Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... |
OMIM:618982 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Mesangial hypercellularity, Cryptorchidism... |
OMIM:617575 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... |
OMIM:614650 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, Bilateral sensorineural hearing impairment, IgA ... |
OMIM:182690 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S... |
OMIM:617730 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Ectopic kidney, Anteverted ears, Thickened helices, Vesicoureteral reflux, Micropenis, Cryptorchi... |
OMIM:617641 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Sensorineural hearing impairment, Proteinuria, Stage 5 chroni... |
OMIM:614455 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Low-set ears, Decr... |
OMIM:617564 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Large earlobe, S... |
OMIM:617731 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... |
OMIM:615244 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia, Hearing impairment |
OMIM:610896 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Hearing impairment |
ORPHA:140976 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memo... |
OMIM:619126 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Chronic kidney disease, Stage 5 chronic kidney disease, Neph... |
ORPHA:3156 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Follicular hyperplasi... |
OMIM:614470 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:619603 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... |
OMIM:615993 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Low-set ears, Wide nasal bridge, Polycystic kidney dysplasia |
OMIM:614859 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... |
OMIM:615382 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... |
OMIM:607624 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... |
OMIM:618347 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... |
OMIM:619902 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Retinal cotton wool spot, Gastrointestinal hemorrhage, Proteinuria, Nodular re... |
ORPHA:247691 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Depressed nasal bridge, Hepatosplenomegaly, Polycystic kidney dysplasia, Low-set ea... |
OMIM:608776 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... |
OMIM:618261 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Obesity, Hydronephrosis, Hearing... |
OMIM:615996 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:603909 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Obesity,... |
ORPHA:171839 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Trichohepatoenteric Syndrome 1 |
|
Depressed nasal ridge, Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Anteverted n... |
OMIM:222470 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Highly arched eyebrow, Synophrys, Renal hypoplasia, Microtia,... |
OMIM:616854 |
Split-Hand/Foot Malformation 3 |
|
Ridged nail, Abnormal pinna morphology, Renal hypoplasia, Nail dystrophy, Nail dysplasia |
OMIM:246560 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Hadziselimovic Syndrome |
|
Posteriorly rotated ears, Low anterior hairline, Renal hypoplasia, Low-set ears, Failure to thrive |
OMIM:612946 |
Meckel Syndrome, Type 8 |
|
Low-set ears, Polycystic kidney dysplasia, Short nose, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Lo... |
OMIM:617661 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Chorioretinal hypopigmentation, Hypoalbuminemia, Macrovesicular hepatic steatosis, Ne... |
OMIM:617303 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula... |
OMIM:619428 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Abnormal pinna morphology, Glutaric aciduria, Jaundice, Gen... |
OMIM:231680 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Hepatomegaly, Dysgammaglobulinemia, Malabsorption,... |
ORPHA:100025 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Abnormality of retinal pigmentation, Nephronophthisis |
ORPHA:474 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... |
OMIM:214110 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Hypermelanotic macule,... |
OMIM:242900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Microtia, ... |
ORPHA:1988 |
Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Aplasia/Hypoplasia of the earlobes, Renal hy... |
ORPHA:1745 |
C Syndrome |
|
Hepatomegaly, Anteverted nares, Short stature, Posteriorly rotated ears, Cryptorchidism, Patent d... |
OMIM:211750 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Failure to thrive, Severe B lymphocytopenia, Aplasia of the thymus, ... |
OMIM:102700 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricusp... |
OMIM:614866 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Short stature, Reduced natural killer cell activity, Thrombocytope... |
OMIM:616050 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Renal hypoplasia,... |
ORPHA:85284 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Anteverted nares, Cardiomegaly, Conjugated hyperbilirubinemia, S... |
OMIM:269920 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Low-set ears, Neonatal death, Wide nasal bridge, Renal cyst |
OMIM:614870 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Failu... |
OMIM:604273 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Low-set ears, Decreased body weight, Micropenis, Hearing impairment |
OMIM:617926 |
Joubert Syndrome 3 |
|
Highly arched eyebrow, Wide nasal bridge, Stage 5 chronic kidney disease, Pigmentary retinopathy,... |
OMIM:608629 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, E... |
OMIM:614376 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Gemignani Syndrome |
|
Hypoplasia of penis, Short stature, Sensorineural hearing impairment, Hypopigmented skin patches,... |
ORPHA:2074 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:618944 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Sensorineural hearing impairment, Nephrotic s... |
OMIM:607426 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin... |
ORPHA:85321 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Wide nasal bridge, Renal hypoplasia, Protruding ear |
ORPHA:2256 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Syndromic Diarrhea |
|
Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastoma, Hypothyroid... |
ORPHA:84064 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Cryptorchidism, Wide nasal b... |
ORPHA:1703 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Cach Syndrome |
|
Optic atrophy, Nonketotic hyperglycinemia, Renal hypoplasia, Hepatosplenomegaly, Growth delay, Go... |
ORPHA:135 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Nephronophthisis |
|
Abnormality of retinal pigmentation, Renal insufficiency, Anemia |
ORPHA:655 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Failure to thrive, Proteinuria, Small for gestational age, Hypermelanotic macule, Mi... |
ORPHA:1830 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Small for gestational age, Abnormal renal corticomedullary differentiation, Hear... |
OMIM:616733 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Unilateral renal agenesis, Dilatated internal audito... |
OMIM:113650 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Low... |
OMIM:617729 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Low-set ears, Neonatal death, Renal ... |
OMIM:236500 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Cryptorchidism, Sensorineural hearing impairment, Renal hypoplasia, Fi... |
OMIM:616817 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr... |
OMIM:601389 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombo... |
OMIM:304790 |
Nephronophthisis 19 |
|
Splenomegaly, Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosi... |
OMIM:616217 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Villous atrophy, Growth delay, Decreased circulating total IgM, T lymphocytopenia, D... |
OMIM:619510 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Hypospadias, Facial palsy, Elevated circulating creatine kinase concentration, Decreased compound... |
OMIM:301830 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Renal hypoplasia, Obesity |
OMIM:600151 |
Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... |
ORPHA:97362 |
White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Short stature, Decreased response to growth hormone stimulation test, Opti... |
OMIM:609053 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Posteriorly rotated ears, Frontotemporal hypertrichosis, Large fleshy ears, Low-set ears, Polycys... |
OMIM:263210 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Fanconi Anemia, Complementation Group F |
|
Hyperpigmentation of the skin, Decreased response to growth hormone stimulation test, Thrombocyto... |
OMIM:603467 |
Dyschromatosis Universalis Hereditaria |
|
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... |
ORPHA:241 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:136680 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... |
OMIM:251300 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Overfolded helix, Low-set ears, Vesicoureteral reflux, Short nose, Failure to t... |
OMIM:613735 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Short stature, Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Lo... |
OMIM:616541 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Elevated circulating creatine kinase conce... |
ORPHA:79323 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Anteverted nares, Brus... |
OMIM:214100 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, ... |
ORPHA:251004 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... |
OMIM:608836 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Short stature, Prominent nasal bridge, Ectopic kidney, Abnormality of the spleen, Rena... |
ORPHA:94063 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis |
OMIM:614464 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616437 |
Pontocerebellar Hypoplasia Type 1 |
|
Peripheral axonal neuropathy, Hypoplasia of the pons, Optic atrophy, Degeneration of anterior hor... |
ORPHA:2254 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Abnormal pinna morphology, Abnormality of the anterior pituitary, Renal h... |
ORPHA:75389 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence |
OMIM:602099 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
Verheij Syndrome |
|
Branchial cyst, Renal agenesis, Optic nerve hypoplasia, Small for gestational age, Anteverted nar... |
OMIM:615583 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Inflammation of the large intes... |
OMIM:614700 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Cupped ear, Dilat... |
ORPHA:314588 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Short stature, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atro... |
ORPHA:254913 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Horseshoe kidney, Microtia, Atresia of the external auditory canal, Conductive hearing impairment... |
ORPHA:2213 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Renal insufficiency, Hypospadias, Ret... |
ORPHA:397715 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha... |
OMIM:241600 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional ab... |
ORPHA:90362 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Generalized hir... |
ORPHA:261290 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi... |
ORPHA:347 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenome... |
OMIM:232220 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy |
OMIM:617892 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... |
ORPHA:2547 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Pseudohypoparathyroidism, Renal hypoplasia, Obe... |
ORPHA:464288 |
Aredyld Syndrome |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Short stature, Cachexia, Abnormal nasal morpholo... |
ORPHA:1133 |
Acrocephalopolydactyly |
|
Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly, Microtia, Short nose |
ORPHA:221054 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... |
OMIM:610205 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Hepa... |
OMIM:602579 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Optic atrophy, Hyperhidrosis, Decreased body weight, Macrotia |
ORPHA:1672 |
Coach Syndrome 1 |
|
Encephalocele, Optic disc pallor, Hepatomegaly, Occipital encephalocele, Anteverted nares, Unilat... |
OMIM:216360 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... |
OMIM:614922 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Protruding ear, Conductive hearing impairment, Heari... |
OMIM:608572 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 c... |
OMIM:619487 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Rhyns Syndrome |
|
Renal insufficiency, Decreased response to growth hormone stimulation test, Sensorineural hearing... |
OMIM:602152 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
H Syndrome |
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Hypertriglyceridemia, Short stature, Abnormality of the kidney, Hearing impairment, Microcytic an... |
ORPHA:168569 |
Immunodeficiency, Common Variable, 11 |
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Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... |
OMIM:615767 |
Familial Reactive Perforating Collagenosis |
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Spotty hyperpigmentation, Abnormal fingernail morphology, Chronic kidney disease, Abnormal pinna ... |
ORPHA:79147 |
Bardet-Biedl Syndrome 4 |
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External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo... |
OMIM:615982 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis... |
ORPHA:49041 |
Papillorenal Syndrome |
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Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Short stat... |
OMIM:120330 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Increased circulating thyroglobulin level, Depressed nasal bridge, Portal hypertens... |
OMIM:610199 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Cranial nerve ... |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
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Amyotrophic lateral sclerosis |
OMIM:205250 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgita... |
ORPHA:505248 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Cupped ear, Unilateral renal hypoplasia, Large earlobe, Vesicoureteral reflux, Sparse lateral eye... |
OMIM:619955 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
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Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... |
ORPHA:412066 |
Immunodeficiency 15A |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
C3 Glomerulopathy |
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Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... |
ORPHA:329918 |
Nephrosialidosis |
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Nephropathy, Nephrotic syndrome, Renal insufficiency, Bone-marrow foam cells |
OMIM:256150 |
Axial Mesodermal Dysplasia Spectrum |
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Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormalit... |
ORPHA:1834 |
Mosaic Trisomy 1 |
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Hepatic agenesis, Depressed nasal bridge, Abnormal pinna morphology, Wide nasal bridge, Renal cor... |
ORPHA:1692 |
Birk-Landau-Perez Syndrome |
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Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas... |
OMIM:617595 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Degeneration of anterior horn cells, Facial palsy, Elevated circulating creatine kinase concentra... |
OMIM:159950 |
Adams-Oliver Syndrome 6 |
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Hypoplastic toenails, Splenomegaly, Renal hypoplasia |
OMIM:616589 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Extraadrenal pheochromocytoma, Proteinuria, Pulsatile tinnitus, Elevated urinary norepinephrine l... |
ORPHA:276621 |
Matthew-Wood Syndrome |
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Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Abnormal ... |
ORPHA:2470 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Renal Failure, Progressive, With Hypertension |
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Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Odontochondrodysplasia 1 |
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Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Congenital Disorder Of Glycosylation, Type If |
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Failure to thrive, Optic atrophy, Renal cortical cysts |
OMIM:609180 |
Amyotrophic Lateral Sclerosis 9 |
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Amyotrophic lateral sclerosis |
OMIM:611895 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n... |
OMIM:105550 |
Craniosynostosis, Herrmann-Opitz Type |
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Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormal antihelix morphology... |
ORPHA:2145 |
Ring Chromosome 8 Syndrome |
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Anteverted nares, Abnormality of the ureter, Round ear, Short nose, Hydronephrosis |
ORPHA:1450 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Acute pancreatitis, Depressed nasal bridge, Elevated circulating creatine kinase co... |
ORPHA:26791 |
Nabais Sa-De Vries Syndrome, Type 2 |
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Multicystic kidney dysplasia, Failure to thrive in infancy, Posteriorly rotated ears, Sparse eyeb... |
OMIM:618829 |
Nail-Patella-Like Renal Disease |
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Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Primary Membranoproliferative Glomerulonephritis |
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Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
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Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Low-set ea... |
OMIM:618494 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
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Hearing abnormality, Multicystic kidney dysplasia, Protruding ear |
ORPHA:3270 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Polycystic kidney dysplasia, Nail dysplasia... |
OMIM:614091 |
Trichohepatoenteric Syndrome 2 |
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Hepatomegaly, Villous atrophy, Brittle hair, Woolly hair, Chronic hepatitis, Colitis, Uncombable ... |
OMIM:614602 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
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Amyotrophic lateral sclerosis |
OMIM:619141 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Campomelia, Cumming Type |
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Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Cenani-Lenz Syndactyly Syndrome |
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Anonychia, Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Spinal Muscular Atrophy, Type Ii |
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Degeneration of anterior horn cells |
OMIM:253550 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Depressed nasal bridge, Anteverted nares, Large for gestational age, Umbilical hernia, Nephroblas... |
OMIM:618272 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Abnormality of the urina... |
ORPHA:158684 |
Immunodeficiency 16 |
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Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
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Severe B lymphocytopenia, Hepatic fibrosis, Intrauterine growth retardation, Decreased circulatin... |
OMIM:620005 |
Conductive Deafness-Malformed External Ear Syndrome |
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Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
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Amyotrophic lateral sclerosis |
OMIM:617921 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
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Small for gestational age, Abnormal medullary pyramid morphology |
ORPHA:79243 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Atypical Hemolytic Uremic Syndrome |
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Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Khan-Khan-Katsanis Syndrome |
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Ureteral duplication, Lymphopenia, Patent ductus arteriosus after premature birth, Highly arched ... |
OMIM:618460 |
Microphthalmia, Syndromic 9 |
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Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Patent ductus arteriosus,... |
OMIM:601186 |
Immunodeficiency 36 With Lymphoproliferation |
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Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat... |
OMIM:616005 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears,... |
OMIM:208085 |
Cystinuria |
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Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Fanconi Anemia, Complementation Group W |
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Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni... |
OMIM:617784 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis, Axonal loss |
OMIM:300857 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... |
OMIM:604484 |
Agammaglobulinemia 4, Autosomal Recessive |
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Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing e... |
OMIM:613502 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Oculocerebral Syndrome With Hypopigmentation |
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Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Mandibulofacial Dysostosis With Alopecia |
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Alopecia, Hydroureter, Sparse eyelashes, Cupped ear, Wide nasal bridge, Protruding ear, Microtia,... |
OMIM:616367 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Short nose, Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair |
ORPHA:1355 |
Pauci-Immune Glomerulonephritis |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Lactose Intolerance, Adult Type |
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Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Combined Immunodeficiency, X-Linked |
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Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Reticuloendotheliosis, X-Linked |
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Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
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Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Igg4-Related Kidney Disease |
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Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:613954 |
Renal Tubular Dysgenesis |
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Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Complement Factor H Deficiency |
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Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Distal Limb Deficiencies-Micrognathia Syndrome |
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Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Cryptorchidism, Sensorineura... |
ORPHA:1307 |
Kaposiform Lymphangiomatosis |
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Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... |
ORPHA:464329 |
Dent Disease |
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Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Renal And Mullerian Duct Hypoplasia |
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Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Short... |
OMIM:266810 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased circulating IgG level, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproli... |
ORPHA:276 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Depressed nasal bridge, Nephroblastomatosis, Depressed nasal ridge, Horseshoe k... |
OMIM:608022 |
Hyperparathyroidism, Transient Neonatal |
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Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Unilateral renal agenesis, Patent ... |
