Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 (1077 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
Azotemia, Familial	Azotemia	OMIM:109160
Immunodeficiency 105	Lymphopenia, Death in childhood, Hepatosplenomegaly, Absence of lymph node germinal center, T lym...	OMIM:619924
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Posterior Urethral Valve	Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Postnatal growth retardation, Recurr...	ORPHA:93110
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis	ORPHA:60026
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Amenorrhea, Hirsutism, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Urinary ...	ORPHA:2795
Adenine Phosphoribosyltransferase Deficiency	Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ...	ORPHA:976
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count	OMIM:618261
Immunodeficiency 54	Adrenocorticotropic hormone excess, Short stature, Splenomegaly, Postnatal growth retardation, Ly...	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	Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Impaired ...	OMIM:600802
Immunodeficiency 76	Colitis, Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia, Gro...	OMIM:619164
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi...	OMIM:618204
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Short stature, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopen...	OMIM:616050
Immunodeficiency 97 With Autoinflammation	Colitis, Lymphopenia, Enterocolitis, Hemophagocytosis, Splenomegaly, Decreased proportion of CD8-...	OMIM:619802
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Neutropenia, Hemophagocytosis, Abnormal renal physiology, Splenomegaly, Hepatosplenomegaly, Nephr...	ORPHA:158057
Immunodeficiency 55	Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells	OMIM:617827
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy, Esophageal carcinoma	ORPHA:99977
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Visceral Myopathy 1	Pancreatitis, Urinary retention, Dysphagia, Hydronephrosis, Megaduodenum, Intestinal pseudo-obstr...	OMIM:155310
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
X-Linked Lymphoproliferative Disease	Histiocytosis, Lymphocytosis, Hemophagocytosis, Splenomegaly, Cervical lymphadenopathy, Enlarged ...	ORPHA:2442
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent gastroenteritis, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocyt...	ORPHA:79124
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Spastic Paraplegia 9B, Autosomal Recessive	Growth delay, Urinary retention, Pseudobulbar paralysis, Short stature	OMIM:616586
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Immunodeficiency 85 And Autoimmunity	Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Carcinoma Of Esophagus	Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo...	ORPHA:70482
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf...	ORPHA:35078
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s...	OMIM:619846
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Alpha-Heavy Chain Disease	Malabsorption, Alopecia, Splenomegaly, Abnormality of the small intestine, Growth delay, Anemia, ...	ORPHA:100025
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells	OMIM:312863
Porphyria, Acute Intermittent	Dysuria, Paralytic ileus, Hepatocellular carcinoma, Elevated urinary delta-aminolevulinic acid, U...	OMIM:176000
Immunodeficiency 57 With Autoinflammation	Gastritis, B lymphocytopenia, Inflammation of the large intestine, T lymphocytopenia, Perianal ab...	OMIM:618108
Macdermot-Winter Syndrome	Low anterior hairline, Frontal upsweep of hair, Highly arched eyebrow, Hydronephrosis, Intrauteri...	OMIM:247990
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Fatal Familial Insomnia	Dysphagia, Urinary retention, Hyperhidrosis	OMIM:600072
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly	OMIM:269840
Immunodeficiency 7	Lymphadenopathy, Hypereosinophilia	OMIM:615387
Renal Hypodysplasia/Aplasia 3	Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ...	OMIM:617805
Iatrogenic Botulism	Dysphagia, Urinary retention, Xerostomia	ORPHA:254509
Congenital Primary Megaureter	Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina...	ORPHA:617
Kerion Celsi	Lymphadenopathy, Recurrent cutaneous abscess formation	ORPHA:499
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Bifid uvula, Hydronephrosis	ORPHA:2669
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Acute Intermittent Porphyria	Dark urine, Dysuria, Ileus, Pseudobulbar paralysis, Increased urinary porphobilinogen, Elevated u...	ORPHA:79276
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of...	OMIM:611926
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an...	ORPHA:444463
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Nephronophthisis 7	Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611498
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder, Functional abnormality of the gastrointestinal tract	ORPHA:100997
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Low posterior hairline, Hydronephrosis	ORPHA:1450
Nephronophthisis 20	Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:617271
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Foix-Alajouanine Syndrome	Female sexual dysfunction, Functional abnormality of the bladder, Urinary retention, Male sexual ...	ORPHA:79093
