Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o... |
ORPHA:2669 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Testicular Germ Cell Tumor |
|
Choriocarcinoma, Teratoma, Embryonal neoplasm |
OMIM:273300 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Gonadoblastoma |
|
Gonadoblastoma |
OMIM:424500 |
Testicular Germ Cell Tumor 1 |
|
Germ cell neoplasia |
OMIM:300228 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Abnormality of the kidney |
OMIM:615988 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Gestational Choriocarcinoma |
|
Choriocarcinoma, Trophoblastic tumor, Neoplasm |
ORPHA:99926 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
Teratoma, Pineal |
|
Teratoma, Polyuria |
OMIM:273120 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger |
OMIM:176305 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Triphalangea... |
ORPHA:2091 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hepatoblastoma, ... |
OMIM:269150 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Brachydactyly |
OMIM:615982 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Ren... |
OMIM:615993 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Mesoaxial hand polydactyly, Postaxial polydactyly, Renal hypoplasia, Postaxi... |
OMIM:615996 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Orofaciodigital Syndrome Xv |
|
Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux |
OMIM:617127 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Hodgkin lymphoma, Breast carcinoma, Ova... |
ORPHA:157798 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... |
OMIM:617927 |
Schinzel-Giedion Syndrome |
|
Renal cyst, Tibial bowing, Hepatoblastoma, Micropenis, Myeloid leukemia, Hypospadias, Ependymoma,... |
ORPHA:798 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Postaxial polydactyly |
OMIM:213010 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ... |
OMIM:602418 |
Macdermot-Winter Syndrome |
|
Hydronephrosis, Camptodactyly of finger |
OMIM:247990 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Hydronephrosis, Micromelia |
ORPHA:85173 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Hydronephrosis, Exostoses |
ORPHA:251076 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic... |
OMIM:613390 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Holzgreve Syndrome |
|
Hand polydactyly, Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp... |
ORPHA:2496 |
Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
Proteus Syndrome |
|
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex |
OMIM:176920 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Currarino Syndrome |
|
Vesicoureteral reflux, Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias |
ORPHA:1552 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
Cat-Eye Syndrome |
|
Hip dysplasia, Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:613819 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Hydronephrosis |
ORPHA:251046 |
Joubert Syndrome 16 |
|
Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Talipes ca... |
ORPHA:573278 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Renal dysplasia, Postaxial polydactyly |
OMIM:615985 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Aicardi Syndrome |
|
Proximal placement of thumb, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma... |
OMIM:304050 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... |
OMIM:615994 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Renal agenesis, Foot polydactyly |
ORPHA:2155 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger... |
OMIM:619218 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Nephroblastoma, Polydactyly, Leukemia, Meningioma |
OMIM:602501 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Joubert Syndrome 17 |
|
Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Hamartoma, Polydactyly |
OMIM:300484 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Osteopetrosis |
OMIM:611490 |
Duplication Of The Pituitary Gland |
|
Teratoma |
ORPHA:314621 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Genu varum, Ap... |
OMIM:201000 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hip contracture, Elbow flexion contracture, Hydronephrosis |
ORPHA:85285 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Desmoid Tumor |
|
Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of the skin, Fibroma, Hydronephr... |
ORPHA:873 |
Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... |
OMIM:114150 |
Czeizel-Losonci Syndrome |
|
Hitchhiker thumb, Single transverse palmar crease, 2-3 finger syndactyly, Clubbing of toes, Urete... |
ORPHA:2437 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal cyst, Horseshoe kidney, Ta... |
OMIM:614815 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim... |
OMIM:607323 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of t... |
OMIM:613091 |
Joubert Syndrome 27 |
|
Dilatation of the renal pelvis, Polydactyly |
OMIM:617120 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis, Hyperextensibility of the finger joints, Congenital hip dislocation, Dislocation ... |
OMIM:619797 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... |
OMIM:614091 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Hand polydactyly, Foot polydactyly, S... |
OMIM:258860 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... |
ORPHA:2473 |
Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Nevus Comedonicus Syndrome |
|
Hamartoma, Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, P... |
OMIM:618142 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Congenital posterior urethral valve, Talipes equinovarus... |
OMIM:100100 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology |
ORPHA:3344 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hypospadias |
ORPHA:141333 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neutrophil nuclei, Giant platel... |
OMIM:169400 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k... |
OMIM:613885 |
Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... |
OMIM:611560 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Rhizomelia, Single transverse palmar crease, Hypospadias, Hemolytic-uremic s... |
OMIM:611209 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... |
OMIM:614175 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot po... |
OMIM:146510 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Single transverse palmar crease... |
OMIM:618161 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Slender long bone, Hydronephrosis, Brachydactyly |
OMIM:618265 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Nephronophthisis |
OMIM:614464 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epiphyses of the phalanges of ... |
ORPHA:2484 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Rocker bottom foot, Coxa valga, Postaxial hand polydac... |
OMIM:301056 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, 4-5 toe syndactyly, Humeroradial synostosis... |
OMIM:260660 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy... |
OMIM:314390 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Limited mobility of ... |
OMIM:222300 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Scapular winging, Bowing of the long bones, Arachnodactyly, Interphalangeal jo... |
OMIM:305620 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Toe syndactyly, Abnormality of the kidney, Short middle pha... |
ORPHA:391641 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Tetraploidy |
|
Radial club hand, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Lym... |
ORPHA:1225 |
Trisomy 13 |
|
Postaxial hand polydactyly, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Ec... |
ORPHA:3378 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Polydactyly, Clinodactyly, Hydronephrosis, Brachydactyly |
OMIM:618950 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Clinodactyly |
OMIM:607131 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Recombinant Chromosome 8 Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Hydronephrosis, Camptodactyly |
OMIM:179613 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... |
OMIM:612301 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Hydronephrosis, Horseshoe kidney, Camptodactyly |
OMIM:614846 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Prominent fingertip ... |
OMIM:618494 |
Zaki Syndrome |
|
Toe syndactyly, Renal agenesis, Long fingers, Ectrodactyly, Broad distal phalanx of finger, Hypop... |
OMIM:619648 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Vacterl/Vater Association |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis... |
ORPHA:887 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:264700 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Bilateral single transverse palmar creases, Camptodactyly of finger, Hydrone... |
ORPHA:2083 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly, Hydronephrosis |
ORPHA:531151 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Flared metaphysis, Limb u... |
OMIM:616897 |
Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis, Postaxial polydactyly |
OMIM:619185 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Bilateral talipes equinovarus, Broad distal phala... |
OMIM:609465 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Abnormality of the kidney |
OMIM:613464 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Distal Triplication 15Q |
|
Arachnodactyly, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Poly... |
ORPHA:314588 |
Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... |
OMIM:600383 |
Meckel Syndrome, Type 2 |
|
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly, Renal cyst |
OMIM:603194 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t... |
ORPHA:137605 |
Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... |
ORPHA:90652 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha... |
OMIM:277170 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidney, Tapered finger, Abn... |
DECIPHER:81 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney, Tapered finger |
ORPHA:1920 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... |
OMIM:259700 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Postaxial hand p... |
OMIM:236700 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial h... |
ORPHA:261344 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocated r... |
OMIM:268310 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... |
ORPHA:1834 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Abnormal palmar dermatoglyphics,... |
ORPHA:2092 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... |
ORPHA:480536 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis |
OMIM:620141 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin... |
ORPHA:314585 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Vesicoureteral reflux, Short foot, Hydronephrosis, Hand pol... |
ORPHA:250989 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Postaxial polydactyly, Tubular luminal dilatation, Renal corticomedullary cy... |
OMIM:219730 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sandal gap, Glioma, Rhabdomyosar... |
OMIM:251260 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Short 5th finger, Polydactyly, Ectrodactyly, Microphallus, Clinodactyly ... |
ORPHA:397590 |
3C Syndrome |
|
Finger syndactyly, Brachydactyly, Hypoplasia of penis, Hypospadias, Hand polydactyly, Abnormal hi... |
ORPHA:7 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, A... |
ORPHA:568 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Tapered finger, Urethral stenosis, Polycystic kidney dysplas... |
ORPHA:261290 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Hydronephrosis |
OMIM:220210 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Toe syndactyly, Hydroureter, Single transverse palmar crease, 4-5 toe ... |
OMIM:300707 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Deviation of the 5... |
OMIM:616362 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Long-chain dic... |
OMIM:608836 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Hepatosplenomegaly |
OMIM:618955 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Single transverse palmar crease, Intermittent thrombocytopeni... |
OMIM:612541 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... |
ORPHA:2750 |
Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ureteral stenosis, Single transverse palmar crease, Rock... |
OMIM:272950 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Patellar aplasia, Radioulnar syn... |
ORPHA:85201 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Hypospadias, Abnormality of thumb ph... |
ORPHA:235 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Hemangioma, Hydronephrosis |
ORPHA:1297 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... |
OMIM:616737 |
Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f... |
ORPHA:2886 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Hypospadias, Deviation of th... |
ORPHA:464738 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, ... |
ORPHA:99776 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Gonadoblastoma, Nephropathy, Nephroblastoma |
OMIM:194072 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoure... |
OMIM:618460 |
Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Preaxial hand... |
ORPHA:261318 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Neoplasm, Hepatoblastoma, ... |
ORPHA:373 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Thrombocytope... |
ORPHA:163979 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology |
OMIM:614886 |
Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Renal hypoplasia, Hand clenc... |
OMIM:618975 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Micropenis, Joint c... |
OMIM:612513 |
Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys... |
OMIM:101200 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Hypoplastic iliac wing, Small hand, Horseshoe kidney, Short foot, Cutaneous finge... |
OMIM:235510 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Renal hypoplasia/aplasia,... |
ORPHA:2754 |
Campomelic Dysplasia |
|
Bowing of the long bones, Small abnormally formed scapulae, Hip dislocation, Fibular hypoplasia, ... |
ORPHA:140 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Coxa valga, Tapered finger, Reduced alpha/beta synthesis ratio, Hypo... |
OMIM:301040 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme... |
ORPHA:1896 |
Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
Currarino Syndrome |
|
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Perianal abscess, P... |
OMIM:176450 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... |
ORPHA:2796 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
OMIM:259600 |
Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Down-sloping shoulders, Palmar ... |
OMIM:109400 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Cubitus valgus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of finger, Talipes... |
ORPHA:1358 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hydronephrosis, H... |
OMIM:300968 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I... |
ORPHA:2909 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
Dent Disease |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Abnormal renal morphology, Overlapping toe, Postaxial polydactyly, Tapered finger |
OMIM:613792 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Arachnodac... |
ORPHA:2461 |
Melnick-Needles Syndrome |
|
Short humerus, Hypoplastic scapulae, Ureteral stenosis, Coxa valga, Flared metaphysis, Hip disloc... |
OMIM:309350 |
Intellectual Disability, Buenos-Aires Type |
|
Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Hydronephrosis |
ORPHA:3079 |
Rhombencephalosynapsis |
|
Finger syndactyly, Abnormal renal morphology, Polydactyly, Complete duplication of thumb phalanx,... |
ORPHA:59315 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Dysuria, Abnormality of the hand, Abnormal thumb morphology, Abnormal hand morphology, Genu valgu... |
ORPHA:101000 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Single transverse palmar crease, Camptodactyly, Flexion contracture of... |
ORPHA:254528 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Postaxial polydactyly, Unilateral renal agenesis, Splenomegaly, Hip dysplasia, Prox... |
OMIM:614576 |
Chime Syndrome |
|
Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Arachnodactyly, Hypospadias, Hip dislocation, Vesicoureteral reflux, Hydron... |
ORPHA:96169 |
Vater/Vacterl Association |
|
Renal dysplasia, Syndactyly, Hypospadias, Renal agenesis, Ectopic kidney, Absent radius, Short th... |
OMIM:192350 |
Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... |
ORPHA:3206 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus add... |
ORPHA:261349 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithel... |
ORPHA:49041 |
Noonan Syndrome 4 |
|
Cubitus valgus, Ureteral duplication, Hydronephrosis, Thrombocytopenia |
OMIM:610733 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Encephalocraniocutaneous Lipomatosis |
|
Astrocytoma, Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydronephrosis, Subc... |
OMIM:613001 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Hypospadias, Single transverse palmar crease, Rocker bottom foot, Me... |
OMIM:214100 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Hydronephrosis |
ORPHA:449400 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Micromelia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... |
ORPHA:2636 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... |
ORPHA:249 |
Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Polydactyly |
OMIM:616562 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra... |
OMIM:304120 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ... |
ORPHA:847 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip... |
ORPHA:35173 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal agenesis, Renal cyst... |
ORPHA:464306 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hepatosplenomegaly, Hydronephrosis, Drumstick terminal phalanges |
ORPHA:541423 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Mo... |
OMIM:619269 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi... |
ORPHA:221016 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Patellar aplasia, Vesicoureteral reflux, Narrow pelvis bone, Deep palmar... |
ORPHA:96061 |
Occipital Horn Syndrome |
|
Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Bladder carcinoma, Genu... |
OMIM:304150 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Neutropen... |
ORPHA:221008 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Long fingers, Hip dislocation, Abnormality of the urinary system, Clin... |
ORPHA:96092 |
Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... |
OMIM:614099 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Hip dislocation, Hyposthenuria, Vesicoureteral reflux, Hydronephrosis |
OMIM:615926 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Facial capillary hemangioma, Finger syndactyly,... |
ORPHA:818 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Joint stiffness |
OMIM:230600 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Small hand, Short foot, Short palm, Clinodactyly of the 5th finger, Narrow iliac win... |
OMIM:300712 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib... |
OMIM:114290 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hydronephrosis, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly |
OMIM:616449 |
Distal Deletion 12Q |
|
Broad hallux, Single transverse palmar crease, Overlapping toe, Ectopic kidney, Pituitary adenoma... |
ORPHA:96149 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Facial capillary hemangioma, Proximal placement of thumb, 2-3 toe cutaneous syndactyl... |
OMIM:270400 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Tapered finger, Slender finger, Functional abnormality of the bladder, ... |
ORPHA:2953 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Postaxial hand polydactyly, Abnormal renal morphology, Hepatosplenomegaly, Micropen... |
ORPHA:1655 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis, Brachydactyly |
ORPHA:457193 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Squared iliac bones, Preaxial polydactyly... |
OMIM:616300 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Long fingers, Finger joint hypermobility, Ureteropelvic junction obstr... |
OMIM:617557 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Vesicoureteral... |
OMIM:614080 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Postaxial hand polydactyly, Hydronephrosis, Micropenis |
OMIM:235255 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... |
OMIM:613848 |
Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hypotrophy of the small hand muscles, Narrow palm, Hip disloc... |
OMIM:610443 |
Sotos Syndrome |
|
Ureteral duplication, Astrocytoma, Neoplasm, Vesicoureteral reflux, Hypospadias, Abnormality of t... |
ORPHA:821 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Talipes equinovarus, Vesicoure... |
ORPHA:261494 |
Familial Osteodysplasia, Anderson Type |
|
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures |
ORPHA:2769 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Splenomegaly, Renal hypoplasia, Nephrocalcinosi... |
OMIM:617913 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Chronic kidney disease, Dilatation of the ren... |
OMIM:616580 |
Stromme Syndrome |
|
Accessory spleen, Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis |
OMIM:243605 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Overlapping toe, Tapered finger, 2-3 toe syndactyly, Vesicoureteral reflux, Micropenis, Pelvic ki... |
OMIM:618653 |
Zellweger Syndrome |
|
Epiphyseal stippling, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Palmar pits, Medulloblasto... |
ORPHA:77301 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Clinodactyly, Hip dysplasia, Hydronephrosis, Shortening of all distal phalanges of the fingers |
ORPHA:247262 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Orofaciodigital Syndrome V |
|
Sandal gap, Hamartoma of tongue, Postaxial polydactyly, Postaxial hand polydactyly, Horseshoe kid... |
OMIM:174300 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Broad 2nd toe, Palmoplantar hyp... |
OMIM:280000 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis, Anemia |
ORPHA:2315 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Tapered finger, Short toe, Renal cyst, Short foot, Pelvic... |
ORPHA:464311 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Renal duplication, ... |
OMIM:180700 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Splenomegaly, Overlapping fingers, Hydronephrosis, Adducted thumb |
OMIM:608779 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Short toe,... |
ORPHA:2308 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal dysplasia, Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Postaxial poly... |
ORPHA:397715 |
Floating-Harbor Syndrome |
|
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Short middle pha... |
OMIM:136140 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oli... |
OMIM:305600 |
3Mc Syndrome 3 |
|
Preaxial polydactyly, Horseshoe kidney, Micropenis, Radioulnar synostosis, Clinodactyly, Penoscro... |
OMIM:248340 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Proportionate shortening of all digits, Tapered finger, Small hand, Hypertrophy of t... |
ORPHA:280633 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split... |
OMIM:604292 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic heman... |
OMIM:180849 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux, Clinodactyly of the 5th finger,... |
ORPHA:2059 |
Trisomy 18 |
|
Camptodactyly of finger, Abnormality of the upper urinary tract, Postaxial hand polydactyly, Devi... |
ORPHA:3380 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Increased mean platele... |
ORPHA:487796 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Hypospadias, Renal agenesis, Avascular necrosis of the capital f... |
ORPHA:2044 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Short femur, Hydronephrosis, Genu valgum |
OMIM:617798 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... |
OMIM:603671 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Splenomegaly, Cavernous hemangioma, Deep palmar crease, ... |
OMIM:115150 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Short foot, Mi... |
OMIM:618454 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Single transverse palmar crease, Proximal placement of thumb, ... |
OMIM:229850 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Renal cyst, Narrow greater sciatic notch, Short palm, Hepatoblastoma, Hypospadias, Short greater ... |
OMIM:312870 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Multilobulated spleen, Renal hypoplasia, Horseshoe kidney, Hypoplastic spleen,... |
OMIM:601186 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
3Mc Syndrome 1 |
|
Single interphalangeal crease of fifth finger, Short foot, Radioulnar synostosis, Short 5th finge... |
OMIM:257920 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... |
OMIM:209900 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydac... |
ORPHA:404440 |
Pseudoaminopterin Syndrome |
|
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia... |
ORPHA:221120 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Renal hypoplasia/aplasia, Abnormal tibia morphology, Schwannoma, Abnormal renal morphology, Ossif... |
ORPHA:363700 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Preaxial foot... |
OMIM:619471 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ulnar deviation of the hand, Rhizomelia, Ureteral hypoplasia, Flared m... |
ORPHA:79328 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex |
OMIM:309583 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
Cardiofaciocutaneous Syndrome |
|
Abnormal morphology of ulna, Cavernous hemangioma, Genu valgum, Deep palmar crease, Palmoplantar ... |
ORPHA:1340 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Hydr... |
ORPHA:35687 |
Oculodentodigital Dysplasia |
|
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger |
ORPHA:2710 |
Raine Syndrome |
|
Bowing of the long bones, Hydroureter, Micromelia, Long hallux, Hydronephrosis, Brachydactyly |
OMIM:259775 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Toe syndactyly, Hydroureter, Renal agenesis, Split... |
OMIM:129900 |
Oeis Complex |
|
Duplicated collecting system, Congenital hip dislocation, Hydroureter, Renal agenesis, Epispadias... |
OMIM:258040 |
Cat Eye Syndrome |
|
Renal agenesis, Absent radius, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
OMIM:115470 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Broad toe, Hypospadias, Single transverse palmar crease, Urinary incontinence... |
OMIM:619522 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hamartoma of tongue, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, ... |
OMIM:616546 |
Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urinary tract |
ORPHA:2995 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Abnormality of the kidney, Hepatosplenomegaly |
ORPHA:93400 |
Robinow Syndrome |
|
Syndactyly, Brachydactyly, Multicystic kidney dysplasia, Bifid distal phalanx of the thumb, Mesom... |
ORPHA:97360 |
Cerebellar-Facial-Dental Syndrome |
|
Single transverse palmar crease, Tapered finger, Slender long bone, Ureteropelvic junction obstru... |
ORPHA:444072 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness |
OMIM:277600 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Tapered finger, Narrow palm, Hand clenching, Ureteropelvic junction obstructi... |
OMIM:616973 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Proximal renal tubular acidosis, Nephrolithiasis, Anemia, Leukopenia, Renal tubular... |
ORPHA:2785 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Deep palmar crease, Polydactyly, Pelvic kidney, Camptodactyly, C... |
OMIM:247200 |
Orofaciodigital Syndrome I |
|
Syndactyly, Proteinuria, Hamartoma of tongue, Short 2nd toe, Polydactyly, Radial deviation of fin... |
OMIM:311200 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Broad hallux, Single transverse palmar crease, Sandal gap, Ur... |
ORPHA:404448 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Recurrent urinary tract infections, Arachno... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Anomaly of lower limb diaphyses, Recurrent urinary tract infections, Arachno... |
ORPHA:363958 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Horseshoe kidney, Cone-shaped ep... |
OMIM:617088 |
Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Fibular hypoplasi... |
OMIM:619297 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Single transverse palmar crease, Unilateral renal agenesis, Long fingers, Enuresis, ... |
ORPHA:96121 |
Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Overlapping fingers... |
OMIM:300960 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Recurrent urinary tract infections, Broad hallux, Deviation of the hallux, Hypospadia... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Recurrent urinary tract infections, Broad hallux, Deviation of the hallux, Hypospadia... |
ORPHA:353277 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Aplasia/Hypoplasia of the phalanges of the 2nd... |
ORPHA:79500 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Contr... |
ORPHA:83617 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... |
OMIM:610682 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Broad hallux, Hypospadias, Avascular necrosis of the capital ... |
ORPHA:353281 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Sandal gap, Single transverse palmar crease, Hypoplasia of the thymus, Multiple... |
OMIM:613177 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Syndactyly, Bowing of the long bones, Hypoplasia of the bladder, Renal agenesis... |
OMIM:249000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Arboleda-Tham Syndrome |
|
Brachydactyly, Recurrent urinary tract infections, Sandal gap, Deviation of the hallux, Short hal... |
OMIM:616268 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Sandal gap, Single transverse palmar crease, Hypospadias, Aplasia/Hypoplasia of the ... |
OMIM:135900 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Preaxial hand polydactyly, Abnormal pelv... |
ORPHA:93271 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Hip dysplasia, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication... |
OMIM:236680 |
Joubert Syndrome 14 |
|
Renal cyst, Postaxial polydactyly |
OMIM:614424 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Syndactyly, Hypospadias, Congenit... |
OMIM:619488 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Abnormality... |
ORPHA:1606 |
Spondyloocular Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:605822 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Micropenis, Mesoaxial polydactyly, Radial bowing, Hypospadias, Midline facial cap... |
ORPHA:672 |
Culler-Jones Syndrome |
|
Micropenis, Postaxial polydactyly |
OMIM:615849 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Renal dysplasia, Congenital hip dislocation, Overlapping toe, Postaxial polydactyl... |
ORPHA:480880 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Hamartoma of tongue, Preaxial polydactyly, Hypoplastic pubic bone, Fibular... |
OMIM:617925 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Hypoplastic scapulae, Pilomatrixoma, Small h... |
ORPHA:3310 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly |
OMIM:249420 |
White-Kernohan Syndrome |
|
Hip dysplasia, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Broad hallux, Sandal gap, Tapered finger, Small hand, Genu va... |
OMIM:615873 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly |
OMIM:603387 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re... |
ORPHA:90324 |
Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Splenomegaly, Postaxial hand polydactyly, Renal cyst... |
OMIM:613610 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Postaxial polydactyly, Hip dysplasia, Talipes equinovarus, Vesicoureteral reflux, Hydronephrosis |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Postaxial polydactyly, Hip dysplasia, Talipes equinovarus, Vesicoureteral reflux, Hydronephrosis |
ORPHA:352665 |
Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Hypospadias, Methylmalonic aciduria, 3-Methylglutaconic aciduria, Pol... |
ORPHA:17 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Osteopetrosis, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Hydronephrosis |
ORPHA:210122 |
Peters-Plus Syndrome |
|
Syndactyly, Short metacarpal, Ureteral duplication, Rhizomelia, Single transverse palmar crease, ... |
OMIM:261540 |
Gabriele-De Vries Syndrome |
|
Hallux valgus, Ureteropelvic junction obstruction, Sydney crease, Sandal gap, Finger joint hyperm... |
ORPHA:506358 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness |
OMIM:608328 |
Osteogenesis Imperfecta |
|
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... |
ORPHA:666 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Granulomatosis, H... |
ORPHA:900 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Recurrent urinary tract infections, Hypospadias, Unilateral renal agenesis, Tapere... |
ORPHA:268261 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Small intestine carcinoid, Hydronephrosis |
ORPHA:100078 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Patellar aplasia, Infe... |
OMIM:606170 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Perineal hypospadias, Germ cell neoplasia, Micropenis, Urogenital sinus anomaly |
ORPHA:90797 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Renal agenesis, Absent radius, Short thumb, Partial duplica... |
OMIM:149730 |
Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Coxa v... |
OMIM:614976 |
Charge Syndrome |
|
Hypoplasia of the ulna, Renal agenesis, Abnormal palmar dermatoglyphics, Down-sloping shoulders, ... |
OMIM:214800 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Renal duplication... |
ORPHA:709 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... |
OMIM:617527 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Vesicoureteral reflux, Large hands, Clinodactyly of the 5th finger, Recurrent py... |
ORPHA:48652 |
Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex |
OMIM:613658 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis |
ORPHA:2745 |
Complete Androgen Insensitivity Syndrome |
|
Testicular neoplasm, Germ cell neoplasia |
ORPHA:99429 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Clinodactyly of th... |
ORPHA:457284 |
Okamoto Syndrome |
|
Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Hip dysplasia, Polydactyly, Uret... |
ORPHA:2729 |
Kabuki Syndrome 1 |
|
Ureteropelvic junction obstruction, Hemolytic anemia, Crossed fused renal ectopia, Congenital hip... |
OMIM:147920 |
Charge Syndrome |
|
Abnormal tibia morphology, Vesicoureteral reflux, Bifid femur, Horseshoe kidney, Clinodactyly of ... |
ORPHA:138 |
Rabson-Mendenhall Syndrome |
|
Nephrocalcinosis, Long penis, Polydactyly |
ORPHA:769 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Arachnodactyly, Nephrotic syndrome, Talipes equinovarus, Hydronephrosis, Adducted thumb |
OMIM:601776 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, Abnormality of the hand, A... |
ORPHA:2273 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Aspartylglucosaminuria |
|
Arthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:93 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Recurrent urinary tract infections, Short femur, Hypospadias, Camptodact... |
ORPHA:3455 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Mi... |
ORPHA:261537 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Syndactyly, Renal insufficiency, Postaxial polydactyly, Splenomegaly, Broad first met... |
OMIM:619534 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Asplenia, Dilatation of the renal pelvis, Dilatation of the bladder, Hy... |
OMIM:265380 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Splenomegaly, Leukopenia, Amin... |
OMIM:619991 |
Mowat-Wilson Syndrome |
|
Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Mi... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Asplenia, Calcaneovalgus deformity, Vesicoureteral reflux, Webbed penis, Mi... |
ORPHA:261552 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Hydronephrosis |
OMIM:620330 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
Neurocardiofaciodigital Syndrome |
|
Vesicoureteral reflux, Syndactyly, Polydactyly |
OMIM:619869 |
Viss Syndrome |
|
Long toe, Exostosis of the external auditory canal, Arachnodactyly, Rocker bottom foot, Hip dislo... |
OMIM:619472 |
Orofaciodigital Syndrome Xiv |
|
Broad hallux, Hamartoma of tongue, Epispadias, Postaxial hand polydactyly, Preaxial polydactyly, ... |
OMIM:615948 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Anemia, Hypoplasia... |
OMIM:188400 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Nephrolithiasis, Hip dysplasia, Vesicoureteral reflux, Hydronephrosis, Anemia |
ORPHA:438213 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Postaxial polydactyly |
OMIM:605627 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ... |
OMIM:610168 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly |
OMIM:301022 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Single transverse palmar crease, Urethrovaginal fistula, Splenomegaly, Clinodactyly ... |
OMIM:243800 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology |
ORPHA:95494 |