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Gene: Id2 MGI:96397

Gene Summary

Name:

inhibitor of DNA binding 2

Synonyms:

inhibitor of differentiation 2, Idb2, bHLHb26, C78922

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased blood urea nitrogen level		Id2^{tm2b(EUCOMM)Wtsi}	HET		Early adult	2.99×10^-05
increased circulating creatinine level		Id2^{tm2b(EUCOMM)Wtsi}	HET		Early adult	4.46×10^-10

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lacZ Expression

Expression data not available

Associated Images

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

Legacy Phenotype Associated Images

Id2^{tm2a(EUCOMM)Wtsi}
WT, Female, WTSI

View all 25 images

Human diseases caused by Id2 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.

Human diseases associated with Id2 (0 diseases)
Human diseases predicted to be associated with Id2 (1096 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Id2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Hirsutism, Polycystic ov...	ORPHA:2795
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 54	Reduced natural killer cell count, Postnatal growth retardation, Intrauterine growth retardation,...	OMIM:609981
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Visceral Myopathy 1	Microcolon, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Megaduodenum, Vesicoure...	OMIM:155310
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Anemia, Enterocol...	OMIM:616050
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Immunodeficiency 76	Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, Colitis, T lym...	OMIM:619164
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Colon cancer, Hepatocellular carcinoma, Hepa...	ORPHA:158057
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,...	ORPHA:79124
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Spastic Paraplegia 9B, Autosomal Recessive	Growth delay, Urinary retention, Pseudobulbar paralysis, Urinary incontinence, Short stature	OMIM:616586
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Porphyria, Acute Intermittent	Urinary retention, Paralytic ileus, Reduced erythrocyte porphobilinogen deaminase activity, Urina...	OMIM:176000
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Bifid uvula, Abnormality of the urinary system	ORPHA:2669
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Villous a...	OMIM:619510
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:611926
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication	ORPHA:147
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Macdermot-Winter Syndrome	Highly arched eyebrow, Intrauterine growth retardation, Frontal upsweep of hair, Low anterior hai...	OMIM:247990
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Perianal abscess, Gastrit...	OMIM:618108
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Alpha-Heavy Chain Disease	Alopecia, Abnormal small intestine morphology, Splenomegaly, Lymphadenopathy, Anemia, Growth delay	ORPHA:100025
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Fatal Familial Insomnia	Hyperhidrosis, Dysphagia, Urinary retention	OMIM:600072
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma	ORPHA:99976
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the gastrointestinal tract, Functional abnormality of the bladder	ORPHA:100997
Iatrogenic Botulism	Dysphagia, Xerostomia, Urinary retention	ORPHA:254509
Ring Chromosome 8 Syndrome	Low posterior hairline, Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 15B	Reduced natural killer cell count, Death in infancy, Monocytosis	OMIM:615592
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope...	ORPHA:444463
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Acute Intermittent Porphyria	Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinogen, Renal i...	ORPHA:79276
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Immunodeficiency 48	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Foix-Alajouanine Syndrome	Functional abnormality of the bladder, Urinary retention, Male sexual dysfunction, Female sexual ...	ORPHA:79093
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 102	Reduced natural killer cell count, Increased proportion of CD8-positive, alpha-beta TEMRA T cells...	OMIM:301082
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Cat-Eye Syndrome	Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Short st...	ORPHA:195
Adrenomyeloneuropathy	Frontal balding, Male sexual dysfunction, Female sexual dysfunction, Fine hair, Urinary retention...	ORPHA:139399
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Botulism	Dysphagia, Xerostomia, Urinary retention	ORPHA:1267
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Cellulitis, Splenomegaly, Increased proportion of transitional B cells, Decreased proportion of c...	OMIM:615513
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Pulmonary Blastoma	Weight loss	ORPHA:64741
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent ur...	ORPHA:79404
Immunodeficiency 104	T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Wound Botulism	Dysphagia, Urinary retention	ORPHA:178475
Foodborne Botulism	Dysphagia, Xerostomia, Urinary retention	ORPHA:228371
Spinal Cord Injury	Paralytic ileus, Urinary retention, Urinary bladder sphincter dysfunction	ORPHA:90058
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Anemia,...	OMIM:613824
Inhalational Botulism	Xerostomia, Urinary retention	ORPHA:254504
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Short stature, Prematur...	ORPHA:3156
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Gastroeso...	ORPHA:443811
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Image Syndrome	Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Hypospadias	ORPHA:85173
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Gastroesophageal reflux, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesi...	OMIM:191800
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr...	OMIM:236730
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Autosomal Recessive Spastic Paraplegia Type 9B	Short stature, Pollakisuria, Urinary retention, Growth delay	ORPHA:447760
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastroesophageal reflux, Urinary retention, Gastrointestinal dysmotility, Neutropenia, Anhidrosis...	OMIM:617799
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Dry hair, Hydroureter, Urinary retention, Gastroesop...	ORPHA:90324
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Cryptorchidism, Hydronephrosis, Renal cyst, Rectal atresia, Short...	OMIM:613390
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper...	OMIM:619902
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell	ORPHA:1135
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal...	OMIM:300048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Colon cancer, Papillary renal cell carcinoma, Chronic non...	ORPHA:97290
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the ureter, Abnormalit...	ORPHA:1834
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, High palate, Vesicoureteral reflux, Short stature	ORPHA:85285
Huntington Disease-Like 2	Gait disturbance, Weight loss	ORPHA:98934
Nephronophthisis 19	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Splenomegaly, Renal int...	OMIM:616217
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Anosmia, Hyposmia, Agenesis of corpus callosum	OMIM:147950
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy	OMIM:618852
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Solitary Fibrous Tumor	Neoplasm of the liver, Urinary retention	ORPHA:2126
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Mast Cell Sarcoma	Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:66661
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary retention, Recurrent urinary tract infections, Erectile dysfunction, Dysphagia, Anhidrosi...	ORPHA:99027
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ...	OMIM:256100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Nephronophthisis 4	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:606966
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Hydrolethalus	Anencephaly, Hydrocephalus, Abnormality of the sense of smell, Agenesis of corpus callosum	ORPHA:2189
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Bifid nose, Anosmia, Hyposmia	OMIM:614838
Musk, Inability To Smell	Anosmia	OMIM:254150
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Cryptorchidism, ...	ORPHA:2704
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk...	OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Intrauterine growth retardation, Leuko...	OMIM:615190
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia	OMIM:613724
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Congenital Myopathy 19	Renal atrophy, Cryptorchidism, Hydronephrosis, High palate, Dysphagia	OMIM:618578
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Protruding tongue, Short stature, Macroglossia, T lymphocytopenia	OMIM:242860
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Neutropenia, High palate	OMIM:619752
8P23.1 Duplication Syndrome	Hydronephrosis, Highly arched eyebrow, Adrenal insufficiency	ORPHA:251076
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Thrombocytopenia, Neutro...	OMIM:598500
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Hydronephrosis, Abnorm...	ORPHA:873
Idiopathic Achalasia	Weight loss	ORPHA:930
Juvenile Huntington Disease	Broad-based gait, Gait ataxia, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia	ORPHA:248111
Wolfram Syndrome 1	Hydroureter, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bladder, Megaloblas...	OMIM:222300
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Goiter, Papillary renal cell carcinoma, Chronic noninfectious lym...	ORPHA:319487
