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Gene: Fads6 MGI:3039592

Gene Summary

Name:

fatty acid desaturase domain family, member 6

Synonyms:

OTTMUSG00000021749, BC050213

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal vitreous body morphology	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.41×10^-05
increased circulating calcium level	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.24×10^-07
increased circulating potassium level	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.92×10^-10
abnormal cecum morphology	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased blood urea nitrogen level	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.79×10^-09
abnormal skin morphology	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
persistence of hyaloid vascular system	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	3.22×10^-14
abnormal retina morphology	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.17×10^-10
abnormal retina blood vessel morphology	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.05×10^-06
abnormal retina vasculature morphology	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.11×10^-05
abnormal duodenum morphology	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating creatinine level	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.01×10^-07
enlarged uterus	Fads6^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Fads6 mutations

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

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

Human diseases associated with Fads6 (0 diseases)
Human diseases predicted to be associated with Fads6 (668 diseases)

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

The table below shows human diseases predicted to be associated to Fads6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology, Hypercalcemia	ORPHA:2123
Combined Oxidative Phosphorylation Deficiency 34	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Increased blood ur...	OMIM:617872
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Cleft p...	OMIM:154230
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hypocalcemia, Malabsorption	ORPHA:100025
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Osteopetrosis, Autosomal Recessive 9	Papilledema, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Infantile Myofibromatosis	Intestinal obstruction, Tracheoesophageal fistula, Hypercalcemia, Abnormal intestine morphology	ORPHA:2591
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Intestinal malrotation, Bicornuate uterus, Abnormality of ...	ORPHA:2143
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Cryptorchidism, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Coach Syndrome 2	Coloboma, Elevated circulating creatinine concentration, Chorioretinal coloboma	OMIM:619111
Rhabdoid Tumor	Neoplasm of the liver, Hypercalcemia	ORPHA:69077
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Non-Functioning Paraganglioma	Hypertensive retinopathy, Hypercalcemia	ORPHA:94080
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration, Ileitis	OMIM:618287
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Malabsorption	ORPHA:172
Abetalipoproteinemia	Retinopathy, Fat malabsorption, Abetalipoproteinemia, Retinal degeneration	OMIM:200100
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Abnormal retinal morphology on macular OCT, Hypercalcemia, Increased blood ure...	ORPHA:251004
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypertensive retinopathy, Hypercalcemia	OMIM:171420
Oculoskeletodental Syndrome	Hypercalcemia, Cryptorchidism, Macroglossia, Protein-losing enteropathy, Hypocalcemia	OMIM:618440
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia	OMIM:615863
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Alg6-Cdg	Decreased LDL cholesterol concentration, Macroglossia, Protein-losing enteropathy, Hypoalbuminemi...	ORPHA:79320
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Preeclampsia	Helicobacter pylori infection, Elevated circulating creatinine concentration, Polycystic ovaries	ORPHA:275555
C3 Glomerulopathy	Drusen, Yellow/white lesions of the retina, Central serous chorioretinopathy, Elevated circulatin...	ORPHA:329918
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Hypermagnesemia, Hypercalcemia	OMIM:145981
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent...	OMIM:175500
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Hypophosphatasia	Hypercalcemia	ORPHA:436
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Abnormal retinal morphology	OMIM:219750
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Refractory Celiac Disease	Villous atrophy, Malabsorption, Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Protein-losing ent...	ORPHA:398063
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Hyperuricemia	ORPHA:199299
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
2P21 Microdeletion Syndrome	Hypogonadism, Hypocalcemia, Cystinuria	ORPHA:163693
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Microphthalmia, Syndromic 12	Cryptorchidism, Bicornuate uterus, Intestinal malrotation, Cleft palate	OMIM:615524
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Orthostatic Hypotension 1	Hypomagnesemia, High palate, Increased blood urea nitrogen	OMIM:223360
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Small bowel diverticula, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Hypercalcemia	ORPHA:276621
