminemia |
ORPHA:171 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
Duane Retraction Syndrome |
|
Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Abnormal ... |
ORPHA:233 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Hyperextensible hand joints, Camptodactyly |
OMIM:227330 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Jo... |
OMIM:619381 |
Aicardi Syndrome |
|
Block vertebrae, Hiatus hernia, Hemivertebrae, Scoliosis, Lipoma, Butterfly vertebrae |
OMIM:304050 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck |
ORPHA:1780 |
Myhre Syndrome |
|
Vertebral fusion, Short neck, Joint stiffness, Limitation of joint mobility, Enlarged vertebral p... |
OMIM:139210 |
Aicardi Syndrome |
|
Block vertebrae, Hiatus hernia, Multiple lipomas, Scoliosis, Butterfly vertebrae |
ORPHA:50 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Flat acetabular roof |
OMIM:617159 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Knee dislocation, Fused cervical vertebrae... |
OMIM:108720 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Cervical hemivertebrae, Short neck, Generalized joint laxity, Hip dislocation... |
ORPHA:508498 |
Apert Syndrome |
|
Sagittal craniosynostosis, Limited elbow movement, Craniosynostosis, Delayed epiphyseal ossificat... |
OMIM:101200 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen... |
OMIM:619534 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Fused cervical vertebrae, Scolios... |
OMIM:617137 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Kyphoscoliosis, Hemivertebrae, Scoliosis, Umbilical hernia |
ORPHA:97360 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Delayed skeletal maturation, Hip dislocation, Abnormal... |
OMIM:194190 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Fu... |
OMIM:157800 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae |
OMIM:306955 |
Thrombocytopenia-Absent Radius Syndrome |
|
Patellar aplasia, Hip dislocation, Fused cervical vertebrae, Patellar dislocation, Carpal synosto... |
OMIM:274000 |
Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion |
OMIM:616368 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:3261 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Kyphoscoliosis, Reduced thy... |
ORPHA:79318 |
Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Inguinal hernia, Short neck, Hip dislocation, Cervical C5/C6 vertebrae fusion, Cam... |
OMIM:613458 |
Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Contracture of the distal interphalangeal joint of the fingers, Cleft vertebral ... |
ORPHA:83617 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Tracheomalacia, Cervical C2/C3 vertebral fusion, Abnormal vertebral morphology, Hi... |
ORPHA:444077 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical... |
ORPHA:51608 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Hemivertebrae, Genu valgum, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |
Epidermodysplasia Verruciformis |
|
|
ORPHA:302 |
Epidermodysplasia Verruciformis, Susceptibility To, 1 |
|
|
OMIM:226400 |