Cat-Eye Syndrome	Anal atresia, Renal hypoplasia/aplasia, Short stature, Abnormal localization of kidney, Hydroneph...	ORPHA:195
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha...	OMIM:301082
Adrenomyeloneuropathy	Adrenal insufficiency, Urinary bladder sphincter dysfunction, Female sexual dysfunction, Adrenoco...	ORPHA:139399
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Postnatal growth retardation, Duplicated collecting system, Intrauterine growth retardation, Hydr...	OMIM:617093
Botulism	Dysphagia, Urinary retention, Xerostomia	ORPHA:1267
Urofacial Syndrome 2	Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u...	OMIM:615112
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication	ORPHA:147
Adenocarcinoma Of The Esophagus	Lymphadenopathy, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus	ORPHA:99976
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Wound Botulism	Dysphagia, Urinary retention	ORPHA:178475
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Foodborne Botulism	Dysphagia, Urinary retention, Xerostomia	ORPHA:228371
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Inhalational Botulism	Urinary retention, Xerostomia	ORPHA:254504
Pgm3-Cdg	High palate, Abnormal proportion of CD8-positive T cells, Gastroesophageal reflux, Lymphopenia, N...	ORPHA:443811
Immunodeficiency 104	Lymphadenopathy, T lymphocytopenia, Splenomegaly	OMIM:608971
Immunodeficiency 14A, Autosomal Dominant	Cellulitis, Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cell...	OMIM:615513
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormal motor neuron morphology, Hyposmia	OMIM:613724
Severe Generalized Junctional Epidermolysis Bullosa	Dysuria, Ureterocele, Alopecia, Anemia, Aplasia/Hypoplasia of the bladder, Ureteral obstruction, ...	ORPHA:79404
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Image Syndrome	Hypospadias, Hydronephrosis, Hypogonadism, Cryptorchidism, Intrauterine growth retardation	ORPHA:85173
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Short stature, Stage 5 chronic kidney disease, Prematur...	ORPHA:3156
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Anal atresia, Aganglionic megacolon, Hydronephrosis	OMIM:235760
Tuberculosis	Weight loss	ORPHA:3389
Pulmonary Blastoma	Weight loss	ORPHA:64741
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased circulating renin level, Decreased serum creatinine, Hyponatremia	OMIM:300539
Bardet-Biedl Syndrome 19	Hyposmia	OMIM:615996
Dermoid Cysts, Familial Frontonasal	Deviated nasal septum, Nasal congestion, Anosmia, Wide nasal bridge	OMIM:600679
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis	OMIM:618270
Autosomal Recessive Spastic Paraplegia Type 9B	Growth delay, Urinary retention, Pollakisuria, Short stature	ORPHA:447760
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Malabsorption, Macroglossia, Short stature, T lymphocytopenia, Protruding tongue, Reduced natural...	OMIM:242860
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Gastroesophageal reflux, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract inf...	OMIM:191800
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti...	OMIM:143400
Fanconi Anemia, Complementation Group O	Anal atresia, Short stature, Renal cyst, Hydronephrosis, Cryptorchidism, Rectal atresia, Stage 5 ...	OMIM:613390
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastroesophageal reflux, Sparse hair, Short stature, Urinary retention, Anhidrosis, Neutropenia, ...	OMIM:617799
Cockayne Syndrome Type 3	Gastroesophageal reflux, Mild postnatal growth retardation, Splenomegaly, Unilateral renal agenes...	ORPHA:90324
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Lymphopenia, Abnormally low T cell receptor excision circl...	ORPHA:276
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio...	OMIM:619313
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Villous atrophy, Death in infancy, Abnormal intestine morphology	OMIM:251850
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ...	OMIM:611555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Autoimmu...	OMIM:613496
Urofacial Syndrome 1	Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc...	OMIM:236730
Hepatorenocardiac Degenerative Fibrosis	Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hepatocellular carcinoma, Hyp...	OMIM:619902
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm...	ORPHA:911
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Agenesis of corpus callosum, Choanal atresia, Anosmia, Hyposmia	OMIM:147950
Nephronophthisis 13	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu...	OMIM:614377
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal malrotation, Pyloric stenosis, Increased mean platelet volume, Hydronephrosis, Intesti...	OMIM:300048
Axial Mesodermal Dysplasia Spectrum	Anal atresia, Renal hypoplasia/aplasia, Gastroesophageal reflux, Morphological abnormality of the...	ORPHA:1834
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal cortical adenoma, Pa...	ORPHA:97290
Coach Syndrome 3	Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr...	OMIM:619113
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose	ORPHA:1135
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased proportion of CD4-positive he...	OMIM:243700
X-Linked Intellectual Disability, Schimke Type	High palate, Vesicoureteral reflux, Hydronephrosis, Short stature	ORPHA:85285
