Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Lethal Congenital Contracture Syndrome 3 |
|
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency, Neonatal death, ... |
OMIM:611369 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Scapular winging, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Respirator... |
OMIM:617232 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Fibromatosis, Gingival, 1 |
|
Gingival fibromatosis |
OMIM:135300 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Lethal Congenital Contracture Syndrome 4 |
|
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Respiratory insufficie... |
OMIM:614915 |
Fibromatosis, Gingival, With Progressive Deafness |
|
Gingival fibromatosis |
OMIM:135550 |
Hereditary Gingival Fibromatosis |
|
Gingival fibromatosis |
ORPHA:2024 |
Fibromatosis, Gingival, 5 |
|
Gingival fibromatosis |
OMIM:617626 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... |
ORPHA:266 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Spinal Muscular Atrophy, Type I |
|
Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... |
OMIM:613736 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Cerebellar vermis atrophy, Gait ataxia |
OMIM:616410 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in adolescence, Resp... |
OMIM:300717 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... |
ORPHA:50944 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Muscular dystrophy |
OMIM:613869 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Cerebellar vermis atrophy, Gait ataxia |
ORPHA:211017 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... |
OMIM:604801 |
Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... |
ORPHA:320370 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Neoplasm, Hypospadias |
OMIM:310465 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... |
OMIM:616081 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... |
OMIM:224750 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Cerebellar ataxia associated with quadrupedal gait, Truncal ataxia |
OMIM:615268 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Congenital Myopathy 14 |
|
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Cerebellar dysplasia |
OMIM:615041 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis |
OMIM:605388 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617133 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... |
ORPHA:79405 |
Macroglossia |
|
Macroglossia |
OMIM:153630 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Upper limb muscle weakness, Paraparesis, Distal amyotrophy, Foot dorsiflexor weakness |
OMIM:302802 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... |
OMIM:278760 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture... |
OMIM:603689 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypertonia |
OMIM:614023 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Spastic Paraparesis And Deafness |
|
Tremor, Short stature, Spastic paraparesis |
OMIM:312910 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
OMIM:613630 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Squamous cell carcinoma, Squam... |
ORPHA:217390 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Ataxia |
OMIM:619333 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... |
OMIM:619334 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... |
OMIM:607641 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... |
ORPHA:79406 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Sprengel Deformity |
|
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature |
ORPHA:3181 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... |
ORPHA:158057 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... |
ORPHA:79411 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Cowden Syndrome 7 |
|
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Spastic Paraparesis-Deafness Syndrome |
|
Hemiplegia/hemiparesis, Short stature, Ataxia, Spastic paraparesis |
ORPHA:2815 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased ... |
OMIM:620265 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia |
OMIM:105550 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n... |
ORPHA:90117 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Radial-Renal Syndrome |
|
Chromosome breakage, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ... |
OMIM:614564 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... |
OMIM:302800 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2141 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia |
OMIM:601163 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Paraparesis, Ataxia, Tremor |
ORPHA:99014 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... |
OMIM:614399 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure |
ORPHA:132 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Paucity of anterior horn motor n... |
OMIM:611890 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... |
OMIM:615157 |
Fanconi Anemia, Complementation Group P |
|
Pelvic kidney, Horseshoe kidney, Chromosomal breakage induced by crosslinking agents, Squamous ce... |
OMIM:613951 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... |
ORPHA:2591 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Truncal ataxia |
OMIM:604432 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2926 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Progressive spastic paraparesis, Moderately short stature, Babinski sig... |
ORPHA:506353 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Nail dystrophy, Squamous cell carcinoma |
OMIM:615225 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Chromosome breakage, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Microphthalmia, Syndromic 12 |
|
Congenital diaphragmatic hernia |
OMIM:615524 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
Acrocallosal Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:36 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Placental Insufficiency |
|
Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen... |
ORPHA:439167 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma,... |
ORPHA:79409 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Resp... |
OMIM:611067 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Hammertoe, Distal a... |
OMIM:616287 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Respiratory failure, Limb muscle weakness |
OMIM:600561 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Elbow contracture, Facial palsy, Achilles tendon contracture, Proximal a... |
OMIM:606612 |
Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:380 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Gait ataxia |
ORPHA:98769 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... |
ORPHA:101077 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Flexion... |
ORPHA:2590 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin, Nail dystrophy |
OMIM:181600 |
Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Babinski sign, Limb ataxia, Gait ataxia, Lower limb hypertonia, Upper limb hypert... |
OMIM:613672 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve cond... |
OMIM:604320 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
Werner Syndrome |
|
Renal neoplasm, Sparse scalp hair, Acral lentiginous melanoma, Abnormal hair whorl, Breast carcin... |
ORPHA:902 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... |
ORPHA:3032 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypoplasia of the musculature |
OMIM:253310 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Mast Syndrome |
|
Incoordination, Babinski sign, Spastic paraplegia, Athetosis, Dysdiadochokinesis, Hypertonia, Spa... |
OMIM:248900 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Desmoid Tumor |
|
Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of the skin, Fibroma, Hydronephr... |
ORPHA:873 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171433 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... |
OMIM:243700 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... |
OMIM:616867 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Nemaline Myopathy 10 |
|
Death in infancy, Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle ... |
OMIM:616165 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:608709 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Immunodeficiency 54 |
|
Chromosome breakage, Lymphoproliferative disorder |
OMIM:609981 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Elevated circulating as... |
OMIM:245400 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Upp... |
ORPHA:254343 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
OMIM:618412 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Complement Component 4A Deficiency |
|
Glomerulonephritis |
OMIM:614380 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Congenital contracture |
OMIM:225753 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Achilles ... |
OMIM:620249 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers |
OMIM:616794 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Abnormality of the ... |
ORPHA:79410 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma, Abnormality of the ovary, Hirsutism |
ORPHA:314478 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis |
ORPHA:231445 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Schisis Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63862 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Strid... |
OMIM:606071 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia |
ORPHA:1166 |
Spastic Paraplegia 48, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Parkinsonism, Spastic paraplegia, Dysmetria, Spastic paraparesis, ... |
OMIM:613647 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Polyhydramnios, Anencephaly, Cleft palate, Stillbirth, Intrauterine growth reta... |
OMIM:236680 |
Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
Autosomal Dominant Spastic Paraplegia Type 73 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Progressive spastic paraparesis, Babinski si... |
ORPHA:444099 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Neoplasm of the lung... |
ORPHA:99867 |
Cebalid Syndrome |
|
Polymicrogyria, Congenital diaphragmatic hernia |
OMIM:618774 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm |
OMIM:618901 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia |
OMIM:300887 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Paraparesis, Oromotor apraxia, Clumsiness, Bradykinesia, Myoclonus... |
OMIM:617854 |
Congenital Macroglossia |
|
Neurofibroma |
ORPHA:2430 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior ho... |
ORPHA:2254 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Ulnar deviation of the hand, Short stature, Flexion contracture, Babinski ... |
OMIM:275900 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Thyroiditis, Glomerulonephritis, Hodgkin lymphoma |
OMIM:619375 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... |
OMIM:150800 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Respiratory failure |
ORPHA:890 |
Hyperekplexia 4 |
|
Respiratory failure, Flexion contracture, Distal arthrogryposis, Camptodactyly |
OMIM:618011 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... |
OMIM:612999 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Donnai-Barrow Syndrome |
|
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:2143 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia, Intraute... |
OMIM:619057 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Calf muscle hypertrophy,... |
OMIM:158900 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency, Proximal amyotrophy, My... |
OMIM:605355 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... |
OMIM:606070 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Dysmetri... |
OMIM:617633 |
Epilepsy, Progressive Myoclonic, 9 |
|
Simplified gyral pattern, Microglossia, Generalized amyotrophy |
OMIM:616540 |
Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Melanoma, Basal cell carcinom... |
OMIM:278740 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ... |
ORPHA:678 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis, Intention tremor |
ORPHA:423275 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis, Exostoses |
ORPHA:251076 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Skeletal muscle atrophy |
ORPHA:247604 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Lymphoproliferative disorder, Stage 5 chronic kidney disease,... |
OMIM:615559 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A... |
ORPHA:52430 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in... |
OMIM:614487 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, High, narrow p... |
OMIM:208150 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Spastic paraparesis |
ORPHA:67047 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:95706 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
Sprengel Deformity |
|
Shoulder muscle hypoplasia, Neck muscle hypoplasia |
OMIM:184400 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Myopathy, Respiratory failure, Stillbirth, Decreased liver functi... |
OMIM:614922 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:139466 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Abnormality of neuronal migration, Congenital diaphragmatic hernia |
ORPHA:2063 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Abnormal renal morphology, Horsesho... |
OMIM:227650 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hypoplasia of the musculature, Cleft palate, Hydranencephaly, Intrauterine growth retardation, Jo... |
OMIM:225790 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity |
OMIM:616414 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Deficient excisio... |
OMIM:600901 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Myasthenic Syndrome, Congenital, 10 |
|
Weakness of facial musculature, Distal amyotrophy, Tongue atrophy, Proximal amyotrophy |
OMIM:254300 |
Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamou... |
OMIM:278720 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... |
ORPHA:1145 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Bronchiectasis, Squamous cell... |
OMIM:210900 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No... |
ORPHA:454836 |
Yellow Nail Syndrome |
|
Renal neoplasm, Sinusitis, Bronchiectasis, Neoplasm of the lung, Neoplasm, Rhinitis, Nephropathy,... |
ORPHA:662 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Skeletal muscle atrophy, Abnormality of skeletal muscle f... |
OMIM:620278 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
Cooper-Jabs Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Nail dy... |
OMIM:148210 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Death in infancy, Respiratory failure, Intrauterine growth retardation, Polymicrogyria |
OMIM:610678 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Squamous cell carcinoma |
OMIM:226600 |
X-Linked Intellectual Disability, Seemanova Type |
|
Skeletal muscle atrophy, Hypoplasia of the musculature |
ORPHA:85323 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Intrinsic hand muscle atrophy, Upper limb amyotrophy, Amyotrophy of... |
ORPHA:90103 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Intrauterine growth retardation, Severe intrauterine growth retardatio... |
ORPHA:73272 |
Xp22.13P22.2 Duplication Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:284180 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Squamous cell carcinoma, Fine hair, Basal cell carcinoma, Nail dystr... |
OMIM:601675 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Truncal ataxia, Low... |
OMIM:300100 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Coffin-Siris Syndrome 3 |
|
Macroglossia, Central diaphragmatic hernia, Umbilical hernia, Inguinal hernia |
OMIM:614608 |
Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... |
OMIM:162260 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Chromomycosis |
|
Keratitis, Keratoconjunctivitis sicca, Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Intrauterine growth retardation, Cleft palate, Small placenta, Oligohydramnios |
ORPHA:397590 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Distal lower limb amyotrophy, Babinski sign, Abnormal pyramidal sign, Dysmetria, Spastic dysarthr... |
OMIM:616680 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, P... |
OMIM:615330 |
Fragile X Syndrome |
|
Chronic otitis media, Folate-dependent fragile site at Xq28, Sinusitis, Otitis media |
ORPHA:908 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Ragged-red muscle fibers, Myopathy, Re... |
ORPHA:352447 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amyotrophy, Dysdiadocho... |
ORPHA:313772 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... |
ORPHA:352540 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ... |
OMIM:602099 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:300978 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula... |
OMIM:619386 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:63260 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:263210 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis |
OMIM:617691 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Respiratory i... |
OMIM:615512 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency |
OMIM:276950 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis |
ORPHA:27 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Pericarditis, B-c... |
ORPHA:91139 |
Aicardi Syndrome |
|
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma, Sparse lateral ... |
OMIM:304050 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder flexion contrac... |
OMIM:620369 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Diastasis recti, Polyhydramnios |
ORPHA:254534 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains |
OMIM:619858 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Spastic paraparesis |
OMIM:615643 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... |
ORPHA:803 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... |
OMIM:613254 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell carcinoma of the skin, N... |
OMIM:620365 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Myopathy, Respiratory failure, Cirrhosis, Hepatic steatosis |
ORPHA:363400 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... |
OMIM:620285 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Ectopic kidney |
OMIM:617247 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Camptodactyly of finger, Flexion contracture, Respiratory failure... |
ORPHA:1194 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle... |
ORPHA:101076 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Myoclonus, Spastic parap... |
ORPHA:391417 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange, Malar rash |
OMIM:618097 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Deficient excisio... |
OMIM:227645 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia |
OMIM:606164 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia |
OMIM:617450 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S... |
OMIM:162210 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Tongue atrophy, Lower limb muscle weakness, Foot dorsiflexor weakness |
OMIM:616155 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmonary ... |
OMIM:619751 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Severe short stature, Ataxia, Proportionate short stature, Spastic tetra... |
ORPHA:3208 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Optic atrophy, Respiratory insuf... |
OMIM:614299 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th... |
ORPHA:79434 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Carey-Fineman-Ziter Syndrome 1 |
|