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Acute Transverse Myelitis	Urinary retention, Priapism, Urinary bladder sphincter dysfunction, Abscess, Paralytic ileus, Abn...	ORPHA:139417
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Short nasal septum, Short nose	OMIM:302950
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Granuloma, Anal fissure, Lymphopenia, Hepatosplenomegaly, H...	OMIM:618935
Prune Belly Syndrome	Xerostomia, Hydroureter, Cryptorchidism, Hydronephrosis, Anal atresia, Congenital posterior ureth...	OMIM:100100
Tetraploidy	Aplasia/Hypoplasia of the thymus, Intrauterine growth retardation, Renal hypoplasia/aplasia, Hydr...	ORPHA:3305
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy	ORPHA:100024
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Hypertrichosis, Intrauterine growth retardat...	ORPHA:97297
Thyrotoxic Periodic Paralysis	Graves disease, Urinary retention, Decreased urinary potassium, Hyperhidrosis, Hyperthyroidism, T...	ORPHA:79102
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss	ORPHA:30925
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci...	ORPHA:231111
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Body Mass Index Quantitative Trait Locus 19	Anosmia, Hyposmia	OMIM:617885
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Nephronophthisis 15	Nephronophthisis	OMIM:614845
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia	OMIM:603552
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:612702
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Fair hair, Enlarged platelet dense gr...	OMIM:608233
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:610628
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Solitary Median Maxillary Central Incisor	Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx morphology, Holoprosencephaly, ...	OMIM:147250
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Orofaciodigital Syndrome Xv	Hydronephrosis, Lobulated tongue	OMIM:617127
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Hydron...	ORPHA:210122
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Re...	ORPHA:2973
Bardet-Biedl Syndrome 19	Hypogonadism, Renal hypoplasia, Hydronephrosis, Renal insufficiency	OMIM:615996
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Intrauterine growth retardation, Abnormal renal corticomedullary di...	OMIM:616733
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Decreased proportion of CD4-positive helper...	OMIM:243700
Camurati-Engelmann Disease	Urinary retention, Hypogonadism, Leukopenia, Splenomegaly, Delayed puberty, Anemia	ORPHA:1328
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Intrauterine g...	OMIM:243150
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Reduced natural killer cell count, Gastroesophageal reflux, Recurrent ...	ORPHA:221139
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Horizontal eyebrow, Decreased response to growth hormone stimulation t...	OMIM:609757
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Huntington Disease-Like 2	Bradykinesia, Weight loss	OMIM:606438
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss, Ataxia	OMIM:613662
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Postnatal growth retarda...	ORPHA:1655
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Peroxisome Biogenesis Disorder 9B	Anosmia, Total anosmia	OMIM:614879
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency, Short stature	ORPHA:474
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Villous atrophy, Decreased proportion of ...	OMIM:619381
Distal Duplication 6P	Renal hypoplasia, Abnormality of the urinary system, Fine hair, Intrauterine growth retardation, ...	ORPHA:1745
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ...	OMIM:619350
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention, Rectal abscess	OMIM:600145
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Na...	ORPHA:79403
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:244200
Parkes Weber Syndrome	Nephrotic syndrome, Abnormality of the urinary system, Urinary retention, Abnormal lymphatic vess...	ORPHA:90307
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ...	OMIM:613550
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Webb-Dattani Syndrome	Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Vesicoureteral re...	OMIM:615926
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Postnatal growth retardation, Cryptorchidism, Hydronephrosis, Gastroi...	ORPHA:531151
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:545
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Low poste...	OMIM:220210
Johanson-Blizzard Syndrome	Alopecia, Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrauterine growth retardat...	ORPHA:2315
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Cryptorchidism, Low posterior hairline, Hydronephrosis, Growth delay	OMIM:179613
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hyperostosis Cranialis Interna	Anosmia, Hyposmia	OMIM:144755
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp...	OMIM:223360
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Intrauterine growth retardation, Reduced renal corticomedullary differentiation, Splenomegaly, Sh...	OMIM:618541
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Cellulitis, Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hep...	OMIM:618986
Trisomy 17P	High anterior hairline, Growth delay, Intrauterine growth retardation, Low posterior hairline, Br...	ORPHA:261290
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Renal agenesis, Volvulus, Horseshoe kidney, Intestinal malrot...	OMIM:115470
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Postnatal growth retardation, Vesicoureteral reflux, Nephrolithiasis, Pyloric stenosis	OMIM:617219
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Malakoplakia	Urinary bladder inflammation, Abnormality of the menstrual cycle, Neoplasm of the colon, Urinary ...	ORPHA:556
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, ...	OMIM:612541
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ...	OMIM:263200
Chronic Hiccup	Weight loss	ORPHA:396
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Anemia, Hypothyroidism...	OMIM:304790
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Hydronephrosis, Micropenis, High palate, Sparse hair, ...	OMIM:619185
Huntington Disease	Abnormality of the sense of smell	ORPHA:399
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hypertrichosis, Pancreatic lymphangiectasis, Cryptorchidism, Splenome...	OMIM:235255
Joubert Syndrome 35	Renal fibrosis, Highly arched eyebrow, Multicystic kidney dysplasia, Recurrent urinary tract infe...	OMIM:618161
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Short stature, Splenomegaly	OMIM:615630
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:229070
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Intrauterine growth retardation, Leukopenia, Vesicoureteral reflux, Cryptorchidism, H...	OMIM:301056
Isaacs Syndrome	Weight loss	ORPHA:84142
22Q11.2 Duplication Syndrome	Aplasia/Hypoplasia of the thymus, Displacement of the urethral meatus, Hydronephrosis, Growth del...	ORPHA:1727
Selective Igm Deficiency	Cellulitis, Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Fasci...	ORPHA:331235
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the rectum, Neoplasm of the liver, Anal canal squ...	ORPHA:424019
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux, Short stature, Cleft palate	OMIM:618265
Hypogonadotropic Hypogonadism 27 Without Anosmia	Anosmia	OMIM:619755
Central Diabetes Insipidus	Lethargy, Weight loss, Failure to thrive	ORPHA:178029
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis, Frontal upsweep of hair, Cryptorchidism	OMIM:619797
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Narrow palate, Intestinal lymphangiectasia, Horseshoe kidney, Vesicou...	OMIM:235510
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperpl...	OMIM:603909
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis	OMIM:619431
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Anteri...	OMIM:618494
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Anorectal anomaly, Intr...	ORPHA:887
Spinocerebellar Ataxia 48	Cachexia, Gait ataxia, Dysmetria, Ataxia	OMIM:618093
Feingold Syndrome Type 1	Nephritis, Duodenal atresia, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Jejuna...	ORPHA:391641
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Cryptorchidism, Renal hypoplasia/aplasia, Ur...	ORPHA:2473
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Wide nasal bridge, Anosmia	OMIM:210745
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Lacticaciduria	OMIM:619063
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Indifference To Pain, Congenital, Autosomal Recessive	Anosmia, Hyposmia	OMIM:243000
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lipodystrophy, Lymphadenopathy, Thrombocytopenia, B lymph...	OMIM:618048
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia	OMIM:614880
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ...	ORPHA:37202
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Highly arched eyebrow, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Abnormal ...	ORPHA:2083
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD...	ORPHA:331206
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Mulibrey Nanism	Cachexia	ORPHA:2576
Koolen-De Vries Syndrome	High, narrow palate, Narrow palate, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hyd...	ORPHA:96169
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Sparse ...	ORPHA:634
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Duodenal stenosis, Horseshoe kidney, Intrauterine growth reta...	ORPHA:2470
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:614897