Pheochromocytoma	Hypertensive retinopathy, Hypercalcemia	OMIM:171300
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Retinal capillary hemangioma, Hypertensive retinopathy, Hypercalcemia	ORPHA:29072
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con...	ORPHA:220460
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Hypoalbuminemia, Protein-losing en...	OMIM:608104
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126840
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Elev...	ORPHA:247691
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hyperparathyroidism, Neonatal Severe	Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia	OMIM:239200
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, H...	OMIM:615710
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Intermediate Osteopetrosis	Hypocalcemia, Optic atrophy from cranial nerve compression	ORPHA:210110
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Abnormal external genitalia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Paget Disease Of Bone 2, Early-Onset	Hydroxyprolinuria, Hypercalcemia	OMIM:602080
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat...	OMIM:120330
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Duodenal Ulcer, Hyperpepsinogenemic I	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126850
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Cryptorchidism, Precocious puberty, Hyperkalemia	OMIM:614736
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase, Malabsorption	OMIM:600705
Mirage Syndrome	Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, ...	OMIM:617053
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Functional abnorm...	ORPHA:29073
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Addison Disease	Hyponatremia, Primary testicular failure, Hypercalcemia, Celiac disease, Hyperkalemia, Increased ...	ORPHA:85138
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Coloboma, Hypoalbuminemia, Hypo...	OMIM:618183
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
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Cleft palate, Hypocalcemia, Aplasia of the uterus, Rod-cone dys...	ORPHA:2237
Birk-Landau-Perez Syndrome	Optic atrophy, Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Clitoral hypertrophy, Hypospadias, Female external genitalia in individual with 46,...	ORPHA:90791
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Albers-Schönberg Osteopetrosis	Optic atrophy, Hypocalcemia	ORPHA:53
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio...	OMIM:246700
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Cockayne Syndrome Type 1	Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Increased blood urea nitrogen, Male hypogo...	ORPHA:90321
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Peptic ulcer, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures	ORPHA:405
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Hypocalcemia	ORPHA:1438
Vascular Hyalinosis	Hematochezia, Chorioretinal scar, Protein-losing enteropathy, Malabsorption	OMIM:277175
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia	OMIM:612526
Monosomy 13Q34	Hematochezia, Hypercalcemia	ORPHA:96168
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He...	ORPHA:103910
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Zollinger-Ellison syndrome, Hypercalcemia, Esophagitis	OMIM:131100
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Hypercalcemia, Peptic ulcer,...	ORPHA:913
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Intestinal perforation, Rectal prolapse, Elevated circulating creatinine concentrat...	ORPHA:90038
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop...	ORPHA:2198
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration, Attenuation of retinal blood vessels	OMIM:614376
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Dysphagia	ORPHA:99880
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia	ORPHA:95409
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp...	OMIM:174900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Optic atrophy, Hypokalemia, Aminoaciduria, High palate, Hypocalcemia, G...	OMIM:617913
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Parathyroid Carcinoma	Peptic ulcer, Hypercalcemia, Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Dysphagia	ORPHA:143
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate, Gastroesophageal re...	ORPHA:369837
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	High palate, Hypercalcemia	ORPHA:476126
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Bifid scrotum, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudohermaph...	OMIM:201810
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ...	ORPHA:90362
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea, Hypocholesterolemia	OMIM:614338
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E...	OMIM:243150
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Cryptorchidism, Protein-losing enteropathy, High palate, Abno...	ORPHA:1655
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Vipoma	Hypercalcemia, Malabsorption, Hematochezia, Neoplasm of the liver, Hypokalemia, Abnormal gastroin...	ORPHA:97282
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Intestinal malrotation, Bicornuate uterus, Iris coloboma	OMIM:222448
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Elevated circulating creatinine concentration, Increased blood urea nitr...	OMIM:223900