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Pierre... |
OMIM:254940 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Flexion contracture, Respirato... |
OMIM:618186 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Multiple joint contractu... |
ORPHA:70 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:219100 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Thin upper lip vermilion, Foot joint contracture, Facial palsy, Hyperechogenic panc... |
ORPHA:456312 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Exaggerated cupid's bow, Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Ma... |
ORPHA:254528 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:250999 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Optic atrop... |
OMIM:220110 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Chromosomal... |
OMIM:609053 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... |
ORPHA:171430 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapula... |
ORPHA:26791 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, G... |
ORPHA:496756 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
15Q24 Microdeletion Syndrome |
|
Hernia, Congenital diaphragmatic hernia |
ORPHA:94065 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Leigh Syndrome |
|
Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Abnormal ... |
OMIM:256000 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... |
ORPHA:221008 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Atopic dermatitis, Colonic eosinophilia, Membranous nephropathy |
OMIM:618999 |
Thoracoabdominal Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Ventral hernia |
OMIM:313850 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne... |
OMIM:620296 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Horseshoe kidney, Micropenis, Defic... |
OMIM:227646 |
Oculocerebrocutaneous Syndrome |
|
Polymicrogyria, Congenital diaphragmatic hernia |
ORPHA:1647 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Seckel Syndrome 9 |
|
Simplified gyral pattern, Congenital diaphragmatic hernia |
OMIM:616777 |
Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Abnormality of the dentition, Hypersplenism, Splenomegaly, Jaundic... |
ORPHA:231226 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Respiratory failure, A... |
ORPHA:98755 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Sparse or ab... |
ORPHA:221016 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Paraparesis, Femoral bowing, Tetraparesis, Osteosclerosis ... |
OMIM:602080 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... |
ORPHA:733 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:616437 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Myelodysplasia, Sparse eyebrow, Squamous cell carcinoma, Mela... |
ORPHA:2909 |
Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic... |
OMIM:619644 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:2311 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Hypospadias, Myelodysplasia, Phimo... |
OMIM:305000 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1915 |
Donnai-Barrow Syndrome |
|
Omphalocele, Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia |
OMIM:222448 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1120 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Abnormal preputium morphology, Abnormality of the urethra, Pustule, Squamous cell carcino... |
ORPHA:2907 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Fac... |
OMIM:617114 |
Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Narrow mouth, Whistling appearance, Elbow flexion contracture, Knee... |
OMIM:277720 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Rha... |
OMIM:609015 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Neoplasm |
ORPHA:100 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Death in infancy, Abnormal pyramidal sign, Spastic paraparesis, Joint co... |
OMIM:260600 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Tracheomalacia, Respiratory insufficiency |
OMIM:245650 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Babinski sign, Spastic paraparesis, Distal l... |
OMIM:500013 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apn... |
OMIM:608836 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contr... |
OMIM:305620 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Abnormal cortical gyration, Polymicrogyria, Submucous cleft hard palate,... |
ORPHA:899 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hypertrichosis |
OMIM:619750 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocytoma cutis, Sterile pyuria, Tu... |
ORPHA:449395 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... |
ORPHA:2912 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Cleft palate, Lobulated tongue, Intrahepatic biliary atresia, Camptodact... |
OMIM:614815 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphoproliferative disorder, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kid... |
ORPHA:1830 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Eczema |
OMIM:617052 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Neu-Laxova Syndrome |
|
Skeletal muscle atrophy, Abnormality of the philtrum, Abnormal cortical gyration, Spina bifida, P... |
ORPHA:2671 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypoplasia of the musculature, Abnormality of the dentition, Hypersplenism, Splenom... |
ORPHA:231214 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2470 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Weakness of facial musculature, Paraparesis, Flexion contracture, Oromotor... |
ORPHA:98889 |
Trisomy 1Q |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:261344 |
Emanuel Syndrome |
|
Inguinal hernia, Joint contracture, Torticollis, Congenital diaphragmatic hernia |
OMIM:609029 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Thyroid carcinoma, B-cell lymphoma, T-cell lymphoma, Hodgkin lymphoma, Hepatiti... |
ORPHA:3261 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Skeletal muscle atrophy, Lower limb spasticity, Tibialis muscle weakness, Babinski sign, Upper li... |
ORPHA:320375 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Zaki Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619648 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Pachygyria, Apnea, Respiratory failure |
ORPHA:168486 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2075 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Parkinsonism, Paraparesis, Generalized limb muscle atrophy, Distal amyotrophy, Abnormalit... |
ORPHA:2822 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Myelitis |
ORPHA:71211 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... |
ORPHA:3467 |
Intellectual Disability-Strabismus Syndrome |
|
Achilles tendon contracture, Joint contracture of the hand, Congenital finger flexion contracture... |
ORPHA:363528 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Limb tremor, Dysmetria, Gait atax... |
OMIM:614877 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Lig4 Syndrome |
|
Abnormality of chromosome stability, Lymphoma, Hypoplasia of penis, Acute leukemia |
ORPHA:99812 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:1834 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
Halperin-Birk Syndrome |
|
Umbilical hernia, Inguinal hernia, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:618651 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... |
ORPHA:308552 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory ... |
ORPHA:99931 |
Cowden Syndrome 1 |
|
Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Me... |
OMIM:158350 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... |
OMIM:606353 |
Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Defective DNA repair after ultraviolet radiation damage, Melanoma, Conjunctivitis, Squ... |
OMIM:278700 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Phimosis, Neoplasm of the urethra, Cheilitis, Squa... |
ORPHA:2908 |
Marinesco-Sjögren Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Myopathy, Muscula... |
ORPHA:559 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia, Dysmetria, Spastic paraplegia... |
OMIM:238970 |
3Mc Syndrome 2 |
|
Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle agenesis, C... |
OMIM:265050 |
Farber Disease |
|
Skeletal muscle atrophy, Short stature, Paraparesis, Short toe, Flexion contracture, Myoclonus, S... |
ORPHA:333 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, High pala... |
ORPHA:530 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:2409 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Death in infancy, Optic neuropathy, Dyspnea, Rhabdomyolysis, Optic atrophy, Respira... |
OMIM:610505 |
Mitochondrial Trifunctional Protein Deficiency |
|
Rhabdomyolysis, Cholestasis, Respiratory insufficiency, Skeletal myopathy, Respiratory failure, L... |
ORPHA:746 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Prote... |
ORPHA:1018 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Esophageal c... |
ORPHA:391487 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis |
ORPHA:53721 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Spastic paraparesis, Limb muscle wea... |
ORPHA:363722 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Distal amyotrophy, Flexion contracture, Optic atrophy, Respiratory failure |
OMIM:616505 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Speech apraxia, Skeletal muscle atrophy, Short stature, Abnormal thumb morphology, Abnormal hand ... |
ORPHA:101000 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... |
ORPHA:258 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Hypospadias, Carcinoma |
OMIM:610644 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... |
ORPHA:2137 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney, Chromosomal brea... |
OMIM:603467 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia |
OMIM:611812 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Defective DNA repair after ultraviolet radiation dam... |
ORPHA:33364 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Facial palsy, Rigidity, Head titubation, Babinski sign, Choreoathetosis, Progressive spas... |
OMIM:608804 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Unilateral renal agenesis, Renal hypoplasia, Micropenis, Chromosomal breakag... |
OMIM:614083 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, High palate, Nar... |
ORPHA:2463 |
Emanuel Syndrome |
|
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia |
ORPHA:96170 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... |
ORPHA:99880 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ... |
OMIM:620040 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Swollen lip, Cleft upper lip, Polyhydramnios, Fetal akine... |
OMIM:256520 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:1001 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Renal insufficiency, Recurrent urinary tract infections, Pneumoni... |
ORPHA:36234 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm |
ORPHA:2437 |
Primary Lateral Sclerosis |
|
Weakness due to upper motor neuron dysfunction, Progressive spastic paraparesis, Babinski sign, S... |
ORPHA:35689 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:612530 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Pontocerebellar Hypoplasia, Type 1B |
|
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Tongue fasciculations |
OMIM:614678 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Bronchiectasis, Hodgkin lymp... |
OMIM:615816 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Neonatal respiratory distress, Death in infancy, Splenomegaly, Jaundice, Respirator... |
OMIM:607625 |
Snakebite Envenomation |
|
Epistaxis, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Muscle fiber necrosis |
ORPHA:449285 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Respiratory failure, Death in infancy |
OMIM:614862 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... |
ORPHA:143 |
Developmental And Epileptic Encephalopathy 82 |
|
Short stature, Spastic tetraplegia, Spastic paraparesis |
OMIM:618721 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Squamous cell carcinoma |
ORPHA:89842 |
Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261197 |
Restrictive Dermopathy |
|
Natal tooth, Decreased fetal movement, Multiple joint contractures, Premature birth, Camptodactyl... |
ORPHA:1662 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... |
ORPHA:201 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular... |
ORPHA:444013 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Pentalogy Of Cantrell |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:1335 |
Systemic Sclerosis |
|
Renal insufficiency, Barrett esophagus, Pericarditis, Abnormality of the kidney, Osteomyelitis, P... |
ORPHA:90291 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Abnormality of the liver, Respiratory failure, Muscular dystrophy,... |
ORPHA:88618 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Umbilical h... |
OMIM:208050 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Facial palsy, Upper limb muscle weakness, Distal amyotrophy, Tongue fasciculations |
OMIM:601596 |
Renal Cell Carcinoma, Papillary, 1 |
|
Papillary renal cell carcinoma |
OMIM:605074 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Camptodactyly, Intrau... |
OMIM:613604 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Inflammation of the large intestine, Pancolitis, Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx, Macrog... |
ORPHA:280210 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial... |
OMIM:265000 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respirato... |
ORPHA:555874 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Abnormal sperm motility, Productive cough, Asplenia, Wheezing, Bro... |
ORPHA:244 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1780 |
Alg1-Cdg |
|
Respiratory failure, Decreased liver function |
ORPHA:79327 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Cerebrotendinous Xanthomatosis |
|
Resting tremor, Ataxia, Parkinsonism, Paraparesis, Abnormal tibia morphology, Tendon xanthomatosi... |
ORPHA:909 |
Sjogren-Larsson Syndrome |
|
Spasticity, Flexion contracture, Short stature, Spastic paraparesis |
OMIM:270200 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Dental crowding, Hypoplasia of the musculature, Ankle flexion contracture, Flexi... |
ORPHA:2020 |
Vacterl/Vater Association |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:887 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Monosomy 22 |
|
Aplasia of the thymus, Synophrys, Schwannoma, Gonadal neoplasm, Sparse hair, Meningioma, Sarcoma |
ORPHA:96123 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:958 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:251071 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam... |
ORPHA:79432 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Diastas... |
ORPHA:2092 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Aplasia of the pectorali... |
ORPHA:1358 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Muscular dystrophy, Increased variability in muscle fiber diameter, Polymicr... |
OMIM:616538 |
Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Red-brown urine, Porphyrinuria, Squamous cell carcinoma, Scl... |
ORPHA:79277 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
OMIM:616364 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood |
OMIM:617186 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in... |
OMIM:613845 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture |
OMIM:607225 |
Alg9-Cdg |
|
Smooth philtrum, Hepatomegaly, Torticollis, Thin upper lip vermilion, Villous atrophy, Hypoplasia... |
ORPHA:79328 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Respiratory failure, Intrauterine growth retardation, Dysgyria, Limb hype... |
OMIM:620327 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... |
ORPHA:37042 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, H... |
OMIM:205100 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:614294 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia, Polymicrogyria |
OMIM:618454 |
Gaucher Disease, Type Iii |
|
Short stature, Myoclonus, Ataxia, Spastic paraparesis |
OMIM:231000 |
Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology, Distal amyotrophy |
OMIM:215470 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Arachnoid Cyst |
|
Facial palsy, Paraparesis, Slurred speech, Hemiparesis, Tetraparesis, Lower limb muscle weakness |
ORPHA:2356 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Bradykinesia, Spastic paraparesis, Spasticity... |
ORPHA:289560 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polymicrogyria, Congenital diaphragmatic hernia |
OMIM:616546 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
Metatropic Dysplasia |
|
Arthrogryposis multiplex congenita, Respiratory failure, Flexion contracture, Respiratory insuffi... |
OMIM:156530 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... |
ORPHA:563 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom... |
ORPHA:636 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Respiratory failure |
ORPHA:3226 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Optic disc pallor, Skeletal muscle atrophy, Apnea, Death in infancy, Optic neuropat... |
OMIM:252010 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Hypoplasia of the musculature, High, narrow palate, Long philtrum, Umbil... |
ORPHA:1101 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Optic atrophy, Hepatosplenomegaly, R... |
OMIM:259720 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:601186 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Paraparesis, Cerebral palsy, Spastic tetraparesis |
OMIM:620358 |
Encephalocraniocutaneous Lipomatosis |
|
Astrocytoma, Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydronephrosis, Subc... |
OMIM:613001 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Abnormality of the pancreas, Jaundice, Abnormalities ... |
OMIM:222470 |
Oligomeganephronia |
|
Congenital diaphragmatic hernia |
ORPHA:2260 |
Trisomy 13 |
|
Abnormality of the ureter, Multiple renal cysts, Capillary hemangioma, Displacement of the urethr... |
ORPHA:3378 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Hypogeusia, Furrowed tongue, Ham... |
ORPHA:2930 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Shoulder muscle hypop... |
ORPHA:1826 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... |
ORPHA:805 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft upper lip, Flexion contracture, Cleft palate, Amyoplasia, Intrauterine growth retardation |
OMIM:312150 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Death in childhood |
OMIM:618252 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, Recurre... |
ORPHA:647 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Optic atrophy, Respiratory insufficiency, Respiratory failure, Bil... |
OMIM:618329 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Respiratory failure, Camptodactyly |
OMIM:618804 |
Fryns Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:2059 |
Meningioma |
|
Urinary incontinence, Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage indu... |
ORPHA:2495 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Dental malocclusion, Hypodontia, Intrauterine growth retardation, ... |
OMIM:253250 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Optic atrophy, Respirator... |
OMIM:617301 |
Iniencephaly |
|
Omphalocele, Arthrogryposis multiplex congenita, Lissencephaly, Congenital diaphragmatic hernia |
ORPHA:63259 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Respiratory failure requiring assisted ventilation, ... |
ORPHA:496641 |
Diaphanospondylodysostosis |
|
Intrauterine growth retardation, Polymicrogyria, Abnormal liver lobulation, Cleft palate |