OMIM:618188 |
Senior-Boichis Syndrome |
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Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Caroli Disease |
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Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Bare Lymphocyte Syndrome, Type Ii |
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Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... |
OMIM:209920 |
Autoimmune Lymphoproliferative Syndrome |
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Non-Hodgkin lymphoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increase... |
ORPHA:3261 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesi... |
ORPHA:567 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiation, Cafe-au-l... |
OMIM:618541 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hyp... |
OMIM:615415 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Hearing impairment |
OMIM:616239 |
Wiskott-Aldrich Syndrome 2 |
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Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Ectopic kidney |
OMIM:239800 |
Congenital Disorder Of Glycosylation, Type Iig |
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Conductive hearing impairment, Hypospadias, Anteverted nares, Short stature, Rhizomelia, Hemolyti... |
OMIM:611209 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Low-set, posteriorly rotated ears, Abnormal hair pattern, Renal hypoplasia/aplasia, Abnormality o... |
ORPHA:1770 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Depressed nasal ridge, Abnormal intrahepatic bile duct morpholo... |
ORPHA:731 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, S... |
ORPHA:79259 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly |
OMIM:269840 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Tyrosinemia, Type I |
|
Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Anemia, Hyperty... |
OMIM:276700 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Wide nasal bridge, Bilateral renal agenesis, Low-set ears |
OMIM:616258 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia,... |
ORPHA:79312 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Glue ear, Absence of renal corticomedullary differentiation, Renal hypoplasia, Low-set ears, Recu... |
OMIM:619758 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Hemolytic-uremic syn... |
OMIM:619644 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Atelis Syndrome 1 |
|
Glue ear, Decreased lymphocyte proliferation in response to anti-CD3, Thrombocytopenia, Leukopeni... |
OMIM:620184 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Anteverted nares, Prominent nose, Sensorineural hearing impairmen... |
OMIM:154230 |
Netherton Syndrome |
|
Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Sparse eyebrow, Increased c... |
OMIM:256500 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Short stature, Microtia, High palate, Conductive hearing impairment |
OMIM:248910 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Pulsatile tinnitus, Elevated urinary norepinephrine l... |
ORPHA:29072 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Cryptorchidism, Patent ductus arte... |
OMIM:609029 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Renpenning Syndrome |
|
Decreased testicular size, Severe short stature, Hypospadias, Cachexia, Prominent nose, Sensorine... |
ORPHA:3242 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Hypoplastic toenails, Patent ductus arteriosus, Wide nasal bridge, Pro... |
OMIM:606232 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Abnormality of the testis si... |
ORPHA:400 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... |
ORPHA:398063 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Microtia, Congenital pyloric atresia |
OMIM:612138 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Absent brainstem auditory responses, Proteinuria, Hypermelanot... |
ORPHA:90321 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Posteriorly rotated ears, Hearing impairment, Ectopic kidney, Patent ductus ar... |
OMIM:613309 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Obesity, Hypoplasia of the ear cart... |
ORPHA:1035 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Sensorineural hearing impairment, Euthyroid goiter, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, Splenomegaly, Congest... |
ORPHA:108 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Sensorineural hearing impairment, Sta... |
OMIM:613159 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Hepatic fibrosis, Polysplenia, Low-... |
OMIM:200995 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Abnormality of the middle ear ossicles, Renal hypoplasia/aplasia, Co... |
ORPHA:2549 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism... |
ORPHA:1926 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Delayed puberty, Lipemia retinalis, Nep... |
OMIM:232200 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Convex nasal ridge, Short stature, Leukocytosis, Optic... |
OMIM:619321 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... |
ORPHA:54057 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Wide nasal bridge, Depressed nasal tip, Growth delay... |
OMIM:614083 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Highly arched eyebrow, Prominent crus of helix, Bilateral renal hypoplasia, Wid... |
OMIM:619695 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Hypopigmentation of the skin, Short stature, Neutropenia |
OMIM:610798 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Paronychia, Increased circulating IgE level, Otitis externa, Onychog... |
OMIM:614328 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphaden... |
OMIM:240500 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, Decreased circulati... |
ORPHA:397596 |
Majeed Syndrome |
|
Glomerulopathy, Failure to thrive, Hepatomegaly, Proteinuria, Cachexia, Congenital hypoplastic an... |
ORPHA:77297 |
Retinitis Pigmentosa 59 |
|
Renal insufficiency, Cryptorchidism, Sensorineural hearing impairment, Micropenis, Failure to thrive |
OMIM:613861 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Sens... |
ORPHA:2377 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Testicular seminoma |
ORPHA:281090 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Chorioretinal coloboma, Hepatic steatosis, Tubulointerstitial... |
OMIM:243910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Degeneration of anterior horn cells, Hypoplasia of the ventral pons, Cere... |
OMIM:607596 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypoplasia of penis, Hypospadias, Short stature, Depressed nasal ridge, Nephrolithiasis, Delayed ... |
ORPHA:1816 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... |
ORPHA:2290 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Abnormal hair pattern, Synophrys, Low pos... |
ORPHA:2983 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Abnormality of T cell physiology, Unila... |
ORPHA:2237 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Microtia, Micropenis, Failure to thrive, Decreased body mass in... |
ORPHA:370079 |
Malaria |
|
Anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:673 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Short stature, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Congenital sensorineural hearing impa... |
OMIM:617872 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Sensorineural hearing impairment |
ORPHA:225 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cupped ear, Renal hypoplasia |
OMIM:618914 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Decreased lymphocyte proliferation in response to ... |
OMIM:618986 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Sparse lower eyelashes, Unilateral renal agenesis, Microtia, A... |
ORPHA:245 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pan... |
OMIM:130650 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Renal cyst, Microphallus, Vesicoureteral reflux, Anteverted nares, Depressed nasal... |
OMIM:618454 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Failure to thrive, Anemia |
ORPHA:28 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells |
OMIM:253400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammonemia, Renal tubular... |
ORPHA:289916 |
Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Abnormality of skin pigmentation, L... |
OMIM:619488 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Hypoalbum... |
ORPHA:37042 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Epidermal Nevus Syndrome |
|
Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin |
ORPHA:35125 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Albinism, Leukopenia, T lymphocytopenia, Abno... |
OMIM:242840 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Hearing impairment, Cryptorchidism, Patent ductus arteriosus, Macrotia... |
ORPHA:96170 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Abnormal renal corticomedullary differentiation, Thrombocytopenia |
OMIM:617397 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Ureteral agen... |
OMIM:617666 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hepatomegaly, Short stature, Abnormality of neutrophils, Abnormal ey... |
ORPHA:381 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia |
OMIM:245900 |
Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, Small earlobe, Renal hyp... |
OMIM:181270 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Anteverted nares, Uplifted earlobe, Broad nasal tip, Renal cortical cysts, Vesicoureteral reflux |
OMIM:618548 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... |
OMIM:617294 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Highly arched eyebrow, Synophry... |
OMIM:618161 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Hypospadias, Decreased response to growth hormone stimulation test, Posteriorly rotated ears, Lon... |
OMIM:618336 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
Genitopalatocardiac Syndrome |
|
Low-set ears, Hypospadias, Renal cyst |
OMIM:231060 |
Chromosome 17Q12 Deletion Syndrome |
|
Renal cyst, Protruding ear, Multicystic kidney dysplasia, Highly arched eyebrow, Sparse eyebrow, ... |
OMIM:614527 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Increas... |
OMIM:618048 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia |
ORPHA:375 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Cryptorchidism, Protruding ear, Multiple renal cysts, Vesicoureteral re... |
ORPHA:1166 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... |
ORPHA:37748 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Tarp Syndrome |
|
Posteriorly rotated ears, Wide nasal bridge, Horseshoe kidney, Prominent antihelix, Microtia, Low... |
OMIM:311900 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
Marden-Walker Syndrome |
|
Hypospadias, Cryptorchidism, Renal hypoplasia, Low-set ears, Micropenis |
OMIM:248700 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Renal cyst, Otitis media, Vesicoureteral reflux, Conductive hearing impairment, H... |
OMIM:122470 |
Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Prominent nasal bridge, Bilateral renal hypoplasia, Wid... |
OMIM:243605 |
Ogden Syndrome |
|
Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Protruding ear, Iron def... |
OMIM:300855 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Low-set ears, Nephronophthisis, Failure to thrive |
OMIM:608091 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Short stature, Elevated circulating C-reactive protein concentration, Leukoc... |
OMIM:191900 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Abnormal pinna morphology, Sensorineural hearing impai... |
DECIPHER:81 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... |
OMIM:613101 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Increased proportion of gamma-delta T cells, Decreased circulating ... |
OMIM:619774 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Cardiomegaly, Vesicoureteral reflux, Nephropathy... |
ORPHA:116 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc... |
ORPHA:567546 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:605258 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis |
OMIM:613390 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Long nose, Multiple small medullary renal cysts, Macrotia, Stage 5 ... |
OMIM:118450 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Tetraploidy |
|
Hypoplasia of the ear cartilage, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... |
OMIM:608184 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypert... |
OMIM:617913 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria |
ORPHA:79238 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arterio... |
ORPHA:2123 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Failure to thrive, Multiple renal cysts, Renal cyst |
OMIM:614883 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Elevated circulating creatinine concentration, Chorioretinal colobo... |
OMIM:619111 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Hypospadias, Failure t... |
ORPHA:813 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, High palate, Nail dysplasia, Small nail, Macrotia, Bifid uvula |
OMIM:601110 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Distal Deletion 12Q |
|
Failure to thrive in infancy, Unilateral cryptorchidism, Ectopic kidney, Prominent ear helix, Pit... |
ORPHA:96149 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Micro... |
OMIM:619377 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis, Cardiomyopathy, Growth delay, ... |
ORPHA:445038 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Premature graying of hair, Adult onset sensorineural hearing i... |
ORPHA:90324 |
Andersen-Tawil Syndrome |
|
Prominent U wave, Abnormal T-wave, Prolonged QTc interval, Polymorphic and polytopic ventricular ... |
ORPHA:37553 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Anteverted nares, Increased serum beta-hexosaminidase, Depres... |
OMIM:252500 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Villous atrophy, Proteinuria, Macrotia, Renal cyst, Nephrotic syndrome, Proximal tu... |
OMIM:212065 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight |
ORPHA:890 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... |
OMIM:301078 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Melas |
|
Hypoparathyroidism, Proteinuria, Sensorineural hearing impairment, Vitiligo, Focal segmental glom... |
ORPHA:550 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Cryptorchidism, Sensorineural hearing impairment, High anterior hairline, Wide nasal... |
OMIM:615546 |
Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Patchy alopecia, Microtia, Poliosis |
OMIM:141300 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Multicystic kidney dysplasia, Posteriorly rotated ears, Wide nasal bridge, Sparse hai... |
OMIM:619980 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Short statu... |
ORPHA:110 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammon... |
ORPHA:27 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Weight loss, Keratoconjunctivitis ... |
ORPHA:79128 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Sensorineural hearing impa... |
ORPHA:2668 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Anteverted nares, Depressed nasal bridge, Postnatal growth retardati... |
OMIM:301040 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Renal hypoplasia, Incomplete partition o... |
OMIM:617660 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Anteverted nares, Posteriorly rotated ears, Cryptorchidism, Ab... |
ORPHA:2849 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Pierpont Syndrome |
|
Wide nose, Short stature, Posteriorly rotated ears, Broad nasal tip, Cryptorchidism, Large fleshy... |
OMIM:602342 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Short stature,... |
ORPHA:2031 |
Hajdu-Cheney Syndrome |
|
Thick eyebrow, Hypospadias, Short nail, Cryptorchidism, Patent ductus arteriosus, Synophrys, Rena... |
OMIM:102500 |
Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Hepatomegaly, Retina... |
ORPHA:191 |
Say Syndrome |
|
Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Broad nasal tip, Obesity, Enuresis, Short nose |
OMIM:613670 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency |
OMIM:620235 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in... |
OMIM:619313 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Posteriorly rotated ears, Abnormal pinna morphology, Splenomegaly, Patent ductus ar... |
OMIM:269860 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambi... |
OMIM:249000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Failure to thrive, Sparse scalp hair, Posteriorly rotated ears, Fair hair, ... |
OMIM:266920 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the m... |
ORPHA:107 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... |
ORPHA:89838 |
Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair |
OMIM:614099 |
Microsporidiosis |
|
Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphadenitis, Abno... |
ORPHA:2552 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Pancreatic... |
ORPHA:2869 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
Coxoauricular Syndrome |
|
Microtia, Short stature, Hearing impairment |
OMIM:122780 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Functio... |
ORPHA:391487 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Renal insufficiency, Proteinuria, Sparse eyelashes, Sparse eyebrow, Fine hair,... |
OMIM:614748 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Sensorineural hearing impairment, Wide nasal bridge, T lymphocytopenia, B lymphocytopenia, Low-se... |
OMIM:615966 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation, E... |
OMIM:620366 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Decreased body weight, Hypospadias, Hypergonado... |
OMIM:617053 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Renal hypoplasia/aplasia, Wide nasal bridge, Abnormal antihelix morphology, Large earlo... |
ORPHA:1438 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepat... |
OMIM:270400 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608627 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Wide nose, Hypospadias, Nephroblastoma, Small for ge... |
OMIM:257300 |
Ohdo Syndrome |
|
Proteinuria, Sparse eyebrow, Cryptorchidism, Wide nasal bridge, Stenosis of the external auditory... |
OMIM:249620 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Meg... |
OMIM:277380 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Penile freckling, Large for gestational age, Splenomegaly, ... |
OMIM:605309 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... |
ORPHA:90301 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Sensorineural hearing impairment, Wide nasal bridge, Renal hypoplasia, Microtia, Atr... |
OMIM:601390 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Joubert Syndrome 39 |
|
Overweight, Polycystic kidney dysplasia |
OMIM:619562 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia |
OMIM:618093 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Wide nasal bridge, Renal hypoplasia, Microtia, Conductive hearing impairment |
ORPHA:314679 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... |
OMIM:613179 |
Leprechaunism |
|
Protruding ear, Nephrocalcinosis, Increased circulating renin level, Hepatomegaly, Enlarged ovari... |
ORPHA:508 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... |
OMIM:608106 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Neutropenia, Elevate... |
ORPHA:124 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Wilson-Turner Syndrome |
|
Short stature, Uplifted earlobe, Cryptorchidism, Microtia, Thick eyebrow |
ORPHA:3459 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Growth delay, Microtia, Intestinal lymp... |
OMIM:616006 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Neurogenic bladder, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:615911 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Failure to thrive, Hypospadias, Short stature, Underdeveloped nasal alae, Ab... |
ORPHA:2315 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Decreased circulating IgG2 level, Sensorineur... |
ORPHA:1493 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Microtia, Hypoplasti... |
ORPHA:2438 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Congenital Myopathy 17 |
|
Failure to thrive in infancy, Renal hypoplasia, Low-set ears, Ureteropelvic junction obstruction,... |
OMIM:618975 |
Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Depressed nasal bridge, Cryptorchidism, Decreased circulating antibody level, Agamma... |
OMIM:616910 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hematuria, Focal segmental glomeruloscleros... |
OMIM:232240 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Renal ... |
ORPHA:3138 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Short stature, Underdeveloped nasal alae, Cryptorchidism, Rod-cone dystrophy, Macrotia, Renal cys... |
ORPHA:166035 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Retinal astrocytic hamartoma, Retinal hamartoma, ... |
ORPHA:805 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Trichodiscoma, Renal cyst, Renal cell carcinoma, Sebaceous hyperplasia |
OMIM:135150 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Increased... |
ORPHA:83313 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Long nose, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kidney, T l... |
ORPHA:508533 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Anemia |
ORPHA:510 |
Paganini-Miozzo Syndrome |
|
Microtia, Posteriorly rotated ears, Urinary incontinence, Low-set ears |
OMIM:301025 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Sensorineural hearing impairmen... |
ORPHA:182050 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Humeroradial Synostosis |
|
Microtia, Renal insufficiency, Small earlobe, Wide nasal bridge |
OMIM:236400 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Mixed hearing impairment, Short stature, Posteriorly rotated ears, Sparse eyeb... |
OMIM:606164 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Sparse eyelashes, Cleft palate, Persistence of hemo... |
OMIM:300946 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Anteverted nares, Mitral regurgitation, Hepatic... |
OMIM:619879 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ... |
OMIM:137940 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Horseshoe... |
OMIM:608978 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Wide nasal bridge, Cachexia |
ORPHA:2774 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Short stature, Aplasia/Hypoplasia of the uvula, ... |
ORPHA:1597 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Absent tragus, Overfolded helix, Cleft palate, Abnormal antihelix morphology, Larg... |
ORPHA:79113 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... |
OMIM:618495 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia, Gastroesophageal reflux |
OMIM:618158 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Mcdonough Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Cachexia, Underdeveloped nasal alae, Prominent ... |
ORPHA:2471 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... |
ORPHA:71526 |
Roberts Syndrome |
|
Clitoral hypertrophy, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Ex... |
ORPHA:3103 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polyuria, Macular atrophy, Anos... |
OMIM:615994 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cachexia, Wide nasal bridge, Intrauterine growth retardation |
ORPHA:2576 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Posteriorly rotated ears, Cryptorchidism, Renal hypoplasia, Low-set ears, Micropenis |
OMIM:264480 |
Alg9-Cdg |
|
Large fleshy ears, Low-set, posteriorly rotated ears, Hepatomegaly, Tricuspid regurgitation, Depr... |
ORPHA:79328 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Jaundice... |
ORPHA:549 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormal fingernail morphology, Abnorma... |
ORPHA:2036 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Hypospadias, Aplasia/Hypoplasia of the earlobes, Wide nasal br... |
ORPHA:1642 |
Orofaciodigital Syndrome I |
|
Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Wide nasal bridge, Ovarian cyst, Polycystic ki... |