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Decreased response to growth hormone stimulation test, ...	OMIM:602152
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Hypercalcemia, Infantile, 1	Lethargy, Weight loss, Failure to thrive	OMIM:143880
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Hydronephrosis, Short stature, G...	ORPHA:457193
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology	OMIM:613502
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
3C Syndrome	High, narrow palate, Gastroesophageal reflux, Intestinal malrotation, Postnatal growth retardatio...	ORPHA:7
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Giant platelets, Postnatal growth retardation, Intrauterine growth retardation, Renal...	OMIM:611209
Multiple Osteochondromas	Short stature, Dysphagia, Urinary retention, Intestinal obstruction	ORPHA:321
Senior-Loken Syndrome 9	Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis	OMIM:616629
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Trisomy 13	High, narrow palate, Abnormality of the ureter, Intrauterine growth retardation, Cryptorchidism, ...	ORPHA:3378
Ciliary Dyskinesia, Primary, 1	Anosmia, Communicating hydrocephalus, Nasal polyposis, Chronic rhinitis	OMIM:244400
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Intrauterine growth retardation, Hepatosplenomegaly, Esophagitis, Hydronephrosis, Duplicated coll...	ORPHA:541423
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Cryptorchidism, Splenomegaly, Low anterior hairline, ...	OMIM:618440
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Suleiman-El-Hattab Syndrome	Highly arched eyebrow, Thick eyebrow, Cryptorchidism, Hirsutism, Hydronephrosis, Frontal hirsutis...	OMIM:618950
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Tracheoesophageal fistula, Urethral atresia, Esophageal atresia, Anal atresia, En...	OMIM:314390
Stromme Syndrome	Accessory spleen, Bilateral renal hypoplasia, Intestinal malrotation, Jejunal atresia, Hydronephr...	OMIM:243605
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Cyclic Neutropenia	Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Per...	ORPHA:2686
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,...	ORPHA:54251
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Proteinuria, Abnormality of the gastrointestinal tract...	ORPHA:439232
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Microcolon, Hydroureter, Fetal megacystis	OMIM:619362
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Dysuria, Unilateral renal hypoplasia, Renal insufficiency...	ORPHA:49041
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Abnormal nostril morphology, Short nose	ORPHA:1295
Proteasome-Associated Autoinflammatory Syndrome 4	Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Flexion co...	OMIM:619183
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Kury-Isidor Syndrome	Alopecia, Hypertrichosis, Hydronephrosis, High palate, Growth delay	OMIM:619762
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Tetrasomy 15Q26	Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, High palate	OMIM:614846
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis, High palate, Cleft palate	OMIM:602418
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis, Tracheoesophageal fistul...	OMIM:620511
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Frontal upsweep of hair, Cryptorchidism, Hydronephrosis, Gastrointestinal...	OMIM:617798
Pyruvate Dehydrogenase E1-Alpha Deficiency	Intrauterine growth retardation, Gastroesophageal reflux, Abnormal medullary pyramid morphology	ORPHA:79243
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Fryns Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Vesicoureteral ref...	ORPHA:2059
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Frontal balding, Decreased circulating T4 concentrat...	ORPHA:64
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lipodystrophy, Lymphadenopathy, Neutr...	OMIM:617099
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia	OMIM:615387
Kleine-Levin Syndrome	Parosmia	ORPHA:33543
Kleefstra Syndrome	Highly arched eyebrow, Pyloric stenosis, Gastroesophageal reflux, Supernumerary nipple, Renal ins...	ORPHA:261494
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Hypogonadism, Decreased testicular size, Postnatal growth retardation, Intra...	OMIM:612513
Diabetic Embryopathy	Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, Micropenis, Ureteral duplication, Cleft...	ORPHA:1926
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m...	ORPHA:98848
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney, Short stature, Cryptorchidism	ORPHA:1920
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Schnitzler Syndrome	Anemia, Leukocytosis, Splenomegaly, Lymphadenopathy	ORPHA:37748
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Short stature	OMIM:620141
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Hypoplastic nipples, Trache...	ORPHA:2437
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Prostatitis, Abnormality of the ant...	ORPHA:449395
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Zellweger Syndrome	Multicystic kidney dysplasia, Primary adrenal insufficiency, Cryptorchidism, Hydronephrosis, Shor...	ORPHA:912
Bardet-Biedl Syndrome 17	Anosmia, Hyposmia	OMIM:615994
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Hypertrichosis, Intrauterine growth retardation, Splenomegaly, Protrudin...	OMIM:608779
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Septo-Optic Dysplasia Spectrum	Anosmia, Agenesis of corpus callosum	ORPHA:3157
Mosaic Trisomy 9	Horseshoe kidney, Intestinal malrotation, Intrauterine growth retardation, Cryptorchidism, Hydron...	ORPHA:99776
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Sparse eyelashes, Hydronephrosis, Severe postnatal growth retardatio...	ORPHA:35173
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Immunodeficiency 9	Hypoplasia of the thymus, Lymphopenia, Death in infancy, Abnormal natural killer cell count	OMIM:612782
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Hemolytic anemia, Hematuria, Proteinuria, Lymphadenopathy, C...	OMIM:614034
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Igg4-Related Aortitis	Hydronephrosis, Hypereosinophilia, Intestinal obstruction	ORPHA:449400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Micro Syndrome	Intrauterine growth retardation, Cryptorchidism, Generalized hirsutism, Hydronephrosis, Delayed p...	ORPHA:2510
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Johnson Neuroectodermal Syndrome	Choanal atresia, Anosmia, Bulbous nose	ORPHA:2316
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R...	ORPHA:139466
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Nephroblastoma...	ORPHA:314588
Baller-Gerold Syndrome	Anteriorly placed anus, Abnormality of the ureter, Intrauterine growth retardation, Vesicouretera...	ORPHA:1225
Oculopharyngodistal Myopathy	Difficulty walking, Weight loss, Loss of ambulation	ORPHA:98897
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, Lymphangiectasis, ...	OMIM:602579
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Lymphadenopathy, Thromboc...	ORPHA:507
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Renal artery stenosis...	OMIM:617913
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, High palate, Growth delay, Cleft palate	ORPHA:488613
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia, Abnormal ...	ORPHA:158061
Zaki Syndrome	Sparse eyebrow, Renal agenesis, Sparse lateral eyebrow, Hydronephrosis, Short stature, High palat...	OMIM:619648
Microphthalmia, Syndromic 9	Severe short stature, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Intrauterine gro...	OMIM:601186
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Renal insufficiency, Vesicoureteral reflux, Hy...	ORPHA:2237
Mesomelia-Synostoses Syndrome	High, narrow palate, Aplasia/Hypoplasia of the uvula, Abnormal eyebrow morphology, Hydronephrosis...	ORPHA:2496
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ...	ORPHA:49
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Duplicated co...	OMIM:604292
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Joubert Syndrome 3	Highly arched eyebrow, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Alexander Disease Type I	Cachexia, Failure to thrive, Ataxia	ORPHA:363717
Alg1-Cdg	Protein-losing enteropathy, Renal insufficiency, Abnormality of the gastrointestinal tract, Abnor...	ORPHA:79327
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Renal hypoplasia, Trichiasis, Lymphopenia, Intrauterine growth retardation...	OMIM:618460
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Cryptorchidism	OMIM:618060
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia	ORPHA:79477
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Eec Syndrome	Sparse eyebrow, Coarse hair, Xerostomia, Fine hair, Decreased response to growth hormone stimulat...	ORPHA:1896
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Gait disturbance	ORPHA:157973
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Kufor-Rakeb Syndrome	Anosmia, Hyposmia	OMIM:606693
Pfeiffer Syndrome Type 3	Horseshoe kidney, Intestinal malrotation, Vesicoureteral reflux, Hydronephrosis, High palate, Ana...	ORPHA:93260
Ileal Neuroendocrine Tumor	Intestinal fistula, Zollinger-Ellison syndrome, Hydronephrosis, Small intestine carcinoid, Iron d...	ORPHA:100078
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Castleman Disease	Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Intestinal obstruction, Hematu...	ORPHA:160
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Hydronephrosis, Micropenis, Narrow palate, Short stature	ORPHA:364028
Odontochondrodysplasia 1	Short stature, Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, B lymphocytopenia	ORPHA:397596