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C...	OMIM:617241
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Lymphadenopathy, Microcytic anemia, Splenomegaly	OMIM:618852
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Recurrent urinary tract infections, Urinary urgency, Erectile dysfunction, Urinary ret...	ORPHA:99027
Huntington Disease-Like 2	Gait disturbance, Weight loss	ORPHA:98934
Solitary Fibrous Tumor/Hemangiopericytoma	Urinary retention, Neoplasm of the liver	ORPHA:2126
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:66661
Dysmyelination With Jaundice	Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis	OMIM:224250
Hinman Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral...	ORPHA:84085
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
Desmoid Tumor	Malabsorption, Desmoid tumors, Abnormality of the upper urinary tract, Intestinal obstruction, In...	ORPHA:873
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count	OMIM:618982
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Senior-Loken Syndrome 4	Anemia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:606996
Hydrolethalus	Hydrocephalus, Abnormality of the sense of smell, Anencephaly, Arrhinencephaly, Agenesis of corpu...	ORPHA:2189
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619375
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Joubert Syndrome 4	Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ...	OMIM:609583
Vesicoureteral Reflux 3	Hydroureter, Vesicoureteral reflux, Hydronephrosis	OMIM:613674
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C...	OMIM:300853
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Hyposthenuria, Tubulointerstitial fibr...	OMIM:256100
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Musk, Inability To Smell	Anosmia	OMIM:254150
Renal Hypoplasia	Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ...	ORPHA:93101
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration	OMIM:607665
Freesia Flowers, Inability To Smell	Specific anosmia	OMIM:229250
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Short nose, Short nasal septum, Anosmia	OMIM:302950
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome	Depressed nasal bridge, Anosmia	OMIM:113480
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Tubulointerstitial fibrosis, Growth de...	OMIM:606966
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:614838
Congenital Disorder Of Glycosylation, Type Iig	High palate, Cleft palate, Anemia, Hypospadias, Rhizomelia, Renal insufficiency, Hydronephrosis, ...	OMIM:611209
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Lymphopenia, Neutropenia, Cutaneous abscess, Reduced natural killer cell count	OMIM:619752
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Congenital Megacalycosis	Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg...	ORPHA:93109
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Intestinal obstruction, Decreased prop...	ORPHA:543
Myopathy, Congenital, Progressive, With Scoliosis	High palate, Cryptorchidism, Hydronephrosis, Dysphagia, Renal atrophy	OMIM:618578
Renal Tubular Acidosis, Distal, 1	Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia	OMIM:179800
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, Monocytosis, He...	OMIM:614470
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:612702
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Fanconi Renotubular Syndrome 3	Elevated circulating creatinine concentration, Aminoaciduria	OMIM:615605
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ...	ORPHA:277
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Gastroesophageal reflux, High, narrow palate, Cleft palate, Renal agenesis, Renal hypoplasia, Hyd...	OMIM:618494
Immunodeficiency 64	Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ...	OMIM:618534
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Hydroureter, Thrombocytopenia, Hydronephrosis, Neutropenia, Sideroblastic a...	OMIM:598500
Nephronophthisis 19	Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis, Splenomegaly	OMIM:616217
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Dyskeratosis Congenita, Autosomal Recessive 5	Colitis, Leukopenia, Esophageal stenosis, Nail dystrophy, Bone marrow hypocellularity, Postnatal ...	OMIM:615190
Wolfram Syndrome 1	Megaloblastic anemia, Testicular atrophy, Hydroureter, Thrombocytopenia, Hypothyroidism, Hydronep...	OMIM:222300
Lymphangiectasia, Intestinal	Malabsorption, Abnormal hair morphology, Lymphopenia, Intestinal lymphangiectasia, Stillbirth	OMIM:152800
Gorlin Syndrome	Abnormality of the sense of smell, Hydrocephalus, Wide nasal bridge	ORPHA:377
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Tetraploidy	Renal hypoplasia/aplasia, Cleft palate, Hydronephrosis, Aplasia/Hypoplasia of the thymus, Intraut...	ORPHA:3305
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
8P23.1 Duplication Syndrome	Adrenal insufficiency, Highly arched eyebrow, Hydronephrosis	ORPHA:251076
Prune Belly Syndrome	Anal atresia, Cryptorchidism, Hydroureter, Xerostomia, Hydronephrosis, Urethral valve, Congenital...	OMIM:100100
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Short stat...	OMIM:618935
Immunodeficiency 31C	Lymphopenia, Short stature, Villous atrophy, Delayed puberty, Autoimmune hemolytic anemia, Growth...	OMIM:614162
Acute Transverse Myelitis	Urinary bladder sphincter dysfunction, Paralytic ileus, Priapism, Abscess, Urinary retention, Abn...	ORPHA:139417