OMIM:311200 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Sensorineural hearing impairment, Renal hypoplasia, Horseshoe ... |
OMIM:607323 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Larg... |
ORPHA:500095 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Abnormal chorioretinal morphology, Depre... |
ORPHA:912 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Cleft palate, Ectopic anus, Microtia, Delayed p... |
ORPHA:2994 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Decreased response to growth hormone stimulation test, Depressed nasa... |
OMIM:614732 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Primary hyperparathyroidism, Hypercalciuria, Nephrocalcin... |
ORPHA:99879 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Short stature, Choanal at... |
ORPHA:3380 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Posteriorly rotated ears, Prominent nasal bridge, Underdevelo... |
ORPHA:2083 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Cachexia, Supernumerary nipple, Underdeveloped nasal alae, Cryptorchi... |
ORPHA:217346 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Thrombocytopenia |
ORPHA:721 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Microtia, Frontal upsweep of hair, Micropenis, Hydronephrosis |
OMIM:617798 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Sensorineural hearin... |
ORPHA:1933 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Neuroge... |
ORPHA:276244 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Portal hypertension, Cholangitis, Pancreatic cysts, Hepatic cysts, A... |
ORPHA:284 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cryptorchidism, Microtia, Multiple bladder diverticula, Recurrent otitis media, Abno... |
ORPHA:2728 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Urinary incontinence, Decreased nerve conduction velocity, Axonal... |
OMIM:604320 |
Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Retinal pigment epithelial mottling, Sensorineural hearing impairment, ... |
OMIM:618733 |
Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Microtia, Low-set ears, Small nail, Sparse... |
OMIM:619314 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Vertigo, Elevated urinary dopamine level, Elevated circula... |
ORPHA:230 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Overhanging nasal tip, Hypospadias, Choanal atresia, Short stature, Underdeve... |
ORPHA:163979 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria |
OMIM:603592 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Short stature, Jaundice, Chronic kidney disease,... |
ORPHA:1667 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirt... |
OMIM:616300 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Hepatomegaly, Malabsorp... |
OMIM:557000 |
Pelvis-Shoulder Dysplasia |
|
Microtia, Abnormal pinna morphology, Hydronephrosis, Facial hirsutism |
ORPHA:2839 |
Dermotrichic Syndrome |
|
Depressed nasal bridge, Proportionate short stature, Hypohidrosis, Aminoaciduria, Short nose, Mac... |
ORPHA:99688 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm... |
ORPHA:552 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Melanocytic nevus... |
ORPHA:2874 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Mildly elevated creatine kinase |
ORPHA:600 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Protruding ear, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Decreased circulatin... |
ORPHA:221139 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Small nail, Hepatic cysts, Renal cyst |
OMIM:263630 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Mildly elevated crea... |
ORPHA:1145 |
Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Abnormality of ski... |
ORPHA:744 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Hypermelanotic macule, Autoimmune thrombocytopenia, Raynaud phenomenon, Hypopigmen... |
OMIM:607944 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Hearing impairment, Optic atrop... |
OMIM:610965 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy... |
OMIM:618719 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Hypertension, Weight loss, Neo... |
ORPHA:69077 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Posteriorly rotated ears, Abnormality of the ureter, Aplasia of th... |
OMIM:200980 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... |
OMIM:616084 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Cryptorchidism, Patent ductus arteriosus, Sensorineural hea... |
ORPHA:3378 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Cryptorchidism, Wide nasal bridge, Depressed nasal tip, Sex reversal,... |
OMIM:612651 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Attached earlobe, Low-set, posteriorly rotated ears, Short stature, Highly arched eyebrow, Synoph... |
ORPHA:1327 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Elevated circulating creatinine concentra... |
OMIM:608104 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormality of the lymphatic system, Hydrocele testis, Microtia, Neph... |
ORPHA:276280 |
Kinsship Syndrome |
|
Synophrys, Renal hypoplasia, Horseshoe kidney, Low-set ears, Failure to thrive, Hypertrichosis |
OMIM:619297 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Pigmentary retinopathy,... |
ORPHA:411527 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail ... |
ORPHA:2930 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Orthostatic hypotension, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells |
OMIM:271150 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
Prolidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Hyperimidodipeptiduria, Splenomegaly, Diffuse telangiectasi... |
OMIM:170100 |
Schilbach-Rott Syndrome |
|
Long nose, Microtia, Hypospadias, Posteriorly rotated ears |
OMIM:164220 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Cerebral atrop... |
ORPHA:1320 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... |
ORPHA:79397 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Hypopigmented skin patches, Ridged fingernail, Protruding ear, Fi... |
ORPHA:2251 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Tachycardia, Abnormal circulating porphyrin concentration, Chro... |
ORPHA:79473 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
17P13.3 Microduplication Syndrome |
|
Low-set ears, Wide nose, Hypoplasia of penis, Short nose |
ORPHA:217385 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Long nose, Cryptorchidism, Hypopigmented skin patches,... |
ORPHA:2115 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hypoplastic fingernail, Renal agenesis, Hypopl... |
OMIM:220500 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Wide nose, Anteverted nares, Short stature, Abnormal pinna morphology,... |
ORPHA:96061 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Microtia |
ORPHA:3301 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Miller-Dieker Syndrome |
|
Growth delay, Nephropathy, Short nose, Anteverted nares |
ORPHA:531 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ... |
OMIM:185070 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Ante... |
ORPHA:2510 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nares, Prominent nasa... |
ORPHA:1454 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of... |
ORPHA:1606 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syn... |
ORPHA:93552 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, Widow's peak,... |
OMIM:617746 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Non-Distal Duplication 10Q |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Short stature, Cryptorchidism, Abnorma... |
ORPHA:1695 |
Chylomicron Retention Disease |
|
Growth delay, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Bloom Syndrome |
|
Paronychia, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulating IgG leve... |
ORPHA:125 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent ductus arteriosus, Synophrys, Nail pits, Large earlobe, Microtia, Long eyelashes, Low-set ... |
OMIM:618076 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur... |
ORPHA:411536 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy |
ORPHA:545 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur... |
OMIM:615398 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Floating-Harbor Syndrome |
|
Long nose, Renal cyst, Nephrocalcinosis, Conductive hearing impairment, Hypospadias, Short statur... |
ORPHA:2044 |
Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Anteverted nares, Splenomegaly, Jaundice, Patent ductus arteri... |
OMIM:251290 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Intellectual Disability-Strabismus Syndrome |
|
Failure to thrive, Hypospadias, Decreased response to growth hormone stimulation test, Narrow nas... |
ORPHA:363528 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ... |
ORPHA:158029 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Hepatitis, Ly... |
OMIM:619381 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Congenital sensorineura... |
OMIM:619147 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Short stature, Abnormality of the tonsils, Malab... |
ORPHA:47 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... |
ORPHA:91139 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Conductive hearing impairment, ... |
ORPHA:2316 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi... |
OMIM:604292 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Vira... |
ORPHA:91138 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Long penis, Wide nasal b... |
OMIM:268300 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... |
OMIM:617241 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short stature, Cachexia, Prominent nose, Obesity, Abnormal earlobe morpholog... |
ORPHA:85293 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... |
ORPHA:3162 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... |
ORPHA:261222 |
Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Patent ductus arteriosus, Wide nasal bridge, Nephrocalcinosis, Neutropenia, Intrau... |
OMIM:618005 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Low-set, posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Crypt... |
ORPHA:363659 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Cupped ear, Overfolded helix, Microtia, Vesicoureteral reflux, Crossed fused renal e... |
OMIM:617466 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... |
ORPHA:447 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
Lcat Deficiency |
|
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ... |
ORPHA:650 |
Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
14Q22Q23 Microdeletion Syndrome |
|
Posteriorly rotated ears, Anterior pituitary hypoplasia, Cryptorchidism, Cupped ear, Renal hypopl... |
ORPHA:264200 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Abnormal renal tubule morphology |
ORPHA:188 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchidism, Patent ductus arte... |
OMIM:243310 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Delayed puberty, Short nose, Failure to thrive, Abnormality of the outer ear |
ORPHA:217340 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Anteverted nares, Depress... |
ORPHA:819 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Elevated circulating... |
ORPHA:36234 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency |
ORPHA:526 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Hypoplastic toenails, Anotia, Microtia, Atresia of the external auditory canal, H... |
ORPHA:268249 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Short stature, Posteriorly rotated ears, Cleft palate, Microtia, Long eyelashes, Low-set ears, Bi... |
OMIM:618089 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Cafe-au-lait spot, Low-set ears, ... |
OMIM:250410 |
Zechi-Ceide Syndrome |
|
Thick hair, Abnormal earlobe morphology, Cleft palate, Microtia, Small nail, Low-set ears, Conduc... |
ORPHA:217017 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... |
ORPHA:79477 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hypoplastic fingernail, Hydroureter, Hyperpigmented/hypopigmented macules, Patent ductus arterios... |
ORPHA:280633 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sho... |
OMIM:251260 |
Ring Chromosome 12 Syndrome |
|
Small for gestational age, Cryptorchidism, Glandular hypospadias, Dystrophic toenail, Microtia, L... |
ORPHA:1439 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu... |
OMIM:618886 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Sensorineural heari... |
ORPHA:36412 |
Ohdo Syndrome, X-Linked |
|
Posteriorly rotated ears, Sparse eyebrow, Cryptorchidism, High anterior hairline, Wide nasal brid... |
OMIM:300895 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Vertigo... |
ORPHA:358 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Hepatomegaly, Absent platelet dense granules, Posteriorly rotated... |
OMIM:608233 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Potocki-Shaffer Syndrome |
|
Micropenis, Wide nasal bridge, Short nose, Underdeveloped nasal alae |
OMIM:601224 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Prominent inferior crus of antihelix, Protruding ear, Low-set ears, Overfolded helix, ... |
OMIM:618332 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating total IgM, Decreased c... |
OMIM:620210 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Prominent nasal bridge, Thickened helices, Bulbou... |
OMIM:618828 |
Short Stature And Facioauriculothoracic Malformations |
|
Proportionate short stature, Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overf... |
OMIM:609654 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Sensorineural hearing im... |
ORPHA:298 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Anteverted nares, Failure to thrive in infancy, Cachexia, Prominent nose, Prominent nasal bridge,... |
OMIM:616801 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Pyelonephritis, Recu... |
OMIM:610984 |
Fraser Syndrome 1 |
|
Cleft ala nasi, Abnormal thymus morphology, Choanal stenosis, Conductive hearing impairment, Micr... |
OMIM:219000 |
Chops Syndrome |
|
Anteverted nares, Short stature, Thickened helices, Splenomegaly, Cryptorchidism, Patent ductus a... |
OMIM:616368 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Prominent nasal bri... |
OMIM:618885 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Impaired platelet aggregation, ... |
OMIM:614072 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Heart block, Splenomegaly, Sensorineura... |
ORPHA:773 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence, Abno... |
OMIM:205100 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Increased level of hippuric acid in urine, Elevated urinary pheny... |
OMIM:261600 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Wide nose, Short stature, Elevated circulating creatine kinase ... |
OMIM:608779 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Prominent nose, Cryptorchidism, Disproportionate short stature, Renal hypoplasi... |
OMIM:210710 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Anteverted nares, Decreased response to growth hormone stimul... |
OMIM:615873 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairment, Chronic kidney disease, D... |
OMIM:616580 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Sensorineural hearing impairment, Wide n... |
ORPHA:1825 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Patent ductus arteriosus, Myelomeningocele,... |
OMIM:306955 |
Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... |
OMIM:103500 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Sparse eyebrow, Cryptorchidism, Protruding ear, Fetal megacystis, L... |
ORPHA:73246 |
Fg Syndrome Type 1 |
|
Hypospadias, Short stature, Abnormal large intestine morphology, Malrotation of colon, Pyloric st... |
ORPHA:93932 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ... |
OMIM:614576 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Short stature, Cryptorchidism, Splenomegaly, Low anterior hairline,... |
OMIM:618440 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Brittle hair, Short stature, Increased circulating IgA level, Bilateral cryptorchidi... |
OMIM:616395 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Chorioretinal colo... |
ORPHA:857 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thick eyebrow, Highly arched eyebrow, Cupped ear, Protruding ear, Low posterior hairline, Microti... |
OMIM:156200 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Spina bifida, Asplenia, Cryptorchidism, Bulbous nose, Paten... |
ORPHA:99776 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ... |
OMIM:612541 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Hepatic steatosis, Viral hepatitis, Hepatocellular ... |
ORPHA:101330 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... |
ORPHA:3027 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Renal insufficiency, Hepatomegaly, Epistaxis, Abn... |
ORPHA:33226 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Postnatal growth retardation, Cryptorchidism, Splenomegaly, Pancreatic lymphangiect... |
ORPHA:1655 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Splenomegaly, Primary adrenal insufficiency, Renal cyst, Ch... |
OMIM:261515 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Cond... |
OMIM:129900 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Cardiac arrest, Myocarditis, Hepatitis, Thyroiditis, Lymphaden... |
ORPHA:139402 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Adrenal insufficiency... |
ORPHA:75233 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Hypospadias, Short stature, Cryptorchidism, Sensorineural hear... |
OMIM:617063 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m... |
ORPHA:1297 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,... |
ORPHA:320 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland, Abnormal localization of kidney, Cleft pala... |
ORPHA:3429 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytopenia, Persistenc... |
OMIM:105650 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Wide nasal bridge, Short nose |
ORPHA:401935 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... |
ORPHA:543 |
Slc35A2-Cdg |
|
Increased circulating thyroglobulin level, Failure to thrive in infancy, Short stature, Precociou... |
ORPHA:356961 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis, Hearing impairment |
OMIM:235740 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Failure to thrive, Telangiectasia of the skin, Short stature, Polycysti... |
ORPHA:100 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Renal insufficiency, Freckles in sun-exposed areas, Albinism, Ocular al... |
OMIM:203300 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Hypothyroidism, Renal tubul... |
ORPHA:213 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Supernumerary nipple, H... |
ORPHA:261494 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Blue irides, Obesity, Cong... |
OMIM:614613 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Catifa Syndrome |
|
Microtia, Cleft palate |
OMIM:618761 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Cryptorchidism, Sensorineural hearin... |
OMIM:300661 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Retinal dystrophy, Hepatic fibrosis, Polycystic kid... |
OMIM:263520 |
Lamellar Ichthyosis |
|
Renal insufficiency, Sparse hair, Abnormal helix morphology, Chronic otitis media, Abnormality of... |
ORPHA:313 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Sensorineural hearing impairment, Hyperuricosuria, Uric acid n... |
ORPHA:411543 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Codas Syndrome |
|
Hydroureter, Anteverted nares, Depressed nasal bridge, Short stature, Extrahepatic biliary duct a... |
ORPHA:1458 |
Okamoto Syndrome |
|
Anteverted nares, Urinary incontinence, Depressed nasal bridge, Bifid uterus, Underdeveloped nasa... |
ORPHA:2729 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl... |
ORPHA:2911 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Small for gestational age, Anteverted nares, Posteriorly rotated ears, Cardiomegaly,... |
OMIM:616897 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Hypopigmen... |
ORPHA:2715 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... |
ORPHA:567983 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Depressed nasal bridge, Prominent nasal bridge, Ca... |
ORPHA:647 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Cachexia, Hypertension, Progressive hearing impairment, Abnormality of macular... |
ORPHA:97229 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m... |
ORPHA:2075 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm |
ORPHA:172 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran... |
OMIM:308940 |
Meier-Gorlin Syndrome 5 |
|
Cryptorchidism, Micropenis, Microtia, Low-set ears, Small earlobe, Failure to thrive |
OMIM:613805 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pigmentary retinopathy, Vitreous hemorrhage, Re... |
OMIM:193220 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Lymph node hypoplasia, T lym... |
OMIM:300755 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Short nose, Cafe-au-lait spot, Hepatic steatosis |
ORPHA:210548 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Myogl... |
ORPHA:713 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... |
ORPHA:85443 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hype... |
OMIM:251000 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hypospadias, Renal agenesis, Optic nerve hypoplasia, Spina bifida, Short st... |
ORPHA:508498 |
Hennekam-Beemer Syndrome |
|
Wide nose, Generalized hyperpigmentation, Telangiectasia of the skin, Short stature, Long nose, C... |
ORPHA:2135 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test... |
ORPHA:529962 |
Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Posteriorly rotated ears, Bilateral cryptorchidism, Ab... |
OMIM:618156 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Optic atrophy, Leukopenia, Hypogonadism, Urinary retention,... |
ORPHA:1328 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Sensorineural hearing imp... |
ORPHA:18 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Joubert Syndrome 14 |
|
Encephalocele, Posteriorly rotated ears, Prominent nasal bridge, Morning glory anomaly, Meningoce... |
OMIM:614424 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Tachycardia, Penoscrotal hypospadias, Unilateral cryptorchidism,... |
OMIM:618280 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Wide nasal bridge, Nephropathy, Hypertrichosis |
OMIM:247410 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer... |
OMIM:609981 |
Moynahan Syndrome |
|
Sensorineural hearing impairment, Short stature, Hypogonadism, Cachexia |
ORPHA:2574 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Abnormal pinna morphology, Recurrent upper respiratory tract infection... |
ORPHA:3078 |
Hyperprolinemia Type 2 |
|
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S... |
OMIM:301050 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Choanal atresia, Short stature, Posteriorly rotated ears, Crypto... |
OMIM:300712 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Conjunctival hyp... |
ORPHA:99826 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal pinna morphology, Abnormal renal collecting system morphology, Cryptorch... |
OMIM:134780 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Hypospadias, Anteverted nares, Depressed nasal bridge, Prominent nose, Underfold... |
OMIM:618316 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Increased T cell count, Ventricular tachycardia, N... |
ORPHA:797 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Sensorineural hearing impairment |
ORPHA:3222 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Multiple lentigines, Horseshoe kidney, Vitiligo |
ORPHA:101003 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:160 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Microtia |
ORPHA:939 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Proteinuria, Retinal dystrophy, Depressed nasal bridge, Posteriorly rotated e... |
ORPHA:2143 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Premature graying of hair, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hy... |
