Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... |
ORPHA:3347 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Tracheal atresia |
OMIM:601612 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Tracheal atresia |
ORPHA:3346 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Atelectasi... |
ORPHA:3348 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im... |
ORPHA:71267 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ... |
OMIM:610967 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... |
OMIM:301014 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Odontochondrodysplasia 1 |
|
Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Genu varum, Short me... |
OMIM:184260 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition |
ORPHA:1094 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteri... |
ORPHA:166272 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica... |
OMIM:259440 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones |
ORPHA:53697 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Jung Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2321 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Isolated Osteopoikilosis |
|
Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, Syndactyly,... |
ORPHA:166119 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... |
ORPHA:53 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula |
ORPHA:93941 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Cranio... |
OMIM:259700 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe... |
OMIM:618363 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal dental ename... |
ORPHA:10 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... |
ORPHA:2790 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Moderate albuminuria, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of t... |
OMIM:619269 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ... |
ORPHA:79405 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Hypoplasia of penis |
OMIM:601427 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp... |
OMIM:234250 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short 1st metacarpal, Joint hyperflexibility, Hip dysplasia, Short mid... |
ORPHA:63442 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... |
OMIM:259710 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Mic... |
OMIM:613848 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Thin upper lip vermilion, Abnormal cortical bone morphology, Unilateral re... |
ORPHA:2512 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Small for gestational age, Renal agenesis, Cleft palate, Upper limb phocomelia, Atypi... |
ORPHA:294975 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Increased connective tissue, Carious teeth, Keratitis, Scarring alopecia of s... |
OMIM:226670 |
Pendred Syndrome |
|
Tracheal stenosis, Nephropathy |
ORPHA:705 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ... |
ORPHA:79406 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... |
OMIM:112240 |
Keutel Syndrome |
|
Recurrent respiratory infections, Pulmonary artery stenosis, Calcification of cartilage, Recurren... |
ORPHA:85202 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Micrognathia, Diastema, Patent ductus arter... |
OMIM:609757 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Failure to thrive, Pancytopenia, Unilateral renal agenesis, Postaxial polydactyly, ... |
OMIM:614576 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Obesity, Short metatarsal, Enamel hypo... |
OMIM:612463 |
Cranioectodermal Dysplasia 4 |
|
Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Stage 5 chronic kidney disea... |
OMIM:614378 |
48,Xyyy Syndrome |
|
Acne, Thick lower lip vermilion, Abnormal renal morphology, Irregularly spaced teeth, Radioulnar ... |
ORPHA:99329 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Inguinal hernia, Abnormal ... |
ORPHA:96263 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti... |
OMIM:610968 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr... |
ORPHA:1830 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Emanuel Syndrome |
|
Broad jaw, Chronic oral candidiasis, Recurrent urinary tract infections, Congenital hip dislocati... |
OMIM:609029 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic scars, Abnormality ... |
ORPHA:79411 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Velop... |
OMIM:613680 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Anemia |
ORPHA:79402 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut... |
OMIM:203550 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Unilateral renal agenesis, Cleft upper lip, Micrognathia,... |
OMIM:608572 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... |
OMIM:616294 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hall... |
OMIM:212780 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive |
OMIM:226700 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Toe syndactyly, ... |
ORPHA:819 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Micrognathia, Postaxial ... |
OMIM:618142 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate... |
OMIM:607015 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Momo Syndrome |
|
Delayed eruption of teeth, Large for gestational age, Thick lower lip vermilion, Dental malocclus... |
ORPHA:2563 |
Majeed Syndrome |
|
Flexion contracture, Glomerulopathy, Increased bone mineral density, Hepatomegaly, Acne, Congenit... |
ORPHA:77297 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Infertility |
OMIM:300719 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract |
OMIM:619813 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Osteoporosis, Hip dis... |
OMIM:616507 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... |
ORPHA:96264 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario... |
OMIM:131300 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... |
OMIM:144750 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Small for gest... |
OMIM:101800 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Tracheobronchomegaly |
|
Death in infancy, Recurrent bronchopulmonary infections, Diverticulosis of trachea, Bronchiectasis |
OMIM:275300 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosin... |
OMIM:147060 |
Hypomandibular Faciocranial Dysostosis |
|
Tracheal stenosis, Death in infancy, Recurrent respiratory infections, Abnormal tracheobronchial ... |
ORPHA:1790 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Ck Syndrome |
|
Dental crowding, Micrognathia, Abnormal digit morphology, High palate, Malar flattening, Abnormal... |
OMIM:300831 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Recurre... |
ORPHA:251004 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi... |
ORPHA:96170 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil... |
ORPHA:245 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious ... |
OMIM:612714 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Camptodactyly of fi... |
OMIM:619951 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow... |
ORPHA:1423 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Premature loss of t... |
OMIM:174810 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Carious te... |
OMIM:277440 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Hemolytic-uremic syndrom... |
OMIM:614727 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... |
ORPHA:3019 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Specific Granule Deficiency 2 |
|
Osteopenia, Absent neutrophil specific granules, Brachydactyly, Sandal gap, Conical tooth, Thromb... |
OMIM:617475 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, ... |
ORPHA:887 |
Hypogonadism-Cataract Syndrome |
|
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... |
OMIM:240950 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis |
OMIM:620183 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Abnormal epiphysis morphology, Neutropenia, Enamel hypoplasia, Brach... |
ORPHA:2643 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Increased body mass index, Omphalocele, Congenital hip dislocation, In... |
OMIM:614450 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation, Tracheal s... |
ORPHA:3301 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Braddock Syndrome |
|
Preaxial hand polydactyly, Failure to thrive, Unilateral renal agenesis, Micrognathia |
ORPHA:52047 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping toe, Unilateral renal agenesis, High, narrow palate, Renal ... |
OMIM:618494 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Joint hypermobility, Unilateral renal agenesis, Cleft lip, Pierre-Robin... |
OMIM:619504 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ... |
OMIM:157980 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilater... |
OMIM:614900 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, E... |
OMIM:618205 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Micrognathia, Cleft upper lip, Ectopic kidney, Cleft p... |
OMIM:601076 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Short philtrum, Talipes equinovarus, ... |
ORPHA:3306 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesi... |
OMIM:616737 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly, Syndactyly |
OMIM:613576 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enam... |
ORPHA:1133 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border, Hepatitis |
ORPHA:363523 |
Fraser Syndrome 3 |
|
Hypoplasia of penis, Abnormal lung lobation, Ureteral agenesis, Stillbirth, Tracheal atresia |
OMIM:617667 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... |
OMIM:224300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N... |
OMIM:615285 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Micrognathia, Umbilical hernia, Nephroblastoma, Enlar... |
OMIM:618272 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Thickened co... |
OMIM:253250 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Upper limb peromelia, Downturned corners of mou... |
ORPHA:1299 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of t... |
ORPHA:2484 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... |
OMIM:618761 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Obesity, Short metatarsal, ... |
OMIM:103580 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Short toe, Tooth ag... |
ORPHA:633 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Mi... |
ORPHA:628 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Re... |
ORPHA:2863 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia, Shagree... |
ORPHA:1816 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atrophic... |
ORPHA:79409 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal age... |
ORPHA:2260 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngea... |
OMIM:129400 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Acne, Camptodactyly of finger,... |
ORPHA:137834 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of... |
ORPHA:289176 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... |
ORPHA:536467 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Cleft palate, Oligosacchariduria, Downt... |
ORPHA:163649 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the dentition, Carious teeth, Radioulnar synostosis,... |
ORPHA:3270 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria, Arthri... |
ORPHA:375 |
Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip d... |
OMIM:616362 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Hypospadias, Diastema, Agenesis of molar, Supernumerary tooth, ... |
OMIM:619718 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Cleft palate,... |
ORPHA:79284 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra... |
ORPHA:666 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Atypical scarring of skin, A... |
ORPHA:79410 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn... |
ORPHA:85184 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs,... |
OMIM:610682 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Ever... |
OMIM:619980 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... |
OMIM:194072 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Short humeru... |
OMIM:239000 |
Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage flui... |
OMIM:608710 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, T... |
OMIM:612350 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 f... |
OMIM:164200 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
Hypophosphatasia, Childhood |
|
Elevated urine pyrophosphate, Craniosynostosis, Premature loss of primary teeth, Carious teeth, B... |
OMIM:241510 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Obesity, Short metatarsal, Low urinary... |
OMIM:612462 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Short lo... |
OMIM:618845 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Micropenis, Increased overbite |
OMIM:618504 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period... |
ORPHA:79259 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Abnormal pelvis bone morph... |
ORPHA:73 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Patent ductus arteriosus, ... |
OMIM:617190 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... |
ORPHA:534 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Small for gestational age, Rocker bottom foot, Micrognathia, Carious t... |
OMIM:214150 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis |
OMIM:244200 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Failure to thrive in infancy, Rhizomelia, Craniosynostosis, Micrognathia, Tooth ... |
ORPHA:2645 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horse... |
ORPHA:94063 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia... |
OMIM:619752 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Renal hypoplasia, Micro... |
OMIM:616541 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral densi... |
OMIM:617052 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
Proteus Syndrome |
|
Thin bony cortex, Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hype... |
OMIM:176920 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia |
OMIM:606893 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Neonatal death, Long h... |
OMIM:259775 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Urethral atresia, ... |
ORPHA:1896 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypo... |
OMIM:613823 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesit... |
OMIM:300602 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... |
OMIM:259730 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Downturned corners of mouth, Craniosynostosis, Unilateral renal agenesis, Micrognathia |
ORPHA:1064 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Arthritis, A... |
ORPHA:37748 |
Branchiootorenal Syndrome 1 |
|
Renal dysplasia, Renal malrotation, Branchial cyst, Branchial fistula, Congenital hip dislocation... |
OMIM:113650 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Micrognathia, Tapered finger, Dental malocclusion, Alveo... |
ORPHA:444072 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavicle, Hypopla... |
OMIM:620099 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Open bite, Joint hyperflexibility, Abnormal pelvic girdle... |
ORPHA:2097 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Pancytopenia, Dental crowding, Selective tooth agenesis, Hypospadias, Micrognath... |
OMIM:210600 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Abnormality of the dentition, Clinodactyly, Nephrocalcinosis, Oligodontia,... |
ORPHA:557003 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheal stenosis, Hypospadias, Tracheomalacia |
OMIM:217980 |
Geleophysic Dysplasia 3 |
|
Tracheal stenosis, Pneumonia |
OMIM:617809 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis... |
ORPHA:221139 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Recurrent urinary tract infections, Exaggerated cupid's b... |
OMIM:619293 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis... |
ORPHA:77259 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the... |
ORPHA:416 |
Dyskeratosis Congenita |
|
Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Abnormality of the dentition, Hypo... |
ORPHA:1775 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Micrognathia, Osteopetrosis, Decreased body weight, Clinodactyly ... |
OMIM:617306 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Filippi Syndrome |
|
2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion border, Short philt... |
OMIM:272440 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Abnormal bronchus morphology |
ORPHA:93352 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, P... |
OMIM:619797 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... |
ORPHA:487796 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis, Hydronephrosis, Tracheal calcification |
OMIM:302960 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... |
ORPHA:2919 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Abnormal bronchus morphology, Pulmonary artery stenosis, Trache... |
ORPHA:79345 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia |
OMIM:183300 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Epispadias, Abnormal finger morphology, Symphalangism... |
ORPHA:2658 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Keratitis, Scarring alopecia of scalp, Folliculitis, Conjunctivitis, Enamel hypopl... |
OMIM:612843 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short philtrum, High palat... |
ORPHA:96121 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin... |
OMIM:308050 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... |
ORPHA:2107 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, Microcytic anemia, High palate, Clinodactyly of the 5th finger, Long to... |
OMIM:611174 |
Hydrolethalus |
|
Tracheal atresia |
ORPHA:2189 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca... |
OMIM:269300 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency anemi... |
OMIM:212750 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Micropenis, High palate, Unilateral renal agenesis |
OMIM:308750 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Decreased body weight, Dental crowding, Persistence of primary teeth, Micrognathia,... |
OMIM:618342 |
Mucopolysaccharidosis-Plus Syndrome |
|
Metaphyseal widening, Flexion contracture, Leukopenia, Neutropenia, Nephritis, Hepatomegaly, Pate... |
OMIM:617303 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
Beemer-Ertbruggen Syndrome |
|
Deep philtrum, Increased bone mineral density, Thrombocytopenia, Micrognathia |
ORPHA:1237 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h... |
ORPHA:94089 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Potocki-Shaffer Syndrome |
|
Nephroblastoma, Micrognathia, Downturned corners of mouth, Short philtrum, Micropenis, Decreased ... |
ORPHA:52022 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Desmosterolosis |
|
Failure to thrive, Increased bone mineral density, Renal agenesis, Micromelia, Micrognathia, Rena... |
ORPHA:35107 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Coxa valga, Carious teeth, Hypoplasia of teeth, Genu valgum, Hypophosphatemic ... |
OMIM:613312 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu valg... |
OMIM:616202 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Microgn... |
OMIM:259720 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Large h... |
ORPHA:3220 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro... |
OMIM:616354 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars... |
ORPHA:79444 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph... |
OMIM:190350 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Dental crowding, Hypospadias, Joint stiffness, Tracheobronchomalacia, Pierr... |
OMIM:619184 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Foot oligodactyly... |
OMIM:154400 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Scarring, Delayed eruption of primary teeth, Flexion contrac... |
ORPHA:90322 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Failure to thrive, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contract... |
OMIM:604273 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia |
ORPHA:517 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... |
OMIM:613684 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Laryngotracheal stenosis |
OMIM:222600 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos... |
ORPHA:2314 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... |
OMIM:618506 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Hypospadias, Cleft palate, Evert... |
OMIM:619736 |
Meckel Syndrome, Type 8 |
|
Cleft upper lip, Cleft palate, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyp... |
OMIM:613885 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora... |
ORPHA:952 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Tracheal stenosis, Recurrent respiratory infections |
ORPHA:2637 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short palm, Omphalocele, Accessory spleen, Small for gestational age, Unilateral renal agenesis, ... |
OMIM:618419 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... |
OMIM:218400 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Post... |
OMIM:216360 |
Endocrine-Cerebroosteodysplasia |
|
Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Microphallus, Thick upper lip verm... |
OMIM:612651 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Recurrent fractures, Craniosynostosis, Ab... |
ORPHA:436 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta... |
OMIM:213980 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Cleft pal... |
ORPHA:2635 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi... |
OMIM:601957 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Limitation of joint mobility, Ectopic ossification in ligament tissu... |
ORPHA:337 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R... |
ORPHA:2614 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil... |
ORPHA:1193 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Sandal gap, Micrognathia, Renal hypoplasia/aplasia, Splenomegal... |
ORPHA:1046 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Camptodactyly... |
ORPHA:468631 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostos... |
ORPHA:171839 |
H Syndrome |
|
Hallux valgus, Psoriasiform dermatitis, Lipodystrophy, Abnormality of the kidney, Recurrent fract... |
ORPHA:168569 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Progressive alveolar ridge hypertro... |
OMIM:252500 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp... |
ORPHA:1897 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Short femur, Recurrent fractures, Unilateral renal agenesis, Metaphy... |
OMIM:618188 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nar... |
OMIM:226600 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Hepatospl... |
OMIM:614592 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Cleft palate, Cervical C2/C3 vertebral fusi... |
OMIM:118100 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr... |
ORPHA:324964 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Long philtrum, Purse... |
ORPHA:800 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph... |
ORPHA:839 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp... |
OMIM:618727 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, D... |
ORPHA:884 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, High palate, Malar flatten... |
OMIM:618874 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hip contracture, Hydroureter, Unilateral renal agenesis, Broad distal p... |
OMIM:619194 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bon... |
ORPHA:50945 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Hypoplasia of the uterus, Leukopenia, Anemia, Bone ma... |
OMIM:619151 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contracture, De... |
ORPHA:90321 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,... |
OMIM:618107 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Finger syndactyly, Inguinal hernia, Camptodactyly of finge... |
ORPHA:915 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Submucous cleft hard palate, Fused cervical vertebrae,... |
OMIM:619227 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,... |
ORPHA:181 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k... |
OMIM:614527 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Overweight, Hiatus hernia, Patent ductus arteriosu... |
OMIM:619769 |
Atelis Syndrome 1 |
|
Eczema, Carious teeth, Thrombocytopenia, Bronchiectasis, Leukopenia, High palate, Long philtrum, ... |
OMIM:620184 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Micropenis, High palate, Unilateral renal agenesis |
OMIM:308700 |
Osteopetrosis With Renal Tubular Acidosis |
|
Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Persistenc... |
ORPHA:2785 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Chronic ki... |
ORPHA:85445 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Hydroureter, Abnormal dental morphology, Abnormal de... |
ORPHA:1458 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H... |
OMIM:613091 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Short fifth metatars... |
ORPHA:79443 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small for gestational age, Abnormal finger flexion c... |
ORPHA:2980 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia |
ORPHA:99927 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Eczema, Increased urinary sulfite level, Decreased u... |
OMIM:272300 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... |
ORPHA:1486 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hy... |
OMIM:617661 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Igg4-Related Thyroid Disease |
|
Tracheal stenosis |
ORPHA:64744 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Dental crowding, Avascular ne... |
OMIM:190351 |
Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly |
OMIM:236110 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int... |
ORPHA:69087 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Central Y-shaped m... |
OMIM:617926 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Sinusitis, Transient neutropenia, Aplastic anemia, Metaphyseal cho... |
ORPHA:811 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Persistence of primary te... |
ORPHA:46627 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... |
ORPHA:2410 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Small for gestational age, Micrognathia, Osteoporosis, Truncal obesity... |
ORPHA:73272 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va... |
OMIM:608940 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Ope... |
ORPHA:1327 |
Scarf Syndrome |
|
Inguinal hernia, Craniosynostosis, Perineal hypospadias, Micropenis, Joint hyperflexibility, Shor... |
ORPHA:3134 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndact... |
OMIM:270400 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Craniosynostosis, Abnormality of the dentition, Bowing of the legs,... |
OMIM:241500 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... |
ORPHA:950 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... |
ORPHA:33364 |
Cohen Syndrome |
|
Short metacarpal, Small for gestational age, Micrognathia, Hypoplasia of the maxilla, High, narro... |
OMIM:216550 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Oslam Syndrome |
|
Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu... |
ORPHA:2760 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Micrognathia, Bowing o... |
ORPHA:313855 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the lung, Laryngotracheal stenosis, Tracheoesophageal fistula, Abnormal skeletal musc... |
ORPHA:142 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing |
OMIM:126550 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Dental crowding, Metaphyseal widening, Cranial hyperostosis, Flared metaph... |
OMIM:123000 |
Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Hypospadias, Hydronephrosis |
OMIM:300712 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Ureteral stenosis, Cone-shaped epiphyses o... |
OMIM:309350 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Hepatomegaly, Abnormal dental morphology, Renal hyp... |
ORPHA:191 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia |
ORPHA:99811 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th fing... |
OMIM:614608 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Splenome... |
ORPHA:47612 |
Geleophysic Dysplasia 1 |
|
Tracheal stenosis, Joint contracture of the hand, Wrist flexion contracture, Camptodactyly of finger |
OMIM:231050 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper... |
ORPHA:88630 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m... |
ORPHA:2673 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic... |
OMIM:619356 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Vesicoureteral reflux, Micropenis, Elbo... |
ORPHA:95699 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short ph... |
ORPHA:221016 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Proteinuria, Sagittal craniosynostosis, Micrognathia, Hematuria, Tubulointerstitial ... |
OMIM:616901 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Hypospadias, Short palm |
OMIM:101805 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Patent ductus arteriosus, S... |
ORPHA:2712 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Synostosis... |
ORPHA:289 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Oral ulcer, Gout, Focal s... |
OMIM:232220 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Nephrocalcinosis, Flexion contracture |
OMIM:617105 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcornea, Cataract, Hypogonadism |
ORPHA:2528 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Limitation of joint mobility, Temp... |
ORPHA:2741 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Abnormality of the... |
ORPHA:2323 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... |
OMIM:617237 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Renal hypoplasia, Cleft pal... |
OMIM:614083 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Urethrovesical occlusion, Atrophic scars, Arthrogryposis multiplex congeni... |
OMIM:226730 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Osteopetrosis, Failure to thrive, Anemia |
OMIM:615085 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Ca... |
ORPHA:90324 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypoplasia, Cleft palate, High pa... |
OMIM:246560 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Unilateral renal agenesis |
OMIM:235740 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... |
ORPHA:93324 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chon... |
ORPHA:99646 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Gastrointestinal inflammation, A... |
ORPHA:79404 |
Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Small for gestational age, Dental malocclusion, Prominent calcaneus, S... |
OMIM:612921 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... |
ORPHA:100024 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Brachydactyly, Inguinal hernia, Sandal gap, Thick lower lip vermilion,... |
OMIM:614607 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic... |
OMIM:617641 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Micromelia, Bilateral renal hypoplasia, Cleft maxilla... |
ORPHA:508488 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossificatio... |
OMIM:244460 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Joint laxity, Vertebral fusion, Renal agenesis, Small f... |
OMIM:615583 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien... |
ORPHA:79408 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Flexion contracture, Genu valgum, Irregu... |
ORPHA:263463 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,... |
OMIM:610253 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of fing... |
ORPHA:221008 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Small for gestational age, Long penis, High palate, Advanced eruption of t... |
OMIM:262190 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Tubulointerstitial nephritis, High palate, Widely spaced teeth, Microdontia,... |
OMIM:218330 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Prot... |
ORPHA:1855 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clinodactyly, Failu... |
OMIM:617883 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Sandal gap, Joint hypermobility, C... |
OMIM:619229 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth mal... |
ORPHA:3238 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Cataract |
ORPHA:79238 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Tracheal stenosis, Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Lipodystrophy, Lipoat... |
ORPHA:2348 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Hypoplasia of the maxilla, Cra... |
OMIM:617140 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Larsen Syndrome |
|
Tracheal stenosis, Bronchomalacia, Tracheomalacia |
OMIM:150250 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammatio... |
ORPHA:79403 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, Elbow flexion c... |
OMIM:272430 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Oligod... |
ORPHA:2315 |
Werner Syndrome |
|
Renal neoplasm, Increased bone mineral density, Lipodystrophy, Rocker bottom foot, Lipoatrophy, J... |
ORPHA:902 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology |
ORPHA:2238 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosyn... |
ORPHA:667 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene... |
OMIM:617666 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Enlarged epiphyses, Inguinal hernia, Small for gestation... |
OMIM:269880 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Acute leukemia |
ORPHA:281090 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Neurogenic bladder, Decreased muscle mass, Elbow contracture, Camptodactyly, Tra... |
OMIM:617137 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneous fat, Corneal scarring, Premat... |
OMIM:610965 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Short lingual frenulum, Unilateral renal agenesis, Widely-spaced maxillary centra... |
OMIM:608980 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor... |
ORPHA:2063 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Hernia... |
OMIM:616603 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300554 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat... |
OMIM:619322 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal lung lobation, Stillbirth, Tracheal stenosis, Agenesis of the diaphragm, Hy... |
OMIM:236680 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epip... |
OMIM:241530 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Recurrent fractures, Ab... |
ORPHA:2050 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... |
OMIM:113300 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... |
ORPHA:50814 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Eczema, Thrombocytopenia, Gingival ov... |
ORPHA:508542 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cle... |
OMIM:300867 |
Lead Poisoning |
|
Delayed eruption of teeth, Small for gestational age, Skin rash, Chronic kidney disease, Cranial ... |
ORPHA:330015 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Short 4th toe, Microdon... |
OMIM:615873 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp... |
OMIM:620193 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender lon... |
OMIM:612731 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... |
OMIM:226990 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Recurrent urinary tract infections, Inguinal hernia, Hypospadias, Cleft soft palat... |
ORPHA:268261 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Un... |
OMIM:616300 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300009 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou... |
ORPHA:582 |
Cartilage-Hair Hypoplasia |
|
Tracheal stenosis, Aplasia/Hypoplasia of the abdominal wall musculature, Mucopolysacchariduria |
ORPHA:175 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Brachydactyly, Adducted thumb |
OMIM:620062 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Hypospadias, Abnor... |
ORPHA:2616 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Anemia, Ne... |
ORPHA:575 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... |
OMIM:619503 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Scarring, Craniosynostosis, Oral mucosal blisters, Atrophic scars, Smo... |
ORPHA:79396 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Patent ductus arteriosus, Renal tubular dysfunction, Decreased body... |
OMIM:614886 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... |
OMIM:272460 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, 3-4 fin... |
OMIM:181270 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Renal cyst, Downturned co... |
ORPHA:261494 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Cleft palate, Ulnar deviation of fing... |
ORPHA:949 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Abnormality of the kidney, Tracheomalacia, Abnormality of the denti... |
ORPHA:261652 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Transient neutropenia, Chronic ... |
ORPHA:500095 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Eczema, Conical tooth, Hypoplasia o... |
OMIM:305100 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Toe syndactyly, Camptodactyly of finger, Unilateral ren... |
ORPHA:261337 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Large for gestational age, Micropenis, Bifid uvula, Microretrognathia, Mesoaxial ... |
ORPHA:672 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o... |
OMIM:620370 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... |
ORPHA:507 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyosarcoma, Uterine leiomyoma, Cataract, Vaginal neoplasm |
ORPHA:523 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Everted upper lip vermilion, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, al... |
OMIM:619824 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Aphthous ulcer, Bronchiecta... |
OMIM:301082 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long toe, Tapered toe, Hepatomegaly, ... |
OMIM:608836 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Short palm, Micrognathi... |
ORPHA:85201 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplasti... |
OMIM:235510 |
Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, ... |
ORPHA:818 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Aphthous ulcer, Leukocytosis, Uveitis, Arthritis, Renal amyloidosis, Conjunctivitis |
OMIM:120100 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Advanced eruption of teeth, Failure to thrive, Oral leukoplakia |
ORPHA:2309 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Spl... |
OMIM:309900 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, High palate, Short philtrum, Advan... |
OMIM:619148 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ... |
OMIM:104570 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia |
OMIM:601345 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Micrognathia, Glossoptosis, High palate, Hypospadias, Rhizomelia, Hemolytic-uremic sy... |
OMIM:611209 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Joint stiffness, Coxa valga, Patent ductus arteriosus, Splenomeg... |
OMIM:230600 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Joint laxity, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth... |
OMIM:253000 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Lymphopenia, Carious teeth, Neutropenia, Eclabion, Failure to thrive |
OMIM:616395 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypopl... |
ORPHA:2409 |
Scarf Syndrome |
|
Inguinal hernia, Coronal craniosynostosis, Perineal hypospadias, Micropenis, Short sternum, Lambd... |
OMIM:312830 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational... |
ORPHA:464306 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
OMIM:616367 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Small hand, Short foot... |
OMIM:241410 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Patent ductus arteriosus, Gingival fibromat... |
OMIM:602398 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism |
ORPHA:1381 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Renal insufficiency, Pancytopenia, Micrognathia, Abnormality of the dentitio... |
ORPHA:85321 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... |
ORPHA:93357 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Slender build, Narrow palate, Micropenis, Short upper lip, T... |
ORPHA:364028 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... |
ORPHA:1031 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Talipes equinovaru... |
OMIM:617865 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Failure to thrive, Flexion contracture of finger, Brachydactyly, Recur... |
OMIM:601812 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Short femur, Dental crowdin... |
OMIM:300990 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Narrow mouth, Patent ductus arteriosus, Cleft palate, Thin vermilion border, Long philtrum, Incis... |
OMIM:615502 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, High palate, Short philtrum, Hypoplasia of the thymus, Bifid u... |
OMIM:188400 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Lymphopenia, Splenomegaly, Thrombocy... |
OMIM:617591 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Urinary incontinence, Abnormality of the dentition, Micrognathia, Un... |
ORPHA:476126 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Micrognathia, Ectopic kidney, High, narrow palate, Proximal placement of thumb, Conge... |
OMIM:122470 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung l... |
ORPHA:2052 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly... |
OMIM:269500 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Abnormal dental morpholog... |
ORPHA:568 |
Radial-Renal Syndrome |
|
Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Abnorm... |
ORPHA:85408 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, High, narrow palate, Joint stiffness, Cle... |
ORPHA:2516 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Inguinal hernia, Omphaloc... |
OMIM:247200 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Splenomegaly, Sclerosing cholangitis, Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... |
OMIM:615382 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Hypospadias, Eczema, Craniosynostosis, Micrognathia, Cario... |
ORPHA:96097 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Alg9-Cdg |
|
Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uvula, Microretrogn... |
ORPHA:79328 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, Abnormality of the kidney, High, narrow palate, Patent ductu... |
OMIM:117550 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Osteopenia, Syndactyly, Brachydactyly, Small for gestational age, Proximal pla... |
OMIM:615789 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... |
ORPHA:192 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Increased connective tissue, Hiatus hernia, Atrophic scars, Vesicouret... |
OMIM:606408 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,... |
OMIM:618975 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Eczema, Scarring alopecia of scalp, Cleft palate, Short philtrum, Acne inversa |
OMIM:617337 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormality of the dentition, Wide mouth, Enamel hypoplasia, Failure to thrive, Bifid uvula |
OMIM:615802 |
Erdheim-Chester Disease |
|
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Skin rash, Osteolysi... |
ORPHA:35687 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Clubbing, Bronchiectasis, Weight loss, Keratoconjunctivitis sicc... |
ORPHA:79128 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Int... |
OMIM:127550 |
Lowe Oculocerebrorenal Syndrome |
|
Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Osteomal... |
OMIM:309000 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, C... |
ORPHA:457284 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal syno... |
ORPHA:1307 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Short palm, Micropen... |
OMIM:268310 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus... |
ORPHA:505248 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Micrognathia, Hyperimidodipeptiduria, Splenomegaly, Thrombocytopenia, Recur... |
OMIM:170100 |
Cockayne Syndrome A |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:216400 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Maculopapular exanthema, Leukocytosis, Clubbing of fingers, Conjunctivitis, ... |
OMIM:191900 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Long fingers, Abnormality of dental eruption, Hip dislocation,... |
ORPHA:96092 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Arachnodactyly, Micrognathia, Carious teeth, Splenomegaly, Crus... |
ORPHA:742 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis |
OMIM:611762 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... |
OMIM:300373 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Micrognathia, Short hallux, Stage 2 chronic... |
OMIM:620305 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... |
OMIM:618963 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Martsolf Syndrome 2 |
|
Cataract, Hypogonadotropic hypogonadism, Developmental cataract |
OMIM:619420 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate... |
ORPHA:464311 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology... |
ORPHA:93 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Nephrolithiasis, Joint hyperflexi... |
ORPHA:2067 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Thrombocyt... |
OMIM:242900 |
Immunodeficiency 27A |
|
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocy... |
OMIM:209950 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ne... |
OMIM:616738 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, M... |
OMIM:145420 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity... |
OMIM:249420 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Tapered finger, Seborrheic derma... |
OMIM:301072 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Poikiloderma With Neutropenia |
|
Joint laxity, Skin rash, Micrognathia, Carious teeth, Joint stiffness, Splenomegaly, Recurrent pn... |
OMIM:604173 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent f... |
ORPHA:355 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Hyperphosphaturia, Recurrent fractures, Abnormal toe mor... |
OMIM:163200 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Cleft p... |
ORPHA:2237 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpho... |
ORPHA:2363 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu... |
ORPHA:464329 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... |
ORPHA:659 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Lymphopenia, Abnormal dental morphology, Abnormal o... |
ORPHA:2136 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Arachnodact... |
ORPHA:2215 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,... |
ORPHA:2842 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Hypophosphaturia, Dental malocclusion, Localized hypoplas... |
ORPHA:73223 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Carious teeth, Flexion contracture, Osteolysis, Oliguria, Arthritis, Narrow ... |
ORPHA:220393 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Hig... |
OMIM:607812 |
Dent Disease |
|
Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa... |
ORPHA:1652 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Chronic kidney disease, O... |
ORPHA:261222 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Bowing of the long bones, Lipodystrophy, Increased adipose ti... |
ORPHA:199276 |
Poems Syndrome |
|
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis, Weight loss... |
ORPHA:2905 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Micrognathia, Cardiomegaly, Abnormal tubulointerstitial morpholo... |
ORPHA:904 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Hepatomegaly, Inguinal hernia, Pneumonia, Joint ... |
OMIM:253200 |
Trisomy 9P |
|
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly... |
ORPHA:236 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Axial malrotati... |
OMIM:274000 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Renal malrotation, Clinodactyly, Thick vermilion border, Everted lower... |
OMIM:615866 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Laryngomalacia |
|
Abnormal tracheal morphology |
OMIM:150280 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Conjunctiv... |
OMIM:620192 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, High palate, N... |
OMIM:614520 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Hypospadias, Unilateral renal agenesis, Limited elbow movement, Cleft pala... |
OMIM:151100 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Supernumerary tooth, Patent duc... |
ORPHA:86818 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation... |
OMIM:268400 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis... |
ORPHA:2908 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Re... |
OMIM:615560 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Metaphysea... |
OMIM:618476 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hepatomegaly, Hamartoma of tong... |
OMIM:269860 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti... |
ORPHA:369950 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia |
OMIM:614381 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Micrognathia, 2-4 toe syndactyly... |
OMIM:614099 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gestational ag... |
OMIM:260400 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Premature loss of ... |
ORPHA:99843 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, H... |
ORPHA:2872 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentition, Nephrol... |
ORPHA:93598 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Small for gestational age, Homocystinuria, ... |
OMIM:277380 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract, Hepatosplenomegaly |
OMIM:614885 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Failure to thrive in infancy, Joint hypermobility, Unilateral renal ... |
ORPHA:500150 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Narrow greater sciatic notch,... |
OMIM:312870 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Webbed penis, Micropenis, Fused thoracic vertebra... |
ORPHA:97360 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis |
ORPHA:110 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... |
OMIM:277170 |
Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, M... |
OMIM:146510 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Failure to thrive, Oral leukoplakia |
OMIM:616353 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Agenesis of permanent teeth, Pelvic kidney, Anemia |
OMIM:617244 |
Schisis Association |
|
Omphalocele, Small for gestational age, Renal agenesis, Micromelia, Congenital diaphragmatic hern... |
ORPHA:63862 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosi... |
ORPHA:98850 |
Generalized Pustular Psoriasis |
|
Renal insufficiency, Overweight, Pustule, Leukocytosis, Cheilitis, Obesity, Uveitis, Arthritis, P... |
ORPHA:247353 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Unilateral renal agenesis, Abnormal paranasal sinus morphology... |
ORPHA:141099 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Small for gestational age, Unilateral renal agenesis, Patent ductus arteriosus, Neonatal death, F... |
OMIM:620024 |
Familial Benign Copper Deficiency |
|
Anemia, Deep philtrum, Diaphyseal thickening, Acne |
ORPHA:1551 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... |
ORPHA:2962 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodacty... |
ORPHA:158687 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Conjunctivitis, Chronic mucocutaneous ca... |
ORPHA:36913 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Red urine, Osteolysis, C... |
OMIM:263700 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Cardiomegaly, Deep philtrum, Iron deficiency anemia, Sh... |
OMIM:300855 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Small for gestational age, Selective tooth agenesis, Micrognathia, High, narrow pala... |
OMIM:234100 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Reduced bone mineral density, G... |
ORPHA:828 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Thin bony cortex, Dental crowding... |
OMIM:309583 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatom... |
OMIM:612541 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Widely... |
OMIM:266920 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Antecubital pterygium |
OMIM:616258 |
Bladder Exstrophy And Epispadias Complex |
|
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal p... |
OMIM:600057 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis |
OMIM:167210 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobil... |
ORPHA:2796 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula |
OMIM:189960 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Weight loss, Hematuria, Leukop... |
ORPHA:520 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate... |
ORPHA:2108 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Small for gestational age, Splenomegaly, Elbow flexion contracture,... |
OMIM:618440 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Increased density of long bones, Thickened cortex of... |
OMIM:269150 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa... |
ORPHA:79474 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne... |
OMIM:314390 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Large for gestation... |
ORPHA:116 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Omenn Syndrome |
|
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Thyroiditis, Nephro... |
ORPHA:39041 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Chordee, Peters anomaly... |
OMIM:309801 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Femoral bowing, Stillbirth, Talipes equinovarus, Cystic renal dysplasia, ... |
OMIM:615415 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Short philtrum, High palate,... |
ORPHA:798 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Recurrent skin infections, Carious teeth, Narrow mouth, Flexion contracture, Atypical scarring of... |
ORPHA:89842 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia |
ORPHA:83601 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Er... |
OMIM:620072 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Wrist ... |
ORPHA:1826 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Short ... |
OMIM:135500 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi... |
OMIM:232200 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Abnormal hemidiaphragm morphology, Pneumotho... |
ORPHA:2257 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal agenesis, Unilater... |
OMIM:308205 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Orofaci... |
ORPHA:77301 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st... |
OMIM:305600 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen... |
OMIM:301040 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Lymphopenia, Tented upper lip vermilion, Patent ductus arteriosus after pre... |
OMIM:618460 |
Galactokinase Deficiency |
|
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Hyperins... |
ORPHA:79237 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Tapered finger, Lon... |
ORPHA:521445 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Absent thumb, Micrognathia, Short thumb, Hypoplasia of the radius, Horseshoe kidney... |
OMIM:613951 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Atelosteogenesis Type I |
|
Laryngotracheal stenosis, Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:1190 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Scarring, Splen... |
ORPHA:95159 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio... |
OMIM:215140 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Inguinal hernia, Hypospadias, Eczema, Aplastic anemia, Mic... |
OMIM:223370 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Anem... |
OMIM:276700 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Morgagni diaphr... |
OMIM:613309 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:133540 |
Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Pitt-Hopkins Syndrome |
|
Tapered finger, Hiatus hernia, Broad fingertip, Short metatarsal, Small hand, Micropenis, Wide mo... |
ORPHA:2896 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th finger, H... |
OMIM:280000 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hype... |
ORPHA:79277 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... |
OMIM:143095 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Carious teeth, Osteoporosis, Microdontia, Oral leukoplakia, Thromb... |
OMIM:224230 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th... |
ORPHA:124 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Gracile Bone Dysplasia |
|
Aniridia, Micropenis, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli... |
ORPHA:1297 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H... |
ORPHA:2461 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia... |
OMIM:127000 |
Congenital Tracheal Stenosis |
|
Abnormal bronchus morphology, Abnormal lung morphology, Abnormal lung lobation, Abnormality of th... |
ORPHA:141127 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Otitis media, Vesicoureteral reflux, Joint laxity, Hypospadias, Broad hallux, Su... |
ORPHA:353281 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Failure to thrive, Mesoaxial polydactyly, Renal agenesis, Hamartoma of tongue, Microg... |
ORPHA:2754 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Decreased body weight, Juvenile ... |
OMIM:266270 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Cholangitis, Micrognathia, Hypersplenism... |
ORPHA:731 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Cleft lip, Preaxial polyda... |
OMIM:617925 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Recurrent urinary tract infections, Abnormality ... |
ORPHA:847 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Long toe, Renal agenesis, Abnormality of the kidney, Craniosynostosis, Mic... |
DECIPHER:81 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Abnormality of the dentiti... |
OMIM:605822 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... |
OMIM:614204 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,... |
ORPHA:3015 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, High palate, Bifid... |
OMIM:211380 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Splenomegaly, Thrombocyt... |
ORPHA:77261 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia... |
OMIM:617053 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor... |
ORPHA:3353 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Failure to thrive, Wide mouth |
ORPHA:1231 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M... |
ORPHA:1071 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Sapho Syndrome |
|
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, High palate, Vesicoureteral reflux, Recurrent aspi... |
ORPHA:2745 |
Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Humeral pseudarthrosis, Sho... |
ORPHA:2044 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hypospad... |
OMIM:613673 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Inguinal hernia, Unilateral renal agenesis, Hip dislocation, Bronchiect... |
ORPHA:90348 |
Bnar Syndrome |
|
Abnormal fifth toe morphology, Renal agenesis, Short lingual frenulum |
ORPHA:217266 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Recurrent urinary tract infections, Inguinal hernia, Broa... |
ORPHA:404448 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:618541 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Maculopapular exanthema, Scarring, Eosinophilia, Conical tooth, Kerati... |
OMIM:308300 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Hip dysplasia, Macrodon... |
ORPHA:466722 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Enlarged ovaries, Dental crowding, Ab... |
ORPHA:769 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Conical primary incisor |
OMIM:602400 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... |
OMIM:304790 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... |
ORPHA:508 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Polysplenia,... |
OMIM:200995 |
Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Patent ductus arteriosus, Narrow pa... |
OMIM:277600 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Dental crowding, Delayed eruption of primary teeth, Eczema, Urinary re... |
OMIM:617799 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Nephrocalcinosis... |
ORPHA:79500 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hypospadias, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, ... |
OMIM:123790 |
Kallmann Syndrome |
|
Hypoplasia of penis, Renal agenesis, Recurrent fractures, Obesity, Cleft palate, Reduced bone min... |
ORPHA:478 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... |
ORPHA:2834 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Recurrent skin infections, Scarring,... |
ORPHA:158668 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Hypospadias, Patent ductus art... |
ORPHA:1465 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Joint stiffness, Abnor... |
ORPHA:3027 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cryptorchidism, Cataract |
ORPHA:1069 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Horseshoe... |
ORPHA:3109 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... |
ORPHA:2036 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, S... |
OMIM:614188 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr... |
OMIM:136140 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p... |
OMIM:300166 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Ureteropelvic junction obstruction, Exaggerated cupid's bow, Vesicovaginal... |
OMIM:300896 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Congenital Tracheomalacia |
|
Bronchomalacia, Pneumonia, Anomalous tracheal cartilage, Tracheobronchomalacia, Pneumothorax, Par... |
ORPHA:95430 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Trismus, Thrombocytopenia, Failure to thrive, Recurrent aspiration pn... |
OMIM:230900 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad... |
ORPHA:231222 |
Icf Syndrome |
|
Abnormality of neutrophils, Protruding tongue, Micrognathia, Macroglossia, Umbilical hernia, Lymp... |
ORPHA:2268 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Tracheal... |
ORPHA:261537 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic... |
OMIM:117650 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca... |
OMIM:619638 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Patent ductus art... |
OMIM:608328 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Inguinal he... |
OMIM:278250 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ... |
OMIM:269200 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Atopic dermatitis, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
Gapo Syndrome |
|
Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Lon... |
OMIM:230740 |
Meckel Syndrome, Type 1 |
|
Micrognathia, Asplenia, Lobulated tongue, Accessory spleen, Syndactyly, Cleft upper lip, Patent d... |
OMIM:249000 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Patent ductus arteriosus, Stage 5 chro... |
OMIM:208540 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Inguinal hernia, Micro... |
OMIM:619525 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads, Clinod... |
ORPHA:363611 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Macrodactyly, Seborrheic dermatitis, 2-4 toe syndactyly, Multiple lipomas, Foot poly... |
ORPHA:276280 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3 fin... |
OMIM:603467 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Joint laxity, Sy... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Joint laxity, Sy... |
ORPHA:353277 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ectopic kidney, Patent ductus arteriosus, Short toe, Orofacial cl... |
ORPHA:1519 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ... |
OMIM:130650 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va... |
OMIM:264090 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Tracheal... |
ORPHA:261552 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Aphthous ulcer, Peritonitis, Le... |
OMIM:249100 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Renal artery aneurysm, Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomeg... |
OMIM:615688 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias... |
OMIM:259900 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnormality of the parathy... |
ORPHA:2969 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, Cardiomegaly, High, narrow palate, Abn... |
ORPHA:3472 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Tracheal... |
ORPHA:2152 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ectopic ki... |
OMIM:227650 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Recurrent urinary tract infections, Inguinal hernia, Small for gestatio... |
OMIM:613658 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Renal agenesis, Hypoplastic scapulae, Congenital diaphrag... |
OMIM:200980 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragma... |
ORPHA:199 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Knobloch Syndrome 2 |
|
Patent ductus arteriosus, Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Restrictive Dermopathy 1 |
|
Natal tooth, Ureteral duplication, Hypospadias, Limb joint contracture, Rocker bottom foot, Micro... |
OMIM:275210 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... |
OMIM:600901 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Carious teeth, Thrombocytopenia, Ure... |
OMIM:305000 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Hepatomegaly, Congenital hip dislocation, Renal agenesis, Block vertebrae, Cardiomeg... |
OMIM:306955 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Ureterocele, Vesico... |
OMIM:604292 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High pa... |
OMIM:619488 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Failure to thrive, Delayed eruption of primary teeth |
OMIM:300952 |
Aniridia And Absent Patella |
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Aniridia, Cataract |
OMIM:106220 |
Hyper-Igd Syndrome |
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Neutrophilia, Skin rash, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Hepatosplenomegal... |
OMIM:260920 |
Familial Adenomatous Polyposis 1 |
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Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids |
OMIM:175100 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Hypoplasia of penis, Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of erupt... |
ORPHA:2250 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Micrognathia, Tapered finger, Throm... |
OMIM:620005 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Ureter... |
OMIM:129900 |
Acute Generalized Exanthematous Pustulosis |
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Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... |
ORPHA:293173 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
Denys-Drash Syndrome |
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Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Deep philtrum, Uraciluria, High pala... |
ORPHA:1675 |
Fanconi Anemia, Complementation Group C |
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Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Ectopic ki... |
OMIM:227645 |
Pentalogy Of Cantrell |
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Omphalocele, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Non-midline cleft lip,... |
ORPHA:1335 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Prema... |
ORPHA:3455 |
Coffin-Siris Syndrome 1 |
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Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Prominent interphalangeal joints,... |
OMIM:135900 |
Femoral-Facial Syndrome |
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Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Humeroradial synostosi... |
OMIM:134780 |
Microphthalmia, Syndromic 3 |
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Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, Pustular rash, Ost... |
OMIM:619381 |
Fryns Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Proximal placement of thumb, Large for gestatio... |
OMIM:229850 |
Peters-Plus Syndrome |
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Ureteral duplication, Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of... |
OMIM:261540 |
Brucellosis |
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Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Hepatomegaly, Leukocytos... |
ORPHA:1304 |
Vacterl With Hydrocephalus |
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Microphthalmia, Anophthalmia |
ORPHA:3412 |
Good Syndrome |
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Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... |
ORPHA:169105 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi... |
ORPHA:2968 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Gingivitis, Periodontitis, Rectal... |
OMIM:116920 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Alveolar ridge overgrowth, Corneal sca... |
ORPHA:642 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Recurrent fractures, Splenomegaly, Oroticaciduria, Thrombocytopenia, Osteoporosis, ... |
OMIM:222700 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Horseshoe kidney,... |
OMIM:608978 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo... |
OMIM:612301 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super... |
OMIM:615948 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p... |
OMIM:300755 |
Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Astigmatism, Uro... |
OMIM:618820 |
Craniotubular Dysplasia, Ikegawa Type |
|
Short palm, Metaphyseal dysplasia, Broad femoral neck, Thick lower lip vermilion, Broad ischia, D... |
OMIM:619727 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Laryngotracheal stenosis, Recurrent pneumonia, Elbow flexion contracture, Horseshoe kidney, Dista... |
ORPHA:508533 |
Holoprosencephaly |
|
Microphthalmia, Anophthalmia |
ORPHA:2162 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Short philtrum, Conjunctivitis, Chronic otiti... |
OMIM:616268 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Hepatomegaly, Multicystic kidn... |
ORPHA:2538 |
Gardner Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke... |
ORPHA:79665 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Thyroiditis, Eruption failure, Odontoma, Lipom... |
ORPHA:733 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Downturned c... |
OMIM:619321 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocat... |
OMIM:606170 |
Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Patent ductus arteri... |
ORPHA:138 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna... |
OMIM:601803 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Ureteral duplication, Multiple joint contractures, Hypospadias, Camptoda... |
ORPHA:1662 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Holoprosencephaly 9 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Chronic... |
ORPHA:821 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Renal hypoplasia, Abnormal tracheal morphology, Camptodactyly, Tracheomalacia |
ORPHA:314679 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Flexion contracture, Hydronephrosis, Anomalous tracheal cartilage |
ORPHA:35173 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl... |
ORPHA:90340 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Clinodactyly ... |
OMIM:619522 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Cushing Disease |
|
Increased urinary cortisol level, Acne, Dorsocervical fat pad, Intra-oral hyperpigmentation, Leuk... |
ORPHA:96253 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:564 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Microcornea, H... |
ORPHA:709 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Broad hallux, Aplasia of the thymus, Micro... |
OMIM:620186 |
Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
Iniencephaly |
|
Omphalocele, Renal agenesis, Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Oro... |
ORPHA:63259 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepa... |
ORPHA:797 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Hypospadias, Renal agenesis, Congenital diaphragmatic hernia, Cleft ... |
OMIM:313850 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, Asplenia, Cleft p... |
OMIM:273395 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Congenital diaphragmatic hernia, Patent ductus arterio... |
OMIM:618280 |
Fraser Syndrome 1 |
|
Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Myhre Syndrome |
|
Skeletal muscle hypertrophy, Laryngotracheal stenosis, Generalized muscle hypertrophy, Camptodactyly |
OMIM:139210 |
Pfeiffer Syndrome |
|
Tracheal cartilaginous sleeve, Bronchomalacia |
OMIM:101600 |
Microsporidiosis |
|
Myositis, Pneumonia, Bronchitis, Urethritis, Abnormal tracheal morphology, Bronchiolitis, Nephritis |
ORPHA:2552 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Patent ductus arteriosus, Subm... |
OMIM:235730 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Charge Syndrome |
|
Microphthalmia, Anophthalmia, Unilateral microphthalmos |
OMIM:214800 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes... |
ORPHA:649 |
Limb-Mammary Syndrome |
|
Absent nipple, Chronic irritative conjunctivitis, Primary amenorrhea, Bilateral breast hypoplasia... |
ORPHA:69085 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Cleft upper lip, Hypoplasia of the... |
OMIM:164210 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Glomuvenous Malformation |
|
Abnormal tracheal morphology |
ORPHA:83454 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ... |
OMIM:194190 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse... |
OMIM:130050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Cognitive impairment, Uterine rupture, Uterine prolapse |
ORPHA:286 |