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr...	ORPHA:2704
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Juvenile Huntington Disease	Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Gait ataxia, Weight loss	ORPHA:248111
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary renal cell carci...	ORPHA:319487
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Mu-Heavy Chain Disease	Anemia, Lymphadenopathy, Abnormal B cell count, Splenomegaly	ORPHA:100024
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Holoprosencephaly, Pyriform aperture stenosis, Choanal atresia, ...	OMIM:147250
Orofaciodigital Syndrome Xv	Lobulated tongue, Hydronephrosis	OMIM:617127
Body Mass Index Quantitative Trait Locus 19	Anosmia, Hyposmia	OMIM:617885
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Huntington Disease-Like 2	Weight loss, Bradykinesia	OMIM:606438
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Hypertrichosis, Cleft palate, Short stature, Nephroblastoma, Ur...	ORPHA:97297
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Gastroesophageal reflux, Fair hair, Splenomegaly, Hepatosplenom...	OMIM:608233
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Cleft palate, Vesicoureteral reflux, Hydronephrosis, Short stature	OMIM:618265
Renal Dysplasia	Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec...	ORPHA:93108
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:610628
Thyrotoxic Periodic Paralysis	Graves disease, Hyperthyroidism, Hyperhidrosis, Urinary retention, Thyrotoxicosis with toxic sing...	ORPHA:79102
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Idiopathic Achalasia	Weight loss	ORPHA:930
Hereditary Central Diabetes Insipidus	Weight loss, Lethargy	ORPHA:30925
Autoimmune Lymphoproliferative Syndrome, Type Iii	Nephrotic syndrome, Splenomegaly, Alopecia, Increased proportion autoreactive unresponsive CD21-/...	OMIM:615559
Hereditary Amyloidosis With Primary Renal Involvement	Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Proteinuria, Hypogonad...	ORPHA:85450
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Nephronophthisis 18	Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti...	OMIM:615862
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopathy	OMIM:603552
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Johanson-Blizzard Syndrome	Anal atresia, Malabsorption, Exocrine pancreatic insufficiency, Hypoplasia of penis, Alopecia, Sh...	ORPHA:2315
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Netherton Syndrome	Sparse scalp hair, Malabsorption, Aminoaciduria, Sparse eyebrow, Sparse eyelashes, Short stature,...	ORPHA:634
Nephronophthisis 16	Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro...	OMIM:615382
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypocystinemia	OMIM:617744
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Postnatal growth retardation, Intrauterine growt...	OMIM:616733
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormality of the lymph nodes	ORPHA:33111
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse...	ORPHA:210122
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Hypertrichosis, Gastroesophageal reflux, Abnormal T cell subset distribution, Unilateral renal ag...	ORPHA:221139
Camurati-Engelmann Disease	Splenomegaly, Leukopenia, Urinary retention, Delayed puberty, Hypogonadism, Anemia	ORPHA:1328
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia	Anosmia, Hyposmia	OMIM:608720
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Le...	OMIM:243150
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Nephronophthisis 15	Nephronophthisis	OMIM:614845
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Anal atresia, Renal hypoplasia/aplasia, Intestinal malrotation, Tracheo...	ORPHA:2973
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis, Short stature	ORPHA:474
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Williams-Beuren Region Duplication Syndrome	High palate, Decreased response to growth hormone stimulation test, Short stature, Unilateral ren...	OMIM:609757
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Colitis, Lymphocytosis, Inflammation of the large intestine, Iron deficiency a...	OMIM:301074
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:244200
Uremic Pruritus	Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia	ORPHA:94059
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien...	OMIM:604387
Coach Syndrome 1	Nephronophthisis, Splenomegaly, Unilateral renal agenesis, Renal cyst, Esophageal varix, Multiple...	OMIM:216360
Distal Trisomy 6P	Abnormal hair quantity, Short stature, Abnormality of the urinary system, Renal hypoplasia, Abnor...	ORPHA:1745
Ritscher-Schinzel Syndrome 1	Anal atresia, Decreased response to growth hormone stimulation test, Cleft palate, Hypospadias, H...	OMIM:220210
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Weight loss, Gait ataxia, Cachexia	OMIM:612075
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Anemia, Lymphadenopathy	OMIM:613101
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, Tubulointerstit...	OMIM:263200
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Ataxia, Weight loss	OMIM:613662
Peroxisome Biogenesis Disorder 9B	Anosmia	OMIM:614879
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	High palate, Hypertrichosis, Micropenis, Splenomegaly, Pulmonary lymphangiectasia, Hepatosplenome...	ORPHA:1655
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Nephronophthisis 11	Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Tubular basement membrane disintegrati...	OMIM:613550
Rhyns Syndrome	Chronic kidney disease, Decreased response to growth hormone stimulation test, Nephronophthisis, ...	OMIM:602152
Bile Acid Malabsorption, Primary, 1	Growth delay, Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Decreased proportion of naive T cells, Colitis, Gastritis, Splenomegaly, Follicu...	OMIM:619381
Parkes Weber Syndrome	Urinary retention, Nephrotic syndrome, Abnormality of the urinary system, Abnormal lymphatic vess...	ORPHA:90307
Visceral Myopathy 2	Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en...	OMIM:619350
Hyperostosis Cranialis Interna	Anosmia, Hyposmia	OMIM:144755
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Neutropenia, Severe Congenital, 4, Autosomal Recessive	High palate, Lymphopenia, Cleft palate, Splenomegaly, Anemia, Hepatosplenomegaly, Hypoplasia of t...	OMIM:612541
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Nephrolithiasis, Hydroureter, Pyloric stenosis, Postnatal growth retardation, Vesicoureteral reflux	OMIM:617219
Sacral Defect With Anterior Meningocele	Urinary retention, Rectal abscess, Neurogenic bladder	OMIM:600145
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Abnormal tongue morphology, Postnatal growth retardation, Cryptorchidism, Gastroi...	ORPHA:531151
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Short stature, Splenomegaly, Hypopigmentation of ...	OMIM:618541
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:86893
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Cat Eye Syndrome	Anal atresia, Rectal fistula, Cleft palate, Short stature, Renal agenesis, Intestinal malrotation...	OMIM:115470
Junctional Epidermolysis Bullosa With Pyloric Atresia	Aplasia of the bladder, Intestinal atresia, Ureterocele, Renal duplication, Hematuria, Urethral s...	ORPHA:79403
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:545
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Anal atresia, Urethral atresia, Tracheoesophageal fistula, Enlarged kidney, Hydronephrosis	OMIM:314390
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	High palate, Hypertrichosis, Cleft palate, Micropenis, Splenomegaly, Pulmonary lymphangiectasia, ...	OMIM:235255
Joubert Syndrome 37	High palate, Sparse hair, Micropenis, Short stature, Decreased testicular size, Hydronephrosis, C...	OMIM:619185
Huntington Disease	Abnormality of the sense of smell	ORPHA:399
Recombinant Chromosome 8 Syndrome	Growth delay, Hydronephrosis, Postnatal growth retardation, Cryptorchidism, Low posterior hairline	OMIM:179613
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hereditary Renal Hypouricemia	Increased blood urea nitrogen, Hypouricemia	ORPHA:94088
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Malakoplakia	Dysuria, Neoplasm of the rectum, Neoplasm of the colon, Orchitis, Follicular hyperplasia, Abnorma...	ORPHA:556
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Synophrys, Hydr...	OMIM:618161
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble...	ORPHA:424019
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Short stature, Nephronophthisis, Splenomegaly	OMIM:615630
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:601859
Bor Syndrome	Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Ureteropelvic junction obst...	ORPHA:107
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenomegaly, Hepatos...	OMIM:612840
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat...	OMIM:618986
Selective Igm Deficiency	Neutropenia in presence of anti-neutropil antibodies, Cellulitis, Decreased proportion of transit...	ORPHA:331235
Chronic Hiccup	Weight loss	ORPHA:396
Joubert Syndrome 15	Nephronophthisis, Micropenis	OMIM:614464
Isaacs Syndrome	Weight loss	ORPHA:84142
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Hydroureter, Hydronephrosis, Microcolon, Megacystis	OMIM:619431
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge	OMIM:210745
Webb-Dattani Syndrome	Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Hydronephrosis, P...	OMIM:615926
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n...	OMIM:602088
Senior-Loken Syndrome 3	Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease	OMIM:606995
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hirsutism, Narrow palate, Mild postnatal growth retardation, Thyroid lymphangiectasia, Rectal pro...	OMIM:235510
Feingold Syndrome Type 1	Anal atresia, Duodenal atresia, Nephritis, Short stature, Abnormality of the kidney, Esophageal a...	ORPHA:391641
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Lymphadenitis, Hepatosplenomegaly, Eosinophilia, Abnormal B c...	ORPHA:331206
Diabetes Insipidus, Neurohypophyseal, X-Linked	Central diabetes insipidus, Polyuria, Hydronephrosis	OMIM:304900
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cryptorchidism, Hydronephrosis, Frontal upsweep of hair	OMIM:619797
Vacterl/Vater Association	Anal atresia, Hypoplasia of penis, Cleft palate, Renal agenesis, Hypospadias, Tracheoesophageal f...	ORPHA:887
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, Decreased ...	OMIM:607594
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cleft palate, Sparse hair, Hydronephrosis	OMIM:616449