OMIM:194050 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Sensorineural hearing impairment, Stage 5 chronic kidney disease, Thickened glomerular basement m... |
OMIM:609057 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Posteriorly rotated ears, Low-set ears, Protruding ear |
OMIM:614756 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Renpenning Syndrome 1 |
|
Brittle hair, Hypospadias, Phimosis, Cupped ear, Wide nasal bridge, Renal hypoplasia, Protruding ... |
OMIM:309500 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Abnormality of the bladder |
ORPHA:247604 |
Cousin Syndrome |
|
Posteriorly rotated ears, Low anterior hairline, Low-set ears, Facial hirsutism, Stenosis of the ... |
OMIM:260660 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Generalized hyperpigmentation, Hepatomeg... |
ORPHA:3452 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Central ... |
ORPHA:514 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Posteriorly rotated ears, Splenomegaly, ... |
OMIM:115150 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Anorectal anomaly, Premature graying of hair, Sparse hair... |
ORPHA:1775 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocystinemia, Neutropenia, In... |
ORPHA:79282 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Elevated hemoglobin A1c, Sparse eyebrow, Focal segmental glomerulosclerosis, Nail dy... |
OMIM:619127 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Adenoma seba... |
OMIM:613254 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Cryptorchidism, Fetal pyelectasis,... |
ORPHA:49 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Chorioretinal coloboma, Vesicoureteral reflux, Hypothyroidism, Multicystic kidney ... |
OMIM:107480 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... |
OMIM:612290 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Hereditary Orotic Aciduria |
|
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Impaired T cell function, Splenomega... |
ORPHA:30 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Acitretin/Etretinate Embryopathy |
|
Cupped ear, Microtia, Hypoplasia of the thymus, High palate, Bilateral sensorineural hearing impa... |
ORPHA:40366 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Anemia, Protein-losin... |
OMIM:175500 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hearing impairment, Renal hypoplasia/aplasia, ... |
ORPHA:261265 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Short stature, Micropenis, Anterior hypopituitar... |
OMIM:241800 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Chorioretinal hypopi... |
ORPHA:398079 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Hepatoblastoma, Posterior helix pit, Hepatomegaly, Hypospadias, Anteverted nares, Dep... |
OMIM:312870 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thicke... |
OMIM:146255 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Chronic kidney disease, Imbal... |
ORPHA:330015 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Cryptorchidism, Sen... |
OMIM:300519 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Short stature, Optic atrophy, Low-set ears, Right ventricul... |
OMIM:614261 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasis... |
OMIM:235255 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anteverted nares, Choanal atresia, Promin... |
ORPHA:1716 |
Toluene Embryopathy |
|
Short stature, Cryptorchidism, Abnormal localization of kidney, Protruding ear, Low-set ears, Sho... |
ORPHA:1920 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Renal insufficiency, Bone spicule pigmentation of the retina, Obesity |
OMIM:615986 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Intrauterine growth retardation, Hypoplastic spleen, Low-set ears, Dysphagia |
ORPHA:89844 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Depressed ... |
OMIM:606407 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, Failure to thrive, ... |
OMIM:618999 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophil... |
ORPHA:183 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... |
ORPHA:79233 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Depressed nasal bridge, Hypercalcemia, Precocious puber... |
ORPHA:369837 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge, ... |
OMIM:601539 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overfolded helix, Microtia, Hypospadias, Lop ear |
ORPHA:436003 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Abnormal cerebellum morphology, Amyotrophic lateral sclerosis, Urinary incontinence |
ORPHA:300605 |
Pontocerebellar Hypoplasia, Type 7 |
|
Broad nasal tip, Cryptorchidism, Optic atrophy, Wide nasal bridge, Low-set ears, Ambiguous genita... |
OMIM:614969 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Short stature |
ORPHA:2015 |
Granulomatosis With Polyangiitis |
|
Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, Chronic otit... |
ORPHA:900 |
Scrub Typhus |
|
Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Hypotension |
ORPHA:83317 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Small for gestational age, Depres... |
ORPHA:99843 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense... |
OMIM:214500 |
Distal Deletion 10Q |
|
Failure to thrive, Abnormal morphology of the vestibule of the inner ear, Hypoplastic toenails, C... |
ORPHA:96148 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Highly arched eyebrow,... |
ORPHA:261318 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity |
ORPHA:391 |
19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Posteriorly rotated ears, Cleft palate, Growth delay, Microtia, Gastro... |
ORPHA:447980 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Short stature, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Rhizo-mes... |
ORPHA:163654 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Wide nasal bridge, Nephropathy, Anonychia, Generalized h... |
ORPHA:1563 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Mixed hearing impairment, Cupped ear, Wide nasal bridge, Renal cyst, Low-set ears |
OMIM:615560 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Renal tubular acidosis, Failure to thrive, Chronic kidney disease, 3-Methylglutaconic aciduria |
ORPHA:324525 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... |
ORPHA:79399 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Monosomy 9P |
|
Thick eyebrow, Hypospadias, Thin nail, Highly arched eyebrow, Cryptorchidism, Synophrys, Low post... |
ORPHA:261112 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Choanal atresia, Cryptorchi... |
ORPHA:861 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Fanconi Anemia |
|
Abnormality of skin pigmentation, Leukopenia, Abnormality of the liver, Abnormality of the uterus... |
ORPHA:84 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Overweight, Leukocytosis, Obesity, Lymphopenia, Abnormality of the nail |
ORPHA:247353 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Partial albinism, Epi... |
ORPHA:79430 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Renal salt wastin... |
ORPHA:95409 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Supernumerary nipple, Cupped ear, Cleft palate, Microtia, Cond... |
ORPHA:246 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Alopecia, Absent eyebrow, Short stature, Hepatomegaly, Thrombocytopenia, Spleno... |
OMIM:263700 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Fetal Trimethadione Syndrome |
|
Hypospadias, Depressed nasal bridge, Overfolded helix, Low-set ears, Abnormal helix morphology, A... |
ORPHA:1913 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Short stature, Precocious puberty, Horseshoe kidney, Growth delay, Hypophospha... |
OMIM:163200 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Anteverted nares, Depressed nasal bridge, Short stature, Broa... |
OMIM:617157 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Patent ductus arterio... |
ORPHA:86818 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Thick eyebrow |
OMIM:620047 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short stature, Po... |
OMIM:613320 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Hepatosplenom... |
OMIM:608013 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear |
ORPHA:314647 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... |
OMIM:618935 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Microtia, Congenital pyloric atresia |
OMIM:619817 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, C... |
ORPHA:904 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the kidney, Decreased serum iron, Broad nasal tip, Overweight, Hypothyroidism, Rec... |
ORPHA:391372 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Optic nerve hypoplasia, Supernumerary nipple,... |
ORPHA:261349 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Patent ductus arteriosus, Wide nasal brid... |
OMIM:300373 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Wide nasal bridge, Obesity |
OMIM:618821 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Postnatal... |
OMIM:610198 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Failure to thrive |
OMIM:602361 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Short nose |
ORPHA:833 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Highly arched eyebrow, Cryptorchidism, Synophrys, Obesi... |
ORPHA:96147 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Anteverted nares, Depressed nasal bridge, Short stat... |
ORPHA:2719 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... |
OMIM:267010 |
Candidiasis, Familial, 1 |
|
Alopecia, Cutaneous anergy |
OMIM:114580 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Waardenburg Syndrome, Type 3 |
|
Partial albinism, Aganglionic megacolon, Synophrys, Sensorineural hearing impairment, Blue irides... |
OMIM:148820 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Bilateral cryptorc... |
OMIM:263650 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Anteverted nares, Intrahepatic cholestasis, Bulbous nose, Meni... |
ORPHA:46059 |
X-Linked Intellectual Disability, Van Esch Type |
|
Short stature, Cryptorchidism, Increased circulating gonadotropin level, Retractile testis, Micro... |
ORPHA:163976 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Hearing impairment, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
Meier-Gorlin Syndrome 3 |
|
Hypospadias, Posteriorly rotated ears, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, M... |
OMIM:613803 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Cleft ala nasi, Urethral atresia, Conductive hearing impairme... |
ORPHA:2052 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Neurogenic bladder, Urinary incontinence, ... |
OMIM:263570 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hypospadias, Hypergonadotropic hypogonadism, Supraventricular arrhythmi... |
ORPHA:2959 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, Leukopenia... |
ORPHA:289390 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Cachexia, Short stat... |
ORPHA:371364 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Depressed nasal br... |
ORPHA:3404 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Short stature, Iris hypopigmentation |
ORPHA:177910 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Precocious puberty, Renal cyst, Achromatic retinal patches, Renal... |
OMIM:191100 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Christianson Syndrome |
|
Macrotia, Cachexia, Abnormality of the nose |
ORPHA:85278 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Synophrys, Low anterior ... |
OMIM:616734 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Protruding... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Protruding... |
ORPHA:363958 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenom... |
ORPHA:97289 |
Schwartz-Jampel Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Elevated circulating creatine kinase concentrat... |
ORPHA:800 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Depressed nasal bridge, Wide nose, Cryptorchidism, P... |
ORPHA:261344 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Posteriorly rotated ears, Prominent nasal bridge, Bulbous nose, Patent ductus arteri... |
OMIM:613870 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:143 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Intrauterine growth retardation, Retinal neovascularization, Hearing impairment |
OMIM:619074 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature grayi... |
OMIM:613989 |
Charge Syndrome |
|
Bifid scrotum, Hypoplasia of the semicircular canal, Chorioretinal coloboma, Vesicoureteral reflu... |
ORPHA:138 |
Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:887 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia |
OMIM:246000 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Choanal atresia, Anteverted nares, Myelomeningocele, Optic atrophy, Micro... |
ORPHA:1914 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Depressed nasal bridge, Short stature, Postnatal growth retarda... |
ORPHA:7 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptor... |
ORPHA:96169 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Prominent nasal bridge, Prominent nose, Precocious puberty, Postnatal growth retarda... |
OMIM:210720 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Renal cyst |
OMIM:611561 |
Galloway-Mowat Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypoplasia of the ear cartilage, Nephropathy, Macrotia |
ORPHA:2065 |
Von Hippel-Lindau Disease |
|
Hypertensive retinopathy, Myocardial infarction, Adrenal pheochromocytoma, Papillary cystadenoma ... |
ORPHA:892 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Short stature, C... |
OMIM:208500 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Depressed nasal bridge, Cholangitis, Short stature, Rhizomelia... |
OMIM:613610 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, Small earlobe, Pelvic kidney, Hypospadias, A... |
OMIM:619522 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Homocystinuria, Myocardial infarction, Methioninuria, Hyperhomocystinemia, Hyp... |
OMIM:236200 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Intrauterine growth retardation, Macrotia, Hypopigmentation of the skin, Aplasia/Hyp... |
ORPHA:261304 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Recurrent upper respiratory tract infections, Abnormally low T cell receptor e... |
OMIM:618806 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormality of the upper urinary tract, Highly arched eyebrow, Abnormal h... |
ORPHA:1807 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Proportionate short stature, Hearing impairment... |
ORPHA:488618 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Large for gestational age, Macrotia, Sensorineural hear... |
OMIM:617107 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... |
ORPHA:398069 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Failure to thrive, Hypospadias, Smal... |
ORPHA:464311 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Vertigo, Ly... |
ORPHA:520 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Depressed nasal bridge, Short stature, Wide nasal bridge, Microti... |
ORPHA:261295 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Patent ductus arteriosus, Macrotia, Horseshoe kidney, Abnorm... |
ORPHA:65286 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia... |
ORPHA:440713 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Ante... |
OMIM:229850 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Short stature, Sudden cardiac death, Renal hypoplasi... |
ORPHA:991 |
Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Abscess, Eosinophilia, S... |
OMIM:615816 |
Lacrimoauriculodentodigital Syndrome |
|
Xerostomia, Conductive hearing impairment, Vesicoureteral reflux, Abnormal salivary gland morphol... |
ORPHA:2363 |
Nail-Patella Syndrome |
|
Ridged nail, Renal insufficiency, Proteinuria, Glomerulonephritis, Concave nail, Sensorineural he... |
OMIM:161200 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Short stature, Cachexia |
ORPHA:1144 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Alg12-Cdg |
|
Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hyponatremia, Hypospadias, Partial absence of s... |
ORPHA:79324 |
Cockayne Syndrome A |
|
Prominent nose, Abnormality of skin pigmentation, Micropenis, Hepatomegaly, Retinal atrophy, Shor... |
OMIM:216400 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short stature, Decreased response to growth hormone stimulation test, Posteriorly rotated ears, P... |
OMIM:617260 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Anteverted nares, Elevated circulating creatine kinase concentrat... |
OMIM:619743 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Steatorrhea... |
ORPHA:2070 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Hypopigmented skin patches, Abnormal localization of kidney, Hematuria, Delayed p... |
ORPHA:3121 |
Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Generalized hyperpigmentation, Pericarditis, Th... |
ORPHA:47612 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Anteverted nares, Depressed nasal... |
OMIM:614105 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Synophrys, Microtia, Gastroesophageal reflux, High palate, Hirsutism |
OMIM:616977 |
6Q16 Microdeletion Syndrome |
|
Low-set ears, Microtia, Thick eyebrow, Abnormal ear morphology |
ORPHA:171829 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Pulsatile tinnitus, Hypercalcemia, Cerebral hemorrhage, Elevated urinar... |
ORPHA:94080 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Cachexia |
ORPHA:157973 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Unilateral renal agenesis, Atresia of the external auditory cana... |
OMIM:614900 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplas... |
ORPHA:98849 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Short nose, Hypospadias, Anteverted nares |
OMIM:300581 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo... |
OMIM:611890 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Renal cyst |
OMIM:603194 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Anteverted nares, Optic disc coloboma, Renal cyst, Occipita... |
OMIM:213300 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Anteverted nares, Choanal atresia, Short stature, Posteriorly rotated ears, Cryptorc... |
OMIM:616975 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Retinal detachment, External ear malformation, Cryptorchidism,... |
ORPHA:2953 |
Eec Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Choanal atresia, Renal hypopl... |
ORPHA:1896 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Lathosterolosis |
|
Anteverted nares, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepa... |
OMIM:607330 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Cleft palate, Anotia, Gastroes... |
ORPHA:2306 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Narrow palate, Fine hair, Microtia, Long eyelashes, Gastroesophageal reflux, Macrotia,... |
OMIM:620250 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Severe short stature, Renal agenesis, Depressed nasal bridge, ... |
ORPHA:35107 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, ... |
ORPHA:2282 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pleural lymphangiectasia, Pericardial lymphangiectasia, Mild postnatal growth retardation, Ectopi... |
OMIM:235510 |
Bloom Syndrome |
|
Hepatic steatosis, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Spotty ... |
OMIM:210900 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Micropenis, Pelvic kidney, Hypospadias... |
ORPHA:464306 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anteverted nares, Ureteral hypoplasia, Depressed nasal bri... |
OMIM:614080 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Long nose, Patent ductus arteriosu... |
OMIM:613680 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Hypospadias, Anteverted nares, Short stature, Underdeveloped nasal alae, Postnatal... |
OMIM:613026 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Sensorineural hearing impairment, Optic atr... |
OMIM:615636 |
Trigonocephaly 1 |
|
High, narrow palate, Synophrys, Long penis, Meckel diverticulum |
OMIM:190440 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Low-set ears, Synophrys, Microtia, Hirsutism |
ORPHA:357175 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy... |
ORPHA:85447 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Alopecia, Barr... |
ORPHA:90291 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Renal insufficiency, Renal agenesis, Retinal dystrophy, Short stature, Ecto... |
ORPHA:140952 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Mediastinal lymphadenopathy, ... |
ORPHA:397 |
Immunodeficiency 95 |
|
Recurrent viral upper respiratory tract infections, Lymphopenia, Decreased circulating IgG3 level... |
OMIM:619773 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Vascular Hyalinosis |
|
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Malabsorption |
OMIM:277175 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Oligosacchariduria, Nephrocalcinosis... |
ORPHA:534 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation, Renal cyst |
OMIM:611134 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Microtia, Recurrent upper respiratory tract infections, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Cockayne Syndrome B |
|
Abnormality of skin pigmentation, Micropenis, Hepatomegaly, Cryptorchidism, Renal insufficiency, ... |
OMIM:133540 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... |
OMIM:606353 |
Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Cryptorchidism, Patent ductus arteriosus, Cupped ear, Low-set ears, Vesicour... |
OMIM:617159 |
Alg6-Cdg |
|
Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Low-set ears |
ORPHA:79320 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Breast carcinoma, Abnormal lymp... |
ORPHA:97290 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Thickened helices, Low anterior hairline, Wide nasal bridge, Unilateral renal hypopla... |
OMIM:619950 |
Hemifacial Microsomia With Radial Defects |
|
Conductive hearing impairment, Microtia, Atresia of the external auditory canal, Cleft palate |
OMIM:141400 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Ambiguous ... |
ORPHA:1052 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Abnormal pinna morphology, Posteriorly rot... |
OMIM:135900 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Underdeveloped nasal alae, Biliary hyp... |
ORPHA:83617 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Bilobate gallbladder, Protruding ear, Clitoral hy... |
OMIM:261540 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla... |
ORPHA:99880 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Microtia, High palate, Absent antihelix, Cafe-au-lait spot, Aplasia/Hypoplasia of ... |
ORPHA:293939 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... |
OMIM:615190 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Curly hair, Hypospadias, Cryptorchidism, Hypopigmented skin patches, Cafe-au... |
ORPHA:457485 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Po... |
ORPHA:2169 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Low-set ears, Synophrys, Microtia, Hirsutism |
OMIM:615162 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Depressed nasal bridge, Increased body weight, Spotty hypopigmentation, Horseshoe kidney, Micropenis |
OMIM:300860 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Anteverted nares, Depressed nasal bridge, Short stature, Posteriorly ... |
OMIM:309580 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Vesicoureteral reflux, S... |
ORPHA:508488 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Spinocerebellar atrophy, Abnormal... |
OMIM:215470 |
Gapo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Optic atrophy, Hypopigm... |
ORPHA:2067 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Short stature, Highly arched eyebrow, Cryptorchidism, Aplasia/Hypoplasia of the external ear, Hig... |
ORPHA:505237 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Severe short stature, Abnormal atrioventricular conduction, Proport... |
ORPHA:3208 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentrat... |
ORPHA:99829 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short stature, Esophageal atresia, Cleft palate, Microtia, Atresia of the external auditory canal... |
OMIM:610536 |
Lujo Hemorrhagic Fever |
|