OMIM:608022 |
Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoar... |
ORPHA:2035 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Inguinal hernia, Elbow flexion contracture, Congenital diaphragmati... |
OMIM:245600 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Prune1-Related Neurological Syndrome |
|
Clonus, Spastic tetraparesis, Bilateral talipes equinovarus, Tongue fasciculations, Spastic parap... |
ORPHA:544469 |
Rift Valley Fever |
|
Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Pagod Syndrome |
|
Omphalocele, Abnormality of neuronal migration, Congenital diaphragmatic hernia |
ORPHA:991 |
Adult Krabbe Disease |
|
Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsiness, Upper limb mus... |
ORPHA:206448 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... |
ORPHA:101085 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia |
ORPHA:268249 |
Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, 4-5 finger syndactyly, Spasticity, Joint contracture of the 5th finger, Tetr... |
OMIM:164200 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Abnormality of the kidney, Rena... |
ORPHA:289390 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections |
OMIM:619218 |
Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hemiparesis, Paraparesis, Paraplegia |
ORPHA:79124 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Tongue atrophy, Elbow flexion contracture, Cleft palate, Furrowed tongue, ... |
OMIM:615065 |
Kagami-Ogata Syndrome |
|
Pursed lips, Premature birth, Diastasis recti, Polyhydramnios, Large placenta, Broad philtrum |
ORPHA:254519 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Enuresis nocturna, Arthritis, Chromosomal breakage induced by ion... |
ORPHA:420741 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:614080 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis, Decreased liver function |
OMIM:602199 |
Baller-Gerold Syndrome |
|
Lymphoma, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux, Hydr... |
ORPHA:1225 |
Trisomy 18 |
|
Omphalocele, Hernia, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:3380 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:618846 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... |
ORPHA:101330 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Prem... |
ORPHA:363618 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle ... |
ORPHA:365 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Lethal Congenital Contracture Syndrome 9 |
|
Thin upper lip vermilion, Elbow extension contracture, Decreased fetal movement, Polyhydramnios, ... |
OMIM:616503 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Metatarsus adductus, Short toe, 4... |
ORPHA:3041 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Craniofrontonasal Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia |
OMIM:304110 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Pneumonia, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubul... |
ORPHA:340 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
Coasy Protein-Associated Neurodegeneration |
|
Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Intestinal malrotation, Spina bifida, Asplenia, Cleft palate, High palat... |
ORPHA:99776 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Acute Transverse Myelitis |
|
Paraparesis, Babinski sign, Paraplegia, Upper limb muscle weakness, Abnormality of extrapyramidal... |
ORPHA:139417 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Amyoplasia, Flexion contracture, Cleft palate |
OMIM:253290 |
Branchio-Oculo-Facial Syndrome |
|
Hemangioma, Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1297 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa... |
ORPHA:79138 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Simplified gyral pattern, Congenital diaphragmatic hernia |
ORPHA:96121 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Recurrent otitis media, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion |
ORPHA:542323 |
Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Pneu... |
ORPHA:2968 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ... |
ORPHA:206436 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Myelodysplasia, Premature graying of hair, Squamous cell carcinoma of the skin, Nail dy... |
OMIM:127550 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic hernia, Umbilical he... |
OMIM:613177 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Boomerang Dysplasia |
|
Absent radius, Severe short stature, Neonatal death, Fibular aplasia |
OMIM:112310 |
Spinocerebellar Ataxia 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... |
ORPHA:157794 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Opitz Gbbb Syndrome |
|
Omphalocele, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
ORPHA:2745 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastom... |
OMIM:251260 |
Scimitar Syndrome |
|
Hypoplasia of the diaphragm, Abnormal hemidiaphragm morphology |
ORPHA:185 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Optic atrophy, Myopathy, Respiratory failur... |
ORPHA:506 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Elbow flexion contracture, Congenital diaphragmatic hernia, Hiatus hernia |
OMIM:122470 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal mesentery morphology, Cleft palate, Intrauterine growt... |
ORPHA:2167 |
Meacham Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:3097 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:1272 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Upper limb muscle weakness, Facial dipl... |
ORPHA:254930 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Respiratory failure, Pneumothorax, Hepatic steatosis |
ORPHA:445038 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Respiratory failure |
ORPHA:83313 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Abnormal cortical gyration, Hamartoma of tongue, Cleft upper lip, Pancreatic cy... |
OMIM:311200 |
Cystic Echinococcosis |
|
Membranous nephropathy, Renal cyst |
ORPHA:400 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Greenberg Dysplasia |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I... |
OMIM:215140 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Distal lower limb amyotrophy, Thin upper lip vermilion, Facial hypotonia, Diastema, Flexion contr... |
OMIM:300534 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, P... |
ORPHA:60025 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Cowden Syndrome 6 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr... |
OMIM:615109 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Incoordination, Short stature, Ataxia, Macroglossia, Arthrogryposis-like hand anomaly... |
ORPHA:369891 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
Holoprosencephaly |
|
Omphalocele, Abnormality of neuronal migration, Congenital diaphragmatic hernia |
ORPHA:2162 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Umbilical hern... |
OMIM:612938 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy |
ORPHA:2707 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Faciocardiomelic Dysplasia, Lethal |
|
Microglossia, Narrow mouth |
OMIM:227270 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Cholangitis, Portal hypertension, ... |
ORPHA:731 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Anal atresia, Thin upper lip vermilion, Natal tooth, Camptodactyly of fi... |
OMIM:249000 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Babinski sign, Growth delay, Spastic paraparesis, Hand apraxia |
ORPHA:280229 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension, Neurogenic bladder |
OMIM:263570 |
Acrorenal-Mandibular Syndrome |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:200980 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis |
OMIM:619338 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Death in childhood |
OMIM:619847 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia |
OMIM:606744 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia |
OMIM:309801 |
Spinocerebellar Ataxia Type 36 |
|
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Proportionate short stature, Deviation of the 5th toe, Slender toe, Spastic paraparesis, Severe p... |
ORPHA:391408 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis, Facial hemangioma |
ORPHA:7 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Hydronephrosis, Cholesteatoma |
OMIM:611209 |
Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... |
ORPHA:1304 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Restrictive Dermopathy 1 |
|
Natal tooth, Spontaneous chorioamniotic separation, Decreased fetal movement, Limb joint contract... |
OMIM:275210 |
Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Aplasia of the pectorali... |
ORPHA:570 |
Mosaic Trisomy 16 |
|
Premature birth, Large placenta, Anteriorly placed anus, Wide mouth, Single umbilical artery, Int... |
ORPHA:1708 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate |
OMIM:618356 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Camptodactyly of finger, Pyloric stenosis, Submucous cleft hard palate, ... |
ORPHA:2461 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Truncal ataxia, Sp... |
OMIM:105210 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Listeriosis |
|
Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, Rhabdomyolysi... |
ORPHA:533 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Scapular winging, Hypoplasia of the musculature, Carious teeth, Umbili... |
OMIM:278250 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Umbilical hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Congenital diaphragmatic he... |
OMIM:600001 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Facial hypotonia, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hi... |
OMIM:618106 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Hydronephrosis |
OMIM:619762 |
Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Neurogenic bladder, Distal lower... |
ORPHA:276244 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/H... |
ORPHA:373 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Acrofacial Dysostosis 1, Nager Type |
|
Polymicrogyria, Congenital diaphragmatic hernia |
OMIM:154400 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Renal agenesis, Micropenis |
OMIM:300514 |
Monosomy 9P |
|
Hernia, Congenital diaphragmatic hernia |
ORPHA:261112 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Narrow palate |
ORPHA:313892 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Spastic paraparesis |
OMIM:277580 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:608779 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i... |
ORPHA:90068 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia |
OMIM:617809 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Tachypnea, Respiratory insufficiency, Hepatosplen... |
OMIM:618278 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Malar ... |
ORPHA:536 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis |
OMIM:301056 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Myopathy, Respiratory failure, Hepatic fibrosis, Cir... |
ORPHA:14 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest |
OMIM:617248 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:614437 |
Psoriasis 14, Pustular |
|
Geographic tongue, Furrowed tongue |
OMIM:614204 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin... |
ORPHA:466768 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Tachypnea, Cholestasis, Respiratory insuffici... |
OMIM:613658 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Gray matter heterotopia, Abnormal tongue morphology |
ORPHA:531151 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:273395 |
Pallister-Hall-Like Syndrome |
|
Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Igg4-Related Pachymeningitis |
|
Paraparesis, Lower limb muscle weakness |
ORPHA:449427 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia |
OMIM:617641 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Polyhydramni... |
ORPHA:116 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Death in infancy, Microvesicular hepatic steatosis, Flexion contra... |
OMIM:300868 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Midline facial capilla... |
OMIM:146510 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Endometrial carcinoma, Breast carcinoma, Duplication of renal pelvis, Melanoma |
ORPHA:457212 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Toe syndactyly, Short stature, Bilateral camptodactyly, Growth delay, Talipes equinovarus, Delaye... |
OMIM:619234 |
Lelis Syndrome |
|
Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2322 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Proximal muscle we... |
ORPHA:99956 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Glossitis, Cheilitis |
ORPHA:90045 |
Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Peroneal muscle weakness, Hand muscle weakness... |
ORPHA:90658 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neonatal death, Intraut... |
OMIM:311900 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Tongue fasciculations |
OMIM:211530 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
Wolf-Hirschhorn Syndrome |
|
Hernia, Congenital diaphragmatic hernia |
ORPHA:280 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Renal hypoplasia/aplasia, Schwannoma, Abnormal renal morphology, Ossifying fibroma, Li... |
ORPHA:363700 |
Poland Syndrome |
|
Aplasia of the pectoralis major muscle, Absence of subcutaneous fat, Congenital diaphragmatic hernia |
ORPHA:2911 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Hydronephrosis |
ORPHA:449400 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis |
ORPHA:314585 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Glossoptosis, Meningocele |
ORPHA:2031 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... |
ORPHA:79139 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Vesicoureteral reflux, Renal cyst, Chronic... |
ORPHA:261494 |
Mandibuloacral Dysplasia |
|
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of the large joint... |
ORPHA:2457 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Long eyelashes, Squamous cell carcinoma of the skin, Hypopigmentation of hair |
ORPHA:79430 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... |
OMIM:301044 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Intrauterine growth retardation, Respiratory failure |
ORPHA:158687 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Umbilical hernia |
ORPHA:93399 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Reduced number of intrahepatic bile ducts, Stomatitis, Intrauterine growth retardat... |
ORPHA:79284 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal dental enamel morphology, Congenital diaphragmatic hernia |
ORPHA:818 |
Argininemia |
|
Postnatal growth retardation, Progressive spastic quadriplegia, Spastic paraparesis, Frequent fal... |
OMIM:207800 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Umbilical hernia, Protruding tongue |
ORPHA:2268 |
Limb Body Wall Complex |
|
Ventral hernia, Diastasis recti, Congenital diaphragmatic hernia |
ORPHA:2369 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral palsy, Ataxia, Abnormal central motor function, Hypertonia, Spastic paraparesis, Spasticity |
ORPHA:760 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Recurrent otitis media, Hydronephrosis |
OMIM:154230 |
Distal Deletion 15Q |
|
Congenital diaphragmatic hernia |
ORPHA:1596 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... |
ORPHA:989 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
Meacham Syndrome |
|
Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Aplasia of the right hemidiaphragm |
OMIM:608978 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Premature birth, Interphalangeal joint contracture of finger, Diastas... |
ORPHA:96334 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hepatoblastoma,... |
OMIM:269150 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Respiratory failure requiring assisted ve... |
ORPHA:273 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Umbilical hernia, Hernia, Congenital diaphragmatic hernia |
ORPHA:2255 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology |
OMIM:221770 |
Joubert Syndrome 21 |
|
Apnea, Splenomegaly, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis |
OMIM:615636 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
C Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
ORPHA:1308 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, Branchial ... |
ORPHA:453499 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Respiratory failure |
ORPHA:3240 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Recurrent urinary tract infections, Hydroureter, Hypospadias... |
ORPHA:84 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:619179 |
Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Elbow flexion contracture, Knee flexion contracture, Distal arthrogryposis, High... |
OMIM:121050 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Dubowitz Syndrome |
|
Hypospadias, Eczema, Lymphoma, Acute lymphoblastic leukemia, Neoplasm, Hydronephrosis |
ORPHA:235 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t... |
ORPHA:137605 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti... |
ORPHA:31204 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Keratitis, Lymphoma, Inflammatory abnormality of the eye, ... |
ORPHA:1896 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98795 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Polycys... |
ORPHA:2237 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Splenom... |
OMIM:269860 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Generalized amyotrophy |
OMIM:601162 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Hepatitis, Malabsorption |
ORPHA:47 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Squamous cell carcinoma of the skin, Nail dystrophy |
ORPHA:79396 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the abdominal wall musculature, Respi... |
ORPHA:646 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Hypospadias, Nephroblastoma, Ependymoma, Abnormality of the ureter, Recu... |
ORPHA:798 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal dental enamel morphology, Congenital diaphragmatic hernia |
ORPHA:2556 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth |
ORPHA:1790 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Inguinal hernia |
ORPHA:221120 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um... |
OMIM:305600 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn... |
ORPHA:2953 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,... |
OMIM:212066 |
Benign Schwannoma |
|
Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnormal parotid gl... |
ORPHA:252164 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia, Everted lower lip ver... |
OMIM:610253 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Contractures of the large joints, Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long philtrum, Smooth phi... |
OMIM:618580 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Peritonitis, Respiratory failure |
ORPHA:679 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Gloss... |
OMIM:277380 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Median cleft lip, Abnormal dental enamel morphology, Accessory ora... |
ORPHA:2750 |
Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615108 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis |
ORPHA:457193 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Erysipelas, Hydronephrosis |
OMIM:235510 |
Cardiofaciocutaneous Syndrome 1 |
|
Hydronephrosis, Atopic dermatitis, Cavernous hemangioma |
OMIM:115150 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Esophagitis |
ORPHA:541423 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Sinusitis, Ureteral stenosis, Pericarditis, Proteinuria, Ski... |
ORPHA:900 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor... |
ORPHA:2754 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Protruding tongue, High, narrow palate, Macrogloss... |
OMIM:214100 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Erythroderma |
ORPHA:35173 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Progressive spastic paraparesis, Progressive spastic quadriplegia, Progressive gait ataxia, Progr... |
ORPHA:329308 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:352665 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Protruding tongue, Gingival overgrowth, Hepatosplenomegaly, Umbilical hernia |
ORPHA:93400 |
Angelman Syndrome |
|
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue |
OMIM:105830 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gray matter heterotopia, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Severe periodontitis, Protruding tongue, Deep philtrum, Gingival overgrowth, Narrow... |
ORPHA:99843 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:157800 |
Trisomy 8P |
|
Fetal pyelectasis, Micropenis, Nephrocalcinosis, Neuroblastoma, Hydronephrosis |
ORPHA:264450 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open bite, Sup... |
ORPHA:1507 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Acute leukemia |
ORPHA:3474 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... |
ORPHA:464738 |
Hurler Syndrome |
|
Death in infancy, Cerebral palsy, Short stature, Camptodactyly of finger, Abnormal pyramidal sign... |
ORPHA:93473 |
Occipital Horn Syndrome |
|
Pelvic bone exostoses, Ureteral obstruction, Bladder carcinoma, Bladder diverticulum, Hydronephro... |
OMIM:304150 |
Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Distal amyotrophy, Tongue fasciculations, Difficulty in tongue movements, Weaknes... |
ORPHA:99949 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Angelman Syndrome Due To A Point Mutation |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:411511 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Wrist flexion contracture, Cleft palate |
ORPHA:436003 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
Cardiofaciocutaneous Syndrome |
|
Hydronephrosis, Cavernous hemangioma |
ORPHA:1340 |
Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Progressive spastic paraparesis, Babinski sign, Weakness of long finger extenso... |
ORPHA:35125 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... |
OMIM:616894 |
Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the... |
OMIM:616300 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hydronephrosis |
OMIM:235255 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Eczema, Hydronephrosis |
OMIM:610443 |
Coffin-Siris Syndrome 1 |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia |
OMIM:135900 |
Myhre Syndrome |
|
Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, Respirato... |
OMIM:139210 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis, Recurrent otitis media, Hepatitis, Chronic hepatitis |
OMIM:614921 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Dental crowding, Narrow palate, High palate, Thick vermilion border, Na... |
OMIM:616078 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Frontorhiny |
|
Encephalocele, Camptodactyly of finger, Cleft palate, Basal encephalocele, Cranium bifidum occult... |
ORPHA:391474 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Aplasia of the left hemidiaphragm |
OMIM:620025 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Hemiparesis, Spastic paraparesis, Lower limb muscle weakness, Uppe... |
ORPHA:395 |
Witteveen-Kolk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint... |
OMIM:613406 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Infectious en... |
ORPHA:847 |
Joubert Syndrome 1 |
|
Protruding tongue, Occipital myelomeningocele, Macroglossia, Hepatic fibrosis, Triangular-shaped ... |
OMIM:213300 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micropenis, Abnormal renal morphology, Hydronephrosis |
ORPHA:1655 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618280 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Distal amyotrophy, Scapular winging, Optic atrophy |
OMIM:614298 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis |
OMIM:617913 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis |
OMIM:301040 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydronephrosis, Micropenis, Hypospadias, Capillary hemangioma |
ORPHA:163979 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Progressive spastic paraparesis, Frequent falls, Distal lower limb ... |
ORPHA:79093 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Pneumonia, Pilomatrixoma, Spinal cord tumor, Nep... |
ORPHA:353281 |
Sarcoidosis |
|
Hepatomegaly, Facial palsy, Portal hypertension, Abnormal liver parenchyma morphology, Enlargemen... |
ORPHA:797 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Fetal pyelectasis, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Eczema, Testicular neoplasm, Fetal pyelectasis, ... |
ORPHA:363958 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Raine Syndrome |
|
Natal tooth, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, High palate, Neona... |
OMIM:259775 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Erythroderma |
OMIM:302960 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Narrow mouth |
ORPHA:990 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia |
OMIM:601374 |
Ritscher-Schinzel Syndrome 2 |
|
Camptodactyly of finger, Intestinal malrotation, Protruding tongue, High palate, Short philtrum, ... |
OMIM:300963 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smooth philtrum |
OMIM:617804 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Ectopic kidney, Pituitary adenoma, Polycystic kidney dysplasia, Ves... |
ORPHA:96149 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Inguinal hernia, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Macroglossia... |
OMIM:312870 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Acute lymphoblastic leukemia, Duplicated collecting system, Ureteropelvic junction obstruction, H... |
OMIM:280000 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Action tremor, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochok... |
ORPHA:309854 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Intrauterine growth ... |
ORPHA:2554 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Bloom Syndrome |
|
Pneumonia, Chronic pulmonary obstruction, Respiratory failure, Rhinitis, Intrauterine growth reta... |
ORPHA:125 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Eczema, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephr... |
ORPHA:464306 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Spastic tetraplegia, Growth delay, Distal amyotrophy, Myoclonus, Spastic par... |
OMIM:609136 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Ring Chromosome 22 Syndrome |
|
Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop... |
OMIM:619525 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:199 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue |
ORPHA:96147 |
Agel Amyloidosis |
|
Tongue atrophy, Abnormal spleen morphology, Xerostomia, Facial palsy |
ORPHA:85448 |
Cartilage-Hair Hypoplasia |
|
Abnormality of chromosome stability, Mucopolysacchariduria |
ORPHA:175 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Hydronephrosis |
ORPHA:35687 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,... |
OMIM:263520 |
Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Hydronephrosis |
ORPHA:100078 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Long philtrum |
ORPHA:1051 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Camptodactyly of finger, Myelomeningocele, Pierre-Robin sequence, Cleft palate, Gl... |
ORPHA:90652 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Eczema, Unilateral... |
OMIM:270400 |
Tetrasomy 9P |
|
Renal dysplasia, Myositis, Recurrent urinary tract infections, Pericarditis, Pilomatrixoma, Horse... |
ORPHA:3310 |
Sotos Syndrome |
|
Ureteropelvic junction obstruction, Sacrococcygeal teratoma, Ureteral duplication, Astrocytoma, H... |
ORPHA:821 |
Costello Syndrome |
|
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Macroglos... |
OMIM:218040 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Cleft palate, Knee flexion contracture, Downturned corners of mouth, Intrauterin... |
ORPHA:488642 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:98794 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
Scheie Syndrome |
|
Cerebral palsy, Spastic paraparesis |
ORPHA:93474 |
Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic gastritis, Biliary hyperplasia, Intrahepatic... |
OMIM:619991 |
Fryns Syndrome |
|
Aplasia of the left hemidiaphragm, Joint contracture of the hand, Omphalocele, Camptodactyly |
OMIM:229850 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Ataxia, Camptodactyly of finger, Short hallux, Aplasia/Hypopla... |
ORPHA:2710 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Meckel Syndrome |
|
Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,... |
ORPHA:564 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ankyloglossia |
OMIM:602361 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Bilateral camptodactyly, Elbow flexion contracture... |
OMIM:619777 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Cerebrocostomandibular Syndrome |
|
Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosis, Hydranencephaly, Intraut... |
ORPHA:1393 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... |
ORPHA:90324 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Branchial fistula, Camptodactyly of finger, High, narrow palate, Pylori... |
ORPHA:261330 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Downturned corners of m... |
OMIM:619297 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Geographic tongue, Cheilitis |
ORPHA:247353 |
Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... |
ORPHA:3107 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Panniculitis, Otitis media... |
OMIM:612541 |
White-Kernohan Syndrome |
|
Recurrent otitis media, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Proximal amyotrophy, Neoplasm of the liver, Th... |
ORPHA:653 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Narrow mouth, Pierre-Robin sequence, Cleft palate, Glossoptosis, Umbilical herni... |
OMIM:616145 |
Apert Syndrome |
|
Chronic otitis media, Acne, Hydronephrosis |
OMIM:101200 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Tarp Syndrome |
|
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Periodontitis, Hydronephrosis |
OMIM:619269 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,... |
OMIM:129900 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Short stature, Extrapyramidal muscular rigidity, Tremor, H... |
ORPHA:51 |
Say-Barber-Miller Syndrome |
|
Short stature, Babinski sign, Elbow flexion contracture, Patellar hypoplasia, Knee flexion contra... |
ORPHA:3132 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Neuroblastoma, Hydronephrosis |
ORPHA:506358 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic hemangioma, Capillary hem... |
OMIM:180849 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Optic nerve hypoplasia, Optic atrophy, Simplified gyral pattern, Respiratory ... |
ORPHA:500150 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Carious teeth, Elbow flexion contracture, Knee flexion contracture, Thin vermilion b... |
OMIM:601559 |
Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis |
ORPHA:210122 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue, Limb hypertonia |
OMIM:619580 |
Microsporidiosis |
|
Myositis, Cholangitis, Abnormality of the spleen, Peritonitis, Biliary tract abnormality, Hepatit... |
ORPHA:2552 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Neuroblastoma, Hydroneph... |
ORPHA:1606 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Macrogyria, Anteriorly plac... |
OMIM:602535 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Intrahepatic cholestasis, Extrahe... |
ORPHA:97280 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ... |
OMIM:619950 |
Adrenomyeloneuropathy |
|
Progressive spastic paraparesis, Babinski sign, Leg muscle stiffness, Spasticity, Distal lower li... |
ORPHA:139399 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:300712 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Hamartoma of tongue, Periventricular heterotopia, Cleft lip... |
OMIM:615948 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... |
ORPHA:2785 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Pilomatrix... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Pneumonia, Pilomatrix... |
ORPHA:353277 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Protruding tongue, Periventricular heterotopia, Hypoplasia of the abdom... |
OMIM:612289 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Giant Cell Arteritis |
|
Hepatic failure, Glossitis |
ORPHA:397 |
Eales Disease |
|
Spastic paraparesis |
ORPHA:40923 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Intrauterine growth retardation, ... |
OMIM:616975 |
Monosomy 22Q13.3 |
|
Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal... |
ORPHA:48652 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Furrowed tongue |
OMIM:158310 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Facial palsy, Carious teeth, High, narrow palate, Thick lower lip vermi... |
OMIM:615873 |
Angelman Syndrome |
|
Wide mouth, Widely spaced teeth, Protruding tongue |
ORPHA:72 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Protruding tongue, Simplified gyral pattern, High palate, Umbilical her... |
OMIM:617062 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Aplasia of the right hemidiaphragm, Limb hypertonia |
OMIM:619841 |
Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Eczema |
ORPHA:2308 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Conjunctivitis, Recurrent otitis media, Chronic otitis media,... |
OMIM:616268 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Facial palsy, Carious teeth, Downturned co... |
OMIM:620186 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Elbow flexion contracture, Cleft palate, Knee flexion contracture, ... |
OMIM:151050 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft pal... |
ORPHA:828 |
Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Spina bifida, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:304120 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Stomatitis, Intrauterine growth retardation, Glossitis, Smooth philtrum |
ORPHA:79282 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz... |
ORPHA:2273 |
Melnick-Needles Syndrome |
|
Recurrent otitis media, Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia,... |
OMIM:601803 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
Biotinidase Deficiency |
|
Limb muscle weakness, Ataxia, Spastic paraparesis |
ORPHA:79241 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Multiple joint contractures, Impaired ne... |
ORPHA:79318 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Abnormality of the dentition, Flexion contracture, Elbow flexion contrac... |
ORPHA:3206 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis |
OMIM:265380 |
Degcags Syndrome |
|
Hepatomegaly, Jejunal atresia, Protruding tongue, Hiatus hernia, Pyloric stenosis, Cholestasis, H... |
OMIM:619488 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Atopic dermatitis, Nephrocalcinosis, Congenital posterior ure... |
OMIM:136140 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:2636 |
Kawasaki Disease |
|
Jaundice, Cheilitis, Hepatitis, Cholecystitis, Glossitis |
ORPHA:2331 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Miscarriage, Dyspnea, Hemothorax, Hypoxemia, Restrictive ventil... |
OMIM:187300 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Micropeni... |
ORPHA:83617 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Recurrent skin infections, Hydronephrosis |
OMIM:601776 |
Achondrogenesis, Type Ia |
|
Stillbirth, Protruding tongue |
OMIM:200600 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L... |
ORPHA:444077 |
Campomelic Dysplasia |
|
Hypospadias, Hydronephrosis |
OMIM:114290 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Thin upper lip vermilion, Torticollis, High, narrow palate, Jaundi... |
OMIM:619475 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Charge Syndrome |
|
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney |
ORPHA:138 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Neoplasm, Renal dysplasia |
ORPHA:480880 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Lacrimoauriculodentodigital Syndrome |
|
Renal hypoplasia, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Vesicoureteral ref... |
ORPHA:2363 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Rec... |
OMIM:188400 |
Alström Syndrome |
|
Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ... |
ORPHA:64 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... |
ORPHA:3472 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... |
OMIM:309580 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Micropenis, Recurrent otitis media, Ureteropelvic junction obstructi... |
OMIM:147920 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Recurrent skin infections, Hypospadias, Wide penis, Synovitis... |
ORPHA:3455 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protruding tongue |
ORPHA:50945 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Peroneal muscle atro... |
ORPHA:2388 |
Microphthalmia, Syndromic 2 |
|
Broad hallux, Sandal gap, Short stature, 2-3 toe cutaneous syndactyly, Flexion contracture, 2-3 t... |
OMIM:300166 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax, Severe intrauterine growth retardation |
ORPHA:3404 |
Fraser Syndrome |
|
Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial cleft, Ectopic an... |
ORPHA:2052 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology |
ORPHA:100070 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Aspiration pneumonia |
ORPHA:438213 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Recurrent pneumonia, Eczema |
OMIM:620330 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... |
OMIM:619534 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Chronic gastritis, Eczema, Atopic dermatitis, Hydroneph... |
OMIM:619472 |
Neuroocular Syndrome |
|
Scapular winging, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely s... |
OMIM:619539 |
Charge Syndrome |
|
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis |
OMIM:214800 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Spontaneous, recurrent epistaxis, Dyspnea, Spinal arteriovenous malformation, Cirrhosis, Pulmonar... |
OMIM:600376 |
Peters-Plus Syndrome |
|
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Enter... |
ORPHA:2152 |
Plague |
|
Hepatomegaly, Chapped lip, Splenomegaly, Enterocolitis, Inflammation of the large intestine, Glos... |
ORPHA:707 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Epistaxis |
OMIM:175050 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Recurrent otitis media,... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... |
ORPHA:261552 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Pallister-Hall Syndrome |
|
Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogryposis, Umbilical h... |
ORPHA:672 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Epistaxis, Extrahepatic portal hypert... |
ORPHA:2929 |
Johanson-Blizzard Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula |
OMIM:243800 |
Microphthalmia, Syndromic 6 |
|
Microglossia, High palate, Bifid uvula, Cleft palate |
OMIM:607932 |
Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia |
OMIM:607278 |
Deafness, Autosomal Recessive 97 |
|
|
OMIM:616705 |