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Hardikar Syndrome	Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral cleft palate, Celiac disease, Bil...	OMIM:301068
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Curly h...	OMIM:610733
Huntington Disease-Like 1	Gait ataxia, Dysmetria, Weight loss, Gait disturbance, Bradykinesia	ORPHA:157941
Moynahan Syndrome	Cachexia	ORPHA:2574
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Hydronephrosis, Micropenis, Hypospadias, Cleft palate	OMIM:616897
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,...	OMIM:616100
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Premature graying of hair, Intrauterine growth reta...	ORPHA:1297
Immunodeficiency 31C	Protein-losing enteropathy, Lymphopenia, Villous atrophy, Splenomegaly, Autoimmune hemolytic anem...	OMIM:614162
Secondary Short Bowel Syndrome	Central hypothyroidism, Volvulus, Villous atrophy, Abnormal small intestine morphology, Primary h...	ORPHA:95427
Tarp Syndrome	Meckel diverticulum, Horseshoe kidney, Intrauterine growth retardation, Hydronephrosis, High pala...	OMIM:311900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculat...	OMIM:614080
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Intrauterine growth retardation, Recurrent inf...	OMIM:251260
Trisomy 20P	Highly arched eyebrow, Abnormal localization of kidney, Coarse hair, Abnormality of the ureter, T...	ORPHA:261318
Refsum Disease, Classic	Anosmia	OMIM:266500
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Volvulus, Recurrent urinary tract infections, Cryptorchidism, Abnormal h...	ORPHA:847
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:308700
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ...	OMIM:611376
ERI1-related disease	Velopharyngeal insufficiency, Intrauterine growth retardation, Vesicoureteral reflux, Low anterio...	OMIM:608739
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy	OMIM:615863
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Trisomy 1Q	Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Anal atresia, Congenital megaureter...	ORPHA:261344
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Abnormal spleen phys...	ORPHA:398063
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, High palate, Short stature, Fine hair	ORPHA:3079
Pallister-Hall Syndrome	Cryptorchidism, Micropenis, Anal atresia, Ectopic kidney, Renal dysplasia, Hydroureter, Decreased...	OMIM:146510
Holoprosencephaly	Choanal atresia, Depressed nasal ridge, Spinal dysraphism, Anosmia, Aplasia/Hypoplasia involving ...	ORPHA:2162
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ...	OMIM:615237
Marden-Walker Syndrome	Abnormal penis morphology, Severe short stature, Multicystic kidney dysplasia, Abnormality of the...	ORPHA:2461
Arima Syndrome	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, ...	OMIM:243910
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy	OMIM:615122
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, Growth delay, Renal agenesis, HbH hemoglobin, Postnatal growth retardati...	OMIM:301040
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Premature graying of hair, Hepatosplenomegaly,...	OMIM:619488
Dubowitz Syndrome	Anal stenosis, Sparse lateral eyebrow, Fine hair, Postnatal growth retardation, Intrauterine grow...	ORPHA:235
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Elbow flexion contracture, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosino...	ORPHA:508533
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Lipodystrophy, Lymphadenopathy, Thrombocytopenia, Anemia, Flexion cont...	OMIM:617591
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:601346
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Splenomeg...	OMIM:614700
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Carpenter Syndrome 1	Hydroureter, Polysplenia, Cryptorchidism, Hydronephrosis, Short stature, High palate	OMIM:201000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Hypertrichosis, Abnormality of thyroid physiology, Hydronephrosis, Unilateral breast...	OMIM:300968
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Duplicated colon, Anteriorly placed an...	OMIM:258040
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, D...	OMIM:606367
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Multicystic kidney dysplasia, Fine hair, Supernumerary nipple, Hypogonadism, Decr...	ORPHA:261349
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Functional abnormality of the bladder, Lymphopenia, Hepatosplenomegaly, Ren...	ORPHA:391487
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Bifid uvula, Anteriorly placed anus, Supernumerary nipple, Hydronephrosis,...	ORPHA:247262
Congenital Toxoplasmosis	Anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:858
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Hydronephrosis, Short stature, High pala...	ORPHA:1358
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma	ORPHA:654
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Multicystic kidney dysplasia, Unilateral renal agenesis, R...	OMIM:614527
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Gait disturbance, Weight loss, Tip-toe gait	ORPHA:216866
8Q21.11 Microdeletion Syndrome	Underdeveloped nasal alae, Abnormality of the sense of smell, Wide nose	ORPHA:284160
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Pure Autonomic Failure	Dysuria, Urinary incontinence, Impotence, Anhidrosis	ORPHA:441
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level	ORPHA:103907
Perry Syndrome	Short stepped shuffling gait, Bradykinesia, Weight loss, Akinesia	OMIM:168605
Cold Agglutinin Disease	Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Fryns Syndrome	Ectopic pancreatic tissue, Meckel diverticulum, Renal agenesis, Polysplenia, Intestinal malrotati...	OMIM:229850
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Functional abnormality of the bladder, Horseshoe kidney, Cryptorchidi...	ORPHA:2953
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Protruding tongue, Prominent eyelashes, Short stature	OMIM:619179
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Hypersplenism, Hepatoblastoma, Polycystic kidney dysplasia, Esophageal varix,...	ORPHA:731
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux	OMIM:613735
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Focal Myositis	Weight loss	ORPHA:48918
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Vater/Vacterl Association	Renal agenesis, Postnatal growth retardation, Intrauterine growth retardation, Vesicoureteral ref...	OMIM:192350
Koolen-De Vries Syndrome	Narrow palate, Fair hair, Recurrent urinary tract infections, Intrauterine growth retardation, Ve...	OMIM:610443
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux	OMIM:619217
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Intrauterine growth retardat...	OMIM:300707
Reticular Dysgenesis	Weight loss, Failure to thrive	ORPHA:33355
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Polyendocrine-Polyneuropathy Syndrome	Abnormality of the sense of smell	OMIM:616113
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Throm...	ORPHA:100026
Genitopatellar Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Fine hair, Cryptorchidism, Hydronephrosis,...	ORPHA:85201
Kallmann Syndrome With Spastic Paraplegia	Anosmia	OMIM:308750
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Gastroesophageal reflux, Furrowed tongue, Intrauterine growth retardation, Vesicoure...	ORPHA:453499
Refsum Disease	Anosmia	ORPHA:773
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Multiple bladder diverticula, Gastroesophageal reflux, Hydronephrosis, Hypoplas...	OMIM:613177
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Gastroesophageal reflux, Breast hypoplasia, Intrauterine ...	ORPHA:464306
Gorlin Syndrome	Wide nasal bridge, Hydrocephalus, Abnormality of the sense of smell	ORPHA:377
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Pancytopenia, Distal renal tubular acidosis, Elliptocytosis, Renal t...	ORPHA:2785
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Basel-Vanagaite-Smirin-Yosef Syndrome	Gastroesophageal reflux, Furrowed tongue, Hydronephrosis, High palate, Sparse hair, Hypospadias, ...	OMIM:616449
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Duplicated co...	OMIM:129900
Cornelia De Lange Syndrome 1	Cryptorchidism, Low posterior hairline, High palate, Ectopic kidney, Hypospadias, High, narrow pa...	OMIM:122470
Kabuki Syndrome 1	Anoperineal fistula, Postnatal growth retardation, Cryptorchidism, Anal atresia, High palate, Aut...	OMIM:147920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Pelvis-Shoulder Dysplasia	Microglossia, Facial hirsutism, Mesomelic/rhizomelic limb shortening, Hydronephrosis, Neonatal sh...	ORPHA:2839
Jacobsen Syndrome	Bone marrow hypocellularity, Multicystic kidney dysplasia, Annular pancreas, Intestinal malrotati...	ORPHA:2308
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Abnormality of the gastroin...	ORPHA:2070
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, Splenomegaly, Submucous cleft hard palate, Absent eyelashes, Low posteri...	OMIM:115150
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Duane-Radial Ray Syndrome	Renal hypoplasia, Anal stenosis, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, V...	OMIM:607323
Tarp Syndrome	Extramedullary hematopoiesis, Horseshoe kidney, Intrauterine growth retardation, Thick eyebrow, C...	ORPHA:2886
Autosomal Recessive Spastic Paraplegia Type 20	Growth delay, Dysuria, Hydronephrosis, Short stature, Dysphagia	ORPHA:101000
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Thakker-Donnai Syndrome	Intrauterine growth retardation, Hydronephrosis, Tracheoesophageal fistula, Anal atresia, Rectova...	ORPHA:1780
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit...	OMIM:600740