Shock, Lymphopenia, Renal insufficiency, Elevated circulating C-reactive protein concentration, M... |
ORPHA:319213 |
Cranioectodermal Dysplasia 4 |
|
Anteverted nares, Short stature, Stage 5 chronic kidney disease, Protruding ear, Bone marrow hypo... |
OMIM:614378 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear... |
ORPHA:113 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Choanal stenosis, Conductive hearing impairment, Intrauterine growth retardation,... |
OMIM:620186 |
Tetrasomy 12P |
|
Short stature, Anteverted nares, Cachexia, Hypohidrosis, Short nose |
ORPHA:884 |
Hennekam Syndrome |
|
Depressed nasal bridge, Mild postnatal growth retardation, Ectopic kidney, External ear malformat... |
ORPHA:2136 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormal renal tubule morphology, Short stature, Abnormality of neutrophils, Hearing impairment, ... |
ORPHA:2720 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conj... |
ORPHA:293173 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Supernumerary nipple, Und... |
ORPHA:1001 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Highly arched eyebrow, Hearing impairment, Cupped ear, Protruding ear, ... |
OMIM:618619 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Roifman Syndrome |
|
Short stature, Eosinophilia, Hyperconvex nail, Postnatal growth retardation, Prominent eyelashes,... |
ORPHA:353298 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short stature, Postnatal growth retardation, Anemia, Microtia, Recurrent otitis media, Hypoplasti... |
ORPHA:261323 |
14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Patent ductus arteriosus, Melanocytic ... |
ORPHA:261120 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
OMIM:176270 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Splenomegaly, Patent ductus arteriosus, M... |
OMIM:608149 |
Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormal renal morphology... |
ORPHA:1666 |
Branchiooculofacial Syndrome |
|
Renal cyst, Premature graying of hair, Conductive hearing impairment, Ectopic thymus tissue, Hypo... |
OMIM:113620 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Wide nose, Prominent nasal bridge, Short stature, Pr... |
ORPHA:85201 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Abnormal pinna morphology, Macroglossia, High palate, ... |
ORPHA:79321 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Abnormality... |
ORPHA:228123 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Short stature, Rectal fistula, Rectal atre... |
OMIM:115470 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Large for gestational age, Gonadotropin deficiency, Depressed nasa... |
ORPHA:672 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Bile duct proliferation |
OMIM:607361 |
Hartnup Disease |
|
Abnormal urinary color, Short stature, Malabsorption, Hypopigmented skin patches, Irregular hyper... |
ORPHA:2116 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Hypertrophic cardiomyopathy, 3-Methylgluta... |
ORPHA:496790 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... |
ORPHA:90051 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Abscess, Hemolytic-uremic syndrome, Myocarditis, Leuk... |
ORPHA:810 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Hyperhidrosis, Leukopenia, ... |
ORPHA:1304 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Ante... |
OMIM:269150 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Anteverted nares, Depre... |
ORPHA:171929 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Microtia, Cleft palate |
ORPHA:398156 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Optic atrophy, Abnormality of the urinary ... |
ORPHA:702 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst, Low-set ears, Sys... |
OMIM:617478 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop... |
ORPHA:324 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor... |
ORPHA:79404 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Hypospadias, Intestinal malrotation, Short stature, Pyloric stenosis, Cryptorchidi... |
OMIM:305450 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
Recon Progeroid Syndrome |
|
Attached earlobe, Anteverted nares, Prominent nasal bridge, Narrow nasal ridge, Underdeveloped na... |
OMIM:620370 |
Pde4D Haploinsufficiency Syndrome |
|
Hypospadias, Depressed nasal bridge, Hearing impairment, Prominent nose, Postnatal growth retarda... |
ORPHA:439822 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly, Hypopigmented skin patches, Hyperhidrosis, Nephrocalcinosis |
ORPHA:53715 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Low-set ears |
ORPHA:2165 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Hypoplasia of penis, Depressed nasal bridge, Rhizomelia, Cryptorchidism, Ambiguous... |
ORPHA:93328 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Short stature, External ear malformation, Cryptorchidism, Pa... |
ORPHA:251071 |
Saethre-Chotzen Syndrome |
|
Short stature, Abnormal hair pattern, Prominent crus of helix, Cryptorchidism, External ear malfo... |
ORPHA:794 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Avian Influenza |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ... |
ORPHA:454836 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Depressed nasal bridge, Short stature, Posteriorly rotated ears, Postn... |
ORPHA:1272 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Weight loss, Keratoconjunctivitis, Growth delay, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
Bile Acid Malabsorption, Primary, 1 |
|
Growth delay, Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hearing abnormality, Cupped ear, Ocular albinism, Anteriorly placed anus, Microtia, Intrauterine ... |
ORPHA:1352 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Teebi Hypertelorism Syndrome 2 |
|
Hypospadias, Depressed nasal bridge, Broad nasal tip, Short nose, Hearing impairment |
OMIM:619736 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Posteriorly rotated ears, Synophrys, Cupped ear, Microtia, Low-set ears |
OMIM:619873 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Peters Plus Syndrome |
|
Ureteral duplication, Clitoral hypoplasia, Conductive hearing impairment, Spina bifida occulta, R... |
ORPHA:709 |
Atelosteogenesis Type I |
|
Rhizomelia, Neonatal short-trunk short stature, Multiple renal cysts, Retinal dysplasia, Low-set ... |
ORPHA:1190 |
Hermansky-Pudlak Syndrome 9 |
|
Ocular albinism, Abnormal platelet aggregation, Leukopenia, Hypopigmentation of the skin, Thrombo... |
OMIM:614171 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
Radial-Renal Syndrome |
|
External ear malformation, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Failure to thrive, Hydronep... |
OMIM:619179 |
Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte proliferation, Ab... |
ORPHA:99867 |
Coxoauricular Syndrome |
|
Microtia, Short stature, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
Chung-Jansen Syndrome |
|
Anteverted nares, Cryptorchidism, Macrotia, Obesity, Large earlobe, Short nose, Cafe-au-lait spot |
OMIM:617991 |
Lethal Osteosclerotic Bone Dysplasia |
|
Posteriorly rotated ears, Anteverted nares, Depressed nasal ridge, Low-set ears, Intrauterine gro... |
ORPHA:1832 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Protruding ear, Hypoalbuminemia, He... |
OMIM:619534 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Anteverted nares, Depressed nasal bridge, Short stature, T lymphocytopenia, In... |
OMIM:242860 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaund... |
OMIM:211600 |
Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Short stature,... |
ORPHA:2308 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... |
ORPHA:537 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Severe short stature, Hypopigmented skin patches, Sensorineural hearing impairment |
ORPHA:3239 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Small... |
OMIM:227650 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis, Weight loss, Testicular... |
ORPHA:764 |
Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto... |
ORPHA:36426 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Generalized hyperpigmentation, Failure to thrive in infancy, A... |
ORPHA:1340 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Postnatal growth retardation, Hypoplastic labia minora, Optic atrophy, Micropenis,... |
OMIM:614222 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Bundle branch block, Hepatoblastoma, Low-set, posterio... |
ORPHA:373 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Chroni... |
ORPHA:33355 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Ureteral stenosis, Asplenia, Patent ductus arte... |
OMIM:270100 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... |
ORPHA:54251 |
Isotretinoin Syndrome |
|
Hypoplastic toenails, Microtia, Abnormality of the outer ear, Cleft palate |
ORPHA:2305 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Short stature, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Cleft palate, Microtia, High... |
OMIM:612530 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Conductive hearing impairment, P... |
ORPHA:391641 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Prominent nasal bridge, Asymmetry of the ears, Postnatal growth retardation, Crypt... |
OMIM:614225 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc... |
ORPHA:309108 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality... |
ORPHA:2538 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Convex nasal ridge, Cachexia, Weight loss, Abnormality of skin pigmentation, Premature graying of... |
ORPHA:1979 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... |
ORPHA:171 |
Meier-Gorlin Syndrome 1 |
|
Small for gestational age, Hyperconvex nail, Cryptorchidism, Microtia, Long eyelashes, Atresia of... |
OMIM:224690 |
Schinzel-Giedion Syndrome |
|
Renal cyst, Choanal stenosis, Hepatoblastoma, Myeloid leukemia, Micropenis, Streak ovary, Hypospa... |
ORPHA:798 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Nephropathy, Renal insufficiency, Highly arched eyebrow |
ORPHA:2318 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... |
ORPHA:3440 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Proteinuria, Retinal dystrophy, Depressed nasal bridge, Broad nasal tip, Post... |
OMIM:222448 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Abnormal intesti... |
ORPHA:525 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short stature, Growth delay, Short nose, Macrotia |
ORPHA:438178 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Weight loss, Hydronephrosis, Anemia |
ORPHA:35687 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Failure to thrive, Sensorineural hearing impairment |
OMIM:618379 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Angina pectoris, Anteverted nares, Cachexia, Short stature, Telangiectasia, Intracrani... |
ORPHA:109 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Low-set ears, Intraute... |
OMIM:615419 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Decreased circulating IgA level, Decreased circulating antibody level, Growth dela... |
OMIM:617744 |
Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Rod-cone dystrophy, Primary adrenal insufficiency, ... |
ORPHA:2047 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Nephropathy, Renal insufficiency, Highly arched eyebrow |
ORPHA:220497 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Short stature, Underd... |
OMIM:604173 |
Congenital Erythropoietic Porphyria |
|
Hypopigmentation of the skin, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulati... |
ORPHA:79277 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnorm... |
ORPHA:280 |
Tarp Syndrome |
|
Low-set, posteriorly rotated ears, Extramedullary hematopoiesis, Abnormal hair pattern, Cryptorch... |
ORPHA:2886 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Sensorineural hearing impairment, Chronic kidney disea... |
ORPHA:488627 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sensorineural hearing impairment, Obesity, Conductive hearing impai... |
ORPHA:261197 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares, Low-set ears |
ORPHA:46 |
Cenani-Lenz Syndrome |
|
Renal hypoplasia/aplasia, Protruding ear, Crossed fused renal ectopia, Hypothyroidism, Convex nas... |
ORPHA:3258 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sensorineural hearing impairment, Abnor... |
ORPHA:760 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Microtia, Short stature, Low-set ears, Hearing impairment |
OMIM:619056 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro... |
ORPHA:331235 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Decreased cir... |
ORPHA:51636 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormal... |
ORPHA:920 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Abnorm... |
ORPHA:727 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim... |
ORPHA:1855 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph... |
ORPHA:39041 |
Bartter Syndrome Type 4 |
|
Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary potassium, Im... |
ORPHA:89938 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Anteverted nares, Decreased heart rate variabil... |
OMIM:619005 |
Autoimmune Polyendocrinopathy Type 2 |
|
Celiac disease, Alopecia, Hypoparathyroidism, Hypopigmented skin patches |
ORPHA:3143 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Abnormal ovarian m... |
ORPHA:95699 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Vertigo, Papillary ... |
OMIM:193300 |
Essential Thrombocythemia |
|
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Esophageal diverticulum, Hamartoma of tongue, Clef... |
OMIM:617925 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age, Short stature |
OMIM:245570 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Increased circulating ferritin con... |
OMIM:222700 |
Lowry-Maclean Syndrome |
|
Hypospadias, Choanal atresia, Bilateral cryptorchidism, Abnormality of the abdominal organs, Grow... |
ORPHA:2409 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Lymphopenia, Failure to thrive, Decreased circulating IgG level, Fem... |
OMIM:208900 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Failure to thrive in infancy, Ab... |
ORPHA:1308 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Anteverted nares, Decreased response to growth hormone stimulation test, Unilateral re... |
OMIM:213980 |
Down Syndrome |
|
Depressed nasal bridge, Renal hypoplasia/aplasia, Abnormality of the lymphatic system, Depressed ... |
ORPHA:870 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... |
ORPHA:79133 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Anencephaly, Renal cyst... |
OMIM:612284 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Maternal Uniparental Disomy Of Chromosome X |
|
Depressed nasal bridge, Short stature, Congestive heart failure, Gonadal tissue inappropriate for... |
ORPHA:261519 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Short stature, Cachexia |
ORPHA:1389 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Abnormality of skin pigmentation, Neutropenia, Micropenis, Pel... |
OMIM:227646 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Renal agenesis, Anteverted nares, Choanal atresia, Midn... |
ORPHA:280200 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis... |
OMIM:619859 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Microtia, third degree, Hypospadias, Posteriorly rotated ears, Epispadias, C... |
ORPHA:2554 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma... |
OMIM:601346 |
Meningococcal Meningitis |
|
Renal insufficiency, Hearing impairment |
ORPHA:33475 |
Adnp Syndrome |
|
Sparse scalp hair, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Prot... |
ORPHA:404448 |
Microphthalmia, Syndromic 6 |
|
Posteriorly rotated ears, Uplifted earlobe, Cryptorchidism, Macrotia, Renal hypoplasia, Protrudin... |
OMIM:607932 |
Meier-Gorlin Syndrome 2 |
|
Short stature, Abnormal pinna morphology, Birth length less than 3rd percentile, Microtia, Gastro... |
OMIM:613800 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells |
OMIM:611926 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Abnormali... |
ORPHA:538 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Malrotation of... |
ORPHA:139466 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Anemia, Delayed puberty |
ORPHA:2598 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Jacobsen Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Annular pancreas, Optic at... |
OMIM:147791 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Wide nose, Hypospadias, Mitral stenosis, Anteverted nares, Short stature, Splenomeg... |
ORPHA:955 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphad... |
OMIM:260920 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Low-set ears, Neonatal death, Cachexia, Hearing impairment |
OMIM:618186 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Growth dela... |
OMIM:252160 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Low-set ears, Wide nasal bridge, Elevated circulating creatine kinase concentration, Aplasia/Hypo... |
ORPHA:168486 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology |
OMIM:219750 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnorma... |
ORPHA:79456 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolem... |
ORPHA:31824 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Posteriorly rotated ears, Cryptorchidism, Widow's peak, Pollakisuria, Microtia, Short nose, Heari... |
OMIM:227330 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Generalized hyperpigmentation, Hypospadias, Anteverted nares, Epispadi... |
ORPHA:3339 |
Distal Duplication 5Q |
|
Hypospadias, Prominent nasal bridge, Short stature, Cryptorchidism, Aplasia/Hypoplasia of the gal... |
ORPHA:96097 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy, Adre... |
ORPHA:100083 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short nose, Short stature |
ORPHA:2370 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto... |
OMIM:607765 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Anteverted nares, Depressed nasal bridge, Oligosacchariduria, Short nose, Hyp... |
ORPHA:163649 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Renal malrotation, Anteverted nares, Decreased response to growth hormone stimulation test, Depre... |
OMIM:615866 |
Miller-Dieker Lissencephaly Syndrome |
|
Failure to thrive, Anteverted nares, Posteriorly rotated ears, Cryptorchidism, Wide nasal bridge,... |
OMIM:247200 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Sensorineural hearing impairment, Microtia, Hepatic steatosis |
OMIM:275630 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... |
ORPHA:478029 |
Orotic Aciduria |
|
Failure to thrive, Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unres... |
OMIM:258900 |
Behçet Disease |
|
Aortic regurgitation, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Pericardi... |
ORPHA:117 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Cryptorchidism, C... |
ORPHA:93271 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Steroid-dependent nephrotic syndrome, Urinary incontinence, Anteverted nares, Depressed nasal bri... |
OMIM:300912 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased response to growth hor... |
OMIM:619004 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypogonadotropic hypogonadism, Anosmia, Hypopigmented skin pa... |
ORPHA:1295 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity |
OMIM:615989 |
Auriculocondylar Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hamartoma of tongue, Cleft helix, E... |
ORPHA:137888 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Failure to thrive in infancy, Prominent nasal bridge, Short stature, Conduct... |
ORPHA:1225 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Optic atrophy, Protruding ear, Growth delay, Intrauterine growth retardation, Shor... |
ORPHA:1495 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, Depressed nasal ridge, Conductive hearing impairment, Thickened helices, Hypothyr... |
OMIM:607872 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Toenail dysplasia, Abnormal iris pig... |
ORPHA:2614 |
Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Cryptorchidism, Birth length less than 3rd percentile, Microtia, Low-set ears, Int... |
OMIM:613804 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Hypopigmentation of hair, Underdeveloped nasolabial fold, Hypogonadotropic h... |
ORPHA:177907 |
Gapo Syndrome |
|
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Retinal arteriolar tortuosity, Optic atro... |
OMIM:230740 |
Coffin-Siris Syndrome |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Postnatal growth retardat... |
ORPHA:1465 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Rhizomelia, Large for gestational age, Cryptorchidism, Umbilical hernia, ... |
OMIM:616638 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Peho-Like Syndrome |
|
Short nose, Optic atrophy |
OMIM:617507 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Small nail, Vesicoureteral... |
OMIM:140000 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Depressed nasal bridge, Short stature, Cachexia, ... |
ORPHA:79076 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Anteverted nares, C... |
ORPHA:2059 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Choanal atresia, Horseshoe kidney, Stenosis of the external auditory cana... |
ORPHA:93260 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Decreased body weight, Proteinuria, Abnormality of body weight, Increased circu... |
ORPHA:2298 |
Barth Syndrome |
|
Fair hair, Cyclic neutropenia, Macrotia, Hypochromic microcytic anemia, 3-Methylglutaconic acidur... |
OMIM:302060 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Abnormality of the kidney, Cholangitis, Retroperitoneal fibros... |
ORPHA:449432 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed nasal bridge, Proportionate s... |
OMIM:613457 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Short stature, Glandular hypospadias, Growth delay, Short nose, Hydronephrosis,... |
ORPHA:1358 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Fair hair, Hypospadias, Hyperpigmented/hypopigmented macules, Cryptorchidism, Prema... |
OMIM:620331 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Renal salt wasting, Decreased urinary po... |
ORPHA:85138 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Brittle hair, Alopecia, Pancreati... |
ORPHA:2750 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Prominent nasal bridge, Renal hypoplasia/aplasia, Microtia, Abnormality of the uterus, Intrauteri... |
ORPHA:1788 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Nephrolithiasis, Hypocalciuria |
OMIM:617671 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Retinal atrophy, Elevated circulating creatine kinas... |
OMIM:236670 |
Menkes Disease |
|
Alopecia, Brittle hair, Short stature, Sparse hair, Intrauterine growth retardation, Hypopigmenta... |
OMIM:309400 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Vertigo, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Posteriorly rotated ears, Synophrys, Microtia, Recurrent otitis media, Thick eyebrow |
OMIM:602562 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Reticulated skin pigmentation, ... |
ORPHA:69087 |
Nephroblastoma |
|
Weight loss, Hematuria, Hypertension, Lymphadenopathy, Neoplasm of the liver, Nephroblastoma |
ORPHA:654 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Iron deficie... |
ORPHA:79408 |
White-Kernohan Syndrome |
|
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Horses... |
OMIM:619426 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Wiedemann-Steiner Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Rhizomelia, Dilatation of r... |
ORPHA:319182 |
Al-Raqad Syndrome |
|
Hypopigmentation of the skin, Low-set ears |
OMIM:616459 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Posteriorly rotated ears, Cryptorchidism, Cleft palate, Growth delay, Microtia, Long eyelashes, L... |
OMIM:601353 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypocalciuria |
OMIM:154020 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Sensorineural hearing impairment, Optic atrophy, Adrenal insuffi... |
OMIM:614863 |
Hepatoerythropoietic Porphyria |
|
Facial hypertrichosis, Hemolytic anemia, Splenomegaly, Scarring alopecia of scalp, Loss of eyelas... |
