Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ret proto-oncogene
Synonyms:
RET51,  RET9,  c-Ret

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ret mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Paragangliomas 5
Paraganglioma OMIM:614165
Insulinoma Tumor Suppressor Gene Locus
Insulinoma OMIM:606960
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Paragangliomas 7
Pheochromocytoma, Paraganglioma OMIM:618475
Carcinoid Tumors, Intestinal
Intestinal carcinoid OMIM:114900
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Adrenocortical Carcinoma, Hereditary
Adrenocortical carcinoma OMIM:202300
Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas
Retroperitoneal chemodectomas, Chemodectoma, Cutaneous angiolipomas OMIM:118350
Paraganglioma And Gastric Stromal Sarcoma
Neoplasm of the gastrointestinal tract, Paraganglioma OMIM:606864
Schwannomatosis 2
Schwannoma, Spinal cord tumor OMIM:615670
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
Pheochromocytoma, Carcinoid tumor, Neurofibromas OMIM:162240
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Carcinoma, Familial Medullary
Medullary thyroid carcinoma OMIM:155240
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Goiter, Thyroid carcinoma OMIM:274700
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide OMIM:274500
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Schwannomatosis 1
Schwannoma, Meningioma, Spinal cord tumor OMIM:162091
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 OMIM:188570
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Pituitary Adenoma, Prolactin-Secreting
Pituitary prolactin cell adenoma, Prolactinoma OMIM:600634
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus, Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesic... OMIM:617805
Vesicoureteral Reflux 3
Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Pelvic Lipomatosis With Crossed Renal Ectopia
Ectopic kidney OMIM:169545
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Bardet-Biedl Syndrome 10
Renal insufficiency, Hypogonadism, Renal cyst, Abnormality of the kidney OMIM:615987
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Hyperthyroidism, Nonautoimmune
Goiter, Hyperthyroidism, Thyroid hyperplasia OMIM:609152
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Rhabdomyosarcoma, Embryonal, 2
Goiter, Multinodular goiter, Pleuropulmonary blastoma, Nephroblastoma, Ovarian thecoma, Thyroid n... OMIM:180295
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Renal dysplasia, Bicornuate uterus, Ectopic kidney... ORPHA:2578
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Ureterovesical stenosis, Micropenis OMIM:268650
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pheochromocytoma, Cardiac myxoma, Thyroid foll... OMIM:160980
Adrenal Hypoplasia, Cytomegalic Type
Primary adrenal insufficiency, Congenital adrenal hypoplasia OMIM:202155
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Congenital Primary Megaureter
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... ORPHA:617
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, External genital hypoplasia OMIM:605231
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Isolated Osteopoikilosis
Ectopic kidney ORPHA:166119
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis OMIM:236110
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Renal dysplasia, Renal cyst, Renal agenesis, Hy... OMIM:615993
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Seckel Syndrome 8
Ectopic kidney OMIM:615807
Multiple Endocrine Neoplasia, Type Iia
Increased circulating cortisol level, Pheochromocytoma, Aganglionic megacolon, Thyroid C cell hyp... OMIM:171400
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Dysmyelination With Jaundice
Cryptorchidism, Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Meier-Gorlin Syndrome 8
Renal hypoplasia, Bilateral cryptorchidism OMIM:617564
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis OMIM:202150
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Schizophrenia 1
Renal agenesis, Partially duplicated kidney, Ectopic kidney OMIM:181510
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Paragangliomas 1
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... OMIM:168000
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Nep... OMIM:614131
Atresia Of Small Intestine
Feeding difficulties, Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Vomiting, S... ORPHA:1201
Medullary Thyroid Carcinoma
Elevated calcitonin, Pheochromocytoma, Neoplasm of the skeletal system, Primary hyperparathyroidi... ORPHA:1332
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Senior-Loken Syndrome