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Cryptorchidism, Hydronephrosis, Aganglionic megacolon, Anal a...	OMIM:236700
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Intrauterine growth retardation, Cryptorchidism	OMIM:620327
Mosaic Trisomy 8	Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Short stature, ...	ORPHA:96061
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Duodenal atresia, Intrauterine g...	ORPHA:464311
Holocarboxylase Synthetase Deficiency	Lethargy, Weight loss, Ataxia	ORPHA:79242
Okamoto Syndrome	Facial hypertrichosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Anal stenosis, ...	ORPHA:2729
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Pseudomyxoma Peritonei	Hernia, Lymphadenopathy	ORPHA:26790
Gerstmann-Straussler Disease	Limb ataxia, Gait ataxia, Weight loss, Truncal ataxia, Bradykinesia	OMIM:137440
Microphthalmia, Lenz Type	Hydroureter, Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, Short stature, Hypospadias	ORPHA:568
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Annular pancreas, Hydrouret...	OMIM:265380
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Teebi-Shaltout Syndrome	High, narrow palate, Highly arched eyebrow, Ureteral stenosis, Horseshoe kidney, Low anterior hai...	OMIM:272950
Gabriele-De Vries Syndrome	Sparse eyebrow, Intrauterine growth retardation, Frontal upsweep of hair, Cryptorchidism, Uretero...	OMIM:617557
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Distal Deletion 12Q	High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Fine hair, Growth delay, ...	ORPHA:96149
Hoxha-Aliu Syndrome	Highly arched eyebrow, High anterior hairline, Vesicoureteral reflux, Low anterior hairline, Hydr...	OMIM:620662
Christianson Syndrome	Truncal ataxia, Cachexia, Gait ataxia	ORPHA:85278
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, High palate, Absent nipple, Ureteral triplication	OMIM:104350
Joubert Syndrome 6	Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis	OMIM:610688
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys...	OMIM:617641
Bardet-Biedl Syndrome 12	Hypogonadism, Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Cardiofaciocutaneous Syndrome	Fine hair, Functional abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the eyebro...	ORPHA:1340
Microvillus Inclusion Disease	Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph...	ORPHA:2290
1Q21.1 Microdeletion Syndrome	Ankyloglossia, Intrauterine growth retardation, Vesicoureteral reflux, Cryptorchidism, Hydronephr...	ORPHA:250989
Pleural Mesothelioma	Weight loss	ORPHA:50251
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Allergic Bronchopulmonary Aspergillosis	Weight loss	ORPHA:1164
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Postnatal growth retardation, Intrauterine growth retardation, Hydr...	OMIM:617093
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Sparse eyebrow, Unilateral renal agenesis, Cryptorchidism, Hydronephrosis,...	OMIM:616737
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux, Short stature	ORPHA:2484
Lower Urinary Tract Obstruction, Congenital	Vesicoureteral reflux, Urinary incontinence, Pollakisuria, Congenital posterior urethral valve, U...	OMIM:618612
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Highly arched eyebrow, Anteriorly placed anus, Supernumerary nipple, Vesicoureteral reflux, Crypt...	OMIM:618653
Systemic Sclerosis	Chronic kidney disease, Barrett esophagus, Alopecia, Acute kidney injury, Intestinal bleeding, Ga...	ORPHA:90291
Kabuki Syndrome	Highly arched eyebrow, Abnormal localization of kidney, Sparse lateral eyebrow, Long eyelashes, C...	ORPHA:2322
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Rhizomelia, Postnatal growth retardation, Sparse eyelashes, Hydronephrosis, Patch...	OMIM:302960
Small Cell Carcinoma Of The Bladder	Hematuria, Dysuria, Recurrent urinary tract infections	ORPHA:284400
Developmental Delay With Or Without Dysmorphic Facies And Autism	Highly arched eyebrow, Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflu...	OMIM:618454
Perry Syndrome	Weight loss	ORPHA:178509
Isolated Succinate-Coq Reductase Deficiency	Loss of ambulation, Weight loss, Ataxia	ORPHA:3208
Rhabdoid Tumor	Anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Opitz Gbbb Syndrome	Abnormality of the urinary system, Ankyloglossia, Vesicoureteral reflux, Cryptorchidism, Hydronep...	ORPHA:2745
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Vesicoureteral reflux, Hydronephrosis, Severe intrauterine growth r...	OMIM:620663
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Proteinuria, Abnorma...	ORPHA:2035
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
White-Kernohan Syndrome	Gastroesophageal reflux, Horizontal eyebrow, Hydroureter, Anteriorly placed anus, Horseshoe kidne...	OMIM:619426
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Macroglossia, Acute kidney injury, Nephronophthisis, Rhizomelia, Fair hair, Bifid uvula, Hepatosp...	OMIM:266920
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Ureteral stenosis, Hypertrichosis, Postnatal growth retardation, Hydronephrosis, Hyp...	OMIM:269150
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Gait disturbance, Ataxia, Choreoathetosis	ORPHA:702
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Premature graying of hair	OMIM:277175
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren...	OMIM:208085
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Postnatal growth retardation, Intrauterine growth retardation, Macroglossia	ORPHA:254528
Young-Onset Parkinson Disease	Hyposmia	ORPHA:2828
Trisomy 18	Narrow palate, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Abnormality of th...	ORPHA:3380
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Lymphadenopathy, Anemia	ORPHA:39041
Griscelli Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Abnorma...	ORPHA:381
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Cryptorchidism, Protruding tongue, Hydronephrosis, Dysphagia,...	OMIM:214100
15Q Overgrowth Syndrome	High, narrow palate, Bifid uvula, Ureterovesical stenosis, Horseshoe kidney, Intrauterine growth ...	ORPHA:314585
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Lymphadeno...	ORPHA:47612
Erdheim-Chester Disease	Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Hyperhidrosis, Anemia, Dysuria	ORPHA:35687
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of the urinary system, Frontal balding, Cryptorchidism, Hydronep...	ORPHA:96092
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Intestinal ...	OMIM:615710
Smith-Lemli-Opitz Syndrome	Cryptorchidism, Duplicated collecting system, Hypospadias, Gastroesophageal reflux, Renal agenesi...	OMIM:270400
Riboflavin Transporter Deficiency	Cachexia, Ataxia	ORPHA:97229
Cranioectodermal Dysplasia 3	Rhizomelia, Short nail, Nephronophthisis, Fine hair, Stage 5 chronic kidney disease, Short statur...	OMIM:614099
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Pancreatitis, Dyspa...	ORPHA:36426
Congenital Myopathy 17	Renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis, High palate, Cleft palate	OMIM:618975
Kallmann Syndrome	Anosmia, Hyposmia	ORPHA:478
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Cryptorchidism, Polycystic ovaries, ...	ORPHA:110
Apert Syndrome	Bifid uvula, Rhizomelic arm shortening, Cryptorchidism, Hydronephrosis, Ectopic anus, Esophageal ...	OMIM:101200
Alg9-Cdg	Bifid uvula, Rhizomelia, Hypoplasia of the bladder, Gastroesophageal reflux, Hypertrichosis, Vill...	ORPHA:79328
Cerebellar-Facial-Dental Syndrome	Severe short stature, Sparse eyebrow, Infancy onset short-trunk short stature, Fine hair, Uretero...	ORPHA:444072
Au-Kline Syndrome	Chronic kidney disease, Bifid uvula, Gastroesophageal reflux, Dilatation of the renal pelvis, Spa...	OMIM:616580
Pudendal Neuralgia	Dysuria, Dyspareunia, Erectile dysfunction, Pollakisuria	ORPHA:60039
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosis	OMIM:619644
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Hydronephrosis, Delayed puberty, Short stature, Growth delay, Cleft palate	OMIM:614921
Superficial Siderosis	Anosmia, Partial anosmia, Dysgyria	ORPHA:247245
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Abnormal renal collecting system morphology, Hydroureter, Fair hair, Unilateral re...	ORPHA:280633
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anosmia, Absent nares, Single naris, Hyposmia	ORPHA:2250
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Inability to walk, Failure to thrive in infancy, Cachexia	OMIM:616801
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Renal insufficiency, Tracheoesophageal f...	ORPHA:537
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Postnatal growth retardation, Nephr...	OMIM:610832
Mednik Syndrome	Microcolon, Volvulus, Death in childhood, Death in infancy, Neonatal death, Jejunal atresia, Grow...	OMIM:609313
3Mc Syndrome 1	Highly arched eyebrow, Supernumerary nipple, Postnatal growth retardation, Hydronephrosis, Growth...	OMIM:257920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:457077
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Desmoplastic Small Round Cell Tumor	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Bone-marrow foam cells	OMIM:257200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Severe B lymphocytopenia, Pancreatic hypoplasia, Postnatal growth re...	ORPHA:83617
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ataxia	ORPHA:1933
1P36 Deletion Syndrome	Gastroesophageal reflux, Horizontal eyebrow, Annular pancreas, Hypogonadism, Abnormal eyebrow mor...	ORPHA:1606
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Macroglossia, Multicystic kidney dysplasia, Hydroureter, Polysplenia, Supern...	ORPHA:373
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Highly arched eyebrow, Sparse eyebrow, Postnatal growth retardation, A...	ORPHA:487796
