Gene Summary

Name:
inhibitor of DNA binding 2
Synonyms:
inhibitor of differentiation 2,  Idb2,  bHLHb26,  C78922

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Id2tm2b(EUCOMM)Wtsi HET Early adult 2.99×10-05
increased circulating creatinine level Id2tm2b(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

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.

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 Similarity of
phenotypes
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...