Nephronophthisis, Chronic kidney disease, Premature ovarian insufficiency, Stage 5 chronic kidney... ORPHA:3156
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Neoplasm of head and neck, Goiter, Nodular goiter, Papillary renal cell carcinoma, Breast carcino... ORPHA:97290
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Goiter OMIM:274300
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:615573
Blepharochalasis And Double Lip
Goiter OMIM:109900
Mungan Syndrome
Megaduodenum, Renal hypoplasia, Intestinal pseudo-obstruction, Hypoperistalsis, Vesicoureteral re... OMIM:611376
Jejunal Atresia
Jejunal atresia OMIM:243600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidn... OMIM:601076
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis, Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Thymic-Renal-Anal-Lung Dysplasia
Ureteral dysgenesis, Oligohydramnios, Anal atresia, Renal agenesis, Ureteral agenesis OMIM:274265
Paragangliomas 3
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Neoplasm, Elevated circulating catechola... OMIM:605373
Rhyns Syndrome
Nephronophthisis, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
7P22.1 Microduplication Syndrome
Cryptorchidism, Abnormality of the kidney ORPHA:314034
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Anal atresia, Aganglionic megacolon OMIM:235760
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:600995
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Renal Tubular Dysgenesis
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Proximal tubulopathy, Renotubular dysgenes... ORPHA:3033
Renal Agenesis
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Absent vas deferens,... ORPHA:411709
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Bardet-Biedl Syndrome 4
Cryptorchidism, External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the kidney OMIM:615982
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Macdermot-Winter Syndrome
Hypoplastic male external genitalia, Hydronephrosis OMIM:247990
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Paragangliomas 2
Vagal paraganglioma, Neoplasm, Chemodectoma, Glomus jugular tumor, Glomus tympanicum paraganglioma OMIM:601650
Colonic Atresia
Abdominal distention, Colonic atresia OMIM:303650
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Osteocho... ORPHA:1359
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Familial Papillary Or Follicular Thyroid Carcinoma
Neoplasm of head and neck, Goiter, Nodular goiter, Papillary renal cell carcinoma, Follicular thy... ORPHA:319487
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Chronic kidney disease, Patent ductus arteriosus OMIM:617661
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Galloway-Mowat Syndrome 8
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Protein... OMIM:618349
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Image Syndrome
Hypogonadism, Hypospadias, Cryptorchidism, Hydronephrosis ORPHA:85173
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Chondrosarcoma, Hemangiomatosis, Mul... ORPHA:163634
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Asci... ORPHA:1046
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Paragangliomas 4
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... OMIM:115310
Lactose Intolerance, Adult Type
Flatulence, Abdominal pain, Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lact... OMIM:223100
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Frasier Syndrome
Focal segmental glomerulosclerosis, Gonadal dysgenesis, Stage 5 chronic kidney disease, Nephrotic... OMIM:136680
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Nphp3-Related Meckel-Like Syndrome
Polyhydramnios, Oligohydramnios, Intestinal malrotation, Multicystic kidney dysplasia, Renal dysp... ORPHA:3032
Caudal Regression Sequence
Cryptorchidism, Ambiguous genitalia, Renal agenesis, Abnormality of the ureter, Vesicoureteral re... ORPHA:3027
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Joubert Syndrome 15
Nephronophthisis, Micropenis, Ambiguous genitalia OMIM:614464
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia OMIM:225250
Urofacial Syndrome 1
Cryptorchidism, Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infect... OMIM:236730
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Nephronophthisis 15
Nephronophthisis OMIM:614845
Nephronophthisis 18
Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:615862
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Motor Neuropathy, Peripheral, With Dysautonomia
Abnormal autonomic nervous system physiology, Achalasia, Orthostatic hypotension, Decreased nerve... OMIM:252320
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis OMIM:614196