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Small scrotum, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis	OMIM:607143
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi...	OMIM:601346
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	OMIM:218030
Cystinosis	Malabsorption, Hypokalemia, Aminoaciduria, Hypophosphatemia, Retinopathy	ORPHA:213
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Caudal Duplication	Abnormal penis morphology, Cryptorchidism, Intestinal duplication, Uterus didelphys	ORPHA:1756
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Hypercholanemia, Familial 1	Fat malabsorption, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2070
Fibrous Dysplasia Of Bone	Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Hypophosphatemia	ORPHA:249
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ...	ORPHA:168558
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Hypocalcemia, Cystinuria	OMIM:606407
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male ...	ORPHA:289548
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Multiple Endocrine Neoplasia Type 4	Peptic ulcer, Testicular neoplasm, Hypercalcemia, Zollinger-Ellison syndrome, Esophagitis, Cervix...	ORPHA:276152
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Aganglionic megacolon, Hypercalcemia, Abnormal tongue morphology, Neoplasm of ...	ORPHA:653
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, Retinal vascular t...	OMIM:243605
Ppoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Intestinal carcinoid, Neoplas...	ORPHA:97278
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Gracile Bone Dysplasia	Aniridia, Micropenis, Ankyloglossia, Hypocalcemia	OMIM:602361
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Micropenis, Bifid uvula, Hypocalcemic seizures	OMIM:241410
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fist...	OMIM:300514
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Male pseudohermaphroditism, Hyperkalemia, Macroorchidism, Ab...	ORPHA:90790
Somatostatinoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Steatorrhea, Neoplasm of the ...	ORPHA:97283
X-Linked Agammaglobulinemia	Glossoptosis, Hypocalcemia, Malabsorption	ORPHA:47
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Hypocalcemia	OMIM:612462
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp...	ORPHA:94093
Grfoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Zollinger-Ellison syndrome, I...	ORPHA:97261
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Glucagonoma	Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Abnormal gastrointestinal mot...	ORPHA:97280
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Pigmentary re...	OMIM:309801
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Cleft palate, Protein-losing enteropathy, High palate, Hypocalcemia, Micropenis, ...	OMIM:235255
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Sanjad-Sakati Syndrome	Hypoplasia of penis, Intestinal obstruction, Cryptorchidism, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Alg1-Cdg	Abnormality of the gastrointestinal tract, Hypoalbuminemia, Protein-losing enteropathy	ORPHA:79327
Osteopetrosis, Autosomal Recessive 1	Optic atrophy, Hypocalcemia	OMIM:259700
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Senior-Loken Syndrome 1	Retinal dystrophy, Elevated circulating creatinine concentration	OMIM:266900
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cleft palate, Retinal neovascularization	OMIM:619074
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Cleft palate	OMIM:257910
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Cleft palate	OMIM:601076
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Familial Glucocorticoid Deficiency	Hyponatremia, Precocious puberty, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Az...	ORPHA:361
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Gastric ulcer, Esophageal ulceration, Decreased se...	OMIM:618372
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Ectopic...	ORPHA:2059
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Fat malabsorption, Retinopathy	ORPHA:71
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Hypocalcemia	ORPHA:746
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid...	ORPHA:411634
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia	ORPHA:428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Double Outlet Right Ventricle	Intestinal malrotation, Submucous cleft hard palate, Hypocalcemia, Cleft palate	ORPHA:3426
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Abnormal fallopian tube morphology, A...	ORPHA:722
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Hypocalcemia	OMIM:618476
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Duodenal Atresia	Duodenal atresia	OMIM:223400
Renal Hypoplasia, Bilateral	Hyponatremia, Cryptorchidism, Hyperkalemia	ORPHA:97362
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ...	OMIM:617100
Prune Belly Syndrome	Intestinal malrotation, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus, Volv...	ORPHA:2970
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Chorioretinal coloboma, Dysphagia	ORPHA:163961
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Malabsorption, Ileus, Abnormal blood ion concentration, Colitis, Hypoalbuminemia, Hypo...	ORPHA:37042
Cholera	Hyponatremia, Achlorhydria, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia	ORPHA:173