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Focal Dermal Hypoplasia	Alopecia, Multicystic kidney dysplasia, Gastroesophageal reflux, Horseshoe kidney, Renal hypoplas...	ORPHA:2092
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cholelithiasis, Sparse eyebrow, Male urethral meatus stenosis, Furrowed tong...	ORPHA:464738
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Rhizomelia, Growth delay, Gastroes...	ORPHA:818
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Alopecia, Pelvic kidney, Cryptorchidism	OMIM:613001
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Amelogenesis imperfecta, Abnormal lymphocyte count, Ly...	OMIM:612783
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Moebius Syndrome	Abnormality of the sense of smell	ORPHA:570
Pseudo-Torch Syndrome 2	Abnormal renal corticomedullary differentiation, Thrombocytopenia	OMIM:617397
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Intestinal obstruction, Hema...	ORPHA:900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Cachexia, Ataxia	ORPHA:42
Craniofacioskeletal Syndrome	Intrauterine growth retardation, Absent gallbladder, Cryptorchidism, Hydronephrosis, Short statur...	OMIM:300712
Liposarcoma	Weight loss	ORPHA:69078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Alopecia, Hematochezia, Xerostomia, Gastrointestinal carcinoma, Nail ...	OMIM:175500
Intellectual Developmental Disorder, Autosomal Dominant 42	Congenital hypothyroidism, Ureteropelvic junction obstruction, Hydronephrosis, Neurogenic bladder...	OMIM:616973
Trisomy 8P	Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Cryptorchidism, Low ...	ORPHA:264450
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Joubert Syndrome 2	Renal cyst, High palate, Nephronophthisis, Renal insufficiency	OMIM:608091
Wolfram Syndrome	Nephropathy, Male hypogonadism, Abnormality of the urinary system, Gastrointestinal hemorrhage, R...	ORPHA:3463
Cap Polyposis	Weight loss	ORPHA:160148
Mcdonough Syndrome	Cachexia	ORPHA:2471
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hydronephrosis, Anemia, Short stature, Thrombocytopenia, Micr...	ORPHA:163979
Gabriele-De Vries Syndrome	Sparse eyebrow, Oral-pharyngeal dysphagia, Decreased response to growth hormone stimulation test,...	ORPHA:506358
Digeorge Syndrome	Ovarian cyst, High palate, Renal dysplasia, High, narrow palate, Cholelithiasis, Gastroesophageal...	OMIM:188400
15q26 overgrowth syndrome	High anterior hairline, Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicouret...	DECIPHER:81
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Enuresis, Horizontal eyebrow, Growth delay, Sparse anterior scalp hair...	ORPHA:96121
Baraitser-Winter Cerebrofrontofacial Syndrome	Highly arched eyebrow, Hydroureter, Low posterior hairline, Hydronephrosis, Abnormality of the up...	ORPHA:2995
Cousin Syndrome	Rhizomelia, Disproportionate short stature, Microglossia, Facial hirsutism, Low anterior hairline...	OMIM:260660
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Flynn-Aird Syndrome	Cachexia, Ataxia	ORPHA:2047
Wilson Disease	Difficulty walking, Increased body weight, Weight loss, Failure to thrive	ORPHA:905
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Gait disturbance	ORPHA:2774
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Growth delay, Renal agenesis, Intrauterine growth retardation, Grade III vesicoureteral...	OMIM:619522
Occipital Horn Syndrome	Coarse hair, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Hiatus hernia, Pili tort...	OMIM:304150
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Myeloproliferative disorder, Lymphadenopathy, Lymphocytosis	ORPHA:79456
Bone Dysplasia, Lethal Holmgren Type	Weight loss, Failure to thrive	ORPHA:1842
Cinca Syndrome	Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Abnormal granulo...	ORPHA:1451
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Growth delay, Absence of renal corticomedullary differentiation	OMIM:619758
8P11.2 Deletion Syndrome	Depressed nasal bridge, Anosmia	ORPHA:251066
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Raine Syndrome	Highly arched eyebrow, Hydroureter, Protruding tongue, Hydronephrosis, Short stature, High palate...	OMIM:259775
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Multicystic kidney dysplasia, Exocrine pancreatic insufficien...	ORPHA:2750
Meningioma	Hydrocephalus, Abnormality of the sense of smell	ORPHA:2495
Thymic Carcinoma	Weight loss	ORPHA:99868
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m...	ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath...	OMIM:233710
Osteosarcoma	Weight loss	ORPHA:668
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Frontometaphyseal Dysplasia 1	Hydroureter, Hirsutism, Hydronephrosis, High palate, Cleft palate	OMIM:305620
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss	ORPHA:298
Graves Disease	Weight loss	OMIM:275000
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Postnatal growth retardation, Cryptorchidism, High palate, Duode...	OMIM:135900
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Reduc...	OMIM:602522
Chronic Beryllium Disease	Weight loss	ORPHA:133
Charge Syndrome	Postnatal growth retardation, Lymphopenia, Cryptorchidism, Hypoparathyroidism, Anal atresia, Dysp...	OMIM:214800
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Liver Disease, Severe Congenital	Dry hair, Hypospadias, Aminoaciduria, Chronic gastritis, Anemia, Hydrocele testis, Protein-losing...	OMIM:619991
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Lymphadenopathy	ORPHA:549
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Cellulitis, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopath...	OMIM:233690
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopath...	ORPHA:424016
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Ureteropelvic junction obstruction, Acu...	OMIM:280000
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Schinzel-Giedion Syndrome	Annular pancreas, Central hypothyroidism, Anteriorly placed anus, Abnormality of the ureter, Stre...	ORPHA:798
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Hydrocele testis, Synophrys	OMIM:618154
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo...	ORPHA:92050
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Postnatal growth retardation, Frontal upsweep of hair, Cryptorchidism, Low...	OMIM:180849
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph...	OMIM:617718
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Floating-Harbor Syndrome	Nephrocalcinosis, Gastroesophageal reflux, Dilatation of the renal pelvis, Renal agenesis, Growth...	ORPHA:2044
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Peters Plus Syndrome	Multicystic kidney dysplasia, Rhizomelia, Disproportionate short-limb short stature, Intestinal f...	ORPHA:709
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Anal atresia, Urethral atresia	OMIM:271520
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Neuroblastoma, Susceptibility To, 1	Weight loss, Failure to thrive, Ataxia	OMIM:256700
Hereditary Late-Onset Parkinson Disease	Hyposmia	ORPHA:411602
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
X-Linked Creatine Transporter Deficiency	Cachexia, Athetosis, Ataxia	ORPHA:52503
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Dysmetria, Gait disturbance, Weight loss, Ataxia, Nonprogressive cerebellar ataxia, Dysdiadochoki...	OMIM:301310
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis	OMIM:620454
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Growth delay, Proportionate short stature	OMIM:619269
Eosinophilic Fasciitis	Weight loss	ORPHA:3165
Rett Syndrome	Truncal ataxia, Cachexia, Gait ataxia, Gait apraxia	OMIM:312750
Immunodeficiency 58	Cutaneous abscess, Esophagitis, Helicobacter pylori infection, Dysphagia, Short stature, Colitis,...	OMIM:618131
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcification of de...	ORPHA:169090
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Leopard Syndrome 1	Spina bifida occulta, Depressed nasal ridge, Hyposmia	OMIM:151100
Johanson-Blizzard Syndrome	Colonic diverticula, Fair hair, Anteriorly placed anus, Exocrine pancreatic insufficiency, Intrau...	OMIM:243800
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Autosomal Recessive Robinow Syndrome	Alopecia, Multicystic kidney dysplasia, Disproportionate short-limb short stature, Ankyloglossia,...	ORPHA:1507
Monosomy 22Q13.3	Gastroesophageal reflux, Long eyelashes, Thick eyebrow, Vesicoureteral reflux, Recurrent pyelonep...	ORPHA:48652
Waardenburg Syndrome, Type 2E	Anosmia	OMIM:611584
Takayasu Arteritis	Weight loss	ORPHA:3287
Charge Syndrome	Highly arched eyebrow, Gastroesophageal reflux, Horseshoe kidney, Postnatal growth retardation, I...	ORPHA:138
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, L...	OMIM:214500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia	OMIM:609136
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Adult-Onset Still Disease	Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Lymphadenop...	ORPHA:829
Urachal Cyst	Leukocytosis, Abscess, Hematuria, Urachus fistula, Dysuria, Pyuria	ORPHA:488
Renpenning Syndrome	Cachexia	ORPHA:3242
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Hepatoblastoma, Anal atre...	OMIM:312870
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia	OMIM:619718
Otopalatodigital Syndrome Type 2	Ureteral obstruction, Hydronephrosis, Glossoptosis, Hypospadias, Cleft palate	ORPHA:90652
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Alopecia, Fair hair, Recurrent urinary tract infections, Decreased response to growt...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Alopecia, Fair hair, Recurrent urinary tract infections, Decreased response to growt...	ORPHA:363958
Holoprosencephaly 3	Hydronephrosis, Bifid uvula, Cleft palate	OMIM:142945