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Seckel Syndrome 2
Hypospadias, Ectopic kidney OMIM:606744
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Oligohydramnios, Renal hypoplasia, Renal dysplasia, Neonatal death, Pul... OMIM:236500
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Oligohydramnios, Recurrent urinary tract infections, Recurrent respiratory infections... OMIM:619365
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis OMIM:617056
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal segmental glomeruloscl... ORPHA:347
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:603278
Androgen Insensitivity, Partial
Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadias, Male pseud... OMIM:312300
Hypertelorism-Microtia-Facial Clefting Syndrome
Crossed fused renal ectopia, Horseshoe kidney ORPHA:2213
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse m... OMIM:610725
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Pancreatic cysts, Stage 5 chronic kidney di... OMIM:614377
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Oligohydramnios, Nephropathy, Multicystic kidn... ORPHA:1909
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Fanconi Anemia, Complementation Group O
Cryptorchidism, External genital hypoplasia, Hydronephrosis, Renal cyst, Stage 5 chronic kidney d... OMIM:613390
14Q24.1Q24.3 Microdeletion Syndrome
Cryptorchidism, Ectopic kidney ORPHA:401935
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst OMIM:228940
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Volvulus Of Midgut
Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal intestinal obstruc... OMIM:193250
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hyperechogenic kidneys OMIM:617914
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Cryptorchidism, Shawl scrotum, Hypoplasia of penis ORPHA:2256
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Cryptorchidism, Ambiguous genitalia, Renal agenesis, Horseshoe kidney, Bifid ureter, Decreased nu... OMIM:617641
Hinman Syndrome
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... ORPHA:84085
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Renal agenesis OMIM:212780
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Short Stature Syndrome, Brussels Type
Horseshoe kidney OMIM:601350
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal i... OMIM:615382
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Abnormal renal morphology, Multiple glomerular cysts, Decreased number... OMIM:137920
Meckel Syndrome 12
Renal hypoplasia, Renal agenesis, Vaginal atresia, Ureteral hypoplasia OMIM:616258
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclerosis, Microscopic ... OMIM:619155
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Thomas Syndrome
Renal hypoplasia/aplasia, Oligohydramnios, Multicystic kidney dysplasia ORPHA:3316
Retinitis Pigmentosa 59
Renal insufficiency, Cryptorchidism, Micropenis OMIM:613861
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Bresek Syndrome
Cryptorchidism, Hypoplasia of the bladder, Renal hypoplasia, Renal dysplasia, Vesicoureteral refl... ORPHA:85284
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Renal cyst OMIM:615583
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Degeneration of anterior horn cells, Proximal amyotrophy OMIM:271150
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler... OMIM:617730
Congenital Bilateral Absence Of Vas Deferens
Abnormal renal morphology, Absent vas deferens, Obstructive azoospermia, Oligospermia ORPHA:48
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Vesicoureteral ref... ORPHA:2470
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... ORPHA:652
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr... OMIM:613496
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ect... ORPHA:3109
Papillorenal Syndrome
Renal malrotation, Horseshoe kidney, Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureter... OMIM:120330
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia OMIM:600151
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Short Stature, Brussels Type
Horseshoe kidney ORPHA:2867
Prune Belly Syndrome
Urogenital sinus anomaly, Oligohydramnios, Hydroureter, Constipation, Patent ductus arteriosus, R... ORPHA:2970
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Renal agenesis, Cryptorchidism, Hydronephrosis OMIM:618494
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Megacystis, Hydroureter, Abnormality of the gastrointestinal tract, Death in infa... ORPHA:2241
Cloacal Exstrophy
Horseshoe kidney, Hydroureter, Abnormality of the clitoris, Ureteropelvic junction obstruction, V... ORPHA:93929