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Microform Holoprosencephaly	Hypoplasia of penis, Cleft palate, Ambiguous genitalia, Cyclopia, Iris coloboma, Duodenal atresia	ORPHA:280200
Esophageal Atresia	Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Pyloric stenosis, Gastroi...	ORPHA:1199
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Optic atrophy, Decrease...	ORPHA:96180
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abno...	ORPHA:59315
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Velocardiofacial Syndrome	Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, Hypocalc...	OMIM:192430
Liddle Syndrome	Hypokalemia	ORPHA:526
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Omodysplasia 2	Hypospadias, Cryptorchidism, Uterus didelphys, Cleft palate, Clitoral hypoplasia, Gastroesophagea...	OMIM:164745
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen...	ORPHA:439232
Oligomeganephronia	Optic disc coloboma, Elevated circulating creatinine concentration	ORPHA:2260
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Hypoalbuminemia, Protein-losing enteropathy, Steatorrhea	OMIM:602579
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Mpi-Cdg	Gastrointestinal hemorrhage, Hypoalbuminemia, Protein-losing enteropathy	ORPHA:79319
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypocalcemi...	ORPHA:247353
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Hypercalcemia, Peptic ulcer, Hematemesis, Melena, Zollinger-Ellison syndrome, Gas...	ORPHA:652
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A...	OMIM:194072
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,...	ORPHA:83628
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Williams Syndrome	Colonic diverticula, Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated ...	ORPHA:904
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia, Optic nerve hypoplasia	OMIM:617914
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Timothy Syndrome	Hypocalcemia	OMIM:601005
Perrault Syndrome 4	Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Hypoplasia of the ovary	OMIM:615300
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Ethylene Glycol Poisoning	Gastritis, Hyperkalemia, Hypocalcemia	ORPHA:31826
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Intestinal perforation, Hyperkalemia, Gastrointestinal infarctions, Hypocalcemia, I...	ORPHA:544482
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Celiac Disease, Susceptibility To, 1	Celiac disease, Hypocalcemia, Steatorrhea	OMIM:212750
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus	OMIM:146255
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Cleft palate, High, narrow palate	ORPHA:2714
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre...	ORPHA:90794
Oeis Complex	Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve...	OMIM:258040
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Duplication Of Urethra	Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi...	ORPHA:237
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Fanconi-Bickel Syndrome	Hypouricemia, Malabsorption, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Hypergalac...	OMIM:227810
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Hypospadias, Cryptorchidism, Gastroesophageal reflux, Micr...	ORPHA:464311
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Optic atrophy, Hypocalcemia, Hyperbilirubinemia	OMIM:259720
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Ehlers-Danlos Syndrome, Classic-Like	Ambiguous genitalia, female, Bicornuate uterus, Hiatus hernia	OMIM:606408
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Esophageal varix, Steatorrhea, Hypercholesterol...	ORPHA:275761
Williams-Beuren Syndrome	Colonic diverticula, Hypercalcemia, Retinal arteriolar tortuosity, Celiac disease, Rectal prolaps...	OMIM:194050
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Pearson Syndrome	Hypomagnesemia, Dysphagia, Steatorrhea, Pigmentary retinopathy, Hypokalemia, Hypocalcemia, Hypoph...	ORPHA:699
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal...	OMIM:300048
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Retinal dystrophy, Bicornuate uterus, Labial hypoplasia, Macular dystrophy,...	ORPHA:140952
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Duodenal atresia	OMIM:617798
Renal Cysts And Diabetes Syndrome	Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ...	OMIM:137920
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon, Hypocalcemia, Malabsorption	ORPHA:175
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Ovarian Fibrothecoma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology	ORPHA:314478
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	ORPHA:320
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate	ORPHA:247768
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Elevated stool chloride content, Hypochloremia, Hypokalemia, Increased circulating ...	OMIM:214700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Hypospadias, Pyloric stenosis, Papillary cystadenoma of the epididymis, Bico...	ORPHA:93111
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Acholic stools, Steatorrhea, Fat malabsorption, Hypocholesterolemia	OMIM:607765
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular ...	ORPHA:93325
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Submucous cleft hard palate, Cleft palate, Gastroe...	OMIM:301043
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Fat malabsorption, Hepatocellular carcinoma	OMIM:601847