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Intrauterine growth retardation, Hirsutism, Micropenis, Short stature, Hypospadias, Leukopenia, D...	OMIM:301056
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thr...	OMIM:304790
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Indifference To Pain, Congenital, Autosomal Recessive	Anosmia, Hyposmia	OMIM:243000
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hypogonadism, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:616629
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Hodgkin Lymphoma	Ataxia, Weight loss	ORPHA:98293
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia	OMIM:617718
Narcolepsy 7	Narcolepsy, Obesity	OMIM:614250
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Intrauterine growth retardation, Hypoplasia of penis, Abnormal hair pattern, Hydronephrosis, Grow...	ORPHA:2083
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Lipodystrophy, Increased CD4:CD8 ratio, Thrombocytopenia, Dec...	OMIM:618048
Inflammatory Bowel Disease (Crohn Disease) 30	Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int...	OMIM:619079
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Communicating hydrocephalus, Chronic rhinitis, Recurrent bronchitis, Anosmia	OMIM:244400
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Lacticaciduria, Protein-losing enteropathy	OMIM:619063
Koolen-De Vries Syndrome	Abnormality of hair texture, Narrow palate, High, narrow palate, Cleft palate, Short stature, Hyp...	ORPHA:96169
Trisomy 17P	High palate, Generalized hirsutism, Hypoplasia of penis, Cleft palate, Macroglossia, Short statur...	ORPHA:261290
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Neutropenia in presence of anti-neutropil antibodies, Nephritis, Coombs-posit...	OMIM:603909
22Q11.2 Duplication Syndrome	Growth delay, Cleft palate, Urethral stenosis, Hydronephrosis, Displacement of the urethral meatu...	ORPHA:1727
Interstitial Cystitis	Dyspareunia, Abnormality of the urethra, Nocturia, Urinary urgency, Abnormality of the menstrual ...	ORPHA:37202
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects	Ureteral atresia, Hydronephrosis	OMIM:183802
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
3C Syndrome	Ectopic anus, Anal atresia, Gastroesophageal reflux, Hypoplasia of penis, Cleft palate, High, nar...	ORPHA:7
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Matthew-Wood Syndrome	Annular pancreas, Intrauterine growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal s...	ORPHA:2470
Mulibrey Nanism	Cachexia	ORPHA:2576
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Duplication Of Urethra	Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Anal atresia, Mic...	ORPHA:237
Nijmegen Breakage Syndrome	Anal atresia, Recurrent infection of the gastrointestinal tract, Cleft palate, Short stature, Rec...	OMIM:251260
Mckusick-Kaufman Syndrome	Urogenital sinus anomaly, High palate, Ectopic anus, Renal hypoplasia/aplasia, Anal atresia, Clef...	ORPHA:2473
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Trisomy 13	High, narrow palate, Cleft palate, Abnormality of the ureter, Multiple renal cysts, Abnormal eyel...	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Iie	Hypertrichosis, Low anterior hairline, Gastroesophageal reflux, Splenomegaly, Short stature, Prot...	OMIM:608779
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Hydronephrosis, Fetal megacystis, Microcolon, Megacystis	OMIM:619362
Multiple Osteochondromas	Dysphagia, Urinary retention, Intestinal obstruction, Short stature	ORPHA:321
Disseminated Sclerosis With Narcolepsy	Narcolepsy	OMIM:223300
Central Diabetes Insipidus	Failure to thrive, Weight loss, Lethargy	ORPHA:178029
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:618495
Spinocerebellar Ataxia 48	Cachexia, Ataxia, Gait ataxia, Dysmetria	OMIM:618093
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Cleft palate, Short stature, Intestinal malrotation, Hydronephrosis, Gro...	ORPHA:457193
Multicentric Reticulohistiocytosis	Cachexia	ORPHA:139436
Zellweger Syndrome	High palate, Malabsorption, Short stature, Hypospadias, Multicystic kidney dysplasia, Pyloric ste...	ORPHA:912
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,...	ORPHA:54251
Weyers Ulnar Ray/Oligodactyly Syndrome	High palate, Cleft palate, Hydronephrosis	OMIM:602418
Marcus-Gunn Syndrome	Abnormality of the sense of smell, Choanal atresia	ORPHA:91412
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Oculoskeletodental Syndrome	Low anterior hairline, Macroglossia, Splenomegaly, Renal agenesis, Short stature, Hypercalciuria,...	OMIM:618440
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy...	ORPHA:3467
Baller-Gerold Syndrome	High palate, Anal atresia, Malabsorption, Intrauterine growth retardation, Cleft palate, Short st...	ORPHA:1225
Lig4 Syndrome	Malabsorption, Low anterior hairline, Hypoplasia of penis, Leukocytosis, Hypothyroidism, Pancytop...	ORPHA:99812
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia	OMIM:613502
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular size	OMIM:615287
Stromme Syndrome	Duodenal atresia, Cleft palate, Intestinal malrotation, Bilateral renal hypoplasia, Accessory spl...	OMIM:243605
Cyclic Neutropenia	Lymphopenia, Cellulitis, Recurrent tonsillitis, Cervical lymphadenopathy, Cyclic neutropenia, Per...	ORPHA:2686
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormality of the nares, Short nose, Anosmia	ORPHA:1295
Histidinemia	Hyperhistidinemia, Histidinuria	OMIM:235800
Laryngeal Neuroendocrine Tumor	Weight loss	ORPHA:100083
Proteasome-Associated Autoinflammatory Syndrome 4	Flexion contracture, Splenomegaly, Generalized lipodystrophy, Autoimmune hemolytic anemia, Lympha...	OMIM:619183
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Anosmia, Hyposmia	OMIM:614897
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatosplenomegaly, Duplicated collecting system, Esophagitis, Hydronephrosis, Growth delay, Intr...	ORPHA:541423
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Panniculitis	OMIM:615758
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th...	OMIM:266900
Galactose Epimerase Deficiency	Weight loss	ORPHA:79238
Fryns Syndrome	High palate, Ectopic anus, Anal atresia, Duodenal atresia, Gastroesophageal reflux, Cleft palate,...	ORPHA:2059
Cholestasis, Progressive Familial Intrahepatic, 2	Short stature, Splenomegaly, Death in childhood, Hepatocellular carcinoma, Fat malabsorption	OMIM:601847
Secondary Short Bowel Syndrome	Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill...	ORPHA:95427
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr...	ORPHA:158684
Medullary cystic kidney disease 2	Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla...	OMIM:603860
Alström Syndrome	Pancreatitis, Decreased fertility in males, Hypergonadotropic hypogonadism, Hyoplasia of the Leyd...	ORPHA:64
Bardet-Biedl Syndrome 17	Anosmia, Hyposmia	OMIM:615994
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Lipodystrophy, Increased proportion of CD4-positive T cells, Lymphade...	OMIM:617099
Igg4-Related Retroperitoneal Fibrosis	Dysuria, Hydrocele testis, Nephrotic syndrome, Impotence, Normocytic anemia, Hematuria, Membranou...	ORPHA:49041
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Splenomegaly, Mastocytosis, Increased proportion of CD25+ mast cel...	ORPHA:98848
Nephronophthisis-Like Nephropathy 1	Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba...	OMIM:613159
Suleiman-El-Hattab Syndrome	High palate, Hirsutism, Thick eyebrow, Frontal hirsutism, Synophrys, Hydronephrosis, Cryptorchidi...	OMIM:618950
Intellectual Developmental Disorder, Autosomal Dominant 53	Duodenal atresia, Micropenis, Intestinal malrotation, Frontal upsweep of hair, Hydronephrosis, Gr...	OMIM:617798
Diabetic Embryopathy	Renal hypoplasia/aplasia, Cleft palate, Micropenis, Ureteral duplication, Hydronephrosis, Cryptor...	ORPHA:1926
Macrophage Activation Syndrome	Neutropenia, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Abnormal natural killer cell count...	ORPHA:158061
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Griscelli Syndrome	Abnormal eyebrow morphology, Splenomegaly, Short stature, Leukopenia, Thrombocytopenia, Silver-gr...	ORPHA:381
Johnson Neuroectodermal Syndrome	Bulbous nose, Choanal atresia, Anosmia	ORPHA:2316
Xanthinuria, Type I	Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis	OMIM:278300
Joubert Syndrome 7	Renal cyst, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611560
Duodenal Neuroendocrine Tumor	Melena, Elevated circulating growth hormone concentration, Hematemesis, Increased hematocrit, Int...	ORPHA:100076
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu...	ORPHA:449395
Czeizel-Losonci Syndrome	High palate, Congenital megaureter, Tracheoesophageal fistula, Abnormality of the urinary system,...	ORPHA:2437
Chronic Diarrhea Due To Glucoamylase Deficiency	Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac...	ORPHA:103907
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Mosaic Trisomy 9	High palate, Hypoplasia of penis, Cleft palate, Intestinal malrotation, Multiple renal cysts, Ren...	ORPHA:99776
Heme Oxygenase 1 Deficiency	Nephritis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hematuria, Hemolytic anemi...	OMIM:614034
Senior-Boichis Syndrome	Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Anemia, He...	ORPHA:84081
Lymphoproliferative Syndrome 1	Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased proportion of ...	OMIM:613011
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Kleefstra Syndrome	Gastroesophageal reflux, Hypoplasia of penis, Supernumerary nipple, Micropenis, Macroglossia, Hyp...	ORPHA:261494
Toluene Embryopathy	Cryptorchidism, Abnormal localization of kidney, Hydronephrosis, Short stature	ORPHA:1920
Bladder Diverticulum	Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he...	OMIM:109820
Aapoaiv Amyloidosis	Chronic kidney disease, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, A...	ORPHA:439232
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Agranulocytosis, Neutropenia...	OMIM:301078
X-Linked Dominant Chondrodysplasia Punctata	High palate, Sparse eyebrow, Sparse eyelashes, Patchy alopecia, Short stature, Coarse hair, Sever...	ORPHA:35173
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Oligomeganephronia	Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral...	ORPHA:2260
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Thrombocytopenia, Erythroid hypoplasia,...	ORPHA:101096
Refractory Celiac Disease	Malabsorption, Increased proportion of HLA DR+ T cells, Normocytic anemia, Macrocytic anemia, Abn...	ORPHA:398063
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Gastrointestinal obstruction, Functional intestinal obstruction, Intestin...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Iron deficiency anemia, Gastrointestinal obstruction, Functional intestinal obstruction, Intestin...	ORPHA:100077
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Malrotation of small bowel, Renal agenesis, Hypoplasia of...	ORPHA:139466
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, High, narrow palate, Short stature, Aplasia/Hypoplasia of the uvula,...	ORPHA:2496
Microphthalmia, Syndromic 9	Multilobulated spleen, Short stature, Renal hypoplasia, Horseshoe kidney, Hypoplastic spleen, Hyd...	OMIM:601186
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	High palate, Gastroesophageal reflux, Aminoaciduria, Renal hypoplasia, Hydronephrosis, Dysphagia	OMIM:617913
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Cleft palate, Unilateral renal agenesis, Severe postnatal growth retardation,...	ORPHA:2237
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Renal cyst, Villous atrophy, Protein-losing enteropathy, Proximal tubulopathy, Lymph...	OMIM:602579
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	High palate, Growth delay, Cleft palate, Hydronephrosis	ORPHA:488613
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Developmental Delay With Or Without Dysmorphic Facies And Autism	Supernumerary nipple, Cleft palate, Short stature, Highly arched eyebrow, Renal cyst, Renal hypop...	OMIM:618454
Kury-Isidor Syndrome	High palate, Hypertrichosis, Alopecia, Hydronephrosis, Growth delay	OMIM:619762
Tularemia	Cutaneous abscess, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenop...	ORPHA:3392
Micro Syndrome	High palate, Generalized hirsutism, Hypoplasia of penis, Short stature, Abnormal localization of ...	ORPHA:2510
Primary Hyperoxaluria Type 3	Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab...	ORPHA:93600
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Fish-Eye Disease	Lymphadenopathy, Splenomegaly	ORPHA:79292
Johnson Neuroectodermal Syndrome	Anosmia, Choanal stenosis	OMIM:147770
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ...	OMIM:602450
Penile Agenesis	Anal atresia, Urethral atresia, male, Rectal fistula, Urethral fistula, Cryptorchidism, Tracheoes...	ORPHA:49
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly	ORPHA:2584
Leishmaniasis	Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancytopenia, Anemia,...	ORPHA:507
Igg4-Related Aortitis	Intestinal obstruction, Hypereosinophilia, Hydronephrosis	ORPHA:449400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyebrow, Facial hirsutism, Cleft palate, Anteriorly placed anus, Central diabetes insipidu...	OMIM:604292
Joubert Syndrome 3	Highly arched eyebrow, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:608629
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic...	ORPHA:105
Refsum Disease, Classic	Anosmia	OMIM:266500
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss, Lethargy	OMIM:143880
Septo-Optic Dysplasia Spectrum	Agenesis of corpus callosum, Anosmia	ORPHA:3157
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis	OMIM:618060
Distal Tetrasomy 15Q	Hydrocele testis, High palate, Abnormality of the kidney, Nephroblastoma, Polycystic kidney dyspl...	ORPHA:314588
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis	OMIM:619218
Zaki Syndrome	Sparse scalp hair, High palate, Sparse eyebrow, Short stature, Renal agenesis, Hydronephrosis, Sp...	OMIM:619648
Hardikar Syndrome	Hypoplasia of the bladder, Bladder exstrophy, Esophageal varix, Bile duct proliferation, Splenome...	OMIM:301068
Oculopharyngodistal Myopathy	Loss of ambulation, Difficulty walking, Weight loss	ORPHA:98897
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Eec Syndrome	Renal hypoplasia/aplasia, Urethral atresia, Thick eyebrow, Sparse eyebrow, Decreased response to ...	ORPHA:1896
Kufor-Rakeb Syndrome	Anosmia, Hyposmia	OMIM:606693
Congenital Muscular Dystrophy Due To Lmna Mutation	Gait disturbance, Cachexia	ORPHA:157973
Trisomy 1Q	Anal atresia, Cleft palate, Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis, ...	ORPHA:261344
Trisomy 20P	Ectopic anus, Thick hair, Low anterior hairline, Thick eyebrow, Abnormality of the kidney, Abnorm...	ORPHA:261318
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia	OMIM:613095
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Pallister-Hall Syndrome	Anal atresia, Distal urethral duplication, Decreased response to growth hormone stimulation test,...	OMIM:146510
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Thrombocytopenia, Pa...	OMIM:308240
Chromosome 2P16.1-P15 Deletion Syndrome	High palate, High, narrow palate, Micropenis, Short stature, Decreased testicular size, Hypogonad...	OMIM:612513
Noonan Syndrome 4	Cryptorchidism, Sparse eyebrow, Short stature, Ureteral duplication, Hydronephrosis, High anterio...	OMIM:610733
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Gastroesophageal reflux, Hypoplasia of penis, Macroglossia, Short stature, A...	ORPHA:847
Holoprosencephaly	Hydrocephalus, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Holoprosencephaly, H...	ORPHA:2162
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Hydrocele testis, High palate, Anal atresia, Ureteral hypoplasia, Gastroesophageal reflux, Bladde...	OMIM:614080
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Pa...	OMIM:616307
Dubowitz Syndrome	Hypoparathyroidism, Sparse scalp hair, High palate, Low anterior hairline, Malabsorption, Short s...	ORPHA:235
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us