Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 12 |
|
Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Branchial anomaly |
ORPHA:1296 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Ovarian neoplasm, Prostate cancer, Neoplasm of the large intestine... |
ORPHA:157798 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma |
OMIM:114500 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Septopreoptic Holoprosencephaly |
|
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... |
ORPHA:280195 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Molar tooth sign on MRI |
OMIM:619582 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Dysphagia, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Abnormal brain... |
ORPHA:99852 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Melena, Gastric adenocarcinoma |
OMIM:619182 |
Joubert Syndrome 4 |
|
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... |
OMIM:609583 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Joubert Syndrome 16 |
|
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... |
ORPHA:1532 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
High palate, Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensit... |
OMIM:308700 |
Intrinsic Factor Deficiency |
|
Malabsorption, Absence of intrinsic factor |
OMIM:261000 |
Joubert Syndrome 28 |
|
Optic disc pallor, Molar tooth sign on MRI |
OMIM:617121 |
Hydrolethalus Syndrome 2 |
|
Anencephaly, Hydrocephalus, Molar tooth sign on MRI |
OMIM:614120 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly, Cryptorchidism |
ORPHA:1131 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... |
OMIM:617622 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Dilated fourth ventricle, Anencephaly, Cerebellar hypoplasia, Molar toot... |
OMIM:614175 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI |
ORPHA:166024 |
Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
Meckel Syndrome, Type 4 |
|
Hydrocephalus, Anencephaly, Agenesis of cerebellar vermis, Meningocele, Encephalocele, Molar toot... |
OMIM:611134 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonad... |
OMIM:308750 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI |
OMIM:619111 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI |
OMIM:617120 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
OMIM:609166 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... |
ORPHA:1876 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Pr... |
ORPHA:206448 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology, Hypogonadism |
ORPHA:281090 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI |
OMIM:617767 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
Joubert Syndrome 32 |
|
Abnormal cerebellum morphology, Molar tooth sign on MRI |
OMIM:617757 |
Joubert Syndrome 7 |
|
Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem |
OMIM:611560 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Testicular atrophy |
OMIM:601163 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Abnormal cerebellum morphology, Hydrocephalus, Optic nerve hypoplasia, Occipital encephalocele, H... |
ORPHA:370959 |
Branchiootic Syndrome 3 |
|
Branchial cyst |
OMIM:608389 |
Joubert Syndrome 6 |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, T... |
OMIM:610688 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Hepatocellular carcinom... |
OMIM:235200 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Hypospadias, Cryptorchidism |
ORPHA:435938 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... |
ORPHA:370022 |
Joubert Syndrome 22 |
|
Molar tooth sign on MRI, Agenesis of cerebellar vermis |
OMIM:615665 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI |
OMIM:617127 |
Joubert Syndrome 17 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614615 |
Joubert Syndrome 8 |
|
Optic disc pallor, Occipital encephalocele, Molar tooth sign on MRI |
OMIM:612291 |
Joubert Syndrome 9 |
|
Encephalocele, Molar tooth sign on MRI |
OMIM:612285 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Joubert Syndrome 2 |
|
Elongated superior cerebellar peduncle, Hydrocephalus, Encephalocele, Dysgenesis of the cerebella... |
OMIM:608091 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI |
OMIM:617761 |
Joubert Syndrome 18 |
|
Molar tooth sign on MRI |
OMIM:614815 |
Coach Syndrome 1 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Occipital encephalocele, Optic disc pallor, Cerebell... |
OMIM:216360 |
Joubert Syndrome 35 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:618161 |
Spinocerebellar Ataxia Type 1 |
|
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ab... |
ORPHA:98755 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Dysphagia, Hypogonadism |
OMIM:160900 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... |
OMIM:213300 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Ventricular septal de... |
ORPHA:453499 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:277170 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Multiple gastric polyps, Stomach cancer, J... |
ORPHA:480536 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula |
ORPHA:50815 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:608629 |
Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Aganglionic ... |
ORPHA:2318 |
Joubert Syndrome 20 |
|
Molar tooth sign on MRI |
OMIM:614970 |
Joubert Syndrome 15 |
|