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,...	ORPHA:79076
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Gardner Syndrome	Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino...	ORPHA:79665
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature pubarche, Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambigu...	ORPHA:90795
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase concentration,...	ORPHA:2785
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Duodenal ulcer	OMIM:217090
Fanconi Anemia, Complementation Group W	Duodenal atresia	OMIM:617784
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Optic atrop...	OMIM:619321
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi...	OMIM:201750
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Attenuation of retinal blood vessels, Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Cry...	ORPHA:468631
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Elevated circulat...	ORPHA:91500
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Anal atresia, Bifid uterus	OMIM:617466
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Chorioretina...	OMIM:115470
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hypokalemia, Incre...	OMIM:619377
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Optic atrophy, Furrowed tongue, Coloboma, High palate, Gastroesophag...	OMIM:616975
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Aminoaciduria, Hypophospha...	ORPHA:411629
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
Cystinosis, Nephropathic	Hyponatremia, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Generalized aminoac...	OMIM:219800
Myoectodermal Gonadal Dysgenesis Syndrome	Pyloric stenosis, Hypoplasia of the uterus, Hypoplastic labia majora, Gonadal dysgenesis, Clitora...	OMIM:618419
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Paroxysmal Nocturnal Hemoglobinuria	Esophageal spasms, Decreased serum iron, Odynophagia, Dysphagia, Unconjugated hyperbilirubinemia,...	ORPHA:447
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79444
Bartter Syndrome, Type 3	Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ...	OMIM:607364
Fryns Syndrome	Bifid scrotum, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Esophageal atresia, Cr...	OMIM:229850
Pseudotrisomy 13 Syndrome	Cryptorchidism, Micropenis, Bicornuate uterus, Cyclopia, Anal atresia, Median cleft lip and palate	OMIM:264480
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Uterus didelphys, Bicornuate uterus,...	ORPHA:958
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Hyperkalemia, Elevated circulating creatinine concentration, Melena, Hyperphosphatemia	ORPHA:340
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus	OMIM:263210
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Fat malabsorption, Hematochezia, Hyperbilirubinemia	OMIM:214950
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hypospadias, Pyloric stenosis, Cryptorchidism, Gastroesophageal reflux, Microp...	ORPHA:464306
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Congenital hypertrophy o...	ORPHA:247806
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Spondyloocular Syndrome	Unilateral cryptorchidism, Retinal detachment, Duodenal ulcer	OMIM:605822
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ambiguous genitalia, Micropenis, Duoden...	OMIM:257300
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia...	ORPHA:3440
Focal Dermal Hypoplasia	Gastroesophageal reflux, Iris coloboma, Chorioretinal coloboma, Duodenal atresia	ORPHA:2092
Rabson-Mendenhall Syndrome	Enlarged ovaries, Precocious puberty, Long penis, Furrowed tongue, Macroglossia, Hypokalemia, Hig...	ORPHA:769
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Retinal ...	ORPHA:567
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Charge Syndrome	Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, Esophageal atresia, Cr...	OMIM:214800
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Ectopic Aldosterone-Producing Tumor	Ovarian neoplasm, Hypokalemia, Decreased circulating renin level	ORPHA:231632
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Currarino Syndrome	Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruction, Bicornuate uterus,...	OMIM:176450
Sarcoidosis	Abnormality of the gastrointestinal tract, Hypercalcemia, Abnormal reproductive system morphology...	ORPHA:797
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Fanconi Renotubular Syndrome 1	Hypokalemia, Aminoaciduria, Hypophosphatemia	OMIM:134600
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Fat malabsorption	OMIM:211600
Feingold Syndrome	Esophageal atresia, Duodenal atresia	ORPHA:1305
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus	ORPHA:2736
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirubinemia, Steato...	ORPHA:79303
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy	OMIM:618154
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia, Bifid uvula	OMIM:616258
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Vaginal neoplasm, Cleft palate, Colon cancer, Ambiguous genitalia, Stomach ...	ORPHA:1052
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism	OMIM:103580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption, Hyperbilirubinemia	ORPHA:79302
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adenomatous colonic polyposis, Congenital hypertrophy of retinal pigment epit...	OMIM:175100
Atelis Syndrome 2	Vitreous hemorrhage, High palate, Remnants of the hyaloid vascular system, Gastroesophageal reflux	OMIM:620185
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malrotation of colon, P...	ORPHA:93932
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Rod-cone dystrophy,...	ORPHA:14
Igg4-Related Thyroid Disease	Sialadenitis, Hypocalcemia, Dysphagia	ORPHA:64744
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia	OMIM:611590
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona...	OMIM:618820
Isotretinoin-Like Syndrome	Gastroesophageal reflux, Hypocalcemia, Cleft palate	ORPHA:2306
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Intestinal malrotation, Esophageal varix, High palate, Hypoalbuminemia, Hypocalcem...	OMIM:613658
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia	OMIM:191830
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy...	ORPHA:99826
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79443
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Shawl scrotum, Cryptorchidism, Tracheoesophageal fi...	ORPHA:2745
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Optic disc hypoplasia, Adenomatous colonic polyposis, Congenital hypertrophy ...	ORPHA:261584
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Celiac disease, Hyperlipidemia, Gastrointestinal dysmotility, Hyperkalemia	ORPHA:293987
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Denys-Drash Syndrome	True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro...	OMIM:194080
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Cleft palate, Hypocalcemia, Hyperbilirubinemia, Micropenis	ORPHA:163979
Craniofacioskeletal Syndrome	Cryptorchidism, Hypospadias, Hypocalcemia, Cleft palate	OMIM:300712
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Hypoalbuminemia, Gastroesophageal ref...	OMIM:270400
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Fanconi Anemia, Complementation Group F	Cryptorchidism, Microphallus, Duodenal atresia	OMIM:603467
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypospadias, Sex reversal	ORPHA:139466
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, T...	OMIM:107480
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate,...	OMIM:265380
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Acromelic Frontonasal Dysostosis	Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft palate	OMIM:603671
Sotos Syndrome	Aganglionic megacolon, Hypercalcemia, Hypospadias, Phimosis, Cryptorchidism, Hydrocele testis, Ga...	ORPHA:821
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Hypocalcemia, Hypophosphatemia	ORPHA:667
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Jacobsen Syndrome	Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus, Ectopic anus, ...	ORPHA:2308
Pancreatic Colipase Deficiency	Fat malabsorption, Steatorrhea	ORPHA:309108
Fanconi Anemia	Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Aplasia/Hypoplasia of the uvul...	ORPHA:84
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Anal atresia, Clitora...	OMIM:300707
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Bicornuate uterus, Shawl scrotum	OMIM:145420
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Hennekam Syndrome	Pyloric stenosis, Hypocalcemia, Malabsorption	ORPHA:2136
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Congenital...	ORPHA:733
Cranioectodermal Dysplasia 1	High, narrow palate, High palate, Retinal dystrophy, Hypocalcemia	OMIM:218330
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Abnormal optic n...	ORPHA:637
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis	OMIM:614328
Mosaic Variegated Aneuploidy Syndrome 2	Duodenal atresia	OMIM:614114
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Elevated circulating C-reactive protein concentration...	OMIM:619381
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv...	ORPHA:2929
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Rectal prolapse, Narrow palate, Hypoalbuminemia, Protein-losing enteropathy, Inte...	OMIM:235510
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Cleft palate, Duodenal atresia	OMIM:247200
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis	OMIM:611376
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ...	OMIM:119500
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, High palate	OMIM:615866
Liver Disease, Severe Congenital	Hyponatremia, Chronic gastritis, Hypospadias, Elevated circulating alpha-fetoprotein concentratio...	OMIM:619991
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Elevated circulating creatinine concentration	ORPHA:93126
Matthew-Wood Syndrome	Cryptorchidism, Abnormality of the uterus, Duodenal stenosis	ORPHA:2470
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphys, Cleft palate, Mic...	OMIM:617925
Distal Deletion 12Q	Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Micropenis,...	ORPHA:96149
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis	OMIM:140000
Feingold Syndrome 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa...	OMIM:164280
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis...	ORPHA:109
Bartsocas-Papas Syndrome 1	Anal stenosis, Absent external genitalia, Bilateral cryptorchidism, Cleft palate, Hypoplastic lab...	OMIM:263650
Nelson Syndrome	Hypokalemia, Optic nerve compression, Testicular neoplasm	ORPHA:199244
Helix Syndrome	Xerostomia, Hypokalemia, Hypermagnesemia	OMIM:617671
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Mosaic Trisomy 9	Hypoplasia of penis, Intestinal malrotation, Cryptorchidism, Cleft palate, High palate, Abnormali...	ORPHA:99776
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Estrogen Resistance	Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Rectal prolapse, Long penis, Labial hypertrop...	ORPHA:508
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Endometriosis, Velopharyngeal insufficiency, Micropenis, Anal atresia	ORPHA:363444
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Alg9-Cdg	Villous atrophy, Bicornuate uterus, Gastroesophageal reflux, Hypoplasia of the ovary, Bifid uvula	ORPHA:79328
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Hyperlipidemia, Hypoplasia of the uterus, Abnorma...	ORPHA:3464
Johanson-Blizzard Syndrome	Colonic diverticula, Clitoral hypertrophy, Hypospadias, Increased VLDL cholesterol concentration,...	OMIM:243800
Acrorenal-Mandibular Syndrome	Uterus didelphys, Narrow palate, Bicornuate uterus, High palate, Unicornuate uterus	OMIM:200980
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Recurrent infection of the gastrointestinal tract, Malabsorption	ORPHA:83471
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Beaulieu-Boycott-Innes Syndrome	Velopharyngeal insufficiency, Endometriosis	OMIM:613680
Tarp Syndrome	Cryptorchidism, Optic atrophy, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue n...	ORPHA:2886
Mercury Poisoning	Hypokalemia	ORPHA:330021
Pagod Syndrome	Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal morphology of ...	ORPHA:991
Immunodeficiency 87 And Autoimmunity	Villous atrophy, Hypertriglyceridemia, Atrophic gastritis, Necrotizing enterocolitis, Elevated ci...	OMIM:619573
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Optic nerve hypoplasia, High palate, Hypocalcemia, Bifid uvula	OMIM:620330
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias...	ORPHA:322
Proximal Renal Tubular Acidosis	Malabsorption, Bicarbonaturia, Coloboma, Hypokalemia, Aminoaciduria	ORPHA:47159
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, High palate, Bifid uterus	ORPHA:1521
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Fraser Syndrome	Anal stenosis, Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal vagina m...	ORPHA:2052
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Ulnar-Mammary Syndrome	Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Ectopic anus, Abnormality of the uterus, A...	ORPHA:3138
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor...	OMIM:300166
46,Xx Gonadal Dysgenesis	Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus	ORPHA:243
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Malabsorption, Cryptorchidism, Narrow palat...	ORPHA:534
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Hypokalemia, Decreased...	ORPHA:3337
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus	OMIM:601186
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Fraser Syndrome 1	Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Bicornuate uterus...	OMIM:219000
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Zygomycosis	Gastrointestinal hemorrhage, Retinal detachment, Gastritis, Hematemesis, Enterocolitis, Retinal a...	ORPHA:73263
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, High palate	OMIM:110100
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, High palate, Microp...	ORPHA:284339
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Macroglossia, Bic...	OMIM:269150
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Cyclopia, Submucous cleft hard palate, Bilateral cleft l...	OMIM:157170
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, High palate, Cleft palate	OMIM:170390
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Malabsorption	ORPHA:289176
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Cleft pala...	ORPHA:2729
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Unicornu...	OMIM:614527
Yellow Fever	Hematemesis, Elevated circulating creatinine concentration, Elevated circulating creatine kinase ...	ORPHA:99829
Meckel Syndrome, Type 1	Intestinal malrotation, External genital hypoplasia, Cryptorchidism, Ambiguous genitalia, female,...	OMIM:249000
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Retinal detachment, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High pal...	OMIM:601776
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Diets-Jongmans Syndrome	Cryptorchidism, Hypospadias, Duodenal atresia	OMIM:618846
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Oligozoospermia, Hypokalemia, Ambiguous genitalia, Female pseudohermaphroditism	ORPHA:786
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cleft soft palate, Hypomagnesemia, Cryptorchidism, Esophageal varix, High palate, Hypocalcemia, D...	OMIM:619503
Peters Plus Syndrome	Intestinal fistula, Hypospadias, Cryptorchidism, Optic atrophy, Cleft palate, Hypoplasia of the u...	ORPHA:709
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Bicornuate uterus, Aganglionic megacolon, Cleft palate	OMIM:154400
Whim Syndrome	Cervix cancer, Abnormal small intestine morphology, Parotitis	ORPHA:51636
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Ulnar-Mammary Syndrome	Anal stenosis, Small scrotum, Pyloric stenosis, Bicornuate uterus, Shawl scrotum, Micropenis, Imp...	OMIM:181450
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Hypospadias, Cryptorchidism, Cleft palate, Gastric ulcer,...	OMIM:135900
Meacham Syndrome	Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina	OMIM:608978
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Digeorge Syndrome	High, narrow palate, Cleft palate, Hydrocele testis, Ovarian cyst, High palate, Hypocalcemia, Gas...	OMIM:188400
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Hypo...	OMIM:261540
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Anal atresia, Duodenal atresia	OMIM:306955
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Gastroesophageal reflux	OMIM:618426
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Cholangiocarcinoma, Gastrointestinal hemorrhage, Esophageal varix, Protein-losing e...	ORPHA:731
Vascular Ehlers-Danlos Syndrome	Hypospadias, High, narrow palate, Cryptorchidism, Cystocele, Hypokalemia, Gastrointestinal infarc...	ORPHA:286
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Micropenis, A...	OMIM:614083
Microsporidiosis	Prostatitis, Glossitis, Abnormal endometrium morphology, Abnormal fallopian tube morphology	ORPHA:2552
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Acholic stools, Fat malabsorption	ORPHA:30391
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H...	ORPHA:201
Immunodeficiency 31C	Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception	OMIM:614162
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon	OMIM:155310
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Short uvula, Submucous cleft ha...	OMIM:619539
Phocomelia, Schinzel Type	Hypoplasia of penis, High, narrow palate, Cryptorchidism, Tracheoesophageal fistula, Cleft palate...	ORPHA:2879
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb...	ORPHA:512
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus didelphys...	ORPHA:93271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Decreased serum iron, Precocious puberty, Cryptorchidism, Gastroesophageal ref...	ORPHA:438213
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Anteriorl...	ORPHA:857
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Aplasia of the vagina, Anal atresia, Absent external genitalia	OMIM:271520
Renal Agenesis	Absent vas deferens, Anal atresia, Aplasia/hypoplasia of the uterus	ORPHA:411709
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Neu-Laxova Syndrome 1	Cryptorchidism, Cleft palate, Bifid uterus	OMIM:256520
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Cleft palate	ORPHA:3320
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Duodenal atresia	OMIM:270100
Loeys-Dietz Syndrome	High palate, Bifid uvula, Uterine rupture	ORPHA:60030
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hypospadias, Cleft palate, Bifid uterus	OMIM:236680
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse	OMIM:130050
Distal Renal Tubular Acidosis	Hypokalemia, Aminoaciduria	ORPHA:18
Tsh-Secreting Pituitary Adenoma	Hypogonadotropic hypogonadism, Female hypogonadism, Hypokalemia, Hypogonadism, Male hypogonadism	ORPHA:91347
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Xerostomia, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Bif...	ORPHA:2363
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad...	ORPHA:2232
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cleft palate, Coloboma, Bicornuat...	OMIM:268300
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus	OMIM:619879
Cornelia De Lange Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Cleft...	ORPHA:199
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Meckel diverticulum, Cleft palate	OMIM:274000
Scorpion Envenomation	Hypokalemia, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase...	ORPHA:466677
Limb-Mammary Syndrome	Cleft hard palate, Cleft palate, Aplasia of the uterus, Aplasia of the ovary, Submucous cleft sof...	ORPHA:69085
Classical Ehlers-Danlos Syndrome	Hiatus hernia, Rectal prolapse, Cervical insufficiency, Gastroesophageal reflux, Uterine prolapse	ORPHA:287
Wolf-Hirschhorn Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cleft palate, Gastro...	OMIM:194190
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Cardiac-Urogenital Syndrome	Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Aplasia of the ...	OMIM:618280
Genitopatellar Syndrome	Anal stenosis, Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Malrot...	OMIM:606170
Coffin-Lowry Syndrome	Uterine prolapse, Rectal prolapse, High palate, Narrow palate	OMIM:303600
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Aneurysm-Osteoarthritis Syndrome	Uterine prolapse, High palate, Bifid uvula, Cleft palate	ORPHA:284984
Loeys-Dietz Syndrome 3	Eosinophilic infiltration of the esophagus, Cystocele, Cleft palate, High palate, Uterine prolaps...	OMIM:613795
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Pallister-Killian Syndrome	Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, ...	OMIM:601803

Histopathology

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

There is no histopathology data for Fads6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fads6.

No publications found that use IMPC mice or data for Fads6.

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MGI Allele	Allele Type	Produced
Fads6^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Fads6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Fads6^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Fads6^{tm147(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fads6 MGI:3039592

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Fads6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data