ORPHA:95159 |
Focal Dermal Hypoplasia |
|
Narrow nasal bridge, Multicystic kidney dysplasia, Telangiectasia of the skin, Spina bifida, Rena... |
ORPHA:2092 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Decreased circulating antibod... |
ORPHA:79396 |
Hemochromatosis, Type 3 |
|
Hyperpigmentation of the skin, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Cachexia, Optic atrophy, Hypopigmented skin patch... |
ORPHA:206436 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Paten... |
ORPHA:2473 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... |
ORPHA:210122 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Renal agenesis, Renal hypoplasia/aplasia, Esophageal atresia, Cryptorchid... |
ORPHA:3412 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Microtia, Cleft palate |
OMIM:248390 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Leukocytosis, Dilated cardiomyopathy... |
ORPHA:20 |
Raine Syndrome |
|
Mixed hearing impairment, Hydroureter, Depressed nasal bridge, Choanal atresia, Short stature, Po... |
OMIM:259775 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Arteriosclerosis, Severe Juvenile |
|
Central fundal arteriolar microaneurysms, Short stature, Myocardial infarction, Central retinal v... |
OMIM:208060 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Trisomy 8P |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Cryptorchidism, Fetal pyelect... |
ORPHA:264450 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Sensorineural hearing impairment, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Protruding ear, Abnormality of skin pigmentation, Chorioretinal coloboma, Otitis m... |
OMIM:619475 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Anteverted nares, Depressed nasal bridge, Broad nasal tip, C... |
ORPHA:495875 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Hematemesis, Increased... |
OMIM:615846 |
Clark-Baraitser Syndrome |
|
Anteverted nares, Depressed nasal bridge, Obesity, Large earlobe, Low-set ears, Short nose, Low h... |
OMIM:617752 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Anteverted nares, Rhizomelia, Hearing abnormality, Patent ductus arteriosus, Depres... |
ORPHA:1842 |
Q Fever |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Vasculitis, Hepatitis, Hepatosplenomegaly,... |
ORPHA:781 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... |
OMIM:615980 |
Gm1 Gangliosidosis |
|
Depressed nasal bridge, Short stature, Broad nasal tip, Abnormal retinal vascular morphology, Spl... |
ORPHA:354 |
Yao Syndrome |
|
Pericarditis, Xerostomia, Nephrolithiasis, Weight loss, Keratoconjunctivitis sicca |
OMIM:617321 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Seckel Syndrome 7 |
|
Severe short stature, Prominent nose, Central hypothyroidism, Hypoplasia of the uterus, Microtia,... |
OMIM:614851 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, Dysphagia, Hypopigmentation of the skin, Iris hypopi... |
ORPHA:98795 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Urinary incontinence, Cerebral atrophy, Axonal loss, Abnormal upper motor neuron... |
OMIM:221770 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen,... |
ORPHA:2072 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Webbed penis, Micropenis, Multic... |
ORPHA:97360 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Vaginal dryness, Dysuria, Xerostomia, Renal tubular epithelial necrosi... |
ORPHA:95455 |
Congenital Disorder Of Deglycosylation 2 |
|
Highly arched eyebrow, Hamartoma of tongue, Macroglossia, Microtia, High palate, Dysphagia, Cleft... |
OMIM:619775 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Mitral stenosis, Small for gestational age, Broad nasa... |
ORPHA:1596 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Generalized hyperpigmentation, Decreased circul... |
ORPHA:361 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Meier-Gorlin Syndrome 6 |
|
Severe short stature, Small for gestational age, Decreased response to growth hormone stimulation... |
OMIM:616835 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal gro... |
ORPHA:96180 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... |
ORPHA:79240 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... |
ORPHA:31826 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Posteriorly rotated ears, Low-set ears, Dysphagia |
ORPHA:163961 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Hyperuricemia, ... |
ORPHA:134 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, Low-set ears, U... |
OMIM:613544 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Micro... |
ORPHA:268261 |
Orofaciodigital Syndrome Type 4 |
|
Depressed nasal ridge, Abnormality of the ear, Conductive hearing impairment, Microtia, third deg... |
ORPHA:2753 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol... |
OMIM:612563 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Abnormality of the kidney, Hearing im... |
OMIM:209900 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Nephrotic syndrome, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:238468 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul... |
ORPHA:220460 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Renal insufficiency, Retinal detachment, Pericarditis... |
ORPHA:73263 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepa... |
OMIM:617093 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Mixed hearing impairment, Anteverted nares, Broad nasal tip,... |
OMIM:272460 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Hypospadias, Mitral stenosis, Depressed nasal bridge, Unde... |
ORPHA:163956 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Depressed nasal bridge, Polyuria, Unilateral renal agen... |
OMIM:617140 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Down Syndrome |
|
Aganglionic megacolon, Short stature, Protruding tongue, Brushfield spots, Duodenal stenosis, Acu... |
OMIM:190685 |
Acute Radiation Syndrome |
|
Hyperpigmentation of the skin, Vertigo, Telangiectasia, Granulocytopenia, Hypotension, Lymphopeni... |
ORPHA:454831 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias... |
ORPHA:818 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow nasal ridge, Hyperlipidemia, Stage 5 chronic kidney disease, Growth delay, Short nose, Mot... |
OMIM:608612 |
Acrofacial Dysostosis, Catania Type |
|
Low-set, posteriorly rotated ears, Hypospadias, Short stature, Cryptorchidism, Intrauterine growt... |
ORPHA:1786 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Panhypogammaglobulinemia, Absent circulating B cells |
OMIM:307200 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Short stature, Posteriorly rotated ears, Bulbous nose, Wide nasal bridge, Growt... |
OMIM:613604 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Splen... |
ORPHA:163746 |
Orofaciodigital Syndrome Xiv |
|
Posteriorly rotated ears, Epispadias, Patent ductus arteriosus, Cryptorchidism, Unilateral renal ... |
OMIM:615948 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias, Short stature, Broad nasal tip, Brushfield spots, Hypopigmented skin ... |
ORPHA:1784 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Liddle Syndrome 1 |
|
Renal insufficiency |
OMIM:177200 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Dysphagia, Hypopigmentation of the skin, Iris hypopi... |
ORPHA:411511 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,... |
ORPHA:35858 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Multicystic kidney dysplasia, Telangiectasia of the skin, Patent ductus arter... |
ORPHA:1556 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, External genital hypoplasia, Prominent nasal bridge, Convex nasal ridge, Postnatal gro... |
ORPHA:251028 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... |
ORPHA:100078 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat... |
ORPHA:79319 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Hypohidrosis, ... |
ORPHA:1812 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Posteriorly rotated ears, Renal agenesis, Unilateral renal agenesis, Low-set ears, Overfolded hel... |
OMIM:608980 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Agenesis of cerebellar vermis, Elevated circulating creatine kinase... |
OMIM:615287 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Gastroesophageal reflux, Hypopigmented skin patches, Dysphagia |
ORPHA:220402 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Anteverted nares, ... |
ORPHA:233 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Epispadias, Vitritis, Abnormality of the ear, Abnormality of skin pigmen... |
ORPHA:2556 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m... |
ORPHA:35689 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Aspartylglucosaminuria |
|
Hepatomegaly, Aspartylglucosaminuria, Splenomegaly, Wide nasal bridge, Microtia, Macroorchidism, ... |
ORPHA:93 |
Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Anteverted nares, Cryptorchidism, Sensorineural hearing impairment, Short nose... |
OMIM:617201 |
Mismatch Repair Cancer Syndrome 1 |
|
Axillary freckling, Adenomatous colonic polyposis, Adenocarcinoma of the small intestine, Adenoca... |
OMIM:276300 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Cryptorchidism,... |
OMIM:217980 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod... |
ORPHA:244242 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Classic Phenylketonuria |
|
Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Low-set ears, ... |
OMIM:617822 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Cryptorchidism, Pulmonic sten... |
ORPHA:2701 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption |
ORPHA:79302 |
Idiopathic Bronchiectasis |
|
Cachexia, Myocardial infarction |
ORPHA:60033 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Bilateral breast hypoplasia, Severe postnatal growth retardation, Microtia, Severe... |
ORPHA:319675 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati... |
ORPHA:169160 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, ... |
ORPHA:293978 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Rhizomelia, Posteriorly rotated ears, Growth delay, Microtia, Small nail, Nail dysplasia, Sparse ... |
OMIM:614813 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal platelet granules, Albinism, Impaired ADP-induced platelet aggregation, Ocular albinism,... |
OMIM:614075 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bul... |
ORPHA:485405 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... |
OMIM:609136 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Hypermelanotic macule, Abnormal retinal morphology, Abnormality of t... |
ORPHA:33276 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Linear hyperpigmentation, Cleft ala nasi, Clitoral hypoplasia, Chorioretina... |
OMIM:305600 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Cerebral vasculitis, Viral hepatitis, Membranoprolife... |
ORPHA:48435 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Posteriorly rotated ears, Short nose, Anteverted nares, Low-set ears |
OMIM:618506 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Increased circulating antibody lev... |
OMIM:617591 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Sensorineural hearing impairment, Growth d... |
OMIM:618500 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Hepatocellu... |
ORPHA:465508 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Small for gestational age, Anteverted nares, Proportionate short stature, Sensorineura... |
ORPHA:391408 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism,... |
OMIM:616894 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Acute Intermittent Porphyria |
|
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... |
ORPHA:79276 |
Erythrokeratodermia Variabilis |
|
Short stature, Hypermelanotic macule, Weight loss, Protruding ear, Irregular hyperpigmentation, A... |
ORPHA:317 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Prominent nose, Precocious puberty, Underdeveloped nasal alae, Patent ductus arteriosus, Dispropo... |
ORPHA:2637 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Posteriorly rotated ears, Cryptorchidism... |
OMIM:268310 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Short stature, Long nose, Cryptorchidism, Intrauterine growth retardation, Short nos... |
OMIM:617602 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Depressed nasal bridge, Abnormal pinna morphology, Ureteral obstructi... |
ORPHA:90652 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal h... |
OMIM:152800 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Stage 5 chronic kidney dis... |
ORPHA:1018 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad nasal tip, Wide nasal bridge, Growth delay, Vesicoureteral reflux, Short nose, Hearing impa... |
OMIM:614749 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ... |
ORPHA:71273 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Short stature, Alopecia totalis, Cryptorchidism, Functional abnormality of the g... |
ORPHA:221008 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Hyperammonemia, Br... |
OMIM:610015 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Synophrys, Low anterior hairline, Conductive hearing impairment, Vesicourete... |
ORPHA:199 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Stage 5 chronic kidney... |
OMIM:268315 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Short stature, Alopecia totalis, Cryptorchidism, Functional abnormality of the g... |
ORPHA:221016 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Elevated circulating alp... |
ORPHA:420741 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology |
OMIM:614227 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Short stature, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentatio... |
ORPHA:1867 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Increased mean platelet volume, Unilateral renal ... |
ORPHA:487796 |
Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Isolated Biliary Atresia |
|
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... |
ORPHA:30391 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Depressed nasal bridge, Short stature, Cryptorchidism, Bulbous nose, Wide nasal bridge, Low-set e... |
ORPHA:369891 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose |
ORPHA:2429 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism... |
OMIM:616331 |
Mend Syndrome |
|
Short stature, Prominent nasal bridge, Posteriorly rotated ears, Cryptorchidism, Bulbous nose, Sp... |
OMIM:300960 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Vaginal neoplasm, Reduced C-peptide level, Weight loss, Neoplasm ... |
ORPHA:2126 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, Depressed nasal bridge, Short stature, Reduced pancreatic beta... |
OMIM:226980 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short stature, Bulbous nose, Wide nasal bridge, Protruding ear, Retinal coloboma, Low-set ears, S... |
OMIM:618571 |
Listeriosis |
|
Brain abscess, Pericarditis, Liver abscess, Abscess, Congestive heart failure, Myocarditis, Jaund... |
ORPHA:533 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Episodic hyperhidrosis, Jaundice, Chronic kidney disease, Hype... |
ORPHA:469 |
Crouzon Syndrome |
|
Hypopigmented skin patches, Narrow palate, Melanocytic nevus, Conductive hearing impairment, Narr... |
ORPHA:207 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... |
OMIM:300972 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... |
OMIM:617237 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Global brain atro... |
ORPHA:275872 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Hypospadias, Decreased response to g... |
ORPHA:444077 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Anteverted ... |
ORPHA:1507 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,... |
OMIM:615934 |
Agel Amyloidosis |
|
Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjunctivitis sic... |
ORPHA:85448 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Unilateral external ear deformity, Ectopic kidney, ... |
OMIM:164210 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia, Jaundice, Lym... |
ORPHA:540 |
Pitt-Hopkins Syndrome |
|
Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Postnatal growth retardation, Cry... |
ORPHA:2896 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Cleft palate |
OMIM:243440 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Meige Disease |
|
Angiosarcoma, Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Mosaic Trisomy 20 |
|
Abnormality of the kidney, Cryptorchidism, Depigmentation/hyperpigmentation of skin, Horseshoe ki... |
ORPHA:1724 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
Nablus Mask-Like Facial Syndrome |
|
Small earlobe, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Cryptorchidism... |
OMIM:608156 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Cupped ear, Xerostomia, Microtia, Hearing impairment |
OMIM:620193 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Protruding tongue, Dysphagia, Hypopigmentation of the skin, Iris hypopi... |
ORPHA:98794 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Low-set ears, Abnormality of hair texture |
ORPHA:2752 |
Postaxial Acrofacial Dysostosis |
|
Abnormality of the kidney, Supernumerary nipple, Postnatal growth retardation, Pyloric stenosis, ... |
OMIM:263750 |
Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Hypoplastic fingernail, Microtia, third degree, Absent eyelashes, Hypoplastic nip... |
OMIM:200110 |
Trisomy 12P |
|
Short stature, Supernumerary nipple, Wide nasal bridge, Abnormal antihelix morphology, Abnormalit... |
ORPHA:1699 |
Cerebrocostomandibular Syndrome |
|
Posteriorly rotated ears, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst,... |
OMIM:117650 |
Visceral Myopathy 1 |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Pancreatitis, Microcolon, Megacystis, Urina... |
OMIM:155310 |
Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Wide nasal brid... |
ORPHA:1519 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune thrombocytopenia, Celiac disease, Non... |
ORPHA:227990 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... |
OMIM:278000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Dilatation of the... |
OMIM:265380 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Short nose, Bilateral choanal atresia |
ORPHA:1200 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Rhizomelia, Short stature, Cleft palate, Low posterior hairline, Microtia, Low-set ears, Prominen... |
OMIM:245600 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Decreased circulating antibody level, Hematochezia, Protein-losing ente... |
OMIM:618183 |
Sotos Syndrome |
|
Ureteral duplication, Conductive hearing impairment, Chronic otitis media, Vesicoureteral reflux,... |
ORPHA:821 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Bulbous nose, Patent ductus ar... |
ORPHA:284169 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anteverted nares, Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Dep... |
OMIM:613038 |
Acrofacial Dysostosis, Cincinnati Type |
|
Patent ductus arteriosus, Anotia, Microtia, Decreased body weight, Macrotia |
OMIM:616462 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Alopecia, Autoimmune hypoparathyroidism, Autoimmune thromb... |
ORPHA:227982 |
Immunodeficiency 40 |
|
Hepatomegaly, Eosinophilic granuloma, Growth delay, T lymphocytopenia, Macrovesicular hepatic ste... |
OMIM:616433 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Secondary hyperparathyroidism |
ORPHA:280062 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Posteriorly rotated ears, Short stature, Pulmonary arterial hypertension, Shor... |
OMIM:300887 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98754 |
Faundes-Banka Syndrome |
|
Sparse scalp hair, Hypoplastic toenails, Cryptorchidism, Cupped ear, Cleft palate, Dysphagia, Mic... |
OMIM:619376 |
Takayasu Arteritis |
|
Hypertensive crisis, Myocardial infarction, Vasculitis, Weight loss, Hyperhidrosis, Hypertension,... |
ORPHA:3287 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, External genital hypoplasia, Large for gestational age, Hepa... |
ORPHA:96334 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Cardiomyopath... |
OMIM:212112 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Hepatomegaly, Anteverted nares, Optic atrophy, Wide nasal bridge, Low-set ea... |
OMIM:619383 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Gast... |
ORPHA:436252 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:98793 |
Intellectual Developmental Disorder, X-Linked 30 |
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Anteverted nares, Prominent nasal bridge, Short stature, Short nose, Macrotia |
OMIM:300558 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177904 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Hypoplastic female external geni... |
OMIM:618577 |
Angelman Syndrome |
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Protruding tongue, Blue irides, Macroglossia, Fair hair, Hypopigmentation of the skin |
OMIM:105830 |
Angelman Syndrome |
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Abnormality of the gastrointestinal tract, Protruding tongue, Gastroesophageal reflux, Dysphagia,... |
ORPHA:72 |
Mosaic Trisomy 16 |
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Abnormality of the gastrointestinal tract, Abnormal ear morphology, Hypospadias, Horseshoe kidney... |
ORPHA:1708 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
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Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... |
ORPHA:158681 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Anteverted nares, Prominent nasal bridge, Ectopic kidney, Short stature, Cryptorchid... |
ORPHA:3063 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Curly eyelashes, Postnatal growth retardation, Rhizo-meso-acromelic limb shortening, Microtia, Di... |
OMIM:611717 |
Mercury Poisoning |
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Acute kidney injury |
ORPHA:330021 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:177901 |
Immunoglobulin A Vasculitis |
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Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria |
ORPHA:761 |
Acromicric Dysplasia |
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Bulbous nose, Short nose, Severe short stature, Anteverted nares |
ORPHA:969 |
Chylomicron Retention Disease |
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Acanthocytosis, Increased hepatocellular lipid droplets, Growth delay, Steatorrhea, Fat malabsorp... |
ORPHA:71 |
Gaucher Disease, Type I |
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Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia |
OMIM:230800 |
Cebalid Syndrome |
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Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, De... |
OMIM:618774 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Toriello-Carey Syndrome |
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Aganglionic megacolon, Short stature, Abnormal pinna morphology, Postnatal growth retardation, Cr... |
ORPHA:3338 |
Ornithine Transcarbamylase Deficiency |
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Splenomegaly |
ORPHA:664 |
Opsismodysplasia |
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Anteverted nares, Depressed nasal bridge, Rhizomelia, Posteriorly rotated ears, Renal phosphate w... |
OMIM:258480 |
Van Esch-O'Driscoll Syndrome |
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Short stature, Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Growth delay, Micro... |
OMIM:301030 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Depressed nasal bridge, Posteriorly rotated ears, Precocious puberty, Obesity, Hepa... |
OMIM:301066 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Hydrocele testis, Microtia, Aganglionic megacolon, Low-set ears |
OMIM:613603 |
Cerebrocostomandibular Syndrome |
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Conductive hearing impairment, Multicystic kidney dysplasia, Atresia of the external auditory canal |
ORPHA:1393 |
Lacrimoauriculodentodigital Syndrome 1 |
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Mixed hearing impairment, Renal agenesis, Absence of Stensen duct, Hearing impairment, Aplasia of... |
OMIM:149730 |
Cranioectodermal Dysplasia 1 |