Molar tooth sign on MRI |
OMIM:614464 |
Joubert Syndrome With Renal Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Aganglionic ... |
ORPHA:220497 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Agenesis of cerebellar vermis, Abnormal brainstem morphology, Cerebellar vermis hy... |
ORPHA:163961 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI |
OMIM:607131 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Cerebellar atrophy, Abnormal midbrain morphology, Atrophy/Degeneration... |
ORPHA:356961 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Coach Syndrome 3 |
|
Molar tooth sign on MRI |
OMIM:619113 |
Joubert Syndrome With Ocular Defect |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Encephalocele, Molar tooth sign on MRI, Aganglionic ... |
ORPHA:220493 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Bilateral cryptorchidism, Pyloric stenosis |
ORPHA:314575 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619185 |
Sucrosuria, Hiatus Hernia And Mental Retardation |
|
Hiatus hernia |
OMIM:272000 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Oral leukoplakia |
OMIM:613987 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Duodenal polyposis, Adenocarcinoma of ... |
ORPHA:220460 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Occipital encephalocele, ... |
ORPHA:397715 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:619562 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... |
OMIM:619306 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Cryptorchidism, Hypoplasia of penis, Short neck, Tetralogy o... |
ORPHA:2162 |
Arima Syndrome |
|
Occipital meningocele, Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Age... |
OMIM:243910 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula |
OMIM:113650 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Harrod Syndrome |
|
High palate, High, narrow palate, External genital hypoplasia, Hypospadias, Malrotation of small ... |
OMIM:601095 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Midline brainstem cleft, Hydrocephalus, Hypoplasia of the pons |
OMIM:617542 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Cryptorchidism |
ORPHA:2617 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con... |
ORPHA:465508 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia, Absent mesencephalon |
OMIM:601374 |
Muir-Torre Syndrome |
|
Neoplasm of the liver, Salivary gland neoplasm, Endometrial carcinoma, Adenoma sebaceum, Colon ca... |
ORPHA:587 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis |
OMIM:614262 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Cystic hygroma, Branchial... |
ORPHA:352665 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal... |
OMIM:300048 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity... |
ORPHA:68 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Dys... |
OMIM:157640 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Dysphagia, Diabetes insipidus |
OMIM:222300 |
Japanese Encephalitis |
|
Abnormal pons morphology, Decreased motor nerve conduction velocity, Abnormal substantia nigra mo... |
ORPHA:79139 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect |
ORPHA:2260 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Cleft palate, Ele... |
OMIM:305400 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
Cerebellar-Facial-Dental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... |
ORPHA:444072 |
Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Rectal prolapse,... |
OMIM:174900 |
Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Myelopathy, Abnormality of ... |
ORPHA:268882 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI |
OMIM:616546 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morph... |
ORPHA:370997 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Branchial fistula, Atrial septal defect, Truncus arteriosus |
ORPHA:261330 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology |
ORPHA:300573 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux |
ORPHA:98892 |
Scleroderma |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:801 |
Reynolds Syndrome |
|
Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux |
ORPHA:779 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal atresia, Urethrovesical occlusion |
OMIM:226730 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Abn... |
ORPHA:90291 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid valve prolapse, Webbed neck, Branchial fistula, Ventricular septal defect, Cryptorchidi... |
ORPHA:261337 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Branchial anomaly |
ORPHA:466950 |
Joubert Syndrome 5 |
|
Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of cerebellar vermis, Thickened superior ce... |
OMIM:610188 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hepatocellular carcinoma, Esophageal varix, Gastric varix |
ORPHA:64743 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormal midbrain morphology |
ORPHA:314621 |
Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia |
OMIM:619476 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Branchial fistula, Encephalocele, Rectovaginal fistula, Smal... |
ORPHA:861 |
Microgastria-Limb Reduction Defects Association |
|
Gastroesophageal reflux, Bicornuate uterus, Intestinal malrotation, Splenogonadal fusion, Microga... |
OMIM:156810 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:616300 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Hiatus hernia, Gastroesophageal reflux, Intestinal malrotation, Tracheoesophageal f... |
ORPHA:2538 |
Lesch-Nyhan Syndrome |
|
Dysphagia, Testicular atrophy |
OMIM:300322 |
47,Xyy Syndrome |
|
Hydrocephalus, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Abnormal brainstem morp... |
ORPHA:8 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI |
OMIM:617563 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Abnormal duodenum ... |
ORPHA:512 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
Wolfram Syndrome 2 |
|
Oligomenorrhea, Primary amenorrhea, Gastric ulcer, Diabetes mellitus |
OMIM:604928 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:2720 |
Gangliocytoma |
|
Ganglioneuroma, Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain |
OMIM:616202 |
Meckel Syndrome, Type 1 |
|
Hydrocephalus, Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Anenceph... |
OMIM:249000 |
Orofaciodigital Syndrome Xiv |
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Holoprosencephaly, Cerebellar hypoplasia, Optic disc coloboma, Occipital encephalocele, Dandy-Wal... |
OMIM:615948 |
Orofaciodigital Syndrome Type 6 |
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Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
ORPHA:2754 |
Ulnar-Mammary Syndrome |
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Ectopic anus, Anal atresia, Hypoplasia of penis, Hypoplastic nipples, Pyloric stenosis, Breast ap... |
ORPHA:3138 |
Esophageal Atresia |
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Gastrointestinal carcinoma, Duodenal atresia, Gastroesophageal reflux, Cleft palate, Morphologica... |
ORPHA:1199 |
Postaxial Acrofacial Dysostosis |
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Supernumerary nipple, Cleft palate, Micropenis, Pyloric stenosis, Midgut malrotation, Cryptorchidism |
OMIM:263750 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity |
ORPHA:88619 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis |
OMIM:619479 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Ganglioneuroma, Abnormal autonomic nervous system physiology, Abnormal midbrain morphology |
ORPHA:293987 |
Branchiooculofacial Syndrome |
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Hypospadias, Short neck, Branchial anomaly, Cryptorchidism, Low posterior hairline |
OMIM:113620 |
X-Linked Intellectual Disability, Snyder Type |
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High palate, Testicular atrophy, Cleft palate, Hypospadias, Abnormality of the Leydig cells, Cryp... |
ORPHA:3063 |
Wilson Disease |
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Face of the giant panda sign, Decreased nerve conduction velocity |
OMIM:277900 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Congenital pyloric atresia, Urethral stricture, Intestinal atresia |
ORPHA:79403 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Familial Cerebral Saccular Aneurysm |
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Abnormal brainstem morphology |
ORPHA:231160 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Diffuse cerebellar atrophy, Abnormal autonomic nervous system physiology, Abnormal brainstem morp... |
ORPHA:93256 |
Witteveen-Kolk Syndrome |
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Male urethral meatus stenosis, Hypospadias, Branchial fistula, Unilateral cryptorchidism, Phimosi... |
OMIM:613406 |
Leigh Syndrome With Cardiomyopathy |
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Optic atrophy, Abnormal brainstem morphology |
ORPHA:70474 |
8Q24.3 Microdeletion Syndrome |
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Atrioventricular canal defect, Short neck, Spina bifida occulta, Ventricular septal defect, Compl... |
ORPHA:508488 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Hardikar Syndrome |
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Hematemesis, Intestinal malrotation, Bilateral cleft lip and palate, Gastric varix, Esophageal va... |
OMIM:301068 |
Ulnar-Mammary Syndrome |
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Anal atresia, Bicornuate uterus, Imperforate hymen, Micropenis, Axillary apocrine gland hypoplasi... |
OMIM:181450 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... |
ORPHA:93111 |
Williams Syndrome |
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Cholelithiasis, Abnormal gastric mucosa morphology, Precocious puberty, Type II diabetes mellitus... |
ORPHA:904 |
Craniofacial Microsomia |
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Ventricular septal defect, Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly |
OMIM:164210 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Congenital pyloric atresia, Abnormality of the urethra |
ORPHA:158684 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation |
ORPHA:434179 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Optic disc pallor, Abnormal brainstem morphology |
ORPHA:464311 |
Viss Syndrome |
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High palate, Chronic gastritis, Gastroesophageal reflux, High, narrow palate, Macroglossia, Intes... |
OMIM:619472 |
Semilobar Holoprosencephaly |
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Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Neural tube defect, Abnormality of the autonomic nervous system, Hydrocephalus, Abnormal brainste... |
ORPHA:93924 |