Floating-Harbor Syndrome	Nephrocalcinosis, Glandular hypospadias, Long eyelashes, Cryptorchidism, Hirsutism, Low posterior...	OMIM:136140
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy	ORPHA:99812
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Juvenile Amyotrophic Lateral Sclerosis	Tip-toe gait, Difficulty walking, Inability to walk, Cachexia, Ataxia	ORPHA:300605
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Alopecia, Hydronephrosis, Short stature, Mild intrauterine growth reta...	OMIM:308050
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy, Th...	OMIM:603553
Bullous Pemphigoid	Weight loss	ORPHA:703
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Cryptorchidism, Hydronephrosis, Hiatus hernia, Abnormal duodenum morpholo...	OMIM:601776
X-Linked Agammaglobulinemia	Weight loss, Failure to thrive	ORPHA:47
Gm1 Gangliosidosis	Failure to thrive, Gait disturbance, Weight loss, Ataxia, Unsteady gait	ORPHA:354
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Microglossia, Long eyelashes, Cryptorchidism, Renal duplication, Nephrolithiasi...	OMIM:268310
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss	ORPHA:411703
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:267700
Kaposi Sarcoma	Weight loss	ORPHA:33276
Al-Gazali Syndrome	Hydronephrosis	OMIM:609465
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Graft Versus Host Disease	Hemophagocytosis, Fasciitis, Hepatosplenomegaly, Dupuytren contracture, Lipodystrophy, Lymphadeno...	ORPHA:39812
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hematochezia, Cryptorchidism, Hypothyroidism, Polyuria, Renal dysplasia	OMIM:618183
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Majeed Syndrome	Cachexia, Weight loss, Failure to thrive	ORPHA:77297
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Sparse lateral eyebrow, Reduced renal corticomedullary differentiat...	OMIM:277000
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Chime Syndrome	Acute leukemia, Fine hair, Hydronephrosis, Abnormality of the kidney, Sparse hair, Cleft palate	ORPHA:3474
Polyarteritis Nodosa	Weight loss	ORPHA:767
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Bifid uvula, Alopecia, Abnormality of the urinary system, Hydroureter, Thin...	ORPHA:2636
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormality of the urinary system, Growth delay, Gastroesophageal reflux, Recurrent urinary tract...	ORPHA:353281
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Knobloch Syndrome 1	Horizontal eyebrow, Bifid ureter, Alopecia of scalp, Renal duplication, Hydronephrosis, Duplicate...	OMIM:267750
Focal Dermal Hypoplasia	Anteriorly placed anus, Supernumerary nipple, Horseshoe kidney, Bifid ureter, Intestinal malrotat...	OMIM:305600
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Alopecia, Hydroureter, Abnormal hair morphology, Thin eyebrow, Cryptorchidi...	ORPHA:2273
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Weight loss	ORPHA:171876
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Splenomegaly, Thrombocytopenia, Neutropenia, Enlarged tons...	OMIM:308230
Arboleda-Tham Syndrome	Highly arched eyebrow, Gastroesophageal reflux, Bilateral cryptorchidism, Sparse medial eyebrow, ...	OMIM:616268
Bosma Arhinia Microphthalmia Syndrome	Choanal atresia, Aplasia of the nose, Anosmia	OMIM:603457
Amoebiasis Due To Free-Living Amoebae	Hyposmia	ORPHA:68
Frontometaphyseal Dysplasia	Bifid uvula, Ureteral obstruction, Hydronephrosis, Growth delay, Cleft palate, Urethral stenosis	ORPHA:1826
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Waardenburg Syndrome, Type 4C	Anosmia	OMIM:613266
Granulomatous Disease, Chronic, X-Linked	Cellulitis, Granuloma, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lym...	OMIM:306400
Robinow Syndrome	Webbed penis, High anterior hairline, Multicystic kidney dysplasia, Ankyloglossia, Cryptorchidism...	ORPHA:97360
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Polymyositis	Gait disturbance, Weight loss	ORPHA:732
Kikuchi-Fujimoto Disease	Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of pa...	ORPHA:50918
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Decreased circulating iron concen...	ORPHA:447
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Leukopenia, Leukocyto...	OMIM:615688
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, ...	OMIM:606170
Tuberous Sclerosis 2	Adenoma sebaceum, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Hypothyroidis...	OMIM:613254
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Tetrasomy 12P	Cachexia	ORPHA:884
Cryptogenic Organizing Pneumonia	Weight loss	ORPHA:1302
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Disproportionate short-limb short stature, Cryptorchidism, Hydronephrosis, Rena...	ORPHA:93271
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia, Hemolytic anemia	ORPHA:1572
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Trichiasis, Abnormality of the urinary system, Gastroesophageal reflux, Na...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Trichiasis, Abnormality of the urinary system, Gastroesophageal reflux, Na...	ORPHA:353277
Meige Disease	Cellulitis, Atypical scarring of skin, Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Hydrolethalus Syndrome 1	Accessory spleen, Intrauterine growth retardation, Hydronephrosis, Adrenal gland dysgenesis, Hypo...	OMIM:236680
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:809
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L...	ORPHA:83471
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Hernia, Lipodystrophy, Lymphadenopathy, Camptodactyly, His...	ORPHA:168569
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Tetrasomy 9P	Bifid uvula, Recurrent urinary tract infections, Horseshoe kidney, Intrauterine growth retardatio...	ORPHA:3310
Idiopathic Chronic Eosinophilic Pneumonia	Weight loss	ORPHA:2902
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Yao Syndrome	Weight loss	OMIM:617321
Nijmegen Breakage Syndrome	Acute leukemia, Anal stenosis, Abnormal hair morphology, Anorectal anomaly, Hemolytic anemia, Aut...	ORPHA:647
Laryngotracheoesophageal Cleft Type 4	Cachexia	ORPHA:93941
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina...	ORPHA:512
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss	ORPHA:86884
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Symptomatic Form Of Hfe-Related Hemochromatosis	Lethargy, Weight loss	ORPHA:465508
Secondary Syringomyelia	Dysuria, Pseudobulbar paralysis	ORPHA:99857
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Rheumatoid Arthritis	Weight loss	OMIM:180300
Oromandibular Dystonia	Weight loss	ORPHA:93958
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Gastroesophageal reflux, Increased circulating prolactin concentration, V...	ORPHA:438213
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Melnick-Needles Syndrome	Coarse hair, Ureteral stenosis, Hydronephrosis, Frontal hirsutism, Cleft palate	OMIM:309350
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Cronkhite-Canada Syndrome	Cachexia	ORPHA:2930
Wilson Disease	Hyposmia	OMIM:277900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia	OMIM:615895
Poems Syndrome	Polycythemia, Splenomegaly, Lipodystrophy, Lymphadenopathy, Thrombocytosis	ORPHA:2905
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Rhizomelia, Long eyelashes, Cryptorchidism, Renal duplication, Hydronephrosis, Sho...	OMIM:180700
Wolman Disease	Cachexia	ORPHA:75233
Neuroblastoma	Weight loss, Antalgic gait, Ataxia	ORPHA:635
Celiac Disease, Susceptibility To, 1	Weight loss, Failure to thrive, Ataxia	OMIM:212750
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Gait ataxia, Dysmetria, Progressive gait ataxia, Weight loss, Ataxia	OMIM:607459
Loeffler Endocarditis	Weight loss	ORPHA:75566
Viss Syndrome	Cleft soft palate, Celiac disease, High palate, Dysphagia, Duodenitis, High, narrow palate, Alope...	OMIM:619472
Juvenile Polyposis Syndrome	Rectocele, Gastrointestinal hemorrhage, Hamartomatous stomach polyps, Brain abscess, Protein-losi...	ORPHA:2929
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Abnormality of the kidney, Urinary inconti...	ORPHA:2152
Mesomelia-Synostoses Syndrome	Hydronephrosis, Mesomelic short stature, Absent uvula	OMIM:600383
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Late-Onset Isolated Acth Deficiency	Lethargy, Weight loss, Failure to thrive	ORPHA:199299
Ménétrier Disease	Weight loss	ORPHA:2494
Microcephaly 29, Primary, Autosomal Recessive	Thick eyebrow, Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Sotos Syndrome	Gastroesophageal reflux, Renal agenesis, Sparse anterior scalp hair, Decreased fertility, Cryptor...	ORPHA:821
Beta-Ketothiolase Deficiency	Weight loss, Ataxia	ORPHA:134
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Campomelic Dysplasia	Neonatal short-limb short stature, Short nail, Disproportionate short-limb short stature, Submuco...	OMIM:114290
Acute Monoblastic/Monocytic Leukemia	Weight loss	ORPHA:514
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Sarcoidosis	Alopecia, Nephrocalcinosis, Parotitis, Abnormal lymph node morphology, Leukopenia, Enlargement of...	ORPHA:797
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypertrichosis, High palate, Hydronephrosis, Hypoplastic nipples, Anal atresia, Delayed puberty, ...	ORPHA:480880
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Renal hypoplasia, Xerostomia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis,...	ORPHA:2363
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Narrow palate, Nephrocalcinosis, Abnormality o...	ORPHA:79500
Wiedemann-Rautenstrauch Syndrome	Growth delay, Increased circulating prolactin concentration, Recurrent urinary tract infections, ...	ORPHA:3455
Eosinophilic Granulomatosis With Polyangiitis	Gait disturbance, Weight loss	ORPHA:183