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Slow-growing hair, Thin nail, Short nail, Renal magnesium wasting, Chronic kidney disease, Stage ... |
OMIM:218330 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Gaucher Disease Type 1 |
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Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased ... |
ORPHA:77259 |
Acrocallosal Syndrome |
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Failure to thrive, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Postnatal gr... |
OMIM:200990 |
Neurooculorenal Syndrome |
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Hypoplasia of the bladder, Ectopic posterior pituitary, Mixed hearing impairment, Unilateral rena... |
OMIM:620305 |
Xeroderma Pigmentosum |
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Conjunctival telangiectasia, Telangiectasia of the skin, Hypermelanotic macule, Flat nasal alae, ... |
ORPHA:910 |
Bladder Exstrophy And Epispadias Complex |
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Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Pericarditis, Hyperpigmentation of the skin, Abnormal retinal va... |
ORPHA:90340 |
Abetalipoproteinemia |
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Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Rothmund-Thomson Syndrome |
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Aplastic anemia, Short stature, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyp... |
ORPHA:2909 |
Parietal Foramina With Cleidocranial Dysplasia |
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Microtia |
OMIM:168550 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Retinal detachment, Depressed nasal bridge, Short stature, Posteriorly rotated ears, Optic atroph... |
OMIM:619833 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Aplasia/Hypoplasia of the earlobes, Abnormal antitragus morphology, Microtia, Conductive hearing ... |
ORPHA:2878 |
Leptospirosis |
|
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Cellular urinary ca... |
ORPHA:509 |
Kagami-Ogata Syndrome |
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Postnatal growth retardation, Microtia, Dysphagia, Hepatoblastoma, Frontal hirsutism |
ORPHA:254519 |
X-Linked Creatine Transporter Deficiency |
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Abnormal circulating creatine concentration, Short stature, Cachexia |
ORPHA:52503 |
Tetrasomy 9P |
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Glue ear, Biliary atresia, Intrauterine growth retardation, Micropenis, Absent gallbladder, Abnor... |
ORPHA:3310 |
Muenke Syndrome |
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Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Sensorineural hearing impai... |
ORPHA:53271 |
Microphthalmia, Syndromic 1 |
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Hydroureter, Hypospadias, Abnormal pinna morphology, Renal hypoplasia/aplasia, Cryptorchidism, Re... |
OMIM:309800 |
Eisenmenger Syndrome |
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Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... |
ORPHA:97214 |
Hypercholanemia, Familial 1 |
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Fat malabsorption, Steatorrhea |
OMIM:607748 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,... |
OMIM:603553 |
Relapsing Polychondritis |
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Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Chondritis of pinna, Vertigo, Sensori... |
ORPHA:728 |
Congenital Disorder Of Glycosylation, Type Iu |
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Short nose, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:615042 |
Cowden Syndrome |
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Abnormal penis morphology, Endometrial carcinoma, Short stature, Abnormality of the kidney, Heari... |
ORPHA:201 |
Barber-Say Syndrome |
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Absent nipple, Sparse eyelashes, Extra concha fold, Hearing impairment, Sparse eyebrow, Cryptorch... |
OMIM:209885 |
Gray Platelet Syndrome |
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Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Hypopigmentation of hair, High, narrow palate, Sensorineural hearing impairment, Hypopigmented sk... |
ORPHA:3214 |
Aarskog-Scott Syndrome |
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Anteverted nares, Short stature, Elevated circulating luteinizing hormone level, Bilateral crypto... |
OMIM:305400 |
Localized Epidermolysis Bullosa Simplex |
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Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin |
ORPHA:79400 |
Kabuki Syndrome 1 |
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Protruding ear, High palate, Micropenis, Hemolytic anemia, Short stature, Highly arched eyebrow, ... |
OMIM:147920 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Vertigo, Chronic kidney disease |
ORPHA:25 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... |
ORPHA:2795 |
Metachromatic Leukodystrophy |
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Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... |
ORPHA:512 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Weight loss, R... |
ORPHA:99885 |
Cowden Syndrome 1 |
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Hyperthyroidism, Hearing impairment, Thyroiditis, Angioid streaks of the fundus, Decreased circul... |
OMIM:158350 |
Pancreatic Lipase Deficiency |
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Fat malabsorption, Steatorrhea |
OMIM:614338 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Posteriorly rotated ears, Cryp... |
OMIM:601776 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Hypertensive crisis, Myocarditis, Leukocyt... |
ORPHA:544482 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Depressed nasal bridge, Short stature, Microtia, Low-set ears, Short nose |
OMIM:616723 |
Late-Onset Isolated Acth Deficiency |
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Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... |
ORPHA:199299 |
Edinburgh Malformation Syndrome |
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Anteverted nares, Choanal atresia, Brushfield spots, Low-set ears, Short nose, Failure to thrive |
ORPHA:1895 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Short stature, Dysuria, Dys... |
OMIM:618131 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Lymphopenia, Hypoproteinemia, Chorioretinal coloboma, Decreased circulating antibody level |
ORPHA:1116 |
Developmental And Epileptic Encephalopathy 75 |
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Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Cardiomyopathy, Prolonged ... |
OMIM:618437 |
Thoraco-Abdominal Enteric Duplication |
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Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Microtia With Meatal Atresia And Conductive Deafness |
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Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Congenital Enterocyte Heparan Sulfate Deficiency |
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Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Abnormality of retinal pigmentation, Anteverted nares, Short stature, Cachexia, Melanocytic nevus... |
ORPHA:1969 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
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Bulbous nose, Wide nasal bridge, Mild short stature, Short nose, Macrotia |
OMIM:620292 |
Ring Chromosome 13 Syndrome |
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Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Abnormal retinal morphology, Anteverte... |
ORPHA:96176 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
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Low-set ears, Short nose, Anteverted nares, Depressed nasal bridge |
OMIM:613443 |
Chronic Beryllium Disease |
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Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Hypospadias, Small for gestational age, Depressed nasal bridge, Broad nasal tip, Short stature, C... |
OMIM:309590 |
Mullegama-Klein-Martinez Syndrome |
|
Short stature, Curly eyelashes, Sensorineural hearing impairment, Low anterior hairline, Cleft pa... |
OMIM:301022 |
Rett Syndrome |
|
Abnormal T-wave, Short stature, Prolonged QTc interval, Cachexia |
OMIM:312750 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, Prominent nose, Hypocalcemia, Chronic otit... |
OMIM:619503 |
Fryns-Smeets-Thiry Syndrome |
|
Narrow nasal bridge, Short stature, Prominent nasal bridge, Cachexia |
ORPHA:2058 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... |
ORPHA:79078 |
Pallister-Killian Syndrome |
|
Small scrotum, Hyperpigmented streaks, Renal cyst, Hypopigmented streaks, Hypopigmentation of the... |
OMIM:601803 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Short stature, Hearing impairment, Abnormal preputium morphology, Abn... |
ORPHA:2907 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Paronychia, Alopecia of scal... |
OMIM:201100 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Rhizomelia, Postnatal growth retardation, Wide nasal bridge, H... |
ORPHA:263508 |
Poems Syndrome |
|
Papilledema, Hypothyroidism, Primary adrenal insufficiency, Increased circulating prolactin conce... |
ORPHA:2905 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Abnormality of the nose, Underdevelope... |
ORPHA:2710 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Sensorineural hearing impairment, ... |
ORPHA:1529 |
Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Renal hypoplasia/aplasia, Hypoplastic male external genitalia, Ambiguo... |
ORPHA:1234 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Anteverted nares, Abnormal renal morpho... |
ORPHA:59315 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Cirr... |
ORPHA:905 |
Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the kidney, Abnormal retinal morphology, Abnormality ... |
ORPHA:228119 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Curry-Jones Syndrome |
|
Intestinal malrotation, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Serotonin Syndrome |
|
Acute kidney injury |
ORPHA:43116 |
Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Depressed nasal ridge, W... |
ORPHA:950 |
Cholera |
|
Decreased urine output, Abnormality of renal excretion, Acute kidney injury |
ORPHA:173 |
Osteoglophonic Dysplasia |
|
Severe short stature, Hypospadias, Anteverted nares, Depressed nasal bridge, Choanal atresia, Rhi... |
OMIM:166250 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... |
ORPHA:2137 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Small for gestational age, Decreased response to growth hormone stimulation... |
OMIM:614114 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Vesicoureteral reflux, Webbed pe... |
ORPHA:2152 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocorticotropic hormone deficiency, Increased body weight, ... |
ORPHA:1501 |
Chromosome 16P13.3 Duplication Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Synophrys, Low anterior hairline, Protruding ear, Micro... |
OMIM:613458 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short nose, Failure to... |
OMIM:616420 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Short columella, Abnormal nostril morphology, Shor... |
ORPHA:1248 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Short stature, Posterior... |
OMIM:601853 |
Pmm2-Cdg |
|
Prominent nose, Intracranial hemorrhage, Hyperplastic labia majora, Hypoalbuminemia, Hepatic fibr... |
ORPHA:79318 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Transient ischemic attack, Optic nerve hypoplasia, Bilateral renal dysplasia,... |
ORPHA:500150 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Low-set ears, Weight loss |
OMIM:620045 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Abnormal cardiovascular system physiology, Lymphadenopathy |
ORPHA:50251 |
Bainbridge-Ropers Syndrome |
|
Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Depressed nasal bridge, Precociou... |
OMIM:615485 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Short nose, Optic atrophy |
OMIM:617183 |
Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, Hypoplasia of penis, Wide nose, Hypospadias, Anteverted nares, Depress... |
ORPHA:3107 |
Ring Chromosome 7 Syndrome |
|
Small earlobe, Hypospadias, Anteverted nares, Prominent nasal bridge, Short stature, Prominent cr... |
ORPHA:1449 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Optic ... |
OMIM:181000 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury |
ORPHA:90068 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:99413 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Stenosis of the external auditory canal, Microtia, Short stature |
OMIM:171480 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:881 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Short nose, Abnormal vitreous humor morphology, Sensorineural hearing impairment |
ORPHA:90653 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, External genital hypoplasia, Op... |
ORPHA:329178 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Growth delay, Large earlobe, Short nose |
OMIM:615716 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Vesicoureteral reflux, Webbed pe... |
ORPHA:261537 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Increased circulat... |
OMIM:619752 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Rhizomelia, Posteriorly rotated ears, Cr... |
OMIM:180700 |
16P11.2P12.2 Microdeletion Syndrome |
|
Tricuspid regurgitation, Anteverted nares, Short stature, Abnormal pinna morphology, Long nose, B... |
ORPHA:261211 |
Opsismodysplasia |
|
Hepatomegaly, Severe short stature, Depressed nasal bridge, Splenomegaly, Short nose |
ORPHA:2746 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short stature, Obesity, Protruding ear, Hypoplasia of the uterus, Abnormal vagina... |
ORPHA:247768 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Holoprosencephaly 13, X-Linked |
|
Hearing impairment, Submucous cleft hard palate, Cleft palate, Microtia, Gastroesophageal reflux,... |
OMIM:301043 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, Iris transi... |
OMIM:617306 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Short stature, Optic nerve hypoplasia, Prominent nasal bridge, Broad nasal tip... |
OMIM:300749 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Failure to thrive, Hypercalcemia, Short nose |
ORPHA:476126 |
Tetrasomy 5P |
|
Anteverted nares, Posteriorly rotated ears, Postnatal growth retardation, Congestive heart failur... |
ORPHA:3309 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia, Optic atrophy, Numerous pigmented freckles, Retinopathy, Hearing impairment |
ORPHA:220295 |
Fetal Hydantoin Syndrome |
|
Bifid scrotum, Low-set, posteriorly rotated ears, Short stature, Abnormal pinna morphology, Crypt... |
ORPHA:1912 |
Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Wide nose, Hypospadias, Small for gestational age, Anteverted nares, D... |
ORPHA:93357 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Microphthalmia With Limb Anomalies |
|
Unilateral cryptorchidism, Depressed nasal bridge, Posteriorly rotated ears, Postnatal growth ret... |
OMIM:206920 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Cupped ear, Wide nasal bridge, Horseshoe kidney, Over... |
OMIM:609945 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Postnatal growth retardation, Sensorineural hearing impairment, Arterial ruptur... |
OMIM:612394 |
Arthrogryposis, Distal, Type 2A |
|
Small for gestational age, Abnormal auditory evoked potentials, Underdeveloped nasal alae, Postna... |
OMIM:193700 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Renal insufficiency, Posteriorly rotated ears, Thin nail, Concave nai... |
OMIM:218040 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Pericarditis, Abnormal EKG, Urinary incontinence, Hepatomegaly,... |
ORPHA:3385 |
Non-Distal Duplication 13Q |
|
Cryptorchidism, Short nose, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology |
ORPHA:1702 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... |
ORPHA:2902 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Short stature, Eosinophilia, Pancreatic cysts, Thrombocy... |
OMIM:274000 |
Achondrogenesis Type 1B |
|
Severe short stature, Anteverted nares, Disproportionate short stature, Umbilical hernia, Short nose |
ORPHA:93298 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing enter... |
OMIM:619991 |
Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Sensorineural hearing impairm... |
OMIM:614744 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Failure to thrive, Short nose, Fetal pyelectasis |
ORPHA:50810 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Small for gestational age, Anteverted nares, Phimosis, Broad n... |
ORPHA:363611 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age, Short stature |
ORPHA:289266 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Multicystic kidney dysplasia, Alopecia, Renal agenesis, Hypospadias, Unilateral r... |
OMIM:308205 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Posteriorly rotated ears, Bulbous nose, Obesity, Low-set ears, Short nose |
OMIM:618430 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Depressed nasal bridge, Patent ductus arteriosus, Bulbous nose, Wide nasal bridge, Overfolded hel... |
OMIM:617061 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasi... |
OMIM:614643 |
Myhre Syndrome |
|
Short stature, Cryptorchidism, Cleft palate, Fine hair, Birth length less than 3rd percentile, Mi... |
OMIM:139210 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose, Uplifted earlobe |
OMIM:300143 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Streak ovary, Hypospadias, Aplasia of the nasal bone, Cryptorchidism, Uteru... |
OMIM:618820 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Posteriorly rotated ears, Broad nasal tip, Sensorineural hearing impairment, Abnormal renal morph... |
OMIM:239300 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Depressed nasal bridge, Eosinophilia, Prominent nose, Broad nasal tip, Disproportionate short sta... |
OMIM:617425 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pheochromocytoma, Pitu... |
ORPHA:652 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Achondrogenesis |
|
Umbilical hernia, Short nose, Severe short stature, Anteverted nares |
ORPHA:932 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
Pterygium Colli, Isolated |
|
Short nose, Protruding ear |
OMIM:177990 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Right ventricular failure, Abnormal circulating calcium co... |
ORPHA:60025 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Vesicoureteral reflux, Webbed pe... |
ORPHA:261552 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Short nose, Anteverted nares, Depressed nasal bridge |
OMIM:618961 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Turnpenny-Fry Syndrome |
|
Sparse scalp hair, Melanocytic nevus, Microtia, Gastroesophageal reflux, High palate, Low-set ear... |
OMIM:618371 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Macrotia, Wide nasal bridge |
OMIM:218000 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Narrow nasal ... |
OMIM:606721 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Short stature, Posteriorly rotated ears, Spina bifida occulta, Arrhythmia, Pulm... |
OMIM:617877 |
Witteveen-Kolk Syndrome |
|
Glue ear, Decreased response to growth hormone stimulation test, Uplifted earlobe, Protruding ear... |
OMIM:613406 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Eosinophilia, Supernumerary nipple, Telang... |
ORPHA:464 |
Yunis-Varon Syndrome |
|
Protruding ear, Absent fingernail, Small earlobe, Micropenis, Hypospadias, Sparse eyebrow, Crypto... |
OMIM:216340 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Short stature, Wide nasal bridge, Hearing impairment |
OMIM:614078 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
Scedosporiosis |
|
Abnormal renal morphology, Abnormal jejunum morphology |
ORPHA:449280 |
Achondrogenesis Type 1A |
|
Umbilical hernia, Short nose, Severe short stature, Anteverted nares |
ORPHA:93299 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Weight loss |
ORPHA:2198 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le... |
ORPHA:729 |
Seckel Syndrome |
|
Short stature, Convex nasal ridge, Cachexia, Abnormal earlobe morphology, Intrauterine growth ret... |
ORPHA:808 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Abnormal renal morphology, ... |
ORPHA:83 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Sensorineural hearing impairment, Weig... |
OMIM:603041 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Small for gestational age, Short stature, Telangiectasia, Protru... |
OMIM:601675 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Short stature, Subretinal pigment epithelium hemorrhage, Broad nasal tip, Postn... |
ORPHA:357074 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Small scrotum, Posteriorly rotated ears, Optic nerve hypoplasia, Broad na... |
OMIM:620330 |
Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
Sitosterolemia 1 |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Fontaine Progeroid Syndrome |
|
Small scrotum, Conductive hearing impairment, Intrauterine growth retardation, Micropenis, Neonat... |
OMIM:612289 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Autosomal Recessive Omodysplasia |
|
Rhizomelia, Anteverted nares, Depressed nasal bridge, Short stature, Posteriorly rotated ears, Cr... |
ORPHA:93329 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Short stature, Prominent nasal bridge, Posteriorly rotated ears, Cryptorchi... |
OMIM:619745 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Cupped ear, Microtia, Hearing impairment |
OMIM:620192 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Failure to thrive, Sensorineural hearing impairment |
ORPHA:544503 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Abnormality of... |
ORPHA:636 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, Meningocele, Disproportionate short stature, Protruding ear,... |
ORPHA:2879 |
Odontochondrodysplasia |
|
Patent ductus arteriosus, Short nose, Depressed nasal bridge, Short stature |
ORPHA:166272 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
High palate, Sensorineural hearing impairment, Hypopigmentation of the skin |
OMIM:620237 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal septum, Hea... |
OMIM:302950 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Abnormality of the kidney, Hypopigmented skin patches, Patchy al... |
ORPHA:90289 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Abnormal pinna morphology, Narrow nose... |
OMIM:164200 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Optic atrophy, Large earlobe, Facial telangiectasia, Short nose, Failur... |
OMIM:615851 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive |
ORPHA:70472 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Posteriorly rotated ears, Patent ductus a... |
OMIM:602398 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology, External ear malformation, Cryptorchidism, Hypopigmente... |
ORPHA:1647 |
Icf Syndrome |
|
Depressed nasal bridge, Short stature, Abnormality of neutrophils, Decreased circulating antibody... |
ORPHA:2268 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Pericarditis, Abscess, Recurrent upper respiratory tract infecti... |
OMIM:615758 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Short nose, Convex nasal ridge |
OMIM:200130 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, Mitral regurgitation, Protruding ear |
OMIM:615539 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Wide nose, Enlarged labia minora, Prominent nasal br... |
OMIM:606170 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... |
ORPHA:2688 |
Stickler Syndrome |
|
Retinal detachment, Anteverted nares, Depressed nasal bridge, Cachexia, Short stature, Sensorineu... |
ORPHA:828 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... |
ORPHA:79102 |
Treacher Collins Syndrome 2 |
|
Cleft palate, Fusion of middle ear ossicles, Anotia, Microtia, Conductive hearing impairment |
OMIM:613717 |
Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
Norrie Disease |
|
Narrow nasal bridge, Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyalo... |
