banner
Genes Phenotypes Help, News, Blog

Gene: Bcl2 MGI:88138

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
B cell leukemia/lymphoma 2
Synonyms:
Bcl-2,  C430015F12Rik,  D830018M01Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Bcl2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Bcl2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy ORPHA:545

The table below shows human diseases predicted to be associated to Bcl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
H Syndrome
Hypertriglyceridemia, Short stature, Abnormality of the kidney, Hearing impairment, Microcytic an... ORPHA:168569
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Decreased proportion of class-s... OMIM:615767
Familial Reactive Perforating Collagenosis
Spotty hyperpigmentation, Abnormal fingernail morphology, Chronic kidney disease, Abnormal pinna ... ORPHA:79147
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Obesity, Renal cyst, Hypo... OMIM:615982
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis... ORPHA:49041
Papillorenal Syndrome
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Short stat... OMIM:120330
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Depressed nasal bridge, Portal hypertens... OMIM:610199
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Cranial nerve ... ORPHA:52430
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Hypoalbuminemia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgita... ORPHA:505248
Dworschak-Punetha Neurodevelopmental Syndrome
Cupped ear, Unilateral renal hypoplasia, Large earlobe, Vesicoureteral reflux, Sparse lateral eye... OMIM:619955
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... OMIM:606367
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... ORPHA:412066
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... ORPHA:329918
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Renal insufficiency, Bone-marrow foam cells OMIM:256150
Axial Mesodermal Dysplasia Spectrum
Short stature, Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormalit... ORPHA:1834
Mosaic Trisomy 1
Hepatic agenesis, Depressed nasal bridge, Abnormal pinna morphology, Wide nasal bridge, Renal cor... ORPHA:1692
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Renal hypoplas... OMIM:617595
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy, Elevated circulating creatine kinase concentra... OMIM:159950
Adams-Oliver Syndrome 6
Hypoplastic toenails, Splenomegaly, Renal hypoplasia OMIM:616589
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Proteinuria, Pulsatile tinnitus, Elevated urinary norepinephrine l... ORPHA:276621
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Abnormal ... ORPHA:2470
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Optic atrophy, Renal cortical cysts OMIM:609180
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n... OMIM:105550
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the upper urinary tract, Abnormality of the urethra, Abnormal antihelix morphology... ORPHA:2145
Ring Chromosome 8 Syndrome
Anteverted nares, Abnormality of the ureter, Round ear, Short nose, Hydronephrosis ORPHA:1450
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Depressed nasal bridge, Elevated circulating creatine kinase co... ORPHA:26791
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Failure to thrive in infancy, Posteriorly rotated ears, Sparse eyeb... OMIM:618829
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Posteriorly rotated ears, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Low-set ea... OMIM:618494
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Hearing abnormality, Multicystic kidney dysplasia, Protruding ear ORPHA:3270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Polycystic kidney dysplasia, Nail dysplasia... OMIM:614091
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Woolly hair, Chronic hepatitis, Colitis, Uncombable ... OMIM:614602
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia OMIM:211890
Cenani-Lenz Syndactyly Syndrome
Anonychia, Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells OMIM:253550
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Large for gestational age, Umbilical hernia, Nephroblas... OMIM:618272
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Abnormality of the urina... ORPHA:158684
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Intrauterine growth retardation, Decreased circulatin... OMIM:620005
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Abnormal medullary pyramid morphology ORPHA:79243
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Lymphopenia, Patent ductus arteriosus after premature birth, Highly arched ... OMIM:618460
Microphthalmia, Syndromic 9
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Patent ductus arteriosus,... OMIM:601186
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphat... OMIM:616005
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Small for gestational age, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Low-set ears,... OMIM:208085
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Polyspleni... OMIM:617784
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Axonal loss OMIM:300857
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... OMIM:604484
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing e... OMIM:613502
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Sparse eyelashes, Cupped ear, Wide nasal bridge, Protruding ear, Microtia,... OMIM:616367
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Generalized hyperpigmentation, Hypospadias, Hypopigmentation of hair ORPHA:1355
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... OMIM:613095
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... OMIM:613954
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts ORPHA:3033
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Distal Limb Deficiencies-Micrognathia Syndrome
Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Cryptorchidism, Sensorineura... ORPHA:1307
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... ORPHA:464329
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Short... OMIM:266810
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproli... ORPHA:276
Diaphanospondylodysostosis
Nephrogenic rest, Depressed nasal bridge, Nephroblastomatosis, Depressed nasal ridge, Horseshoe k... OMIM:608022
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Anteverted nares, Depressed nasal bridge, Unilateral renal agenesis, Patent ... OMIM:618188
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,... OMIM:209920
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increase... ORPHA:3261
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesi... ORPHA:567
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Splenomegaly, Reduced renal corticomedullary differentiation, Cafe-au-l... OMIM:618541
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Congenital Anomalies Of Kidney And Urinary Tract 1
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
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
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
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
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, Rodríguez 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
Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Gast... ORPHA:436252
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98793
Intellectual Developmental Disorder, X-Linked 30
Anteverted nares, Prominent nasal bridge, Short stature, Short nose, Macrotia OMIM:300558
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177904
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Cryptorchidism, Wide nasal bridge, Short nose, Hypoplastic female external geni... OMIM:618577
Angelman Syndrome
Protruding tongue, Blue irides, Macroglossia, Fair hair, Hypopigmentation of the skin OMIM:105830
Angelman Syndrome
Abnormality of the gastrointestinal tract, Protruding tongue, Gastroesophageal reflux, Dysphagia,... ORPHA:72
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Abnormal ear morphology, Hypospadias, Horseshoe kidney... ORPHA:1708
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Anteverted nares, Prominent nasal bridge, Ectopic kidney, Short stature, Cryptorchid... ORPHA:3063
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Curly eyelashes, Postnatal growth retardation, Rhizo-meso-acromelic limb shortening, Microtia, Di... OMIM:611717
Mercury Poisoning
Acute kidney injury ORPHA:330021
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177901
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hematuria ORPHA:761
Acromicric Dysplasia
Bulbous nose, Short nose, Severe short stature, Anteverted nares ORPHA:969
Chylomicron Retention Disease
Acanthocytosis, Increased hepatocellular lipid droplets, Growth delay, Steatorrhea, Fat malabsorp... ORPHA:71
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia OMIM:230800
Cebalid Syndrome
Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, De... OMIM:618774
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Toriello-Carey Syndrome
Aganglionic megacolon, Short stature, Abnormal pinna morphology, Postnatal growth retardation, Cr... ORPHA:3338
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Opsismodysplasia
Anteverted nares, Depressed nasal bridge, Rhizomelia, Posteriorly rotated ears, Renal phosphate w... OMIM:258480
Van Esch-O'Driscoll Syndrome
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
Hepatomegaly, Depressed nasal bridge, Posteriorly rotated ears, Precocious puberty, Obesity, Hepa... OMIM:301066
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Hydrocele testis, Microtia, Aganglionic megacolon, Low-set ears OMIM:613603
Cerebrocostomandibular Syndrome
Conductive hearing impairment, Multicystic kidney dysplasia, Atresia of the external auditory canal ORPHA:1393
Lacrimoauriculodentodigital Syndrome 1
Mixed hearing impairment, Renal agenesis, Absence of Stensen duct, Hearing impairment, Aplasia of... OMIM:149730
Cranioectodermal Dysplasia 1
Slow-growing hair, Thin nail, Short nail, Renal magnesium wasting, Chronic kidney disease, Stage ... OMIM:218330
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Increased ... ORPHA:77259
Acrocallosal Syndrome
Failure to thrive, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Postnatal gr... OMIM:200990
Neurooculorenal Syndrome
Hypoplasia of the bladder, Ectopic posterior pituitary, Mixed hearing impairment, Unilateral rena... OMIM:620305
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Hypermelanotic macule, Flat nasal alae, ... ORPHA:910
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Hyperpigmentation of the skin, Abnormal retinal va... ORPHA:90340
Abetalipoproteinemia
Fat malabsorption, Acanthocytosis OMIM:200100
Rothmund-Thomson Syndrome
Aplastic anemia, Short stature, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyp... ORPHA:2909
Parietal Foramina With Cleidocranial Dysplasia
Microtia OMIM:168550
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Retinal detachment, Depressed nasal bridge, Short stature, Posteriorly rotated ears, Optic atroph... OMIM:619833
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
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
Postnatal growth retardation, Microtia, Dysphagia, Hepatoblastoma, Frontal hirsutism ORPHA:254519
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Short stature, Cachexia ORPHA:52503
Tetrasomy 9P
Glue ear, Biliary atresia, Intrauterine growth retardation, Micropenis, Absent gallbladder, Abnor... ORPHA:3310
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Sensorineural hearing impai... ORPHA:53271
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Abnormal pinna morphology, Renal hypoplasia/aplasia, Cryptorchidism, Re... OMIM:309800
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a... ORPHA:97214
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,... OMIM:603553
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Chondritis of pinna, Vertigo, Sensori... ORPHA:728
Congenital Disorder Of Glycosylation, Type Iu
Short nose, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:615042
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Short stature, Abnormality of the kidney, Heari... ORPHA:201
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Extra concha fold, Hearing impairment, Sparse eyebrow, Cryptorch... OMIM:209885
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, High, narrow palate, Sensorineural hearing impairment, Hypopigmented sk... ORPHA:3214
Aarskog-Scott Syndrome
Anteverted nares, Short stature, Elevated circulating luteinizing hormone level, Bilateral crypto... OMIM:305400
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Kabuki Syndrome 1
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
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Metachromatic Leukodystrophy
Urinary incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallblad... ORPHA:512
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Weight loss, R... ORPHA:99885
Cowden Syndrome 1
Hyperthyroidism, Hearing impairment, Thyroiditis, Angioid streaks of the fundus, Decreased circul... OMIM:158350
Pancreatic Lipase Deficiency
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
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
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp... ORPHA:199299
Edinburgh Malformation Syndrome
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
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma, Decreased circulating antibody level ORPHA:1116
Developmental And Epileptic Encephalopathy 75
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Cardiomyopathy, Prolonged ... OMIM:618437
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
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
Bulbous nose, Wide nasal bridge, Mild short stature, Short nose, Macrotia OMIM:620292
Ring Chromosome 13 Syndrome
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Abnormal retinal morphology, Anteverte... ORPHA:96176
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Short nose, Anteverted nares, Depressed nasal bridge OMIM:613443
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
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
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

Histopathology

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

There is no histopathology data for Bcl2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bcl2.

No publications found that use IMPC mice or data for Bcl2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Bcl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter