Orofacial Cleft 14 |
|
Median cleft lip |
OMIM:615892 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Telecanthus |
|
Anodontia, Bilateral cleft lip and palate |
OMIM:187350 |
Phlebectasia Of Lips |
|
Abnormal lip morphology |
OMIM:171450 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Cleft lower lip, Fusion of gums |
ORPHA:401942 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Cleft Lip-Retinopathy Syndrome |
|
Non-midline cleft lip |
ORPHA:1995 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:137215 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:236110 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Proteinuria, Unilateral renal agenesis, Ureteral agenes... |
ORPHA:411709 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Cleft upper lip, Cleft palate, Ureth... |
OMIM:273395 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Cleft upper lip |
OMIM:600251 |
Disorganization, Mouse, Homolog Of |
|
Cleft palate, Cleft upper lip |
OMIM:223200 |
X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size, Orofacial cleft, Cleft upper lip |
ORPHA:85287 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis, Oral ulcer |
OMIM:618287 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci... |
OMIM:146255 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Anencephaly 2 |
|
Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cleft upper lip, Renal cyst, Cleft palate, Gonadal dysgenesis, male |
OMIM:231060 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Cleft upper lip, Ectopic kidney, Cleft palate, Hypoplasia of the uteru... |
OMIM:601076 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Non-midline cleft lip |
ORPHA:2007 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens |
OMIM:277180 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... |
ORPHA:3109 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Cleft palate, H... |
ORPHA:2237 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Pyloric sten... |
ORPHA:93111 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bicornuate uterus, Bifid uvula, Cleft palate |
OMIM:258320 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip |
OMIM:120433 |
Thomas Syndrome |
|
Cleft palate, Cleft upper lip |
ORPHA:3316 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Hydrolethalus |
|
Cryptorchidism, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival cleft, Unilatera... |
ORPHA:2189 |
Intellectual Disability, Wolff Type |
|
Hypospadias, Cryptorchidism, Non-midline cleft lip, Thick lower lip vermilion, Orofacial cleft, A... |
ORPHA:3080 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Mmep Syndrome |
|
Median cleft lip, Orofacial cleft |
ORPHA:3434 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Decreased testicular size, Cleft palate |
ORPHA:85273 |
Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal... |
OMIM:614527 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Cleft upper lip, Cleft palate, Polycystic kidney dysplasi... |
OMIM:613885 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Cleft palate, Horseshoe kidney |
ORPHA:3320 |
Autosomal Recessive Amelia |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Non-midline cleft lip, Orofacial cleft |
ORPHA:1027 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Increased ur... |
ORPHA:90793 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, High, narrow palate, Cryptorchidism, Meningocele, Tracheoesophageal fistula,... |
ORPHA:2879 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Phenobarbital Embryopathy |
|
Unilateral cleft lip, Hypospadias |
ORPHA:1919 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Cleft ... |
OMIM:244200 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip |
OMIM:168500 |
Charlie M Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Thin vermilion border, Short philtrum, Narrow mouth |
ORPHA:1406 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... |
ORPHA:168558 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Microphthalmia, Syndromic 8 |
|
Widely-spaced maxillary central incisors, Cleft palate, Orofacial cleft, Cleft upper lip |
OMIM:601349 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,... |
ORPHA:289548 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... |
OMIM:614083 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst |
OMIM:614870 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Small scrotum, Renal cyst, Anteriorly placed anus, Bifid uvula, Hypos... |
OMIM:601803 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Distal Deletion 10P |
|
Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Polycystic ovaries, Ect... |
ORPHA:1580 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Orofacial cleft, Aplasia of the vagina, Smooth philtrum |
OMIM:193500 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Cryptorchidism, Alveolar ridge overgrowth, Hydronephrosis, High palate,... |
ORPHA:1655 |
Split hand/foot malformation 1 (SHFM1) |
|
Median cleft lip, Cleft palate |
DECIPHER:46 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... |
OMIM:154230 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Occipital encephalocele, Polycystic kidney dysplasia, Aplasia of the uterus |
OMIM:619879 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Open mouth, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Gingival overgrowth, Gingivitis, Nephrolithiasis, Periodontitis, Abno... |
ORPHA:722 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Non-midline cleft lip, Abnormality of the ureter, Cleft palate, Poly... |
ORPHA:1770 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Cleft palate, Micropenis, Microglossia |
OMIM:241800 |
16P11.2P12.2 Microduplication Syndrome |
|
Hypospadias, Cleft palate |
ORPHA:261204 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... |
ORPHA:284339 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Hypospadias, Unilateral renal agenesis, Diastem... |
ORPHA:96121 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Myelomeni... |
ORPHA:93929 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Aplasia of the uterus, Aplasia of the ova... |
ORPHA:69085 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Trisomy 8Q |
|
Hypoplasia of penis, Cryptorchidism, Myelomeningocele, Non-midline cleft lip, Cleft palate, Orofa... |
ORPHA:1752 |
Hemifacial Microsomia With Radial Defects |
|
Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft |
OMIM:141400 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Rudiger Syndrome |
|
Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Anodontia |
OMIM:225060 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Tooth agenesis, Mic... |
OMIM:147950 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Intestinal malrotation, Spina bifida, Cryptorchidism, Cleft palate, Horsesho... |
ORPHA:99776 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni... |
ORPHA:456328 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Cryptorchidism, Cleft palate, Bicornuate uterus, Neonatal death |
OMIM:615524 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Downturned corners of mouth, Short philtrum, Smooth philtrum, Cleft upper lip |
OMIM:613192 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Cryptorchidism, Non-midline cleft lip, Cleft palate, Wide mouth |
ORPHA:1636 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... |
OMIM:137920 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Cleft p... |
ORPHA:915 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip |
OMIM:616994 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Cystic Fibrosis |
|
Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Steatorrhea |
ORPHA:586 |
Omodysplasia 2 |
|
Tented upper lip vermilion, Hypospadias, Bilateral cleft lip, Cryptorchidism, Uterus didelphys, C... |
OMIM:164745 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Ectopic kidney, Short philtrum, High palate, Microdontia, Spina bifida occulta, Hy... |
OMIM:135900 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Micropenis, Median cleft lip, Renal hypoplasia |
OMIM:617926 |
Triploidy |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Non-midline cleft lip, ... |
ORPHA:3376 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Cleft palate, Cleft upper lip |
OMIM:244600 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Death in infancy, Spina bifida, Cleft palate, Horseshoe kidney, Aplasia of ... |
OMIM:274000 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:887 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Cleft upper lip, Conical tooth, Cleft palate, Widely space... |
OMIM:106260 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... |
ORPHA:3097 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula, Vaginal atresia |
OMIM:616258 |
Opitz Gbbb Syndrome |
|
Anal atresia, Thin upper lip vermilion, Hypospadias, Cleft upper lip, Rectourethral fistula, Cryp... |
OMIM:300000 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morphology, Abnormality o... |
ORPHA:247768 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Thin vermilion border... |
OMIM:608572 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:300958 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Cryptorchidism, Abnormality ... |
ORPHA:3378 |
Orofaciodigital Syndrome Viii |
|
Median cleft lip, High palate, Cleft palate |
OMIM:300484 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incisor, Hydronephr... |
OMIM:602418 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Clitoral hypertrophy |
ORPHA:96181 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Non-midline cleft lip, Male pseudoherm... |
ORPHA:2075 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2476 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Abnormality of the dentition, Hypogonadism, Cleft upper lip |
OMIM:273400 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Acrofrontofacionasal Dysostosis |
|
Bifid scrotum, Hypospadias, Non-midline cleft lip, Cleft palate, Everted lower lip vermilion, Hig... |
ORPHA:1784 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Renal cyst, Cleft palate |
OMIM:611561 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage... |
OMIM:613390 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Abnormal internal genitalia, Cleft upper lip, Anencephaly, Cleft palate,... |
OMIM:612284 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Horseshoe kidney, Cleft upper lip |
OMIM:216100 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip |
OMIM:601357 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Cleft palate |
OMIM:302905 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon... |
ORPHA:2059 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum |
ORPHA:1252 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... |
ORPHA:261529 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Cryptorchidism, Myelomeningocele, ... |
ORPHA:1756 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive... |
ORPHA:432 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft palate, Cleft upper lip |
OMIM:214300 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ... |
OMIM:200990 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Cleft upper lip, Precocious puberty, Cryptorchidism, Malrotation of small bowel, Cle... |
OMIM:194190 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Cleft upper lip, Cryptorchidism, Orofacial cleft, Wide mouth, Long phil... |
OMIM:243310 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Hypoplasia of the ovary |
OMIM:615300 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Intestinal malrotation, Cryptorchidism, Enlarged kidney... |
OMIM:618280 |
Culler-Jones Syndrome |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Hypogonadism, Micropenis |
OMIM:615849 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Fetal Akinesia Deformation Sequence 4 |
|
Neonatal death, Cryptorchidism, High palate, Prenatal death |
OMIM:618393 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Perineal hypospadias, Ambiguou... |
ORPHA:753 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Incomplete cleft of the upper lip, Deep philtrum, Orofacial cleft |
ORPHA:77300 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Ab... |
ORPHA:3253 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism... |
OMIM:300219 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Unilateral cryptorchidism, Ham... |
OMIM:174300 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Zechi-Ceide Syndrome |
|
Oligodontia, Cleft palate, Cleft upper lip |
OMIM:612916 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Thin upper lip vermilion, Small scrotum, Lip pit, Cryptorchidism, Non-midline clef... |
ORPHA:1300 |
Short Stature And Facioauriculothoracic Malformations |
|
High palate, Cleft palate, Cleft upper lip |
OMIM:609654 |
3Mc Syndrome 3 |
|
Bifid scrotum, Cleft upper lip, Cryptorchidism, Cleft palate, Horseshoe kidney, Micropenis, Penos... |
OMIM:248340 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cryptorchidism, Deep philt... |
OMIM:612530 |
Rapp-Hodgkin Syndrome |
|
Hypospadias, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, ... |
OMIM:129400 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Intestinal malrotation, Cryptorch... |
ORPHA:2970 |
46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus |
ORPHA:243 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Narrow mouth, Ectopic kidney, Cleft palate, Cleft upper lip |
OMIM:239800 |
Tetraamelia Syndrome 2 |
|
Bilateral cleft lip, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia |
OMIM:618021 |
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 |
Holoprosencephaly 4 |
|
Median cleft lip, Median cleft lip and palate |
OMIM:142946 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cleft palate, Micropenis, Decreased testicular size |
OMIM:614838 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Ureteral agenesis, Vaginal atresia, Renal hypoplasia |
OMIM:617914 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip |
ORPHA:398189 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cleft upper lip, Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Micropenis, ... |
OMIM:264480 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Anal atresia |
OMIM:119580 |
Pai Syndrome |
|
Median cleft lip, Bifid uvula, Cleft palate, Abnormal oral frenulum morphology |
ORPHA:1993 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Death in childhood, Shawl scrotum, Mi... |
OMIM:600460 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Smith-Magenis Syndrome |
|
Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper lip, Precocious pubert... |
ORPHA:819 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Narrow mouth, Cleft palate, Hypoplastic male external genitalia, Ambiguous geni... |
ORPHA:1234 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Cryptorchidism, Thick lower lip vermilion, Submucous cleft hard palate, Horseshoe ki... |
OMIM:619103 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Cleft upper lip, Cryptorchidism, Cleft palate, Hypoplastic labia majora, ... |
OMIM:244300 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine m... |
ORPHA:1848 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Abnormality of the... |
ORPHA:2315 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Renal hypoplasia, Cle... |
OMIM:616300 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... |
OMIM:276820 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Distal urethral duplication, Non-midline cleft lip, Cleft palate, Orofacial cleft, Wide mouth, Ec... |
ORPHA:2549 |
Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Hartsfield Syndrome |
|
Encephalocele, Non-midline cleft lip, Cleft palate |
ORPHA:2117 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Mandibular condyle hy... |
ORPHA:2975 |
Donnai-Barrow Syndrome |
|
Proteinuria, Intestinal malrotation, Bicornuate uterus, Abnormality of the uterus, Umbilical hernia |
ORPHA:2143 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Thin upper lip vermilion, Tented upper lip vermilion, Bilateral cleft lip, Deep philtrum, Thin ve... |
OMIM:618622 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Dental crowding, Unilateral renal agenesis, Cryptorchidism, Submucous ... |
ORPHA:96170 |
Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Dental crowding, Orofacial cleft, Urethral atresia, High pala... |
ORPHA:2052 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ... |
ORPHA:95706 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Hypoplasia of the uterus, Thick vermilion border, Everted lower lip ve... |
OMIM:615866 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cleft palate, Unilateral cle... |
ORPHA:63862 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Bilateral cryptorchidism, Cryptorchidism, Cleft palate, Curved linear dimple bel... |
OMIM:305400 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Recombinant 8 Syndrome |
|
Small scrotum, Cleft upper lip, Abnormality of the dentition, Cryptorchidism, Gingival overgrowth... |
ORPHA:96167 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou... |
ORPHA:83628 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Abnormal dental morphology,... |
ORPHA:861 |
Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Non-midline cleft lip, Cleft palate |
ORPHA:3429 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious teeth, Myelomeningoc... |
OMIM:311200 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, Everted lower lip... |
OMIM:619736 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Clitoral hypertrophy, Anuria, Hypospadias, Urinary incontinenc... |
ORPHA:237 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ... |
OMIM:616788 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Cryptorchidism, Hydromet... |
ORPHA:2473 |
Frontonasal Dysplasia 1 |
|
Median cleft lip, Anterior basal encephalocele, Widely-spaced maxillary central incisors, Cranium... |
OMIM:136760 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Enlarged kidney, Poly... |
OMIM:613091 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Epispadi... |
ORPHA:2588 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenes... |
ORPHA:1297 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Bilateral cleft lip and palate |
ORPHA:2003 |
Chromosome 18Q Deletion Syndrome |
|
Thin upper lip vermilion, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis,... |
OMIM:601808 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
High, narrow palate, Cleft palate, Ethmoidal encephalocele, Cleft upper lip |
OMIM:607597 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Aganglionic megacolon, Intestina... |
OMIM:229850 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Thoracoabdominal Syndrome |
|
Hypospadias, Anencephaly, Cleft palate, Cleft upper lip |
OMIM:313850 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
3Mc Syndrome 2 |
|
Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Horseshoe kidney, Downturned corners ... |
OMIM:265050 |
Vacterl With Hydrocephalus |
|
Spina bifida, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Abnormal fallopian t... |
ORPHA:3412 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Abnormal vagina morphology |
ORPHA:2123 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft palate, High palate |
OMIM:258865 |
Pallister-Hall Syndrome |
|
Natal tooth, Hydroureter, Distal urethral duplication, Cleft upper lip, Precocious puberty, Crypt... |
OMIM:146510 |
Naxos Disease |
|
Cleft upper lip |
ORPHA:34217 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadism, Vaginal atresia |
OMIM:615989 |
Dystonia-Deafness Syndrome 1 |
|
Cleft palate, Cleft upper lip |
OMIM:607371 |
Acrocardiofacial Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate... |
ORPHA:2008 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Interstitial Cystitis |
|
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... |
ORPHA:37202 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... |
OMIM:122470 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Malabsorption |
OMIM:600705 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Smooth philtrum, Unilateral renal agenesis, Pyloric stenosis, Hypoplasia of the uterus, Hypoplast... |
OMIM:618419 |
Postaxial Acrofacial Dysostosis |
|
Cleft upper lip, Conical tooth, Midgut malrotation, Pyloric stenosis, Cryptorchidism, Cleft palat... |
OMIM:263750 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Small scrotum, Bilateral cleft lip, Hypospadias, Cryptorchidism, S... |
OMIM:612651 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Natal tooth, Small scrotum, Hypospadias, Accessory oral frenulum, Ecto... |
ORPHA:672 |
Pentalogy Of Cantrell |
|
Encephalocele, Hypospadias, Non-midline cleft lip, Anencephaly, Cleft palate, Orofacial cleft |
ORPHA:1335 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Decreased testicular size, Cleft palate |
OMIM:614880 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Bresek Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Renal hypoplasia, Cleft palate, Neonatal death, Vesicouret... |
ORPHA:85284 |
Opitz-Kaveggia Syndrome |
|
Anal stenosis, Dental crowding, Intestinal malrotation, Hypospadias, Cleft upper lip, Pyloric ste... |
OMIM:305450 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft upper lip, Cryptorchidism, Cleft palate, Thin vermilion border,... |
OMIM:614294 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Miscarriage, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uteru... |
ORPHA:2438 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Cleft palate, Unilateral cleft lip, Micropenis, Hydronephrosis |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia |
OMIM:614922 |
Waardenburg Syndrome Type 1 |
|
Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upper lip, Meningocele, Cl... |
ORPHA:894 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Anal atresia, Horseshoe kidney |
OMIM:619318 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Cryptorchidism, High palate |
OMIM:611890 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Cleft upper lip, Cryptorchidism, Cleft palate,... |
ORPHA:261236 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Waardenburg Syndrome |
|
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Aganglionic megacolon, Myelomeningocele,... |
ORPHA:3440 |
Microphthalmia With Limb Anomalies |
|
Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Cleft palate, High palate |
OMIM:206920 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop... |
OMIM:617466 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Hypoplasia of... |
OMIM:309801 |
Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Cleft palate, Cleft upper lip |
OMIM:612561 |
Koolen-De Vries Syndrome |
|
Cleft upper lip, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate, High palate, Wide... |
OMIM:610443 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Hydroureter, Septate vagina, Bicornuate uterus, Rectovaginal fistula, P... |
OMIM:300707 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoosperm... |
ORPHA:2232 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Cleft palate, Abnormality of the dentition |
ORPHA:1794 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Anteriorly placed anus, C... |
OMIM:261540 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Non-midline cleft lip, Cleft palate, Microdontia, Smooth philtrum |
ORPHA:1915 |
Nager Syndrome |
|
Unilateral renal agenesis, Non-midline cleft lip, Cleft palate, Wide mouth, Abnormal palate morph... |
ORPHA:245 |
Camptobrachydactyly |
|
Urinary incontinence, Septate vagina |
OMIM:114150 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Cleft palate, Cleft upper lip |
OMIM:268850 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Cryptorchidism, Meningocele, Wide mouth, Median cleft palate |
ORPHA:1827 |
Microsporidiosis |
|
Glossitis, Prostatitis, Urethritis, Abnormal endometrium morphology, Abnormal fallopian tube morp... |
ORPHA:2552 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft palate, Cleft upper lip |
OMIM:600987 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Hypospadias, Death in childhood |
OMIM:619334 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, Bicornuate uterus, ... |
OMIM:601186 |
Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia |
OMIM:300068 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Vaginal stricture... |
ORPHA:79409 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Anencephaly, Renal hy... |
OMIM:269860 |
Trisomy 18 |
|
Spina bifida, Esophageal atresia, Non-midline cleft lip, Cryptorchidism, Anencephaly, Cleft palat... |
ORPHA:3380 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, External ... |
OMIM:249000 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Hypogonadotropic h... |
OMIM:604292 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Median cleft lip, Cleft palate |
ORPHA:2165 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Cleft upper lip, High palate, Narrow mouth, Umbilica... |
OMIM:612582 |
Fixed Drug Eruption |
|
Stomatitis, Oral ulcer, Vaginal mucosal ulceration |
ORPHA:293812 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ... |
OMIM:216360 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormal fallopian tube morphology, Abnormal dental enamel morphology,... |
ORPHA:2556 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Solitary Median Maxillary Central Incisor |
|
Prominent median palatal raphe, Solitary median maxillary central incisor, Torus palatinus, Cleft... |
OMIM:147250 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Cle... |
OMIM:239300 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Meacham Syndrome |
|
Death in infancy, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... |
OMIM:608978 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hydroureter, Absence of Stensen duct, Selective tooth agenesis, Hypogonadotropic hypogonadism, Cl... |
OMIM:129900 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Dental crowding, Hypospadias, Precocious puberty, Cryptor... |
ORPHA:813 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy, Organic aciduria |
OMIM:617184 |
Femoral-Facial Syndrome |
|
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,... |
ORPHA:2470 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst |
OMIM:602579 |
Craniofrontonasal Syndrome |
|
Hypospadias, Abnormality of the dentition, Cleft upper lip, Cryptorchidism, Cleft palate, Shawl s... |
OMIM:304110 |
H Syndrome |
|
Malabsorption, Cleft upper lip, Gingival overgrowth, Azoospermia, Hypogonadism, Micropenis, Decre... |
ORPHA:168569 |
Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Cleft upper lip, Bilateral cryptorchidism, Absent external genitalia, Ectopic kidn... |
OMIM:263650 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Non-midline cleft lip, Meningocele, Anencephaly, Cleft palate, Spinal dysraphism |
ORPHA:1908 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Cleft lip, Uterus dide... |
OMIM:617925 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal small intestine morphology, Dental crowding, Hypospadias, Cleft upper lip... |
OMIM:219000 |
Oeis Complex |
|
Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genita... |
OMIM:258040 |
Postaxial Acrofacial Dysostosis |
|
Non-midline cleft lip, Cleft palate |
ORPHA:246 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Cleft palate, Thick vermilion bor... |
OMIM:242840 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Intestinal malrotation, Cleft upper lip, Narrow palate, Broad alveolar ri... |
OMIM:605039 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Meningocele, Agonadi... |
ORPHA:991 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel... |
OMIM:140000 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Holoprosencephaly 9 |
|
Cleft upper lip, Cryptorchidism, Agenesis of incisor, Dental malocclusion, Cleft palate, Bilatera... |
OMIM:610829 |
Zaki Syndrome |
|
Wide mouth, Median pseudocleft lip, High palate, Short philtrum, Hydronephrosis |
OMIM:619648 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Bifid uterus, Anencephaly, Cleft palate, Stillbirth, Abnormal vagi... |
OMIM:236680 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Proteinuria, Vaginal atresia |
OMIM:191830 |
Chand Syndrome |
|
Hydroureter, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... |
ORPHA:1401 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria |
OMIM:615228 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal dental enamel morphology, Cheilitis, Hematuria, Abnormal lip morphology, Abnormal vagina... |
ORPHA:1334 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Hydatidiform Mole |
|
Miscarriage, Enlarged uterus |
ORPHA:99927 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Median cleft lip, Monorchism, Abnormal oral mucosa morphology, High, n... |
ORPHA:2753 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Renal hypoplasia, Wide mouth, Median pseudocle... |
OMIM:619758 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou... |
OMIM:606408 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Hydrometrocolpos, Aplasia of the ... |
OMIM:617088 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Orofacial cleft, Narrow mouth, Vaginal atresia, Ana... |
ORPHA:3301 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft palate, Cleft upper lip |
OMIM:312150 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Micropenis, Polycyst... |
OMIM:263520 |
Hartsfield Syndrome |
|
Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Micropenis |
OMIM:615465 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
Currarino Syndrome |
|
Anal stenosis, Neurogenic bladder, Urinary incontinence, Septate vagina, Perianal abscess, Horses... |
OMIM:176450 |
Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Spina bifida occulta |
ORPHA:1787 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip |
ORPHA:2511 |
Microphthalmia With Limb Anomalies |
|
Death in infancy, Macrodontia, Cleft upper lip, Cryptorchidism, Cleft palate, Horseshoe kidney, T... |
ORPHA:1106 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Frontofacionasal Dysplasia |
|
Encephalocele, Non-midline cleft lip, Cleft palate |
ORPHA:1791 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Multicystic kidney dysplasia, Dental crowding, Intestinal malrotation... |
OMIM:300373 |
Orofaciodigital Syndrome Vi |
|
Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia, Smooth philtrum |
OMIM:263210 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, High palate |
OMIM:110100 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Cleft upper lip, Cleft palate... |
OMIM:161200 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Spina bifida, Cleft upper lip, Hamartomatous... |
OMIM:109400 |
Roberts Syndrome |
|
Cleft upper lip, Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dysplas... |
ORPHA:3103 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Esophageal atresia, Cryptorchidism,... |
ORPHA:93271 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Everted lower lip vermilion |
OMIM:242500 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate |
ORPHA:2213 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Micropenis, Neonatal death, Narrow mouth |
OMIM:618810 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Median cleft lip, Renal insufficiency, Abnormal dental enamel morph... |
ORPHA:2750 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Swollen lip, Cleft upper lip, Bifid uterus, Cryptorchidism, Thick lower lip vermili... |
OMIM:256520 |
Holoprosencephaly |
|
Encephalocele, Hypoplasia of penis, Median cleft lip, Median cleft lip and palate, Bilateral clef... |
ORPHA:2162 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Proteinuria, Cleft palate, Cleft upper lip |
ORPHA:33001 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Unilateral Ocular Duplication |
|
Encephalocele, Median cleft lip, Cleft palate |
ORPHA:3374 |
Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Unilateral renal agenesis, Cleft upper lip, Velopharyngeal insufficiency, ... |
OMIM:154400 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Unilateral renal agenesis, Cleft upper lip, Gingival overgrowth, Cleft palate, Microdontia of pri... |
OMIM:213980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Cleft upper lip, Meningoencephalocele, Cryptorchidism, Cleft palate, Hyp... |
OMIM:236670 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Cleft upper lip, Cleft palate, Macroglossia |
OMIM:613150 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Tauro... |
OMIM:164200 |
Distal Deletion 12Q |
|
Median cleft lip, Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Supernumerary t... |
ORPHA:96149 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Cleft upper lip, Cryptorchidism, Cleft palate, U-Shaped upper lip vermilion |
OMIM:603671 |
Developmental And Epileptic Encephalopathy 89 |
|
Thin upper lip vermilion, Clitoral hypertrophy, Hypoplastic labia minora, Cleft palate, Hypoplast... |
OMIM:619124 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ... |
ORPHA:59315 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst |
OMIM:601539 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Hydrocele testis, Bicornuate uterus, Long... |