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Stage 5 chronic kidney disease, Chronic tubulointerstitial ... OMIM:614376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Tubulointerstitial nephritis, Stage 5 chronic kidney dis... OMIM:614817
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... OMIM:191800
Hirschsprung Disease
Abdominal pain, Constipation, Aganglionic megacolon, Functional abnormality of the gastrointestin... ORPHA:388
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Renal agenesis, Renal hypoplasia, Patent ductus arteriosus, Hypospadias, Micropenis ORPHA:171839
Visceral Myopathy 1
Megaduodenum, Megacystis, Malnutrition, Abdominal pain, Dysphagia, Constipation, Aganglionic mega... OMIM:155310
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Patent ductus arteriosus, Vaginal atresia, Vesic... OMIM:612726
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Renal hypoplasia, Renal dysplasia, Urethral obstruction, Hypertrophy of the urinary bladder OMIM:601389
Nephrotic Syndrome, Type 14
Cryptorchidism, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syn... OMIM:617575
Denys-Drash Syndrome
Ambiguous genitalia, male, Focal segmental glomerulosclerosis, Nephropathy, Gonadal tissue inappr... OMIM:194080
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Renal ins... ORPHA:1475
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Senior-Loken Syndrome 9
Nephronophthisis, Hypogonadism, Tubulointerstitial nephritis, Stage 5 chronic kidney disease OMIM:616629
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Secondary Short Bowel Syndrome
Malnutrition, Small intestinal dysmotility, Villous atrophy, Growth delay, Aganglionic megacolon,... ORPHA:95427
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Hypertelorism, Microtia, Facial Clefting Syndrome
Ectopic kidney OMIM:239800
Multiple Endocrine Neoplasia Type 2
Parathyroid hyperplasia, Ganglioneuromatosis, Neuroma, Pheochromocytoma, Multiple mucosal neuroma... ORPHA:653
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Joubert Syndrome 22
Renal hypoplasia OMIM:615665
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:616730
Isolated Polycystic Liver Disease
Multiple renal cysts, Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Feedi... ORPHA:2924
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Spinal Muscular Atrophy, Type Ii
Spinal muscular atrophy, Degeneration of anterior horn cells, Skeletal muscle atrophy OMIM:253550
Vacterl/Vater Association
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Renal agen... ORPHA:887
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Diarrhea 2, With Microvillus Atrophy
Malnutrition, Villous atrophy, Growth delay, Protracted diarrhea, Abnormal intestine morphology OMIM:251850
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Acrorenal Syndrome, Autosomal Recessive
Renal hypoplasia, Renal insufficiency, Decreased numbers of nephrons OMIM:201310
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Renal insufficiency, Proteinuria OMIM:610205
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Renal tubular atrophy, Renal insufficiency, Diffuse mesangial sclerosis, Co... OMIM:256300
Penoscrotal Transposition
Shawl scrotum, Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality... ORPHA:2842
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
N Syndrome
Hypospadias, Cryptorchidism ORPHA:2608
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Functional intestinal obstruction, Intestinal malrotation, Colonic diverticula OMIM:243180
Glucose/Galactose Malabsorption
Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Malabsorption, Abdominal distention OMIM:606824
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Intestinal pseudo-obstruction, Hydronephrosis, Congenital shortened small... OMIM:300048
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Vesicouret... ORPHA:107
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Malnutrition, Abdominal pain, Constipation, Malabsorption, Abdomina... OMIM:613662
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma, Multinodular goiter OMIM:618373
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Feeding difficulties, Abnormal renal corticomedullary differentiation, Renal dys... OMIM:616733
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Cryptorchidism, Vesicoureteral reflux, Pseudohypoparathyroidism ORPHA:464288
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... OMIM:602088
Congenital Anomalies Of Kidney And Urinary Tract 1
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease OMIM:610805
Isochromosomy Yp
Decreased testicular size, Male infertility, Azoospermia, Primary gonadal insufficiency ORPHA:98797
Ochoa Syndrome
Cryptorchidism, Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, V... ORPHA:2704
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis OMIM:614840
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter OMIM:274400
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Deafness-Vitiligo-Achalasia Syndrome
Achalasia ORPHA:3239
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Micropenis, Hypoplasia of penis ORPHA:85274
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Prune Belly Syndrome
Cryptorchidism, Hydroureter, Urethral valve, Patent ductus arteriosus, Hydronephrosis, Congenital... OMIM:100100
Bardet-Biedl Syndrome 17
External genital hypoplasia, Hypogonadism, Renal cyst, Stage 5 chronic kidney disease OMIM:615994
Myxedema
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration OMIM:255900
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis OMIM:274210
Ciliary Dyskinesia, Primary, 37
Infertility, Hypothyroidism, Goiter OMIM:617577
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Horseshoe kidney, Acute kidney injury, Renal agenesis, Absent vas deferens, ... ORPHA:93111
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis OMIM:613735
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Fanconi Anemia, Complementation Group P
Cryptorchidism, Horseshoe kidney, Pelvic kidney OMIM:613951
Joubert Syndrome 18
Horseshoe kidney OMIM:614815
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Hydronephrosis, Renal atrophy OMIM:618578
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Oligohydramnios OMIM:615397
Diarrhea 9
Villous atrophy OMIM:618168
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Elevated calcitonin, Ganglioneuroma, Pheochromocytoma, Aganglionic megac... OMIM:162300
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Ureteral atresia, Hydronephrosis OMIM:183802
Glutaric Aciduria Iii
Goiter, Hyperthyroidism OMIM:231690
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Cryptorchidism, Bifid scrotum, Renal hypoplasia, Renal dysplasia, Hypoplasia of penis, Renal insu... ORPHA:85321
Axial Mesodermal Dysplasia Spectrum
Morphological abnormality of the gastrointestinal tract, Oligohydramnios, Constipation, Abnormali... ORPHA:1834
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cryptorchidism, Vesicoureteral reflux, Multiple renal cysts ORPHA:1166
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... OMIM:193300
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:614922
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Multinodular goiter, Pilomatri... ORPHA:276399
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Vesicoureteral Reflux 8
Vesicoureteral reflux, Recurrent urinary tract infections, Duplicated collecting system OMIM:615963
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Renal dysplasia, Renal cyst, Stage 5 chronic kidney disease OMIM:266920
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Chronic kidney disease, Renal insufficiency, Anterior... OMIM:602152
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Nephronophthisis 19
Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:616217
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Orofaciodigital Syndrome V
Horseshoe kidney, Aganglionic megacolon, Lobulated tongue, Cleft palate, Bifid uvula OMIM:174300
Microvillus Inclusion Disease
Abnormal renal physiology, Abnormality of small intestinal villus morphology, Villous atrophy, Di... ORPHA:2290
Juberg-Hayward Syndrome
Horseshoe kidney, Decreased response to growth hormone stimuation test OMIM:216100
Alport Syndrome
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Clitoral... ORPHA:63
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micropenis, Cryptorchidism, Microphallus OMIM:218450
Idiopathic Steroid-Resistant Nephrotic Syndrome
Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glomerular viscera... ORPHA:567548
Even-Plus Syndrome
Renal hypoplasia, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:616854
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst OMIM:617874
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Grfoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97261
Distal Trisomy 6P
Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis ORPHA:1745
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicornuate uterus, Rectovaginal fistula, Vesicoureteral reflux, Pelvic kidney, Clitoral hypertrop... OMIM:300707
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, High palate, Pyloric stenosis, Aganglionic megacolon,... OMIM:601095
Roifman-Chitayat Syndrome
Ectopic kidney OMIM:613328
Cirrhosis, Familial
Abdominal distention, Increased level of L-fucose in urine, Esophageal varix OMIM:215600
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Vaginal fistula OMIM:619318
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism OMIM:261550
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Achalasia OMIM:615750
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... OMIM:604387
Hao-Fountain Syndrome
Cryptorchidism, Micropenis OMIM:616863
Thyroid Lymphoma
Goiter, Hypothyroidism, Hashimoto thyroiditis, Lymphoma, Hyperthyroidism ORPHA:97285
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea OMIM:202110
Nephrotic Syndrome, Type 10
Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon... OMIM:615861
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Coenzyme Q10 Deficiency, Primary, 1
Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Glomerular sclerosis, Nephrotic syndrome OMIM:607426
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Skeletal muscle atrophy OMIM:616437
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Morphological abnormality of the gastrointestinal tract, Hematuria, Nasogastric tube feeding, Eso... ORPHA:1018
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic ki... OMIM:618348
12Q14 Microdeletion Syndrome
Horseshoe kidney, Renal hypoplasia, Ectopic kidney ORPHA:94063
Fanconi Anemia, Complementation Group E
Cryptorchidism, Abnormal renal morphology, Horseshoe kidney, Hypergonadotropic hypogonadism, Dupl... OMIM:600901
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Intestinal perforation, Abnormal salivary gland morphology, Abnormal a... ORPHA:314652
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Abnormality of the urinary system, Renal dysplasia, Abnormality of the uret... ORPHA:158684
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis OMIM:614175
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Recurrent urinary tract infections, Patent ductus arteriosus, Endometriosis, Re... OMIM:613680
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Renal insufficiency, Cryptorchidism, Proteinuria ORPHA:1307
Fanconi Anemia, Complementation Group A
Cryptorchidism, Abnormal renal morphology, Horseshoe kidney, Hypergonadotropic hypogonadism, Dupl... OMIM:227650
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Micropenis OMIM:146110
Familial Adenomatous Polyposis
Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, ... ORPHA:733
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Intellectual Developmental Disorder, X-Linked 106
Hypospadias, Cryptorchidism, Decreased testicular size OMIM:300997
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Oligohydramnios, Hydroureter, Intestinal malrotation, Fetal megacystis, Generalized edema OMIM:249210
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Urogenital sinus anomaly, Hydroureter, Multicystic kidney dysplasia, Abnormal internal genitalia,... ORPHA:2973
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Renal hypoplasia, Cryptorchidism OMIM:616817
Joubert Syndrome 20
Renal cyst OMIM:614970
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Fraser Syndrome 2
Renal hypoplasia, Renal agenesis, Aplasia of the bladder, Ambiguous genitalia OMIM:617666
Senior-Loken Syndrome 8
Nephronophthisis, Pancreatic cysts OMIM:616307
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Renal hypoplasia, Patent ductus arteriosus, Vesicoureteral reflux, ... OMIM:603467
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Paragang... ORPHA:139411
Igg4-Related Kidney Disease
Prostatitis, Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, ... ORPHA:449395
Craniosynostosis, Herrmann-Opitz Type
Short nose, Oligohydramnios, Aplasia/Hypoplasia of the lungs, Abnormality of the urethra, Abnorma... ORPHA:2145
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Renal cyst, Hydronephrosis, Decreased testicular size, Micropenis OMIM:615287
6P22 Microdeletion Syndrome
Hydronephrosis, Patent ductus arteriosus ORPHA:251046
Nephrolithiasis, Calcium Oxalate
Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox... OMIM:167030
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Hydroureter, Renal hypoplasia, Patent ductus arteriosus, Thyr... OMIM:146510
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Hashimoto thyroiditis, Breast carcinoma, Intestinal... OMIM:616858
Cach Syndrome
Feeding difficulties, Oligohydramnios, Renal hypoplasia, Dysphagia, Decreased fetal movement, Dys... ORPHA:135
Joubert Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease OMIM:608629
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Athyreosis
Macroglossia, Feeding difficulties, Growth delay, Constipation, Short stature, Abdominal distention ORPHA:95713
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Fanconi Anemia, Complementation Group W
Renal hypoplasia, Decreased response to growth hormone stimuation test OMIM:617784
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Oligohydramnios, Esophageal varix, Neonatal death, ... OMIM:263200
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Diabetic Embryopathy
Cryptorchidism, Abnormal morphology of female internal genitalia, Hydronephrosis, Renal hypoplasi... ORPHA:1926
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Horseshoe kidney, Renal agenesis, Clitoral hypertrophy, Bicornuate uterus, Vesicoureteral reflux,... ORPHA:140952
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia, Aqueductal stenosis, Anal atresia, Hydrocephalus OMIM:276950
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Malignant neoplasm of the central nervous system, Neoplasm ... ORPHA:142
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Aapoaiv Amyloidosis
Renal amyloidosis, Glomerular sclerosis, Chronic kidney disease, Abnormal renal medulla morpholog... ORPHA:439232
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Hypoplasia of the bladder, Renal hypoplasia, Recurrent urinary trac... OMIM:614527
Microphthalmia, Syndromic 9
Cryptorchidism, Horseshoe kidney, Renal malrotation, Renal hypoplasia, Hypoplasia of the uterus, ... OMIM:601186
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Pendred Syndrome
Thyroid carcinoma, Hypothyroidism, Goiter, Hyperparathyroidism ORPHA:705
3Q13 Microdeletion Syndrome
Cryptorchidism, Abnormality of the urinary system, Hypoplasia of penis ORPHA:1621
Craniofacial Dyssynostosis With Short Stature
Hypospadias, Cryptorchidism, Horseshoe kidney, Patent ductus arteriosus OMIM:218350
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Gonadal dysgenesis, Polycystic ovaries, Abnormality of the ureter ORPHA:1770
Mulchandani-Bhoj-Conlin Syndrome
Horseshoe kidney OMIM:617352
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Burn-Mckeown Syndrome
Renal hypoplasia OMIM:608572
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney, Micropenis OMIM:616541
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Prot... OMIM:608709
Fanconi Anemia, Complementation Group I
Abnormal renal morphology, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux, Decreased r... OMIM:609053
Adams-Oliver Syndrome 6
Renal hypoplasia OMIM:616589
Mental Retardation, X-Linked, Syndromic 17
Dysphagia, Achalasia OMIM:300858
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Distal upper limb amyotrophy, Degeneration of anterio... ORPHA:65684
Bardet-Biedl Syndrome 21
Horseshoe kidney OMIM:617406
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Caudal Duplication
Cryptorchidism, Abnormal penis morphology, Uterus didelphys, Renal hypoplasia/aplasia, Ureteral d... ORPHA:1756
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Papillary renal cell carcinoma, Renal cortical adenom... OMIM:145001
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Renal tubular atrophy, Renal corticomedullary cysts, Tubular ... OMIM:613159
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevated circulating... ORPHA:95716
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Hypoplasia of penis ORPHA:3055
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Hydronephrosis, Aminoaciduria OMIM:617913
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Crossed fused renal ectopia, Rectovaginal fistula OMIM:617466
Oeis Complex
Cryptorchidism, Bifid uterus, Renal agenesis, Ambiguous genitalia, male, Hydroureter, Ambiguous g... OMIM:258040
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism OMIM:613239
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Unilateral renal agenesis, Abnormality of medullary p... ORPHA:2260
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Paraganglioma... ORPHA:276621
Intellectual Developmental Disorder, X-Linked 103
Cryptorchidism, Micropenis OMIM:300982
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hydrocele testis, Hematuria, Acute kidney injury, Renovascu... ORPHA:49041
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Menometrorrhagia, Diabetes mellitus, Meningioma, Macronodular adrenal hyperplasia ORPHA:189427
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Bangstad Syndrome
Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus OMIM:210740
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Hydronephrosis, Pelvic kidney OMIM:613001
Pten Hamartoma Tumor Syndrome
Hemangioma, Multinodular goiter, Ganglioneuroma, Colon cancer, Endometrial carcinoma, Neoplasm, R... ORPHA:306498
Microgastria-Limb Reduction Defects Association