Aredyld Syndrome	Cachexia	ORPHA:1133
Systemic Capillary Leak Syndrome	Weight loss	ORPHA:188
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
3-Hydroxy-3-Methylglutaric Aciduria	Lethargy, Weight loss, Ataxia	ORPHA:20
Pneumocystosis	Weight loss	ORPHA:723
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Nodular Non-Suppurative Panniculitis	Weight loss	ORPHA:33577
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Weight loss	ORPHA:324964
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Pemphigus Vulgaris	Weight loss	ORPHA:704
Peters-Plus Syndrome	Facial hypertrichosis, Renal hypoplasia, Disproportionate short-limb short stature, Rhizomelia, A...	OMIM:261540
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Exocr...	OMIM:118450
Giant Cell Arteritis	Weight loss, Ataxia	ORPHA:397
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Cachexia, Obesity	ORPHA:85293
Short Syndrome	Weight loss	ORPHA:3163
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Dysphagia, Hypospadi...	ORPHA:261537
Bloom Syndrome	Recurrent tonsillitis, Abscess, Decreased proportion of CD4-positive T cells, Adipose tissue loss...	ORPHA:125
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Cervical lymphadenopathy, Hepatosplenomegaly,...	OMIM:602782
Imerslund-Gräsbeck Syndrome	Weight loss, Failure to thrive	ORPHA:35858
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Familial Colorectal Cancer Type X	Gait disturbance, Weight loss	ORPHA:440437
Biliary, Renal, Neurologic, And Skeletal Syndrome	Gastroesophageal reflux, Dilatation of the renal pelvis, Hyperechogenic kidneys, Medullary nephro...	OMIM:619534
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Trichiasis, Acute kidney injury, Moderate albuminuria, Xerostomia, Ora...	ORPHA:95455
Aicardi-Goutieres Syndrome 9	Weight loss, Failure to thrive	OMIM:619487
Lymphoid Interstitial Pneumonia	Weight loss, Failure to thrive	ORPHA:79128
Somatomammotropinoma	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	ORPHA:314769
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Fraser Syndrome 1	Renal hypoplasia, Extension of hair growth on temples to lateral eyebrow, Abnormal small intestin...	OMIM:219000
Acromegaly	Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Dysuria, Wid...	ORPHA:963
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity	ORPHA:813
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Dysphagia, Hypospadi...	ORPHA:261552
Adrenocortical Carcinoma	Increased body weight, Weight loss	ORPHA:1501
Budd-Chiari Syndrome	Weight loss	ORPHA:131
Osteootohepatoenteric Syndrome	Weight loss, Failure to thrive	OMIM:619377
Familial Glucocorticoid Deficiency	Weight loss, Failure to thrive	ORPHA:361
Acrodermatitis Enteropathica	Weight loss, Failure to thrive	ORPHA:37
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Whipple Disease	Cachexia, Ataxia	ORPHA:3452
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Increased circulating cortisol ...	ORPHA:99889
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Granuloma, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal renal morphology, Short stature, Hi...	ORPHA:363700
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Primary Intestinal Lymphangiectasia	Weight loss	ORPHA:90362
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss	ORPHA:276621
Infantile Krabbe Disease	Cachexia, Failure to thrive	ORPHA:206436
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Otopalatodigital Syndrome, Type Ii	Postnatal growth retardation, Cryptorchidism, Hydronephrosis, Short stature, Hypospadias, Widow's...	OMIM:304120
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Failure to thrive, Ataxia	ORPHA:99885
Osteogenesis Imperfecta, Type Vii	Hydronephrosis, Rhizomelia, Short stature	OMIM:610682
Riddle Syndrome	Gait disturbance, Weight loss, Ataxia	ORPHA:420741
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Decreased testicular size, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Fasciitis, Leukocytosis, Splenomegaly, Lymphadenopathy	ORPHA:32960
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Thymoma	Weight loss	ORPHA:99867
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Cystic Echinococcosis	Weight loss	ORPHA:400
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Oculopharyngodistal Myopathy 1	Difficulty walking, Weight loss, Ataxia	OMIM:164310
Peripheral Primitive Neuroectodermal Tumor	Weight loss	ORPHA:370348
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Ataxia	ORPHA:220295
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy, Enthesitis, Anemia, Flexion contracture	ORPHA:85408
Acrofacial Dysostosis, Cincinnati Type	Bilateral cryptorchidism, Intrauterine growth retardation, Thick eyebrow, Cryptorchidism, Hydrone...	OMIM:616462
Amoebiasis Due To Entamoeba Histolytica	Weight loss	ORPHA:67
Familial Pancreatic Carcinoma	Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Alveolar Echinococcosis	Weight loss, Ataxia	ORPHA:284
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Elbow flexion contracture, Microcytic anemia, Loss of facial adipose tis...	OMIM:256040
Insulin-Resistance Syndrome Type B	Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight	ORPHA:2298
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Al Amyloidosis	Weight loss	ORPHA:85443
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Xfe Progeroid Syndrome	Cachexia, Failure to thrive	OMIM:610965
Hereditary Pheochromocytoma-Paraganglioma	Weight loss	ORPHA:29072
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Simple Cryoglobulinemia	Weight loss	ORPHA:91139
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hydronephrosis, Bifid uvula, High palate	OMIM:620330
Mucolipidosis Type Ii	Inability to walk, Weight loss	ORPHA:576
Lysosomal Acid Lipase Deficiency	Cachexia, Weight loss, Failure to thrive	ORPHA:275761
Pyomyositis	Weight loss	ORPHA:764
Familial Thrombocytosis	Weight loss	ORPHA:71493
Polycythemia Vera	Weight loss	ORPHA:729
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Tropical Pancreatitis	Weight loss	ORPHA:103918
Neuroendocrine Tumor Of Stomach	Weight loss	ORPHA:100075
Anemia, Congenital Dyserythropoietic, Type Iv	Weight loss	OMIM:613673
Caroli Disease	Weight loss	ORPHA:53035
Acute Adrenal Insufficiency	Weight loss, Failure to thrive	ORPHA:95409
Granulomatosis With Polyangiitis	Weight loss	OMIM:608710
Q Fever	Weight loss	ORPHA:781
Renal Nutcracker Syndrome	Weight loss	ORPHA:71273
Juvenile Dermatomyositis	Weight loss	ORPHA:93672
Hermansky-Pudlak Syndrome	Weight loss	ORPHA:79430
Schwartz-Jampel Syndrome	Cachexia, Gait disturbance, Decreased body weight	ORPHA:800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Failure to thrive in infancy, Cachexia	ORPHA:37042
African Trypanosomiasis	Narcolepsy, Difficulty walking, Akinesia, Gait disturbance, Weight loss, Choreoathetosis	ORPHA:3385
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss	ORPHA:309031
Behçet Disease	Gait disturbance, Weight loss, Ataxia	ORPHA:117
Lynch Syndrome	Gait disturbance, Weight loss	ORPHA:144
Microsporidiosis	Cachexia, Weight loss	ORPHA:2552
Seckel Syndrome	Cachexia	ORPHA:808
Cockayne Syndrome	Difficulty walking, Inability to walk, Progressive gait ataxia, Cachexia, Gait disturbance, Ataxia	ORPHA:191
Rat-Bite Fever	Weight loss	ORPHA:31205
Aicardi-Goutieres Syndrome 7	Weight loss	OMIM:615846
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive	ORPHA:2020
Addison Disease	Weight loss, Failure to thrive	ORPHA:85138
Cystinosis, Nephropathic	Failure to thrive in infancy, Weight loss, Failure to thrive	OMIM:219800
Reactive Arthritis	Weight loss	ORPHA:29207
Fanconi Anemia	Weight loss	ORPHA:84
Choreoacanthocytosis	Loss of ambulation, Bradykinesia, Weight loss, Falls	ORPHA:2388
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Primary Sclerosing Cholangitis	Weight loss	ORPHA:171
Brucellosis	Weight loss, Small for gestational age, Failure to thrive	ORPHA:1304
Ppoma	Weight loss	ORPHA:97278
Tsh-Secreting Pituitary Adenoma	Weight loss	ORPHA:91347
Somatostatinoma	Weight loss	ORPHA:97283
Parathyroid Carcinoma	Weight loss	ORPHA:143
Multiple Endocrine Neoplasia Type 1	Lethargy, Weight loss	ORPHA:652
Vipoma	Weight loss	ORPHA:97282
Zollinger-Ellison Syndrome	Weight loss	ORPHA:913
Pulmonary Alveolar Microlithiasis	Weight loss	ORPHA:60025
Grfoma	Weight loss	ORPHA:97261
Glucagonoma	Weight loss	ORPHA:97280
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Broad-based gait, Limb ataxia	ORPHA:2072
Postinfectious Vasculitis	Weight loss	ORPHA:48435
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Shuffling gait, Weight loss	ORPHA:740
Nocardiosis	Weight loss	ORPHA:31204
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Igg4-Related Dacryoadenitis And Sialadenitis	Weight loss	ORPHA:79078
Dermatomyositis	Weight loss	ORPHA:221
Sarcoidosis, Susceptibility To, 1	Weight loss	OMIM:181000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Weight loss, Failure to thrive	ORPHA:90794
Systemic Lupus Erythematosus	Weight loss	ORPHA:536
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Chronic Graft Versus Host Disease	Weight loss	ORPHA:99921
Stickler Syndrome	Slender build, Cachexia	ORPHA:828
Proteus Syndrome	Cachexia	ORPHA:744
Norrie Disease	Cachexia, Failure to thrive	ORPHA:649
Tropical Endomyocardial Fibrosis	Cachexia	ORPHA:75565

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 Id2

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 Id2.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Id2^{tm2b(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Id2^{tm2b(EUCOMM)Wtsi}	PMC6671969

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Id2^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Id2^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Id2^{tm2b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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