OMIM:145420 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Oligodontia |
OMIM:601701 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Pyloric stenosis, Cryptorchidism, Renal hypoplasia, Ectopic anus, Hypodontia... |
ORPHA:3138 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Constricting Bands, Congenital |
|
Encephalocele, Bladder exstrophy, Cleft palate, Cleft upper lip |
OMIM:217100 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Cerebrofaciothoracic Dysplasia |
|
Wide mouth, Cleft palate, Broad philtrum, Cleft upper lip |
ORPHA:1394 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Peters Plus Syndrome |
|
Intestinal fistula, Thin upper lip vermilion, Ureteral duplication, Exaggerated cupid's bow, Hypo... |
ORPHA:709 |
3Mc Syndrome 1 |
|
Dental crowding, Cleft upper lip, Cleft lip, Cleft palate, Spina bifida occulta, Hydronephrosis |
OMIM:257920 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Median cleft lip, Abnormal dental enamel morphology, Premature loss of primar... |
ORPHA:2710 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:270420 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst |
ORPHA:488618 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Charge Syndrome |
|
Delayed eruption of teeth, Bifid scrotum, Hypogonadotropic hypogonadism, Cleft upper lip, Abnorma... |
ORPHA:138 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Cystic Echinococcosis |
|
Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst |
ORPHA:400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Natal tooth, Enlarged ovaries, Hypospadias, Shawl scrotum, Cleft lip, Cryptorchidi... |
ORPHA:2745 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Cryptorchidism, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, ... |
OMIM:616145 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the philtrum, Hypospadias, Cleft upper lip, Cryptorchidism, Cleft palate, Downturn... |
ORPHA:280 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Cleft upper lip, Stillbirth, Umbilical hernia, Hydronephrosis |
OMIM:308050 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral at... |
OMIM:208540 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Cryptorchidism, Protein-losing enteropathy, Long philtrum, Neonatal death |
OMIM:608104 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Renal insufficiency, Ectopic kidney, Horseshoe kidney, Bicornuate uteru... |
ORPHA:140952 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Ureteral duplication, Intestinal malrotation, Cleft upper lip, Hiatus ... |
OMIM:305600 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Cleft palate, Unilateral cleft lip... |
OMIM:610828 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Renal cyst, Micropenis, Bifid uvula, Penoscrotal h... |
OMIM:270400 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Imperforate hymen, Cleft palate, Cleft upper lip |
OMIM:100300 |
Aicardi Syndrome |
|
Intestinal polyposis, Hiatus hernia, Cleft upper lip, Malabsorption, Precocious puberty, Cleft pa... |
ORPHA:50 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Anal stenosis, Renal insufficiency, Urinary incontinence, Spina bifida, Bifid uter... |
ORPHA:322 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol... |
OMIM:608836 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Aganglionic megacolon, Dental crowding, High, narrow palate, High pala... |
OMIM:209900 |
Larsen Syndrome |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Spina bifida occulta |
OMIM:150250 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Uterus didelphys, B... |
ORPHA:958 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis |
OMIM:257300 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Cleft lip, Cleft palate, Sex reversal |
OMIM:611812 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Anal atresia, Persistent cloaca |
OMIM:615709 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
Acrofrontofacionasal Dysostosis 1 |
|
Wide mouth, Oligodontia, Cleft palate, Cleft upper lip |
OMIM:201180 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cleft upper lip, Deep philtrum, Cleft palate, Hydronephrosis, Anal atresia |
OMIM:251260 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, Cl... |
ORPHA:2250 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Cryptorchidism, Occipital encephalocele, Neonatal death, Narrow mouth |
OMIM:224410 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... |
ORPHA:26791 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula, Neo... |
OMIM:619859 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Cleft upper lip, Cryptorchidism, Frontal encephalocele, Long ... |
OMIM:268300 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Cryptorchidism, Death in childhood, 3-Methylglutaconic aciduria, Long philtrum, Neon... |
OMIM:614052 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Aicardi Syndrome |
|
Spina bifida, Hiatus hernia, Precocious puberty, Cleft upper lip, Cleft palate |
OMIM:304050 |
Lymphatic Malformation 12 |
|
Hydrocele testis, Neonatal death, Death in adolescence |
OMIM:620014 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Vaginal atresia, Fused labia minora, Long philtrum |
OMIM:207410 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, High, narrow palate, Abnormality of the gingiva, Epispadias, Downturned corn... |
ORPHA:3107 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
Fanconi Anemia |
|
High palate, Abnormality of the uterus, Hypospadias, Spina bifida, Aplasia/Hypoplasia of the uvul... |
ORPHA:84 |
Fetal Gaucher Disease |
|
Neonatal death, Death in infancy, Stillbirth, High palate |
ORPHA:85212 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Proximal tubulopathy, Proteinuria, Renal cyst |
OMIM:212065 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst |
OMIM:610199 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Fused labia majora, Bifid scrotum, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Cryptorchidism, Dental malocclus... |
OMIM:101200 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism, Dental malocclusion, Cleft... |
OMIM:603457 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Neonatal death, Meckel... |
OMIM:311900 |
Floating-Harbor Syndrome |
|
Thin upper lip vermilion, Hypospadias, Celiac disease, Carious teeth, Cryptorchidism, Glandular h... |
OMIM:136140 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Short lingual frenulum, Bifid uterus, Abnormal reproductive system morphology, Wide mouth, High p... |
ORPHA:1521 |
Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H... |
ORPHA:201 |
Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
Acrofacial Dysostosis, Rodríguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
Donnai-Barrow Syndrome |
|
Proteinuria, Intestinal malrotation, Non-acidotic proximal tubulopathy, Bicornuate uterus, Umbili... |
OMIM:222448 |
Diamond-Blackfan Anemia 1 |
|
Cleft upper lip, Renal hypoplasia, Cleft palate, High palate, Colon cancer, Spina bifida occulta |
OMIM:105650 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cortical microcysts, Renal cyst, Hypospadias, Polycystic kidney dysplasia |
OMIM:614866 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... |
OMIM:618820 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Hypospadias, Septate vagina, Persistence of primary teeth, Cryptorchid... |
OMIM:300166 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Hydroureter, Protruding tongue, Gingival overgrowth, Cleft palate,... |
OMIM:259775 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Cleft upper lip |
OMIM:153400 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Acrorenal-Mandibular Syndrome |
|
Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicornuate uterus, High palate, Polyc... |
OMIM:200980 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Charge Syndrome |
|
Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, Cleft upper lip, Esoph... |
OMIM:214800 |
Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Malabsorption, Intestinal perforation, Abnormality of the urethra, ... |
ORPHA:537 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1454 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Cleft upper lip, Ectopic kidney, Cryptorchidism, Submuc... |
OMIM:607872 |
Hardikar Syndrome |
|
Renal insufficiency, Hydroureter, Cleft soft palate, Intestinal malrotation, Celiac disease, Esop... |
OMIM:301068 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Short... |
ORPHA:572333 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Neonatal death, Enlarged kidney,... |
OMIM:314390 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
22Q11.2 Deletion Syndrome |
|
Short philtrum, Abnormality of the uterus, Vesicoureteral reflux, Hypospadias, Abnormal dental en... |
ORPHA:567 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Deep philtrum, Non-midline cleft lip, Cleft palate, Pollakisuria, Anal atresia |
ORPHA:647 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... |
OMIM:301043 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Submucous ... |
OMIM:312870 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Nephronophthi... |
OMIM:266920 |
Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... |
ORPHA:2729 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
Floating-Harbor Syndrome |
|
Hypospadias, Persistence of primary teeth, Celiac disease, Carious teeth, Precocious puberty, Cry... |
ORPHA:2044 |
Branchiooculofacial Syndrome |
|
Hypospadias, Cleft upper lip, Malrotation of colon, Abnormality of the dentition, Lower lip pit, ... |
OMIM:113620 |
Kyphomelic Dysplasia |
|
Cleft palate, Cleft upper lip |
OMIM:211350 |
Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... |
ORPHA:2538 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Bifid uvula, Orofacial cleft, Cleft upper lip |
OMIM:229400 |
Afibrinogenemia, Congenital |
|
Death in infancy, Death in adolescence, Gingival bleeding, Death in childhood, Neonatal death |
OMIM:202400 |
D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Renal insufficiency, Uret... |
ORPHA:857 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... |
OMIM:252160 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Vaginal atresia |
OMIM:248450 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intest... |
ORPHA:199 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Carious teeth, Cryptorchidism, Grade III v... |
OMIM:619522 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Dental crowding, Aganglionic megacolon, Hypospadias, Cleft upper lip, High, narrow p... |
OMIM:309800 |
Alg9-Cdg |
|
Thin upper lip vermilion, Villous atrophy, Ureteral hypoplasia, Wide mouth, Hydronephrosis, Bicor... |
ORPHA:79328 |
Holoprosencephaly 14 |
|
Cleft lip, Median cleft lip, Cleft palate |
OMIM:619895 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Clitoral hypertrophy, Hypospadias, Septate vagina, Malabsorption, Urethrovag... |
OMIM:243800 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophagea... |
OMIM:265380 |
Autosomal Recessive Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Stage 5 chronic kidney... |
ORPHA:731 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
Cutis Marmorata Telangiectatica Congenita |
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Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Semilobar Holoprosencephaly |
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Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Median cleft lip, Cleft palate, Neural tube defect, High palate, Solitary median maxillary centra... |
ORPHA:93924 |
Von Hippel-Lindau Disease |
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Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Atelosteogenesis, Type I |
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Encephalocele, Cryptorchidism, Cleft palate, Stillbirth, Neonatal death |
OMIM:108720 |
Schinzel-Giedion Midface Retraction Syndrome |
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Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Hypoplastic... |
OMIM:269150 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, Vesicour... |
ORPHA:261537 |
Cerebrocostomandibular Syndrome |
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Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Caroli Disease |
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Polycystic kidney dysplasia |
ORPHA:53035 |
Fontaine Progeroid Syndrome |
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Thin upper lip vermilion, Death in infancy, Small scrotum, Protruding tongue, High, narrow palate... |
OMIM:612289 |
Cerebrocostomandibular Syndrome |
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Multicystic kidney dysplasia |
ORPHA:1393 |
Alagille Syndrome 1 |
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Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced teeth, Ves... |
ORPHA:2152 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca |
ORPHA:1112 |
Spondylocarpotarsal Synostosis Syndrome |
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Renal cyst |
OMIM:272460 |
Lacrimoauriculodentodigital Syndrome |
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Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Ulnar-Mammary Syndrome |
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Anal stenosis, Small scrotum, Pyloric stenosis, Bicornuate uterus, Hypodontia, Shawl scrotum, Mic... |
OMIM:181450 |
Schinzel-Giedion Syndrome |
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Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ... |
ORPHA:798 |
Tetrasomy 9P |
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Abnormal number of permanent teeth, Dental crowding, Abnormal dental enamel morphology, Median cl... |
ORPHA:3310 |
Pearson Syndrome |
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Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria |
ORPHA:699 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Anal stenosis, Rectoperineal fistula, Hypospadias, Multicystic kidney dysplasia, R... |
OMIM:107480 |
Lymphatic Malformation 13 |
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Hydrocele testis, Neonatal death, Smooth philtrum, Long philtrum |
OMIM:620244 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
C Syndrome |
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Renal cortical cysts |
OMIM:211750 |
Oculocerebrorenal Syndrome Of Lowe |
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Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
Syndromic Diarrhea |
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Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
Loeys-Dietz Syndrome |
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High palate, Bifid uvula, Orofacial cleft, Uterine rupture |
ORPHA:60030 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, Vesicour... |
ORPHA:261552 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Median cleft lip, Orofacial cleft |
ORPHA:3186 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Renal cyst |
ORPHA:495875 |
Cranioectodermal Dysplasia 2 |
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Renal insufficiency, Renal cyst |
OMIM:613610 |
Mosaic Variegated Aneuploidy Syndrome |
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Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Caroli Syndrome |
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Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Trisomy 10P |
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Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Autosomal Recessive Robinow Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
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Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Trichorhinophalangeal Syndrome, Type Ii |
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Chronic gastritis, Thin upper lip vermilion, Carious teeth, Bilateral cryptorchidism, Deep philtr... |
OMIM:150230 |
Meckel Syndrome |
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Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Restrictive Dermopathy 1 |
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Natal tooth, Ureteral duplication, Hypospadias, Submucous cleft hard palate, Hydropic placenta, S... |
OMIM:275210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Distal Deletion 15Q |
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Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias |
ORPHA:1596 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Cervical insufficiency, Thin vermilion border, Periodontitis, Uterine ... |
OMIM:130050 |
Vascular Ehlers-Danlos Syndrome |
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High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Uterine rupture, Micr... |
ORPHA:286 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Abnormal penis morphology, Dysuria, Oral mucosal blisters, Intestinal perforation, Moderate album... |
ORPHA:95455 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... |
ORPHA:116 |
Robinow Syndrome |
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Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Multicystic kidney dysplasia, Cleft upper lip, Ectopic kidney, Vesicoure... |
OMIM:164210 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis |
ORPHA:1606 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Micropenis, Renal cyst, Renal hypoplasia, Polycystic kidney dysplasia |
OMIM:210710 |
Jacobsen Syndrome |
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Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
Hajdu-Cheney Syndrome |
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Multiple renal cysts, Hypospadias |
ORPHA:955 |
Femoral-Facial Syndrome |
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Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia |
OMIM:134780 |
Chronic Graft Versus Host Disease |
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Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Hematuria, Esophageal u... |
ORPHA:99921 |
C Syndrome |
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Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Ogden Syndrome |
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Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:300855 |
Mednik Syndrome |
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Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
Williams Syndrome |
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Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Urethr... |
ORPHA:904 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Death in infancy, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral re... |
OMIM:308205 |
Primary Sjögren Syndrome |
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Renal insufficiency, Glomerulonephritis, Xerostomia, Tubulointerstitial nephritis, Vaginal drynes... |
ORPHA:289390 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft soft palate, Unilater... |
OMIM:619503 |
Classical Ehlers-Danlos Syndrome |
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Hiatus hernia, Rectal prolapse, Cervical insufficiency, Bladder diverticulum, Pulp calcification,... |
ORPHA:287 |
Proteus Syndrome |
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Enlarged polycystic ovaries, Long penis, Renal cyst |
ORPHA:744 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Holoprosencephaly 1 |
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Micropenis, Median cleft lip and palate |
OMIM:236100 |
Genitopatellar Syndrome |
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Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Norrie Disease |
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Cryptorchidism, Thin vermilion border, Uterine rupture |
ORPHA:649 |
Pmm2-Cdg |
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Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Proteinuria |
ORPHA:79318 |