ORPHA:649 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ... |
ORPHA:3453 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty, Short nose, Anteverted nares |
OMIM:619356 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Short stature, Post... |
OMIM:609942 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Cryptorchidism, Conductive hearing impairment, Cleft p... |
OMIM:154500 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype... |
OMIM:616028 |
Desbuquois Dysplasia 1 |
|
Severe short stature, Depressed nasal bridge, Obesity, Growth delay, Concave nasal ridge, Disprop... |
OMIM:251450 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Glucocortocoid-insensiti... |
ORPHA:171876 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
Microtia-Anotia |
|
Anotia, Microtia |
OMIM:600674 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Choanal stenosis, Anteverted nares, Depressed nasal bridge, Short statu... |
OMIM:602535 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular necrosis,... |
ORPHA:90062 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Melanocytic Nevus Syndrome, Congenital |
|
Congenital giant melanocytic nevus, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short ... |
OMIM:137550 |
Kindler Syndrome |
|
Ridged nail, Anal stenosis, Esophageal stenosis, Phimosis, Urethral stenosis, Spotty hypopigmenta... |
OMIM:173650 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ... |
ORPHA:158048 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Myocardial infarction, Pituitary corticotr... |
ORPHA:96253 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Optic nerve hypoplasia |
ORPHA:228384 |
Ayme-Gripp Syndrome |
|
Sparse scalp hair, Short stature, Posteriorly rotated ears, Sensorineural hearing impairment, Mic... |
OMIM:601088 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Short stature, Brushfield spots, Bifid na... |
ORPHA:1791 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Postnatal growth retardation, Thyroiditis, Weight loss, Iron de... |
OMIM:212750 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... |
OMIM:618849 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Nephroblastoma, Large for gestational age, Thickened ears, Low-set ears, Umbilic... |
ORPHA:77301 |
Intellectual Disability And Myopathy Syndrome |
|
Cafe-au-lait spot, Spotty hypopigmentation |
OMIM:619719 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Periventricular Nodular Heterotopia 9 |
|
Posteriorly rotated ears, Synophrys, Microtia, High palate, Squared superior portion of helix, Hi... |
OMIM:618918 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Anteverted nares, Optic atrophy, Short nose, Sp... |
ORPHA:1185 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Optic atrophy, Protruding ear, Low-set ears, Short nose, Failure to thrive |
OMIM:617988 |
Menkes Disease |
|
Sparse hair, Bladder diverticulum, Hypopigmentation of hair, Woolly hair |
ORPHA:565 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Shawl scrotum |
ORPHA:85277 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Urinary retention, Weight loss |
OMIM:600072 |
Tetrasomy 18P |
|
Low-set, posteriorly rotated ears, Short nose, Syncope |
ORPHA:3307 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Mixed hearing impairment, Optic disc hypoplasia, Optic nerve hypoplasia, Proportionate short stat... |
ORPHA:79345 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Myocardial infarcti... |
ORPHA:99889 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta, Short stature |
ORPHA:1514 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tube morphology, ... |
ORPHA:722 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Anteverted nares, Depressed nasal bridge, Short stature, Abnormal pinna morpho... |
OMIM:244450 |
Hermansky-Pudlak Syndrome 8 |
|
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... |
OMIM:614077 |
Oculopharyngodistal Myopathy |
|
Progressive sensorineural hearing impairment, Weight loss |
ORPHA:98897 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Gastrointestinal hemorrhage,... |
ORPHA:440437 |
Peho Syndrome |
|
Short nose, Optic atrophy |
OMIM:260565 |
Progeroid Short Stature With Pigmented Nevi |
|
Hypospadias, Impaired T cell function, Short stature, Sensorineural hearing impairment, Chordee, ... |
OMIM:176690 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Ketonuria, Acute... |
ORPHA:466677 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Depressed nasal bridge, Short s... |
ORPHA:576 |
Teebi Hypertelorism Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Wide nasal bridge, Hydrocele testis, Bic... |
OMIM:145420 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Liver abscess, Abnormal fingernail morphology, Hypopigment... |
ORPHA:678 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Patent ductus arteriosus, Optic disc coloboma, Choanal stenosis, Low-set ears, ... |
ORPHA:1790 |
Marshall Syndrome |
|
Retinal detachment, Anteverted nares, Depressed nasal bridge, Short stature, Sensorineural hearin... |
ORPHA:560 |
19P13.13 Microdeletion Syndrome |
|
Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Macrotia, Optic atrophy, Low-se... |
ORPHA:357001 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Short nose, Rhizomelia, Depressed nasal ridge |
ORPHA:2831 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy |
ORPHA:26790 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Short stature, Depressed nasal ridge, Low-set ears, Intrauterine growth retardation, ... |
OMIM:300863 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Protruding ear, Growth delay, Abnormal antihelix morphology... |
ORPHA:261144 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, Lymphopenia, Dilatation of the renal pelvis, Rectovaginal fistula |
OMIM:619708 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Short stature, Highly arched eyebrow, Abnormal pinna morphology, C... |
OMIM:194190 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Congenital sensorineural hearing impairment, Sy... |
OMIM:193500 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Reticular hyperpigmentation, Hepatic necrosis, Premature grayi... |
OMIM:127550 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Short nose |
OMIM:618087 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Anteverted nares, Depressed nasal bridge, Rhizomelia, Bulbous nose, Congenital hypothyroidism, Di... |
OMIM:271510 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Depressed nasal bridge, Low-set ears, Bilateral conductive hearing impairment |
OMIM:617802 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Phakomatosis Pigmentovascularis |
|
Generalized hyperpigmentation, Hypopigmented skin patches |
ORPHA:2875 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Depressed nasal bridge, Short stature, Underfolded helix, Cryptorchidi... |
OMIM:268400 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Posteriorly r... |
ORPHA:536467 |
Atypical Werner Syndrome |
|
Premature graying of hair, Hepatic steatosis, Retinal degeneration, Renal neoplasm, Short stature... |
ORPHA:79474 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Hypercalcemia... |
ORPHA:913 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T4 concentration, Congestive heart failure, Increased circulating free... |
OMIM:275000 |
Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Hypopigmented skin patches |
ORPHA:330064 |
Short Stature With Microcephaly And Distinctive Facies |
|
Severe short stature, Small for gestational age, Anteverted nares, Depressed nasal bridge, Anisop... |
OMIM:615789 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Anteverted nares, Low-set ears, Intrauterine growth retardation, Short nose, Failure to thrive |
OMIM:219200 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Short nose, Wide nasal bridge, Obesity |
OMIM:611936 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Anemia, Prematur... |
ORPHA:3322 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Optic atrophy, Conductive hearing impairment, Short nose, Fail... |
ORPHA:561 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Optic atrophy, Hearing impairment |
OMIM:256600 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Depressed nasa... |
OMIM:616007 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short stature, Optic atrophy, Growth delay, Abnormal optic disc morphology, Low-set ears, Severe ... |
ORPHA:363417 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose, Disproportionate short-limb short stature |
OMIM:618618 |
Huntington Disease |
|
Abnormality of the sense of smell, Abnormal circulating cholesterol concentration, Decreased body... |
ORPHA:399 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Depressed nasal ridge, Low-set ears, Intrauterine growth retardation, ... |
ORPHA:163966 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Intraventricular hemorrhage, Sensorineur... |
OMIM:616430 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss |
ORPHA:99868 |
Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:66628 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Phimosis, Urinary bladder inflammation, Xerostomia, Weight loss, Hematuria, Abnorma... |
ORPHA:99921 |
Japanese Encephalitis |
|
Hyponatremia, Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the s... |
ORPHA:79139 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growth delay, Short n... |
OMIM:615803 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Short stature, Patent ductus arteriosus, Disproportionate short-trunk sho... |
ORPHA:457395 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Failure to thrive, Anteverted nares, Short stature, Posteriorly rotated ears... |
OMIM:601358 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Hypoplasia of the ovary, Decreased proportion of CD4-positive helper T ... |
ORPHA:179494 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Severe short stature, Pyloric stenosis, Pyelonephritis, Ureth... |
ORPHA:90349 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Short nose, Failure to thrive, Depressed nasal bridge, Broad columella |
OMIM:617865 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Optic atrophy, Growth delay, Keratoconjunctivitis sicca, Short nose, Macrotia |
OMIM:234050 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Posteriorly rotated ears, Long nose, Optic atrophy, Right bundle branch b... |
OMIM:618590 |
Dend Syndrome |
|
Short nose, Anteverted nares, Elevated hemoglobin A1c, Thickened ears |
ORPHA:79134 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... |
ORPHA:626 |
Cadds |
|
Cholangitis, Sensorineural hearing impairment, Cholestasis, Increased circulating very long-chain... |
ORPHA:369942 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Corpus callosum atrophy, Urinary incontinence, Urinary ur... |
OMIM:601162 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Weight loss, Lymphadenopathy, Goiter |
ORPHA:142 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Fibrochondrogenesis 1 |
|
Rhizomelia, Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Stillbirth, Low-... |
OMIM:228520 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Sensorineural hearing im... |
ORPHA:261236 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin... |
ORPHA:97287 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Anteverted nares, Short stature, Wide nasal bridge, Low-set ears, Short nose |
OMIM:614701 |
Adenylosuccinase Deficiency |
|
Growth delay, Short nose, Anteverted nares, Low-set ears |
OMIM:103050 |
Xeroderma Pigmentosum, Complementation Group C |
|
Freckling, Hypopigmentation of the skin |
OMIM:278720 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cafe-au-lait spot... |
ORPHA:364577 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Rhizomelia, Short stature, Highly arched eyebrow, Sparse eyebrow, Microtia, High palate, Hearing ... |
OMIM:143095 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Congestive heart failure, Leukocytosis, Weight loss, Hypoalbuminemia... |
ORPHA:67 |
Peho Syndrome |
|
Anteverted nares, External ear malformation, Optic atrophy, Short nose, Macrotia |
ORPHA:2836 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Vert... |
ORPHA:679 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypopro... |
ORPHA:2494 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Posteriorly rotated ears, Optic atrophy, Congenital hypothyroidism, Palmoplantar hyperhidrosis, L... |
OMIM:617527 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Postnatal growth retardation, Pyelonephritis, Protruding ear, Bladder ... |
ORPHA:90348 |
Hereditary Late-Onset Parkinson Disease |
|
Hyposmia, Spastic/hyperactive bladder, Orthostatic hypotension due to autonomic dysfunction, Weig... |
ORPHA:411602 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph... |
OMIM:619472 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... |
ORPHA:1333 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Large earlobe, Supernumerary nipple, Hypoplasia of the ear cartilage |
ORPHA:1236 |
Marshall Syndrome |
|
Retinal detachment, Anteverted nares, Depressed nasal bridge, Short stature, Sensorineural hearin... |
OMIM:154780 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Reticulocytosis, Hepatomegaly, Acanthocytosis, Hepatic fibro... |
ORPHA:14 |
Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra... |
OMIM:608710 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Short stature, Intrauterine growth retardati... |
ORPHA:1915 |
Saethre-Chotzen Syndrome |
|
Short stature, Prominent crus of helix, Low anterior hairline, Cleft palate, Narrow palate, Micro... |
OMIM:101400 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Orthostatic hypotension due to autonomic dysfunction, Abscess, Chronic kidney disease... |
ORPHA:642 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Anotia, Atresia of the external auditory canal, Small nail, Conductive hearing impairment, Stenos... |
OMIM:608257 |
Marfan Syndrome |
|
Retinal detachment, Cachexia, Congestive heart failure, Meningocele, Slender build |
ORPHA:558 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Short stature, Posteriorly rotated ears, Broad nasal tip, Wide nasal bridge, Lo... |
OMIM:618529 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Hypospadias, Renal age... |
OMIM:192350 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Stuve-Wiedemann Syndrome 1 |
|
Anteverted nares, Short stature, Hyperhidrosis, Blotching pigmentation of the skin, Low-set ears,... |
OMIM:601559 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100075 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Synophrys, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Hearing impairment |
ORPHA:90024 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Sensorineural hearing impairment, Cachexia |
ORPHA:3217 |
Liposarcoma |
|
Abnormality of the kidney, Weight loss |
ORPHA:69078 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares |
OMIM:614524 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Anteverted nares, Optic nerve hypoplasia, Proboscis, Prominent nasal bridge, Postn... |
OMIM:605627 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Premature graying of hair, Anemia, Lymphopenia, Thrombocytop... |
OMIM:620365 |
Otopalatodigital Syndrome, Type I |
|
Conductive hearing impairment, Short nose, Short stature, Wide nasal bridge |
OMIM:311300 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Agenesis of pineal gland, Anteverted nares, Optic nerve hypopl... |
ORPHA:536471 |
Chromomycosis |
|
Lymphangiectasis, Hypopigmented skin patches |
ORPHA:182 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Short stature, Impaired T cell function, Cryptorchidism, Velopharyngeal insuf... |
OMIM:192430 |
Atelosteogenesis, Type I |
|
Encephalocele, Rhizomelia, Depressed nasal bridge, Cryptorchidism, Stillbirth, Disproportionate s... |
OMIM:108720 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Short nose, Stillbirth, Disproportionate short-limb short stature |
OMIM:269250 |
Warburg-Cinotti Syndrome |
|
Retinal dystrophy, Posteriorly rotated ears, Underdeveloped nasal alae, Atresia of the external a... |
OMIM:618175 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Postnatal growth retardation, Lymphadenopathy, Neutro... |
OMIM:617827 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Optic atrophy, Hyperhidrosis... |
ORPHA:521426 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge, Short stature |
ORPHA:2835 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Prominent nasal bridge, Sensorineural hearing impairment, Hypermyelina... |
OMIM:601812 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100080 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Short nose, Supernumerary nipple |
ORPHA:457279 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:33577 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Hyperthyroidism, Increased circulating free T4 concentration, Weight loss, Hypokalem... |
OMIM:613239 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100082 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,... |
ORPHA:90003 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Depressed nasal bridge, Anteverted nares, Disproportionate short-trunk ... |
OMIM:200600 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Low-set ears, Short nose, Anteverted nares, Depressed nasal bridge |
ORPHA:314655 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Decreased prealbumin level, Right ventricular failure, Reduced ... |
ORPHA:90363 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares |
DECIPHER:52 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Short stature, Hyperlipidemia, Delayed puberty, Short nose, Convex nasal ridge, Hyper... |
ORPHA:90154 |
Hirschsprung Disease |
|
Sensorineural hearing impairment, Failure to thrive in infancy, Short stature, Weight loss |
ORPHA:388 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Thalidomide Embryopathy |
|
Abnormality of the outer ear, Anotia, Short stature, Hearing impairment |
ORPHA:3312 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97282 |
Tsh-Secreting Pituitary Adenoma |
|
Hyperhidrosis, Male hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Vertigo, Hypoka... |
ORPHA:91347 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici... |
OMIM:301074 |
Malan Syndrome |
|
Short nose |
OMIM:614753 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor, Weight loss |
ORPHA:216866 |
Somatostatinoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circ... |
ORPHA:97283 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Short nose |
OMIM:614207 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Short nose, Wide nasal bridge, Low-set ears |
OMIM:620369 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality... |
ORPHA:314478 |
Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice... |
OMIM:613471 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
Mietens Syndrome |
|
Wide nose, Short nose, Severe short stature, Wide nasal bridge |
ORPHA:2557 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Glucagonoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circ... |
ORPHA:97280 |
Epidermodysplasia Verruciformis |
|
Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:302 |
Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Atresia of the external auditory canal, Low-set ears, Sh... |
ORPHA:93259 |
Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Wide nose, Short nose, Short stature |
ORPHA:1394 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
Pfeiffer Syndrome |
|
Short nose, Choanal stenosis, Choanal atresia, Depressed nasal bridge |
OMIM:101600 |
Satoyoshi Syndrome |
|
Short stature, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno... |
ORPHA:3130 |
Grfoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circ... |
ORPHA:97261 |
Pfeiffer Syndrome Type 1 |
|
Short nose, Depressed nasal bridge, Low-set ears, Hearing impairment |
ORPHA:93258 |
Short Syndrome |
|
Sensorineural hearing impairment, Severe short stature, Wide nasal bridge, Weight loss |
ORPHA:3163 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Anteverted nares, Short stature, Congestive he... |
OMIM:231050 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Short stature, Posteriorly ro... |
ORPHA:1974 |
Rat-Bite Fever |
|
Pericarditis, Myocarditis, Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
Mend Syndrome |
|
Short stature, Prominent nasal bridge, Abnormal auditory evoked potentials, Cryptorchidism, Eleva... |
ORPHA:401973 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Anhidrosis, Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Aplasia/Hypoplastia... |
OMIM:305100 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Pituitary adeno... |
ORPHA:144 |
Brittle Cornea Syndrome 1 |
|
Red hair, Hearing impairment |
OMIM:229200 |
Holoprosencephaly 7 |
|
Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, Depressed nasal tip, Hypoplast... |
OMIM:610828 |
Ppoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circ... |
ORPHA:97278 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Short stature, Sensorineural hearing impairment, Thick nasal septum,... |
OMIM:303600 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Mitral stenosis, Tricuspid stenosis, Short stature, Mitral regurgitation, Aortic va... |
OMIM:614185 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss, Lymphadenopathy, Anemia |
ORPHA:52417 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Joint hemorrhage, Epistaxis, Cerebral hemorrhage |
OMIM:277450 |
Nocardiosis |
|
Brain abscess, Pericarditis, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss,... |
ORPHA:31204 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Retinal pigment epithelial mottling, Sensorineural hearing impairme... |
OMIM:607459 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Elev... |
ORPHA:93672 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Pemphigus Erythematosus |
|
Hypopigmented skin patches |
ORPHA:79480 |
Rheumatoid Arthritis |
|
Vasculitis, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Blomstrand Lethal Chondrodysplasia |
|
Rhizomelia, Anteverted nares, Depressed nasal bridge, Low-set ears, Short nose, Neonatal short-li... |
ORPHA:50945 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Conductive hearing impairment, Hypermelanotic mac... |
ORPHA:740 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Weight loss |
OMIM:191390 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Posteriorly rotated ears, Overfolded helix, Growth delay, Intr... |
OMIM:301044 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Growth delay, Iron deficiency anemia, Keratoconjunctivitis sicca, Exocrine pancreati... |
ORPHA:309031 |
Cap Polyposis |
|
Hematochezia, Weight loss |
ORPHA:160148 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Prominent nasal tip, Short nose |
ORPHA:522077 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Oromandibular Dystonia |
|
Abnormality of the nose, Weight loss |
ORPHA:93958 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Conjunctivitis, Short stature, Weight loss |
ORPHA:37 |
Acromesomelic Dysplasia 1 |
|
Short nose, Disproportionate short stature |
OMIM:602875 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... |
ORPHA:2388 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris, Sensorineural hearing impairment |
OMIM:122880 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Glossopharyngeal Neuralgia |
|
Ear pain, Jaw claudication, Weight loss, Syncope, Bradycardia |
ORPHA:221098 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
Omodysplasia 1 |
|
Depressed nasal bridge, Rhizomelia, Cryptorchidism, Wide nasal bridge, Disproportionate short-lim... |
OMIM:258315 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Weight loss, Conjunctivitis |
ORPHA:29207 |
1P21.3 Microdeletion Syndrome |
|
Long ear, Short nose, Obesity, Broad nasal tip |
ORPHA:293948 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Sensorineural... |
OMIM:164310 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, Disproportionate short-limb s... |
OMIM:271665 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Shor... |
OMIM:229400 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Tinnitus, Hearing impairment, Weight loss |
ORPHA:97286 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |