| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Mounier-Kühn Syndrome |
|
Bronchitis, Tracheobronchmegaly, Recurrent bronchopulmonary infections, Pneumonia, Recurrent resp... |
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 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Tracheal atresia |
OMIM:601612 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Tracheal Agenesis |
|
Tracheal atresia, Aplasia/Hypoplasia of the lungs |
ORPHA:3346 |
| Regional Odontodysplasia |
|
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... |
ORPHA:83450 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Dentinogenesis Imperfecta |
|
Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele... |
ORPHA:49042 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
| Tracheobronchopathia Osteochondroplastica |
|
Abnormal tracheobronchial morphology, Atelectasis, Abnormal bronchus morphology, Bronchitis, Calc... |
ORPHA:3348 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Amelogenesis Imperfecta |
|
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... |
ORPHA:88661 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia |
OMIM:190320 |
| Dentin Dysplasia, Type I |
|
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... |
OMIM:125400 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... |
ORPHA:166277 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
| Amelogenesis Imperfecta, Type Ij |
|
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... |
OMIM:617297 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Short philtrum, Delayed eruption of teeth, Osteoporosis, Dentinogenesis imperfecta, Cone-shaped e... |
ORPHA:71267 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Osteogenesis Imperfecta, Type Xxii |
|
Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac... |
OMIM:619795 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten... |
OMIM:610967 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hypermobili... |
OMIM:301014 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... |
OMIM:613849 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:184260 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Otodental Dysplasia |
|
Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi... |
OMIM:166750 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia |
OMIM:104530 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition |
ORPHA:1094 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Intermediate Osteopetrosis |
|
Anemia, Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality... |
ORPHA:210110 |
| Odontochondrodysplasia |
|
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi... |
ORPHA:166272 |
| Cranioectodermal Dysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Osteogenesis Imperfecta, Type Xiii |
|
Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, Wide distal fem... |
OMIM:614856 |
| Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Multiple prenatal fractures, Short lower limbs, Dentinogenesis ... |
OMIM:259440 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Anophthalmia |
OMIM:611638 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| X-Linked Hypophosphatemia |
|
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... |
ORPHA:89936 |
| Otodental Syndrome |
|
Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d... |
ORPHA:2791 |
| Jung Syndrome |
|
Recurrent respiratory infections, Tracheal stenosis |
ORPHA:2321 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Tricho-Dento-Osseous Syndrome |
|
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... |
ORPHA:3352 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
| Oligodontia |
|
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... |
ORPHA:99798 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
| Tooth Agenesis, Selective, 9 |
|
Selective tooth agenesis, Microdontia, Taurodontia |
OMIM:617275 |
| Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Increased bone dens... |
OMIM:136300 |
| Pyle Disease |
|
Limited elbow extension, Reduced bone mineral density, Genu valgum, Delayed eruption of teeth, Ma... |
OMIM:265900 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Tracheal stenosis |
ORPHA:93941 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Abnormal femur morphology, Discoid lupu... |
ORPHA:166119 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... |
ORPHA:1802 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Short long bone, Tooth agenesis, Joint hypermobility, Coxa valga, Inguinal hernia, Small epiphyse... |
OMIM:618363 |
| 48,Xxyy Syndrome |
|
Chronic otitis media, Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulde... |
ORPHA:10 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal metaphysis morphology, Genu valgum, Anemia, Abnormal metacarpal morphology, Arthritis, R... |
ORPHA:53 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of... |
OMIM:619269 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Tracheal stenosis |
OMIM:601427 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Hepatomegaly, Calvarial osteosclerosis, Anemia, Flared metaphysis,... |
OMIM:259700 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Recurrent sinusitis, Calcification of cartilage, Tracheal atresia, Rec... |
ORPHA:85202 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Abnormality of the dentition, Bowin... |
ORPHA:2501 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Tibial bowing, Decreased calvarial ossification, Multiple prenatal fractures, ... |
OMIM:259420 |
| Hall-Riggs Syndrome |
|
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Osteopo... |
OMIM:234250 |
| Sclerosteosis |
|
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas... |
ORPHA:3152 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hypermobility, Delayed eruption of teeth, Short middle phalanx of the 5... |
ORPHA:63442 |
| Osteogenesis Imperfecta, Type Vi |
|
Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Bowing of the leg... |
OMIM:613982 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, An... |
OMIM:259710 |
| Pendred Syndrome |
|
Nephropathy, Tracheal stenosis |
ORPHA:705 |
| Florid Cemento-Osseous Dysplasia |
|
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... |
ORPHA:83451 |
| Trichodental Dysplasia |
|
Hypodontia, Odontodysplasia, Conical tooth |
OMIM:601453 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Inguinal hernia, Tibial bowing, Nephrolithia... |
OMIM:613848 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Reduced bone mineral density, Microdontia, Coronal craniosynostosis, Micrognathia, De... |
OMIM:112240 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Incre... |
ORPHA:85188 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bone morphology, Thin upper l... |
ORPHA:2512 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis, Broad jaw |
ORPHA:178377 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Anemia, Scarring alopecia of scalp, Punctate keratitis, Enamel hypoplasia, Carious teeth, Keratit... |
OMIM:226670 |
| Amelogenesis Imperfecta, Type Ic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204650 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia |
OMIM:104510 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Stillbirth, Abnormal hip bone morphology, Renal agenesis, Cleft palate, Upper limb p... |
ORPHA:294975 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... |
OMIM:611548 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Atrophic scars, Enamel hypoplasia, Carious teeth, Oral mucosal bli... |
ORPHA:79405 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... |
OMIM:619203 |
| Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Broad distal phalanx of finger, Broad phalanx of the toes, Cutaneous finge... |
OMIM:614378 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Dentinogenesis Imperfecta 1 |
|
Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta |
OMIM:125490 |
| Pseudopseudohypoparathyroidism |
|
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, O... |
OMIM:612463 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Hepatomegaly, Unilateral renal agenesis, Patent ductus arteriosus, Pancytopenia, Pr... |
OMIM:614576 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Unilateral renal agenesis, Short philtrum, High palate, Failure to thrive, ... |
OMIM:609757 |
| 48,Xyyy Syndrome |
|
Thick lower lip vermilion, Dislocated radial head, Abnormal renal morphology, High palate, Enamel... |
ORPHA:99329 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Chondritis, Abno... |
ORPHA:564003 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Coxa vara, Protrusio acetabuli, Dentinogenesis imperfecta, Joint hypermobility, Recur... |
OMIM:610968 |
| 48,Xxxy Syndrome |
|
Chronic otitis media, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth,... |
ORPHA:96263 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters |
OMIM:226650 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal femoral head morphology, Microdontia, Hypoplastic pelvis, Lymphopenia, Stage 5 chronic k... |
ORPHA:1830 |
| Pfeiffer-Palm-Teller Syndrome |
|
Joint stiffness, Enamel hypoplasia |
ORPHA:2871 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... |
ORPHA:261529 |
| Tracheobronchomegaly |
|
Bronchiectasis, Diverticulosis of trachea, Recurrent bronchopulmonary infections, Death in infancy |
OMIM:275300 |
| Osteogenesis Imperfecta, Type Iv |
|
Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Dentinoge... |
OMIM:166220 |
| Emanuel Syndrome |
|
Congenital diaphragmatic hernia, Chronic oral candidiasis, Recurrent otitis media, Unilateral ren... |
OMIM:609029 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Lambdoidal craniosynostosis, Narrow iliac wing, High palate, Coronal craniosynostosis... |
OMIM:616294 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Carious teeth, Velopharyngeal insu... |
OMIM:613680 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Hurler-Scheie Syndrome |
|
Dermatan sulfate excretion in urine, Camptodactyly of finger, Thenar muscle atrophy, Contracture ... |
OMIM:607015 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ... |
ORPHA:2972 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Retrognathia, Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Thin lower lip v... |
ORPHA:363444 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Short middle phalanx of the 5th finger, Carious teeth, Cutaneous finger syndactyly, Flexion contr... |
OMIM:203550 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Inguinal hernia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowi... |
OMIM:610915 |
| Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... |
ORPHA:90650 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Secondary amenorrhea, ... |
OMIM:612964 |
| Majeed Syndrome |
|
Cachexia, Pustule, Splenomegaly, Metaphyseal irregularity, Congenital hypoplastic anemia, Abnorma... |
ORPHA:77297 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Metacarpal synostosis, Renal ag... |
OMIM:212780 |
| Burn-Mckeown Syndrome |
|
Thin vermilion border, Unilateral renal agenesis, Short philtrum, Inguinal hernia, Mandibular pro... |
OMIM:608572 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Enamel hypoplasia, Failure to thrive, Carious teeth, Syndactyly |
OMIM:226700 |
| Smith-Magenis Syndrome |
|
Chronic otitis media, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Short philtrum, M... |
ORPHA:819 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Retrognathia, Dental crowding, Leukopenia, Syndactyly, Umbilical hernia, Joint hypermobility, Lon... |
OMIM:620654 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Preaxial polydactyly, Unilateral renal agenesis, High palate, Bilateral talipes equ... |
OMIM:618142 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Recurrent respiratory infections, Abnormal tracheobronchial morphology, Trachea... |
ORPHA:1790 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Momo Syndrome |
|
Large for gestational age, Abnormal bone ossification, Thick lower lip vermilion, Delayed eruptio... |
ORPHA:2563 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Dentinogenesis imperfecta, Hip dysplasia, Joint hypermobility, Finger... |
OMIM:166200 |
| Pycnodysostosis |
|
Hypoplastic iliac wing, Mesomelia, Joint hypermobility, Delayed eruption of primary teeth, Short ... |
ORPHA:763 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Camurati-Engelmann Disease |
|
Genu valgum, Anemia, Diaphyseal sclerosis, Increased bone mineral density, Mandibular prognathia,... |
OMIM:131300 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... |
OMIM:619834 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
ORPHA:79406 |
| Osteogenesis Imperfecta, Type Xvii |
|
Reduced bone mineral density, Thin metacarpal cortices, Bowed humerus, Osteoporosis, Thin long bo... |
OMIM:616507 |
| 49,Xxxxy Syndrome |
|
Chronic otitis media, Renal hypoplasia/aplasia, Clinodactyly of the 5th finger, Talipes equinovar... |
ORPHA:96264 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Short metatarsal, Delayed eruption of teeth, Epiphyseal stippling, Con... |
OMIM:101800 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... |
OMIM:166600 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization |
OMIM:614832 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi... |
OMIM:144750 |
| Brittle Cornea Syndrome 1 |
|
Joint hypermobility, Atypical scarring of skin, Dentinogenesis imperfecta, Congenital hip disloca... |
OMIM:229200 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia |
OMIM:615113 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Decreased fibular diameter, ... |
OMIM:619489 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis |
OMIM:620183 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... |
OMIM:233420 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J... |
ORPHA:2485 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures |
OMIM:166260 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Abnormal dental enamel morphology, Episodic hemolytic anemia, Obesity, Macroscop... |
ORPHA:251004 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Rocker bottom foot, Everted upper lip vermilion, Unilateral renal agenesis, Short philtrum, Sanda... |
OMIM:619951 |
| Ck Syndrome |
|
Retrognathia, Abnormal cortical bone morphology, Dental crowding, High palate, Abnormal digit mor... |
OMIM:300831 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Amelogenesis imperfecta, Diaphyseal dysplasia, Hepatomegaly, Hemolytic-uremic syndrome, Osteoporo... |
OMIM:614727 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Skin rash, Calvarial hyperostosis, Anemia of inadequate production, Fai... |
OMIM:612714 |
| Congenital Syphilis |
|
Myocarditis, Periostitis, Pancreatitis, Anemia, Maculopapular exanthema, Tibial bowing, High pala... |
ORPHA:499009 |
| Emanuel Syndrome |
|
Congenital diaphragmatic hernia, Recurrent otitis media, Unilateral renal agenesis, Broad jaw, To... |
ORPHA:96170 |
| Nager Syndrome |
|
Abnormal palate morphology, Hypoplasia of the radius, Triphalangeal thumb, Unilateral renal agene... |
ORPHA:245 |
| Dysosteosclerosis |
|
Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b... |
ORPHA:1782 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Abnormality of the urethra, Ectopic kidney, Hypospadias, Hypopla... |
ORPHA:887 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Crani... |
OMIM:122860 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, Femoral bowi... |
OMIM:277440 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Fibular bowing, Generalized aminoaciduria, Delayed eruption of teeth, Delayed epiphyseal... |
OMIM:264700 |
| Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized... |
ORPHA:1423 |
| Familial Expansile Osteolysis |
|
Fragile teeth, Premature loss of teeth, Bowing of the long bones, Thin bony cortex, Hydroxyprolin... |
OMIM:174810 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal lung lobation, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Tracheal s... |
ORPHA:3301 |
| Pycnodysostosis |
|
Narrow palate, Absent frontal sinuses, Increased bone mineral density, Narrow iliac wing, Osteoly... |
OMIM:265800 |
| Fraser Syndrome 3 |
|
Abnormal lung lobation, Stillbirth, Hypoplasia of penis, Ureteral agenesis, Tracheal atresia |
OMIM:617667 |
| Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog... |
ORPHA:3019 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Anemia, Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular ... |
ORPHA:2325 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Enamel hypoplasia, Renal tubul... |
OMIM:618349 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Snijders Blok-Campeau Syndrome |
|
Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Joint hyp... |
OMIM:618205 |
| Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... |
ORPHA:566943 |
| Specific Granule Deficiency 2 |
|
Amelogenesis imperfecta, Osteopenia, Recurrent otitis media, Anemia, Sandal gap, Conical tooth, T... |
OMIM:617475 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Short philtrum, Cleft palate, Pierre-Robin sequence, Smooth philtrum, ... |
OMIM:619504 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Renal phosphate wasting, Delayed eruption of teeth, R... |
ORPHA:289176 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
| Hypertrichosis Lanuginosa Congenita |
|
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2222 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Delayed eruption of teeth, Increased body weight, Omphalocele, Congenital hip dislocation... |
OMIM:614450 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth, Brachydactyly, Abnormal epiphysis morphology, Neu... |
ORPHA:2643 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Subperiosteal bone formation, Hyperostosis, Ename... |
OMIM:211900 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Increased susceptibility to fractures, Hepatomegaly, Generalized aminoaciduria, Delayed ... |
ORPHA:289157 |
| Lowry-Maclean Syndrome |
|
Craniosynostosis, Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
| Dysostosis, Stanescu Type |
|
Abnormal metaphysis morphology, Abnormal palate morphology, Increased bone mineral density, Abnor... |
ORPHA:1798 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Carious teeth, Hepatitis, Thick vermilion border |
ORPHA:363523 |
| Momo Syndrome |
|
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short sternum, Obesity, Large ... |
OMIM:157980 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping fingers, High, narrow palate, Recurrent otitis media, Unilateral renal agenesis, Join... |
OMIM:618494 |
| Takenouchi-Kosaki Syndrome |
|
Widely spaced teeth, Hypospadias, Short philtrum, Inguinal hernia, Unilateral renal agenesis, Pro... |
OMIM:616737 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Failure to thrive, Micrognathia, Unilateral renal agenesis |
ORPHA:52047 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, Unilateral renal agenesis, Short philtrum, 2-3 toe syndactyly, Hi... |
ORPHA:3306 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia, Thin upper lip vermilion, Syndactyly |
OMIM:613576 |
| Pseudohypoparathyroidism Type 1B |
|
Low urinary cyclic AMP response to PTH administration, Delayed eruption of teeth, Increased bone ... |
ORPHA:94089 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:2027 |
| Aredyld Syndrome |
|
Lipoatrophy, Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental... |
ORPHA:1133 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal agenesis, Bilateral cleft pala... |
OMIM:614900 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Flared metaphysis, Squared iliac bones, Micromelia, Micrognathia, Advanced tarsal oss... |
OMIM:215045 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... |
OMIM:615285 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Renal agenesis, Cleft upper lip, Micrognathia, Cleft p... |
OMIM:601076 |
| Mulibrey Nanism |
|
Hepatomegaly, Thickened cortex of long bones, Cardiomegaly, Absent frontal sinuses, Dental crowdi... |
OMIM:253250 |
| Pseudohypoparathyroidism, Type Ia |
|
Short finger, Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed er... |
OMIM:103580 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Large for gestational age, Enlarged kidney, Inguinal hernia, Micrognathia, Umbilical hernia, Neph... |
OMIM:618272 |
| Diastrophic Dysplasia |
|
Abnormal metaphysis morphology, Short finger, Proximal placement of thumb, Abnormal metacarpal mo... |
ORPHA:628 |
| Melnick-Needles Syndrome |
|
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... |
ORPHA:2484 |
| Dysosteosclerosis |
|
Broad femoral neck, Absent paranasal sinuses, Clavicular sclerosis, Abnormal metaphyseal trabecul... |
OMIM:224300 |
| Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Microdontia, Tooth agenesis, Micrognathia, Short ... |
ORPHA:633 |
| Granulomatosis With Polyangiitis |
|
Pleuritis, Localized pulmonary hemorrhage, Elevated bronchoalveolar lavage fluid neutrophil propo... |
OMIM:608710 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Renal hypoplasia/aplasia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph... |
ORPHA:2863 |
| Branchioskeletogenital Syndrome |
|
Upper limb peromelia, Ureteral stenosis, Bifid uvula, Umbilical hernia, Craniosynostosis, Short p... |
ORPHA:1299 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... |
ORPHA:1077 |
| Eiken Syndrome |
|
Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M... |
OMIM:600002 |
| Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:616221 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Nephrolithiasis, Hypodontia, Shagree... |
ORPHA:1816 |
| Catifa Syndrome |
|
Inguinal hernia, Delayed eruption of teeth, Tooth malposition, Increased overbite, Camptodactyly,... |
OMIM:618761 |
| Frank-Ter Haar Syndrome |
|
Acne, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Short philtrum, Delayed eru... |
ORPHA:137834 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta,... |
ORPHA:536467 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Hematuria, Anemia, Arthritis, Persistence of primary teeth, Proteinuria, Renal in... |
ORPHA:375 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Recurrent otitis media, Hypospadias, Conical tooth, Narrow mouth, M... |
OMIM:129400 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Abnormal femoral neck/head morphology, Increased bone mineral density... |
ORPHA:163649 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat... |
ORPHA:2260 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H... |
ORPHA:2025 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... |
OMIM:612885 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Abnormality of the dentition, Carious teeth, Radioulnar synostosis, M... |
ORPHA:3270 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Stomatitis, Glossitis, Skin rash, Megaloblastic anemia, Failure to thr... |
ORPHA:79284 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, Tented upper lip vermilion, Open ... |
OMIM:616362 |
| Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth, Gingival fibromatosis |
ORPHA:2026 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Supernumerary tooth, Agenesis of molar, Hypospadias, Bicoronal synostosis, Microdonti... |
OMIM:619718 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti... |
ORPHA:2228 |
| Osteogenesis Imperfecta |
|
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated... |
ORPHA:666 |
| Braddock-Carey Syndrome 1 |
|
Talipes equinovarus, Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Pierre-Robin ... |
OMIM:619980 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Short tubular bones of the hand, Abnormal diaphysis morphology, Obtuse angle of mandi... |
ORPHA:85184 |
| Oculodentodigital Dysplasia |
|
Vertebral hyperostosis, Joint contracture of the 5th finger, Broad alveolar ridges, Premature los... |
OMIM:164200 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Rhizomelia, Crumpled long bones, Femoral retroversion, Micromelia, Decreased calvaria... |
OMIM:610682 |
| Oculodentodigital Dysplasia |
|
Broad alveolar ridges, Tooth agenesis, Umbilical hernia, Clinodactyly, Taurodontia, Cranial hyper... |
ORPHA:2710 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Anterior tibial bowing, Calvarial hyperostosis, Lateral femoral bowing, Squared i... |
OMIM:112350 |
| 17Q11.2 Microduplication Syndrome |
|
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening |
ORPHA:139474 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Fl... |
OMIM:612350 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hypercalciuria, Premature loss of teeth, Increased urine deoxypyridinoline level, Inc... |
OMIM:239000 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita |
OMIM:217150 |
| Gorham-Stout Disease |
|
Mandibular pain, Abnormal ethmoid bone morphology, Abnormal bone ossification, Osteopenia, Abnorm... |
ORPHA:73 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, High palate, Obesity, Hydronephrosis, Long philtrum, Joint hypermobili... |
OMIM:620511 |
| Hypophosphatasia, Childhood |
|
Elevated urine pyrophosphate, Carious teeth, Premature loss of primary teeth, Craniosynostosis, P... |
OMIM:241510 |
| Pseudohypoparathyroidism, Type Ic |
|
Low urinary cyclic AMP response to PTH administration, Short metatarsal, Delayed eruption of teet... |
OMIM:612462 |
| Nance-Horan Syndrome |
|
Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing... |
OMIM:302350 |
| Kohlschutter-Tonz Syndrome |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:226750 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Short long bone, Ureteral atresia, Patent du... |
OMIM:618845 |
| Caffey Disease |
|
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... |
OMIM:114000 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enlarged kidney, Tubulointerstitial fibrosis, Chronic neutropenia, Nephrocalcinosis, Stage 5 chro... |
ORPHA:79259 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
| Shashi-Pena Syndrome |
|
Retrognathia, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short metacarpal, Osteo... |
OMIM:617190 |
| Proteus Syndrome |
|
Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Cereb... |
OMIM:176920 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis, Increased overbite |
OMIM:618504 |
| Localized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl... |
ORPHA:251393 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... |
ORPHA:1916 |
| Amelogenesis Imperfecta, Type If |
|
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Thin vermilion border, Second metatarsal posteriorly placed, Delayed eruption... |
OMIM:214150 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Cleft palate, Unilateral renal agenesis |
OMIM:601355 |
| Brachydactyly, Type E2 |
|
Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly |
OMIM:613382 |
| 12Q14 Microdeletion Syndrome |
|
Thin vermilion border, Clinodactyly of the 5th finger, Ectopic kidney, Osteopoikilosis, Failure t... |
ORPHA:94063 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Inguinal hernia, Craniosynostosis, Tooth agenesis, Multip... |
ORPHA:2645 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Tracheal stenosis |
OMIM:617809 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Chronic otitis media, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Jo... |
ORPHA:534 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Hypophosphatasia, Adult |
|
Rickets, Pathologic fracture, Carious teeth, Premature loss of primary teeth, Osteomalacia, Prema... |
OMIM:146300 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, Neutropenia, Joint hypermobility, Chronic mucocutaneous candidiasis, High pa... |
OMIM:619752 |
| Raine Syndrome |
|
Subperiosteal bone formation, Microdontia, Wide mouth, Increased bone mineral density, Micromelia... |
OMIM:259775 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Reduced bone mineral density, Microdontia, Joint hypermobility, Hernia, Neutrope... |
OMIM:617052 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Anemia, Ectopic kidney, Truncal obesity, Inguinal hernia, Tooth malposition, Unilateral renal age... |
OMIM:616541 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption, Umbilical hernia |
OMIM:606893 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Slender long bone, Tapered finger, Failure to thrive, Mi... |
ORPHA:444072 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cleft upper lip, Cleft palate, Finger joint hypermobility, Micropenis |
OMIM:244200 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Osteopetrosis, Delayed eruptio... |
ORPHA:2780 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... |
OMIM:618841 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheomalacia, Hypospadias, Tracheal stenosis |
OMIM:217980 |
| Orofaciodigital Syndrome Type 2 |
|
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... |
ORPHA:2751 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal bronchus morphology, Tracheal stenosis |
ORPHA:93352 |
| Eec Syndrome |
|
Renal hypoplasia/aplasia, Proximal placement of thumb, Inflammatory abnormality of the eye, Micro... |
ORPHA:1896 |
| Seckel Syndrome 5 |
|
Retrognathia, Clinodactyly of the 5th finger, Hypospadias, Oligodontia, Selective tooth agenesis,... |
OMIM:613823 |
| Otopalatodigital Syndrome Type 2 |
|
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Fibular aplasia, Tarsal ... |
ORPHA:90652 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Distal ren... |
OMIM:259730 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormal bronchus morphology, Pulmonary artery stenosis, Recurrent respiratory infections, Trache... |
ORPHA:79345 |
| Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Laryngotracheal stenosis, Tracheoesophageal fistula, Neoplas... |
ORPHA:142 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Increased bone mineral density, Arthritis, Skin rash, Leukocytosis, Splenom... |
ORPHA:37748 |
| Hydrolethalus |
|
Tracheal atresia |
ORPHA:2189 |
| Oculoskeletodental Syndrome |
|
Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia, Hypoplas... |
ORPHA:557003 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Genu valgum, Prominent median palatal raphe, Exaggerated median tongue... |
OMIM:300602 |
| Cleft Lip/Palate |
|
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... |
ORPHA:199306 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Downturned corners of mouth, Micrognathia, Unilateral renal agenesis, Craniosynostosis |
ORPHA:1064 |
| Grant Syndrome |
|
Abnormal palate morphology, Abnormal cortical bone morphology, Open bite, Decreased skull ossific... |
ORPHA:2097 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... |
OMIM:620099 |
| Filippi Syndrome |
|
Thin vermilion border, Finger clinodactyly, Short philtrum, Serrated incisors, Decreased body wei... |
OMIM:272440 |
| Seckel Syndrome 1 |
|
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Cone-shaped epiphyses of the phalanges o... |
OMIM:210600 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Increase... |
OMIM:113650 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microdontia, Short distal phalanx of finger,... |
OMIM:210720 |
| Dyskeratosis Congenita |
|
Hepatomegaly, Anemia, Periodontitis, Abnormality of the dentition, Osteoporosis, Hypoplasia of th... |
ORPHA:1775 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Tracheal calcification, Tracheal stenosis |
OMIM:302960 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth |
ORPHA:3196 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... |
OMIM:194072 |
| Primary Hyperoxaluria |
|
Hematuria, Aciduria, Calcium oxalate nephrolithiasis, Hypercalciuria, Rootless teeth, Hyperoxalur... |
ORPHA:416 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Widely spaced teeth, Clinodactyly of the 5th finger, Hypospadias, Short philtrum, Patent ductus a... |
OMIM:619293 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Unilateral renal agenesis, Clinodactyly of the 2nd finger, ... |
ORPHA:221139 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis, Clinodactyly of the 5th finger, Increased bone mineral density, Decreased body wei... |
OMIM:617306 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, 4-5 toe syndactyly, Enamel hypo... |
OMIM:613573 |
| Dermatitis Herpetiformis |
|
Delayed eruption of teeth, Eczematoid dermatitis, Microcytic anemia, Dental enamel pits, Erosion ... |
ORPHA:1656 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Proximal placement of thumb, Wide mouth, Long philtrum, Overlapping toe, Clinodactyly, Hypospadia... |
ORPHA:487796 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Hip contracture, Laryngotracheal stenosis |
OMIM:222600 |
| Cleidocranial Dysplasia |
|
Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m... |
ORPHA:1452 |
| Diaphanospondylodysostosis |
|
Absent in utero rib ossification, Enlarged kidney, Hammertoe, Inguinal hernia, Talipes equinovaru... |
OMIM:608022 |
| Orofaciodigital Syndrome Type 5 |
|
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... |
ORPHA:2919 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits, Scarring alopecia of scalp |
OMIM:619787 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... |
OMIM:119600 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ... |
OMIM:619797 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth |
OMIM:183300 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Scarring alopecia of scalp, Folliculitis, Enamel hypoplasia, Carious teeth, Blepharitis, Keratiti... |
OMIM:612843 |
| Brachydactyly, Type B1 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... |
OMIM:113000 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Bifid uvula, Wide mouth, Symphalangism affecting the phalanges of the... |
ORPHA:2658 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... |
ORPHA:325124 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... |
OMIM:613496 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth |
OMIM:141300 |
| Hall-Riggs Syndrome |
|
Abnormal metaphysis morphology, Delayed eruption of teeth, Abnormal dental enamel morphology, Joi... |
ORPHA:2107 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis |
ORPHA:970 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Hamamy Syndrome |
|
Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Craniosynostosis, Long toe, I... |
OMIM:611174 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, Overjet, Thick lower lip vermilion, Hepatomegaly, Short philtrum, Dental crowding, ... |
OMIM:618342 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... |
OMIM:273250 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... |
ORPHA:363417 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Genu valgum, Flared metaphysis, Dental crowding, Mandibular prognathia, High palate, ... |
OMIM:269300 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Absent toe, Hypoplastic pelvis, Syndactyly, Umbilical hernia, 4-5 toe syndactyly, Stillbirth, Apl... |
OMIM:308050 |
| Celiac Disease, Susceptibility To, 1 |
|
Rickets, Recurrent aphthous stomatitis, Macrocytic anemia, Iron deficiency anemia, Stomatitis, Th... |
OMIM:212750 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia, Thrombocytopenia, Deep philtrum |
ORPHA:1237 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, High palate, Unilateral renal agenesis, Micropenis |
OMIM:308750 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Retrognathia, Chronic otitis media, Joint hypermobility, Cranios... |
ORPHA:96121 |
| Desmosterolosis |
|
Retrognathia, Osteopetrosis, Renal hypoplasia/aplasia, Increased bone mineral density, Narrow mou... |
ORPHA:35107 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Cleft pala... |
OMIM:118100 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Clubbing, Flared iliac wing, Leukopenia, Splenomegaly, Neutropenia, Focal segmen... |
OMIM:617303 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... |
OMIM:313500 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Camptodactyly of finger, Large h... |
ORPHA:3220 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Genu valgum, Medullary nephrocalcinosis, Hypoplasia of teeth, Carious t... |
OMIM:613312 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Cranial hyperostosis, Osteopetrosis, Hip subluxation, Hepatomegaly, Anemia, Flared me... |
OMIM:259720 |
| Potocki-Shaffer Syndrome |
|
Anemia, Short philtrum, Decreased skull ossification, Downturned corners of mouth, Micrognathia, ... |
ORPHA:52022 |
| Cerebellofaciodental Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Tapered finger, Proximal femoral ... |
OMIM:616202 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Tracheal stenosis |
ORPHA:2637 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... |
OMIM:170390 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Hypospadias, Bicoronal synostosis, Dental crowding, Oligodontia, Short long bone, Tracheobronchom... |
OMIM:619184 |
| Intellectual Disability And Myopathy Syndrome |
|
Limited elbow extension, Incisor macrodontia, Atopic dermatitis, Congenital hip dislocation, Achi... |
OMIM:619719 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Reduced bone mineral density, Skin rash, Microdontia, Neutropenia, Hypoplasia of... |
ORPHA:2909 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Chronic otitis media, Osteopenia, Craniosynostosis, Delayed eruption of teeth, Skin rash, Gingivi... |
ORPHA:2314 |
| Cockayne Syndrome Type 2 |
|
Scarring, Hypoplasia of the primary teeth, Hepatomegaly, Mandibular prognathia, Uveitis, Enamel h... |
ORPHA:90322 |
| Larsen-Like Syndrome, Lethal Type |
|
Pulmonary hypoplasia, Neonatal death, Abnormal cartilage matrix, Tracheomalacia |
OMIM:245650 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Pseudohypoparathyroidism Type 1C |
|
Short 4th metacarpal, Low urinary cyclic AMP response to PTH administration, Short metatarsal, De... |
ORPHA:79444 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Isolated Agammaglobulinemia |
|
Clinodactyly of the 5th toe, Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, S... |
ORPHA:229717 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... |
ORPHA:93101 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Rocker bottom foot, Retrognathia, 3-Methylglutaconic aciduria, Hepatomegaly, Camptodactyly, Failu... |
OMIM:604273 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia, Abnormality of the gingiva |
ORPHA:517 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Hepatomegaly, Delayed eruption of teeth, Dental crowding, High palate, Camptodactyly, Clinodactyl... |
OMIM:616354 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia |
ORPHA:3214 |
| Acrofacial Dysostosis 1, Nager Type |
|
Congenital diaphragmatic hernia, Retrognathia, Radial deviation of finger, Temporomandibular join... |
OMIM:154400 |
| Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased... |
OMIM:614592 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Hypospadias, Delayed eruption of teeth, High palate, Everted lowe... |
OMIM:619736 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Acrofacial Dysostosis, Weyers Type |
|
Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi... |
ORPHA:952 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent... |
OMIM:613684 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Wide mouth, Thick ve... |
OMIM:618506 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Anemia, Mitten deformity, Atrophic scars, Carious teeth, Urethral ... |
ORPHA:79409 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Hypo... |
OMIM:612651 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve... |
OMIM:601957 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Cleft upper lip, Cleft palate, Hyperec... |
OMIM:613885 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Umbilical hernia, Genu varu... |
OMIM:201000 |
| Coach Syndrome 1 |
|
Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Postaxial hand polydactyly, Renal cyst... |
OMIM:216360 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Leukopenia, Thro... |
OMIM:619151 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u... |
ORPHA:432 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Limited elbow extension, Thin vermilion border, Unilateral renal agenesis, Accessory spleen, Hypo... |
OMIM:618419 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Anemia, Mitten deformity, Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flex... |
OMIM:226600 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Splenomega... |
OMIM:252500 |
| Camurati-Engelmann Disease |
|
Abnormal femur morphology, Cachexia, Leukopenia, Splenomegaly, Craniofacial osteosclerosis, Coxa ... |
ORPHA:1328 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Anemia, Aplasia/Hypopla... |
ORPHA:337 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Retrognathia, Ankle flexion contracture, Severe failure to thrive, Abnormal renal collecting syst... |
ORPHA:468631 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Hypophosphatasia |
|
Abnormal metaphysis morphology, Anemia, Craniosynostosis, Abnormality of the dentition, Bowing of... |
ORPHA:436 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Thin vermilion border, Renal hypoplasia/aplasia, Anemia, Hypospadias, Sandal gap, Hypoplasia of p... |
ORPHA:1046 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,... |
ORPHA:1193 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Inguinal hernia, Pos... |
OMIM:213980 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hallux valgus, Gingival overgrowth, Camptodactyly, Ch... |
ORPHA:168569 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| Metatropic Dysplasia |
|
Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger... |
ORPHA:2635 |
| Nail-Patella Syndrome |
|
Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t... |
ORPHA:2614 |
| Heimler Syndrome 1 |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:234580 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Thin vermilion border, Hypospadias, Patent ductus arteriosus, Bowing of the long bones, Renal age... |
ORPHA:171839 |
| Eem Syndrome |
|
Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno... |
ORPHA:1897 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Failure to ... |
OMIM:618874 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... |
OMIM:618188 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of p... |
OMIM:618727 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Cachexia, Everted lower lip vermilion, Wrist flexion contracture, Abn... |
ORPHA:800 |
| Immunodeficiency 33 |
|
Hypodontia, Delayed eruption of teeth, Conical tooth |
OMIM:300636 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... |
ORPHA:1028 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Retrognathia, Broad distal phalanx of finger, Hydroureter, Unilateral renal agenesis, Genu valgum... |
OMIM:619194 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Delayed eruption of teeth, Cachexia, Everted lower lip vermilion... |
ORPHA:884 |
| Atelis Syndrome 1 |
|
Anemia, High palate, Eczematoid dermatitis, Bronchiectasis, Carious teeth, Leukopenia, Thrombocyt... |
OMIM:620184 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal femur, Facial... |
OMIM:218400 |
| Igg4-Related Thyroid Disease |
|
Tracheal stenosis |
ORPHA:64744 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... |
OMIM:311300 |
| Cockayne Syndrome Type 1 |
|
Scarring, Hypoplasia of the primary teeth, Hepatomegaly, Anemia, Foot joint contracture, Mandibul... |
ORPHA:90321 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal metaphysis morphology, Osteolysis, Anemia, Hyperostosis, Arthritis, Skin rash, Abnormal ... |
ORPHA:324964 |
| Trichorhinophalangeal Syndrome, Type I |
|
Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of the hand, Long ... |
OMIM:190350 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... |
ORPHA:93284 |
| Blomstrand Lethal Chondrodysplasia |
|
Rhizomelia, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping, Short metacar... |
ORPHA:50945 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Anemia, Premature loss of teeth, Gingivitis, Splenomegaly, Recurrent fr... |
OMIM:618107 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Aarskog-Scott Syndrome |
|
Orofacial cleft, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Fing... |
ORPHA:915 |
| Temple-Baraitser Syndrome |
|
Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t... |
ORPHA:420561 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,... |
ORPHA:181 |
| Acrodysostosis |
|
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... |
ORPHA:950 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Delayed eruption of permanent teeth, Nephrotic syndrome, Protei... |
ORPHA:839 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypoplastic ischia, Coro... |
ORPHA:313855 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Fused cervical vertebrae, Unilateral renal agenesis, Renal agenesis, Submucous clef... |
OMIM:619227 |
| Chromosome 17Q12 Deletion Syndrome |
|
Retrognathia, Urethral stenosis, Long toe, Stage 5 chronic kidney disease, Abnormal upper lip mor... |
OMIM:614527 |
| Codas Syndrome |
|
Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology, Short metacarpal, Abno... |
ORPHA:1458 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Dental crowding, Persistence of hemoglobin F, Persistence of primary te... |
OMIM:619769 |
| Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia, Natal tooth, Patent ductus arteriosus |
ORPHA:99811 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Femoral bowing, Short long bone, Absent tibia, Cone-shaped epiphysis, Hypoplasia... |
OMIM:613091 |
| Caffey Disease |
|
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... |
ORPHA:1310 |
| Acrootoocular Syndrome |
|
Supernumerary tooth, Grayish enamel, High, narrow palate, Short finger, Dental malocclusion, Dela... |
ORPHA:2980 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contracture, Broad metata... |
OMIM:259600 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of... |
ORPHA:1486 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela... |
ORPHA:93346 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth |
OMIM:125350 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Renal p... |
OMIM:307800 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, High palate, Unilateral renal agenesis, Micropenis |
OMIM:308700 |
| Sulfite Oxidase Deficiency, Isolated |
|
Decreased urinary sulfate, Delayed eruption of teeth, Eczematoid dermatitis, Sulfocysteinuria, In... |
OMIM:272300 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Open bite, High palate, Narrow mouth, Camptodactyly of fing... |
ORPHA:1327 |
| Tooth Agenesis, Selective, 3 |
|
Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia |
OMIM:604625 |
| Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Low urinary cyclic AMP response to PTH administration, Reduced bone mineral... |
ORPHA:79443 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Decreased body weight, Centr... |
OMIM:617926 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit... |
ORPHA:69087 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... |
OMIM:616943 |
| Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly of the 5th finger, Delayed eruption of teeth, Osteoporosis, Failure to thrive, Micro... |
ORPHA:73272 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retrognathia, Leukopenia, Tooth malposition, Renal tubular acidosis, Pancytopenia, Abnormality of... |
ORPHA:2785 |
| Craniofacioskeletal Syndrome |
|
Hydronephrosis, Hypospadias, Tracheal stenosis |
OMIM:300712 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... |
OMIM:605282 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Macrocytic anemia, Skin rash, Abnormal finger morphology, Chronic neutropenia, S... |
ORPHA:811 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Unilateral renal agenesis, Renal hypoplasia, Patent ductus arteriosus, Chronic kidney... |
OMIM:617661 |
| Scarf Syndrome |
|
Inguinal hernia, Joint hypermobility, Enamel hypoplasia, Short sternum, Umbilical hernia, Long ph... |
ORPHA:3134 |
| Char Syndrome |
|
Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger... |
ORPHA:46627 |
| Trichothiodystrophy |
|
Osteopenia, Retrognathia, High, narrow palate, Anemia, Craniosynostosis, Increased mean corpuscul... |
ORPHA:33364 |
| Holzgreve Syndrome |
|
Renal agenesis, Cleft upper lip, Hand polydactyly, Cleft palate, Renal hypoplasia |
OMIM:236110 |
| Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
| Osteoglophonic Dysplasia |
|
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi... |
OMIM:166250 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:204700 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Hypophosphatasia, Infantile |
|
Stillbirth, Anemia, Unossified vertebral bodies, Hypercalciuria, Metaphyseal cupping, Abnormality... |
OMIM:241500 |
| Cockayne Syndrome |
|
Urinary incontinence, Cachexia, Splenomegaly, Abnormal epiphysis morphology, Delayed eruption of ... |
ORPHA:191 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Broad alveolar ridges, Dental crowding, Bifid uvula, Splenomegaly, L... |
OMIM:270400 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth |
OMIM:615887 |
| Oslam Syndrome |
|
Clinodactyly of the 5th finger, Increased mean corpuscular volume, Carious teeth, Radioulnar syno... |
ORPHA:2760 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, ... |
OMIM:226730 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Carious teeth, Enamel hypoplasia |
OMIM:614564 |
| Cohen Syndrome |
|
Childhood-onset truncal obesity, High, narrow palate, Genu valgum, Short metatarsal, Short philtr... |
OMIM:216550 |
| Melnick-Needles Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Ureteral stenosis, Short humer... |
OMIM:309350 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... |
ORPHA:88630 |
| Coffin-Siris Syndrome 3 |
|
Inguinal hernia, Central diaphragmatic hernia, Joint hypermobility, High palate, Cleft palate, Wi... |
OMIM:614608 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Femoral bowing, Osteoporosis, Carious teeth, Recurrent fractures |
OMIM:126550 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Thin vermilion border, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Delayed eru... |
OMIM:257850 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
| Intellectual Disability, Birk-Barel Type |
|
High, narrow palate, Limited elbow flexion/extension, Short philtrum, Foot joint contracture, Inc... |
ORPHA:166108 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral triphalangeal thumbs, Micrognat... |
OMIM:619356 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... |
OMIM:617610 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... |
ORPHA:95699 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Micrognathia, Natal tooth, Proteinuria, Sagittal craniosynostosis, Tubulointerstitial ... |
OMIM:616901 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Thromboc... |
OMIM:243150 |
| Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, Genu valgum, Solitary median maxillary central incisor, Hammertoe, Cl... |
ORPHA:2712 |
| Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Unilateral renal agenesis, Abnormal metacarpal morphology, Abnormality of th... |
ORPHA:2673 |
| Ellis Van Creveld Syndrome |
|
Renal hypoplasia/aplasia, Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of... |
ORPHA:289 |
| Immunodeficiency 114, Folate-Responsive |
|
Hepatomegaly, Megaloblastic anemia, Atopic dermatitis, Aphthous ulcer, Carious teeth, Thrombocyto... |
OMIM:620603 |
| Familial Osteodysplasia, Anderson Type |
|
Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph... |
ORPHA:2769 |
| Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Flexion contracture, Delayed eruption of teeth |
OMIM:617105 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... |
ORPHA:347 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth |
OMIM:615905 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, Lymphopenia, T lympho... |
OMIM:617237 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Ureterocele, Pyoderma, Abnormality of the bladder, Osteoporosi... |
ORPHA:79404 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Enamel hypoplasia, Cari... |
ORPHA:90324 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... |
ORPHA:3344 |
| Osteogenesis Imperfecta, Type Xviii |
|
Femoral bowing, Abnormality of the dentition, Bowing of the long bones, Generalized osteoporosis,... |
OMIM:617952 |
| Geleophysic Dysplasia 1 |
|
Laryngotracheal stenosis, Tracheal stenosis, Wrist flexion contracture, Camptodactyly of finger, ... |
OMIM:231050 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Obtuse angle of mandible, Abnormality of bone mineral density, Temporo... |
ORPHA:2741 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Cranial hyperostosis, Calvarial osteosclerosis, Tooth malposition, Flared metaphysis, Dental crow... |
OMIM:123000 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the... |
ORPHA:3145 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Calvarial osteosclerosis, Decreased skull ossification, Thin long bone diaphyses, Cortical thicke... |
ORPHA:93324 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdo... |
ORPHA:221016 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, High palate, Wide mouth, Long philtrum, Tapered finger |
OMIM:618825 |
| Felty Syndrome |
|
Chronic otitis media, Hepatomegaly, Anemia, Arthritis, Recurrent urinary tract infections, Abnorm... |
ORPHA:47612 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... |
OMIM:600785 |
| Sanjad-Sakati Syndrome |
|
Thin vermilion border, Hypoplasia of penis, Abnormal dental enamel morphology, Abnormality of the... |
ORPHA:2323 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Amelogenesis imperfecta, Widely spaced teeth, Sandal gap, Delayed eruption of teeth, Yellow-brown... |
OMIM:619229 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Camptodactyly, Split hand, Hypoplasia of the maxilla, Renal hypoplasia... |
OMIM:246560 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Slender long bone, High palate, Prominent calcaneus, Clinodactyly, Mal... |
OMIM:612921 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Oral ulcer, Ne... |
OMIM:232220 |
| Coffin-Siris Syndrome 2 |
|
Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Inguinal hernia, Sandal gap... |
OMIM:614607 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis |
ORPHA:1525 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Unilateral renal agenesis, Bilateral talipes equinovarus, Renal hypoplasia, Micrognathia,... |
OMIM:614083 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Anemia, Osteoporosis, Splenomegaly, Weight loss, Abnormal ... |
ORPHA:100024 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Hand polydactyly, Unilateral renal agenesis |
OMIM:235740 |
| Larsen Syndrome |
|
Tracheomalacia, Bronchomalacia, Tracheal stenosis |
OMIM:150250 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Retrognathia, Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity,... |
ORPHA:99646 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydronephrosis, Micropenis, Hypospadias, Tracheal stenosis |
ORPHA:163979 |
| Chst3-Related Skeletal Dysplasia |
|
Genu valgum, Rhizomelia, Irregular epiphyses, Small epiphyses, Delayed eruption of teeth, Short m... |
ORPHA:263463 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Absence of renal corticomedullary differentiation, Ectopic kidne... |
OMIM:617641 |
| Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Hematuria, Juvenile rheumatoid arthritis, Delayed eruption of teeth,... |
ORPHA:1855 |
| Kenny-Caffey Syndrome, Type 1 |
|
Calvarial osteosclerosis, Anemia, Slender long bone, Decreased skull ossification, Carious teeth,... |
OMIM:244460 |
| Cranioectodermal Dysplasia 1 |
|
Radial deviation of finger, Everted lower lip vermilion, Microdontia, Short humerus, Short distal... |
OMIM:218330 |
| Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Narrow mouth, Re... |
OMIM:619322 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Talipes equinovarus, Abnormal renal morphology, Mandibular prognathia, Tracheobronch... |
OMIM:610253 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, Long penis, Mandibular prognathia, High palate, Small for gestational... |
OMIM:262190 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... |
ORPHA:243 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Long philtrum, Short 5th finger, Long toe, Joint hypermobility, Abnormality o... |
ORPHA:508488 |
| Verheij Syndrome |
|
Retrognathia, Joint hypermobility, Branchial cyst, Renal cyst, Renal agenesis, Renal hypoplasia, ... |
OMIM:615583 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Hypoplasia of the radius, Ectopic kidney, Unilateral renal agenesis, Horseshoe k... |
OMIM:610832 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Syndactyly, Joint hypermobility, Hypospadias, Inguinal hernia, Elbow flexion contracture, Abnorma... |
OMIM:151050 |
| Cole-Carpenter Syndrome |
|
Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal dental e... |
ORPHA:2050 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hematuria, Renal dysplasia, Aplasia of the bladder, Ureterocele, Enamel hypoplasia, Hydronephrosi... |
ORPHA:79403 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Short palm, Failure of erupti... |
ORPHA:3238 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Fanconi Anemia, Complementation Group S |
|
Narrow palate, Anemia, Proximal placement of thumb, Failure to thrive, Thick upper lip vermilion,... |
OMIM:617883 |
| Johanson-Blizzard Syndrome |
|
Anemia, Hypospadias, Delayed eruption of teeth, Hypoplasia of penis, Oligodontia, Abnormality of ... |
ORPHA:2315 |
| Short Syndrome |
|
Lipoatrophy, Radial deviation of finger, Inguinal hernia, Delayed eruption of teeth, Slender long... |
OMIM:269880 |
| Hydrolethalus Syndrome 1 |
|
Abnormal lung lobation, Stillbirth, Hypospadias, Hydronephrosis, Agenesis of the diaphragm, Trach... |
OMIM:236680 |
| Werner Syndrome |
|
Neoplasm of the oral cavity, Lipoatrophy, Rocker bottom foot, Renal neoplasm, Increased bone mine... |
ORPHA:902 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Short metacarpal, Microdontia, Tooth agenesis, Genu varum, Neutropenia, Finger s... |
ORPHA:221008 |
| Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Camptodactyly, Hip contracture, Decreased muscle mass, Elbow contracture, Tra... |
OMIM:617137 |
| Xfe Progeroid Syndrome |
|
Cachexia, Premature loss of teeth, Corneal scarring, Enamel hypoplasia, Failure to thrive, Absenc... |
OMIM:610965 |
| Zttk Syndrome |
|
Thin vermilion border, Polyuria, Unilateral renal agenesis, Short philtrum, High palate, Abnormal... |
OMIM:617140 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Panniculitis, Anemia, Delayed eruption of teeth, B lymphocytopenia, Gingival overgrowth, Reticulo... |
ORPHA:508542 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Limited elbow extension, Retrognathia, Radial deviation of finger, Elbow flexion contracture, Hig... |
OMIM:272430 |
| Cartilage-Hair Hypoplasia |
|
Mucopolysacchariduria, Aplasia/Hypoplasia of the abdominal wall musculature, Tracheal stenosis |
ORPHA:175 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Advanced eruption of teeth, Glomerulopathy, Pancreatitis, Hepatomegaly, Loss of subc... |
ORPHA:2348 |
| Eiken Syndrome |
|
Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Epiphyseal dyspl... |
ORPHA:79106 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Nephropathy, Delayed eruption of teeth |
ORPHA:2238 |
| Lead Poisoning |
|
Abnormal T cell morphology, Cranial hyperostosis, Anemia, Delayed eruption of teeth, Skin rash, C... |
ORPHA:330015 |
| Craniometaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... |
OMIM:300554 |
| Amelogenesis Imperfecta, Type Ig |
|
Amelogenesis imperfecta, Polyuria, Gingival fibromatosis, Impaired renal concentrating ability, D... |
OMIM:204690 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Renal phosphate wasting, Delayed epiphyseal os... |
OMIM:241530 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Abnormal palate morphology, Congenital diaphragmatic hernia, Abnormal femur morpho... |
ORPHA:2063 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Widely spaced teeth, Enamel hypoplasia, Carious teeth, Partial duplication of thumb phalanx, Shor... |
OMIM:620193 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Narrow mouth, Hypopl... |
OMIM:617666 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Unilateral renal agenesis, Joint hypermobility, Adducted thumb, Hernia, Talipes equin... |
OMIM:616603 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal metaphysis morphology, Grayish enamel, Reduced bone mineral density, Genu valgum, Abnorm... |
ORPHA:582 |
| 3M Syndrome |
|
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5... |
ORPHA:2616 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Short philtrum, Short lingual frenulum, Renal agenesis, Widely-spaced ... |
OMIM:608980 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Multipl... |
OMIM:113300 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Sandal gap, Prominent fingertip pads, Everted lower lip vermilion, Microdontia, ... |
OMIM:615873 |
| Craniolenticulosutural Dysplasia |
|
Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Decreased... |
ORPHA:50814 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
OMIM:202010 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Abnormality of the kidney, Thick lower lip vermilion, Inguinal hernia,... |
ORPHA:261652 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Hypoplastic pelvis, Hypoplas... |
OMIM:616300 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Hepatomegaly, Anemia... |
ORPHA:667 |
| Kabuki Syndrome 2 |
|
Recurrent otitis media, Joint hypermobility, Short 5th finger, Prominent fingertip pads, High pal... |
OMIM:300867 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Generalized lipodystrophy, Progressive clavicular acroosteo... |
OMIM:608612 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Polydactyly, Slender long bone, Hypoplastic pelvis, Thin b... |
OMIM:612731 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology, Decreased body weight, Patent ductus arteriosus, Prominence of... |
OMIM:614886 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Supernumerary tooth, Retrognathia, Widely spaced teeth, Short 5th toe, Hypospadias, ... |
ORPHA:268261 |
| Ellis-Van Creveld Syndrome |
|
Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic... |
OMIM:225500 |
| Dent Disease 1 |
|
Proximal tubulopathy, Femoral bowing, Tibial bowing, Nephrocalcinosis, Metaphyseal irregularity, ... |
OMIM:300009 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Adducted thumb, Notched primary central incisor, Brachydactyly |
OMIM:620062 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Anemia, Craniosynostosis, Smooth tongue, Atrophic scars, Failure to thrive, Enamel hypo... |
ORPHA:79396 |
| Mucopolysaccharidosis, Type Ii |
|
Thick lower lip vermilion, Widely spaced teeth, Recurrent otitis media, Inguinal hernia, Delayed ... |
OMIM:309900 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Inguinal hernia, Bowe... |
OMIM:272460 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Chronic otitis media, Dental crowding, Internally rotated shoulders, Agenesis of permanent teeth,... |
OMIM:619503 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Short philtrum, Mandibular prognathia, High palate, Camptodactyly of t... |
ORPHA:261337 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula |
OMIM:189960 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic oral candidiasis, Chronic active hepatitis, Chronic mucocutaneous candidiasis, Keratoconj... |
OMIM:240300 |
| Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Widely spaced teeth, Genu valgum, Hepatomegaly, Inguinal hernia, Keratan sulfate ... |
OMIM:253000 |
| Muckle-Wells Syndrome |
|
Abnormal palate morphology, Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin ... |
ORPHA:575 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Neon... |
OMIM:609638 |
| Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Shor... |
ORPHA:949 |
| Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit... |
ORPHA:1811 |
| Hypomagnesemia 3, Renal |
|
Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Ricket... |
OMIM:248250 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Large for gestational age, Enlarged kidney, Abnormal thumb morphology, Inguina... |
ORPHA:500095 |
| Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Hypospadias, Hypoplasia of penis, Hydron... |
ORPHA:818 |
| Scalp-Ear-Nipple Syndrome |
|
Clinodactyly of the 5th finger, Unilateral renal agenesis, Finger syndactyly, Mandibular prognath... |
OMIM:181270 |
| Kleefstra Syndrome |
|
Chronic otitis media, Hypoplasia of penis, Everted lower lip vermilion, Hernia, Advanced eruption... |
ORPHA:261494 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Malan Syndrome |
|
Retrognathia, Advanced eruption of teeth, Gingival overgrowth, Mandibular prognathia, Narrow mout... |
OMIM:614753 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Bronchiectasis, Sinusitis, Failure to thrive, Eosinophilia, Neutrophilia, T... |
OMIM:226990 |
| Igg4-Related Kidney Disease |
|
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... |
ORPHA:449395 |
| Liang-Wang Syndrome |
|
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... |
OMIM:618729 |
| Leishmaniasis |
|
Hepatomegaly, Anemia, Abnormal oral cavity morphology, Pancytopenia, Abnormal macrophage morpholo... |
ORPHA:507 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Eczematoid ... |
OMIM:305100 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:612529 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Enamel hypomineralizati... |
ORPHA:494444 |
| Developmental And Epileptic Encephalopathy 66 |
|
Widely spaced teeth, Clinodactyly of the 5th finger, Neutropenia, Anemia, Everted lower lip vermi... |
OMIM:618067 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Retrognathia, Ectopic kidney, Hypoplastic iliac wing, Umbilical hernia, Narrow palate, Oligodonti... |
OMIM:235510 |
| Recon Progeroid Syndrome |
|
Thin vermilion border, Anemia, Proximal placement of thumb, Dental crowding, Arachnodactyly, Thro... |
OMIM:620370 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Hepatomegaly, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Recurrent sk... |
OMIM:612840 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Short palm, Micrognathia, Hip co... |
ORPHA:85201 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Everted upper lip vermilion, Anemia, Short philtrum, Pancytopenia, B lymphocytopenia, Increased p... |
OMIM:619824 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Skin rash, Leukocytosis, Aphthous ulcer, Renal amyloidosis, Conjunctivitis, Uveitis |
OMIM:120100 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Short long bone, Glossoptosis, Broad femoral neck, Left ventricular hypertrophy, Long philtrum, H... |
OMIM:611209 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, ... |
ORPHA:672 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Angular cheilitis, Failure to thrive, Natal tooth, Oral leukoplakia |
ORPHA:2309 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Enlarged kidney, Ureteral duplication, Tapered toe, Cardiomegaly, Hepatomegaly, Lo... |
OMIM:608836 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Left ventricular hypertrophy, Overlapping toe, Penoscrotal transposition, Advanced eruption of te... |
OMIM:619148 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxill... |
OMIM:616367 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Cranial hyperostosis, Oligodontia, Natal tooth |
OMIM:601345 |
| Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Thin vermilion border, Retrognathia, Delayed eruption of teeth, Slender long bone, N... |
OMIM:601812 |
| Sponastrime Dysplasia |
|
Short long bone, Short dental root, Microdontia, Mesomelia, Metaphyseal irregularity, Joint hyper... |
ORPHA:93357 |
| Desmosterolosis |
|
Rhizomelia, Gingival fibromatosis, Bilateral talipes equinovarus, Failure to thrive, Micrognathia... |
OMIM:602398 |
| Immunodeficiency 102 |
|
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Ch... |
OMIM:301082 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... |
ORPHA:247768 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin vermilion border, Short foot, Patchy osteosclerosis, Short palm, Micrognathia, Bifid uvula, ... |
OMIM:241410 |
| Scarf Syndrome |
|
Lambdoidal craniosynostosis, Inguinal hernia, Coronal craniosynostosis, Enamel hypoplasia, Short ... |
OMIM:312830 |
| Trichothiodystrophy 3, Photosensitive |
|
Eclabion, Failure to thrive, Carious teeth, Natal tooth, Lymphopenia, Neutropenia |
OMIM:616395 |
| Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Sea-blue histiocytosis, Gingival overgrowth, Narrow mouth, Protruding tongue, Joint... |
OMIM:230600 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Osteopenia, Hypospadias, Ingu... |
ORPHA:2409 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Unilateral renal agenesis, Acromesomeli... |
ORPHA:464306 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cleft hard palate, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Anemia, Delaye... |
OMIM:300990 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Thick lower lip vermilion, Hypoplasia of penis, Pancytopenia, Abnormality of the dentition, Evert... |
ORPHA:85321 |
| Enamel-Renal Syndrome |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno... |
ORPHA:1031 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Failure to thrive, ... |
OMIM:617865 |
| Sclerosteosis 1 |
|
Tooth malposition, Mandibular prognathia, Abnormal pelvic girdle bone morphology, Deviation of fi... |
OMIM:269500 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... |
ORPHA:99429 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Distal symphalangism... |
OMIM:606895 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Slender build, Hydronephro... |
ORPHA:364028 |
| Codas Syndrome |
|
Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Delayed ossification of carp... |
OMIM:600373 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Iron deficiency anemia, Tooth abscess, Hyperphosphaturia, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint stiffness, Wide mouth, Constricted iliac wing, Joint hypermobility, Coxa valga, Inguinal he... |
OMIM:253010 |
| Microphthalmia, Lenz Type |
|
Orofacial cleft, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Clinodactyly of the 5th fing... |
ORPHA:568 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, High palate, Eczematoid dermatitis, Hyperimidodipeptiduria, Failure to thri... |
OMIM:170100 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Anemia, Arthritis, Skin rash, Glossoptosis, Sinusitis, Failure to thrive, R... |
ORPHA:47 |
| Digeorge Syndrome |
|
Seborrheic dermatitis, Recurrent sinusitis, Bifid uvula, Splenomegaly, Umbilical hernia, Short ph... |
OMIM:188400 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Clinodactyly of the 5th finger, Dental crowding, Eruption failure, 2-3 toe ... |
ORPHA:476126 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Patent ductus arteriosus,... |
OMIM:615502 |
| 4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Pelvic k... |
OMIM:247200 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Proximal placement of thumb, Dislocated radial h... |
OMIM:122470 |
| Marshall Syndrome |
|
Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul... |
OMIM:154780 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Panniculitis, Anemia, Myositis, Arthritis, Skin rash, Lymphopenia, Sinusitis, Failu... |
OMIM:617591 |
| Erdheim-Chester Disease |
|
Abnormal metaphysis morphology, Anemia, Increased bone mineral density, Skin rash, Dysuria, Hydro... |
ORPHA:35687 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal shoulder morphology, Abnormality of the temporomandibular joint, Hip osteoarthritis, Ane... |
ORPHA:85408 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Sclerosing cholangitis, Oligodontia, Enamel hypoplasia, Splenomegaly, Hypodontia |
OMIM:607626 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Patent ductus arteriosus, Stage 5... |
OMIM:615382 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Renal hypoplasia/aplasia, Renal agenesis, Joint stiffness, Micrognathia, Cle... |
ORPHA:2516 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Abnormality of the dentition, Enamel hypoplasia, Failure to thrive, Bifid uvula, Wide mouth |
OMIM:615802 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Tracheomalacia, Abnormal tracheal morphology, Abnormal lung morphology, Recurrent pn... |
ORPHA:60032 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Thin vermilion border, Hypoplasia of the radius, Hypospadias, Narrow mout... |
ORPHA:96097 |
| Coffin-Lowry Syndrome |
|
Everted lower lip vermilion, Short metacarpal, Wide mouth, Short distal phalanx of finger, Joint ... |
ORPHA:192 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di... |
OMIM:200990 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Hepatosplenomega... |
OMIM:619902 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Anisopoikilocytosis, Anemia, Proximal placement of thumb, Decreased body weight, Synd... |
OMIM:615789 |
| Apert Syndrome |
|
Chronic otitis media, Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynosto... |
OMIM:101200 |
| Congenital Myopathy 17 |
|
Overlapping fingers, Mandibular prognathia, High palate, Tapered finger, Overlapping toe, Renal h... |
OMIM:618975 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Alg9-Cdg |
|
Narrow greater sciatic notch, Enlarged kidney, Abnormal bone ossification, Short long bone, Bifid... |
ORPHA:79328 |
| Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Abnormality of connective tissue, Skin rash, Clubbing, Eczematoid ... |
ORPHA:79128 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Scarring alopecia of scalp, Eczematoid dermatitis, Cleft palate, Natal tooth, Acn... |
OMIM:617337 |
| Radial-Renal Syndrome |
|
Absent radius, Ectopic kidney, Absent thumb, Unilateral renal agenesis |
OMIM:179280 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint hypermobility, Pathologic fracture, Stage 5 chronic kidney disease, Keloids, Hip dislocatio... |
OMIM:309000 |
| Sotos Syndrome |
|
Narrow palate, Abnormality of the kidney, Advanced eruption of teeth, High, narrow palate, Genu v... |
OMIM:117550 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Atrophic scars, Vesicoureteral reflux, Increased connective tissue, Jo... |
OMIM:606408 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Failure ... |
OMIM:600081 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Cockayne Syndrome A |
|
Square pelvis bone, Hypoplastic iliac wing, Hypoplastic pelvis, Splenomegaly, Delayed eruption of... |
OMIM:216400 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Increased mean corpuscular volume, Premature loss of teeth, Lymphopenia,... |
OMIM:127550 |
| Fibrous Dysplasia Of Bone |
|
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphenoid ... |
ORPHA:249 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Abnormal palate morphology, Hepatomegaly, Anemia, Neoplasm of the to... |
ORPHA:100026 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Anemia, Patent ductus arteriosus, Nephrotic syndrome, Joint stiffness, Hepatospl... |
ORPHA:505248 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Failure to thrive, Hepatosplenom... |
OMIM:618963 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Short middle phalanx of the 4th finger, Limited pronation/supination of forearm, Cleft pa... |
OMIM:616738 |
| Mandibuloacral Dysplasia |
|
Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ... |
ORPHA:2457 |
| Orofaciodigital Syndrome I |
|
Radial deviation of finger, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridge overgrowth, ... |
OMIM:311200 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Unilateral renal agenesis, Inguinal hernia, Postaxial polydactyly... |
ORPHA:457284 |
| Prolidase Deficiency |
|
Reduced bone mineral density, Genu valgum, Abnormal hip bone morphology, Hepatomegaly, Recurrent ... |
ORPHA:742 |
| Andersen-Tawil Syndrome |
|
Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s... |
ORPHA:37553 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Lipoatrophy, Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Osteolytic defects of the ph... |
ORPHA:280365 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee... |
ORPHA:1946 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Retrognathia, Hemolytic-uremic syndrome, Anemia, Short philtrum, Short long bone, Lymphopenia, Sc... |
OMIM:301110 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Abnormality of the urinary sys... |
ORPHA:96092 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Oligodactyly,... |
ORPHA:1307 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Short hallux, Bilateral renal agenesis, Micrognathia, Stage 2 chronic ... |
OMIM:620305 |
| Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color |
ORPHA:1873 |
| Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Clubbing of fingers, Leukocytosis, Renal amyloidosis, Conjunctivit... |
OMIM:191900 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
| Gapo Syndrome |
|
Abnormal metaphysis morphology, Abnormal palate morphology, Delayed eruption of teeth, Mandibular... |
ORPHA:2067 |
| Immunodeficiency 27A |
|
Anemia, Salmonella osteomyelitis, Leukocytosis, Hypoplasia of the femoral head, Histiocytosis, He... |
OMIM:209950 |
| Osteopathia Striata With Cranial Sclerosis |
|
Flexion contracture of toe, Dental crowding, Arachnodactyly, Paranasal sinus hypoplasia, Bifid uv... |
OMIM:300373 |
| Atelosteogenesis Type I |
|
Pulmonary hypoplasia, Laryngotracheal stenosis, Multiple renal cysts |
ORPHA:1190 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Per... |
OMIM:618849 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Recurrent fractures, Abnormal ... |
OMIM:163200 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dental crowding, Joint stiffness, Short distal phalanx of finger, Coxa valga, Loss of subcutaneou... |
OMIM:248370 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly, Erythema nodosum |
OMIM:611762 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Abnormal T cell morphology, Lateral displacement of the femoral head, Anemia, Pancyto... |
OMIM:242900 |
| Laryngomalacia |
|
Abnormal tracheal morphology |
OMIM:150280 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Hashimoto thyroiditis, Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Tapered finger,... |
ORPHA:464311 |
| Teebi Hypertelorism Syndrome 1 |
|
Dental crowding, Omphalocele, Coronal craniosynostosis, Micrognathia, Natal tooth, Long philtrum,... |
OMIM:145420 |
| Aspartylglucosaminuria |
|
Chronic otitis media, Hepatomegaly, Abnormal cortical bone morphology, Inguinal hernia, Arthritis... |
ORPHA:93 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Calvarial osteosclerosis, Anemia, Decreased skull ossification, Thin long bone diaphyses, Cortica... |
ORPHA:93325 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... |
OMIM:610805 |
| Poikiloderma With Neutropenia |
|
Retrognathia, Recurrent otitis media, Skin rash, Joint stiffness, Carious teeth, Micrognathia, Re... |
OMIM:604173 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610125 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Retrognathia, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Denta... |
OMIM:268310 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Knee ... |
ORPHA:3206 |
| Frank-Ter Haar Syndrome |
|
Broad alveolar ridges, Short long bone, Wide mouth, Camptodactyly, Osteoporosis, Short palm, Shor... |
OMIM:249420 |
| Trisomy 13 |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia |
ORPHA:3378 |
| Fraser Syndrome |
|
Abnormal lung lobation, Hypospadias, Hypoplasia of penis, Death in infancy, Pulmonary hypoplasia,... |
ORPHA:2052 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Widely spaced teeth, Hepatomegaly, Delayed eruption of teeth, Seborrheic dermatitis, Gingival ove... |
OMIM:301072 |
| Lacrimoauriculodentodigital Syndrome |
|
Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hypoplasia of the radius, Abnor... |
ORPHA:2363 |
| Tularemia |
|
Pneumonia, Anemia, Inflammatory abnormality of the eye, Oral ulcer, Skin rash, Leukocytosis, Thro... |
ORPHA:3392 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Enlarged kidney, Abnormal femur morphology, Anemia, Fractures of the... |
ORPHA:464329 |
| Dubowitz Syndrome |
|
Sandal gap, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Joint hypermobility, Craniosyn... |
ORPHA:235 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Torticollis, Plantar flexion contracture, Hypospadias, Abnormal tracheal morphology, Small hypoth... |
ORPHA:2872 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa... |
OMIM:604387 |
| Hennekam Syndrome |
|
Retrognathia, Supernumerary tooth, Ectopic kidney, Short philtrum, Delayed eruption of teeth, Fin... |
ORPHA:2136 |
| Paget Disease Of Bone 2, Early-Onset |
|
Premature loss of teeth, Osteosclerosis of the ulna, Femoral bowing, Fractures of the long bones,... |
OMIM:602080 |
| Gaucher Disease |
|
Joint stiffness, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia, Increas... |
ORPHA:355 |
| Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal hemidiaphragm morphology, Abnormal tracheal morphology, Ureteral stenosis,... |
ORPHA:2257 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Cleft palate, Hydr... |
ORPHA:2237 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Advanced eruption of teeth, Inguinal hernia, Talipes equinovarus, Finger syndactyly, Broad alveol... |
ORPHA:2215 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Carious teeth, Flexion contracture, Oliguria, Renal insufficiency, Narrow foramen obtu... |
ORPHA:220393 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon... |
OMIM:180700 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint hypermobility, Delayed eruption of teeth, Narrow iliac wing, High palate, Cario... |
OMIM:607812 |
| Poems Syndrome |
|
Hepatomegaly, Metaphyseal sclerosis, Clubbing of fingers, Visceromegaly, Sclerosis of hand bone, ... |
ORPHA:2905 |
| Dent Disease |
|
Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Ri... |
ORPHA:1652 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal irregularity, Genu valgum, Hepatomegaly, Inguinal hernia, Delayed eruption of teeth, ... |
OMIM:253200 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Thick vermil... |
OMIM:615866 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Thin vermilion border, Clinodactyly of the 2nd finger, Hypocalciuria, Conical incisor... |
ORPHA:73223 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Clinodactyly of the 5th finger, Hypospadias, Abnormality of the ureter... |
ORPHA:2842 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Increased adipose tiss... |
ORPHA:199276 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Agonadism, Hypoplas... |
OMIM:154230 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Williams Syndrome |
|
Chronic otitis media, Hypoplasia of penis, Everted lower lip vermilion, Microdontia, Joint stiffn... |
ORPHA:904 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Abnormal thumb morphology, Conical tooth, Microdontia, Carious teeth, Duplication of thumb phalan... |
OMIM:620192 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Abnormality of the kidney, Vesicoureteral reflux, Narrow mouth, Renal agenesis, Arachnodactyly, O... |
ORPHA:261222 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... |
OMIM:146510 |
| Trisomy 9P |
|
Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Downturned c... |
ORPHA:236 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Tapered finger, Renal cyst, Carious teeth, Down-sloping shoulders, Microretrognathia, Conjunctivi... |
OMIM:615560 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Short 4th metacarpal, Phimosis, Carious teeth, Premature loss of primary teeth, Inflam... |
ORPHA:2908 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatomegaly, Unilateral renal agenesis, Short long bone, Bilateral talipes equinovarus, Hydronep... |
OMIM:620454 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Neutropenia, Anemia, High palate, Failure to thrive, Thrombocytopenia,... |
OMIM:614520 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
| Leopard Syndrome 1 |
|
Limited elbow movement, Hypospadias, Unilateral renal agenesis, Mandibular prognathia, Cleft pala... |
OMIM:151100 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Recurrent s... |
OMIM:619281 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Thick lower lip vermilion, Clinodactyly of the 5th finger, Delayed eruption ... |
ORPHA:369950 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Seborrheic dermatitis, Femoral bowing, Broad thumb, Bilateral radial aplasi... |
OMIM:274000 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Short foot, M... |
OMIM:268400 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short long bone, Splenomegaly, Cystic renal dysplasia, Short finger, Inguinal hernia, Short palm,... |
OMIM:269860 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
| Congenital Tracheal Stenosis |
|
Abnormal lung lobation, Anomalous origin of left pulmonary artery from ascending aorta, Abnormal ... |
ORPHA:141127 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Erythrodontia, Hepatomegaly, Red urine, Corneal scarring, Hemolytic anemia, Thrombocy... |
OMIM:263700 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Oligodontia, Natal tooth, Hypodontia, Hip dislocation |
OMIM:614381 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Diaphyseal sclerosis, Metaphyseal widening, Increased skull ossification, Tented u... |
OMIM:618476 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Aplasia of the vagina, Abnormal external gen... |
OMIM:158330 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Abnormal tracheal morphology, Camptodactyly |
OMIM:616006 |
| De Barsy Syndrome |
|
Osteopenia, Adducted thumb, Patent ductus arteriosus, Inguinal hernia, Delayed eruption of teeth,... |
ORPHA:2962 |
| Cranioectodermal Dysplasia 3 |
|
Widely spaced teeth, Nephronophthisis, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower ... |
OMIM:614099 |
| Robinow Syndrome |
|
Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, Mesomelia, Bifid... |
ORPHA:97360 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal metaphysis morphology, Supernumerary tooth, Thin vermilion border, Glomerulopathy, Paten... |
ORPHA:86818 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Thin vermilion border, Hyperextensible hand joints, Unilateral renal agenesis, Short philtrum, Sl... |
ORPHA:500150 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukemia, Leukocytosis, Osteoporo... |
ORPHA:98850 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Umbilical hernia, Overlapping toe, Narrow palate, Failure to thrive, Recurr... |
ORPHA:99843 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow greater sciatic notch, Hepatomegaly, Neutropenia, Metaphyseal sclerosis, Acute myeloid leu... |
OMIM:260400 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Glomerulonephritis, Osteoporosis, Carious teeth, Renal amyloidosis, Urethral stricture, Erosion o... |
ORPHA:79408 |
| Primary Hyperoxaluria Type 1 |
|
Hematuria, Decreased glomerular filtration rate, Anemia, Recurrent urinary tract infections, Hype... |
ORPHA:93598 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Folliculitis, Angular cheilitis, Oral leukoplakia |
OMIM:167210 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Anemia, Pelvic kidney, Absent thumb, Agenesis of permanent teeth |
OMIM:617244 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Neutropenia, Anemia, Homocystinuria, Stomatitis, Glossitis, Skin rash, Cystathionin... |
OMIM:277380 |
| Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Cleft palate, Natal ... |
ORPHA:158687 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Failure to thrive, Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
| Congenital Tracheomalacia |
|
Pneumothorax, Pneumonia, Emphysema, Tracheomalacia, Anomalous tracheal cartilage, Tracheobronchom... |
ORPHA:95430 |
| Orofaciodigital Syndrome Vi |
|
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... |
OMIM:277170 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Narrow greater sciatic notch, Enlarged kidney, Short greater sci... |
OMIM:312870 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Chronic mucocutaneous candidiasis, Calcium nephrolithiasis, Conju... |
ORPHA:36913 |
| Generalized Pustular Psoriasis |
|
Cheilitis, Arthritis, Leukocytosis, Geographic tongue, Obesity, Palmoplantar pustulosis, Pustule,... |
ORPHA:247353 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t... |
OMIM:266920 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Omphalocele, Renal agenesis, Micromelia, Cleft palate, Unilatera... |
ORPHA:63862 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Anemia, Pancytopenia, Stomatitis, Gingival overgrowth, Gingival bleeding, Leukocytosis... |
ORPHA:520 |
| Hallermann-Streiff Syndrome |
|
Narrow palate, Thin vermilion border, Supernumerary tooth, High, narrow palate, Decreased number ... |
OMIM:234100 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Enlarged kidney, Sandal gap, Umbilical hernia, Long philtrum, Cardio... |
OMIM:300855 |
| Familial Benign Copper Deficiency |
|
Diaphyseal undertubulation, Anemia, Deep philtrum, Acne |
ORPHA:1551 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Thick lower lip vermilion, Short philtrum, Talipes equinovarus, Dental crowd... |
OMIM:309583 |
| Incontinentia Pigmenti |
|
Orofacial cleft, Osteolysis, Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel... |
ORPHA:464 |
| Proteus Syndrome |
|
Macrodactyly, Enlarged kidney, Lipoma, Cachexia, Abnormal finger morphology, Calvarial hyperostos... |
ORPHA:744 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Oligodontia, Delayed eruption of teeth |
ORPHA:447896 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalciuria, Oligodontia, Elbow flexion contracture, Mucopolysacchariduria, Rena... |
OMIM:618440 |
| Proboscis Lateralis |
|
Orofacial cleft, Abnormal ethmoid bone morphology, Agenesis of canine, Abnormal facial skeleton m... |
ORPHA:141099 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Failure to thrive, Neonatal death, Patent ductus arteriosus, Small for... |
OMIM:620024 |
| Rubinstein-Taybi Syndrome 1 |
|
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti... |
OMIM:180849 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy... |
OMIM:149730 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Ankle flexion contracture, Micrognathia, Natal tooth |
OMIM:617802 |
| Bladder Exstrophy And Epispadias Complex |
|
Epispadias, Hydroureter, Unilateral renal agenesis, Inguinal hernia, Abnormal pelvic girdle bone ... |
OMIM:600057 |
| Pachydermoperiostosis |
|
Hepatomegaly, Osteolysis, Abnormal cortical bone morphology, Anemia, Seborrheic dermatitis, Arthr... |
ORPHA:2796 |
| Stickler Syndrome |
|
Chronic otitis media, Reduced bone mineral density, Cachexia, Glossoptosis, Tooth agenesis, Arach... |
ORPHA:828 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Broad thumb, Leukopenia, Splenomegaly, Lymphopenia, Clinodactyly, Neutropenia, ... |
OMIM:612541 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hemolytic anemia, Hepatosplenomeg... |
ORPHA:846 |
| Singleton-Merten Syndrome 1 |
|
Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Cardiome... |
OMIM:182250 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... |
ORPHA:3464 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Hypospadias, Wide distal femoral metaphysis, Short 1st metacarpal, Tibial bowing, Po... |
OMIM:269150 |
| Hallermann-Streiff Syndrome |
|
Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f... |
ORPHA:2108 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:245660 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... |
OMIM:137920 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2470 |
| Atypical Werner Syndrome |
|
Lipoatrophy, Rocker bottom foot, Reduced bone mineral density, Chondrocalcinosis, Increased bone ... |
ORPHA:79474 |
| Omenn Syndrome |
|
Abnormal metaphysis morphology, Hepatomegaly, Anemia, Thyroiditis, Abnormal lymphocyte morphology... |
ORPHA:39041 |
| Zimmermann-Laband Syndrome 1 |
|
Hepatomegaly, Patent ductus arteriosus, Short philtrum, Delayed eruption of teeth, Gingival fibro... |
OMIM:135500 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Wide mouth, Multiple rena... |
ORPHA:116 |
| Schinzel-Giedion Syndrome |
|
Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Umbilical hernia, Sh... |
ORPHA:798 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Narrow mouth, Decreased body weight, Ankyloglossia, Failure to thrive, Carious teeth, Fle... |
ORPHA:89842 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Proximal placement of thumb, Hand polydactyly, Neonatal death, Hydronephrosis, S... |
OMIM:314390 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Femoral bowing, Asplenia, Tali... |
OMIM:615415 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... |
ORPHA:1826 |
| Diamond-Blackfan Anemia 21 |
|
Genu valgum, Anemia, Erythroid hypoplasia, Sandal gap, Clinodactyly of the thumb, Narrow mouth, O... |
OMIM:620072 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Nephrolithiasi... |
OMIM:232200 |
| Monosomy 9Q22.3 |
|
Polydactyly, Large for gestational age, Orofacial cleft, Odontogenic keratocysts of the jaw, Dela... |
ORPHA:77301 |
| Greenberg Dysplasia |
|
Retrognathia, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal ... |
OMIM:215140 |
| Cockayne Syndrome B |
|
Square pelvis bone, Hypoplastic iliac wing, Hypoplastic pelvis, Splenomegaly, Delayed eruption of... |
OMIM:133540 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Ureteral duplication, Short metacarpal, Split foot, Umbilical he... |
OMIM:305600 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Radial deviation of finger, Umbilical hernia, Clinodactyly, Coxa valga, Hypospadi... |
OMIM:301040 |
| Fanconi Anemia, Complementation Group P |
|
Hypoplasia of the radius, Anemia, Pancytopenia, Pelvic kidney, Micrognathia, Absent thumb, Short ... |
OMIM:613951 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Abnormality of the kidney, Short philtrum, Mandibular prognathia, Nephrolithiasis, Calcaneovalgus... |
ORPHA:521445 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Anemia, Triangular mouth, Vesicoureteral reflux, Lymphopenia, Corneal scarr... |
OMIM:618460 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermi... |
ORPHA:1772 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hypophosphatemic rickets, Hepatomega... |
OMIM:276700 |
| Dubowitz Syndrome |
|
Aplastic anemia, Clinodactyly of the 5th finger, Hypospadias, Inguinal hernia, Delayed eruption o... |
OMIM:223370 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad 2nd toe, Everted lower lip vermilion, Wide mouth, Umbilical hernia, Clinodactyly, Short phi... |
OMIM:280000 |
| Cherubism |
|
Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ... |
OMIM:118400 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Scarring, Erythrodontia, Red urine, Scarring alopecia of scalp, Purple urine, Red-bro... |
ORPHA:95159 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Anemia, Ectopic kidney, Macrocytic anemia, Morgagni diaphragmati... |
OMIM:613309 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Abnormality of the medullary cavity of the long bones, Increased bone mineral density, Th... |
OMIM:127000 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia... |
OMIM:619777 |
| Pitt-Hopkins Syndrome |
|
Abnormal palate morphology, Short metatarsal, Short philtrum, Tooth malposition, Esophagitis, Fai... |
ORPHA:2896 |
| Renal Agenesis |
|
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... |
ORPHA:411709 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Multiple carpal ossification centers, Generalized bone demineralization, Dislocated radial head, ... |
OMIM:143095 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Osteoporosis, Microdontia, Carious teeth, Thrombocytopenia, Oral l... |
OMIM:224230 |
| Congenital Erythropoietic Porphyria |
|
Increased urinary porphobilinogen, Purple urine, Red-brown urine, Recurrent bacterial skin infect... |
ORPHA:79277 |
| Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Hematuria, Anemia, Pancytopenia, Gingival bleeding, Splenic infarction,... |
ORPHA:77259 |
| Mirage Syndrome |
|
Anemia, Hypospadias, Adrenal hypoplasia, Microphallus, Decreased testicular size, Hypergonadotrop... |
OMIM:617053 |
| Diamond-Blackfan Anemia |
|
Normochromic anemia, Macrocytic dyserythropoietic anemia, Absent thumb, Leukopenia, Neutropenia, ... |
ORPHA:124 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Branchio-Oculo-Facial Syndrome |
|
Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi... |
ORPHA:1297 |
| Marden-Walker Syndrome |
|
Retrognathia, Renal hypoplasia/aplasia, Joint stiffness, Arachnodactyly, Bifid uvula, Abnormality... |
ORPHA:2461 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy... |
OMIM:263200 |
| Spondyloocular Syndrome |
|
Osteopenia, Femur fracture, Decreased body weight, Abnormality of the dentition, Arachnodactyly, ... |
OMIM:605822 |
| Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Decreased body weight, Juvenile ... |
OMIM:266270 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth |
OMIM:620114 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad distal phalanx of finger, Dental crowding, Broad thumb, Joint hypermobility, Keloids, Narro... |
ORPHA:353281 |
| Weill-Marchesani Syndrome 1 |
|
Narrow palate, Broad phalanges of the hand, Tooth malposition, Broad metacarpals, Broad metatarsa... |
OMIM:277600 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Bifid uvula, Broad philtrum, Long philtrum, Impacted tooth, Agen... |
OMIM:211380 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormality of the kidney, Thick lower lip vermilion, Clinodactyly of the 5th finger, Anemia, Tal... |
ORPHA:847 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypospadias, Inguinal hernia, Unilateral renal agenesis, Renal dysplasia, Postaxial hand polydact... |
OMIM:308205 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Renal hypoplasia/aplasia, Finger clinodactyly, Mesoaxial polydactyly, High ... |
ORPHA:2754 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary... |
ORPHA:731 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
| Apert Syndrome |
|
Narrow palate, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Man... |
ORPHA:87 |
| Transaldolase Deficiency |
|
Thin vermilion border, Hepatomegaly, Anemia, Short philtrum, Pancytopenia, Failure to thrive, Wid... |
OMIM:606003 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:609441 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Eczematoid dermatitis, F... |
OMIM:304790 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of teeth, Conical tooth, Ab... |
ORPHA:1071 |
| Psoriasis 14, Pustular |
|
Cholangitis, Furrowed tongue, Leukocytosis, Geographic tongue, Pustule, Neutrophilia, Psoriasifor... |
OMIM:614204 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, De... |
OMIM:613011 |
| 15q26 overgrowth syndrome |
|
Abnormality of the kidney, Craniosynostosis, Joint hypermobility, Polycystic kidney dysplasia, Ma... |
DECIPHER:81 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Hematuria, Anemia, Pancytopenia, Increased bone mineral density, Thrombocytopenia, ... |
ORPHA:77261 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... |
OMIM:619313 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Supernumerary tooth, Abnormal hip bone morphology, Delayed eruption of teeth, Tooth agenesis, Abn... |
ORPHA:3353 |
| Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
| Radio-Renal Syndrome |
|
Retrognathia, High, narrow palate, Renal hypoplasia/aplasia, Hypoplasia of the radius, Micromelia... |
ORPHA:3015 |
| Barber-Say Syndrome |
|
Failure to thrive, Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Recurrent aspiration pneumonia, Umbilical hernia, Long philtrum,... |
ORPHA:2745 |
| Adnp Syndrome |
|
Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Urinary incontinence, Inguina... |
ORPHA:404448 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia |
OMIM:610706 |
| Floating-Harbor Syndrome |
|
Dislocated radial head, Short metacarpal, Microdontia, Nephrocalcinosis, Wide mouth, Congenital p... |
ORPHA:2044 |
| Chronic Beryllium Disease |
|
Hypersensitivity pneumonitis, Abnormal tracheobronchial morphology, Pulmonary fibrosis, Lymphocyt... |
ORPHA:133 |
| Bnar Syndrome |
|
Renal agenesis, Short lingual frenulum, Abnormal fifth toe morphology |
ORPHA:217266 |
| Sapho Syndrome |
|
Osteolysis, Hyperostosis, Arthritis, Skin rash, Abnormal sacroiliac joint morphology, Synovitis, ... |
ORPHA:793 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... |
OMIM:613673 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Inguinal hernia, Delayed eruption of teeth, High palate, Congenital hip dislocation, ... |
ORPHA:2834 |
| Barber-Say Syndrome |
|
Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t... |
OMIM:209885 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Bicornuate uterus, Hypoplastic spleen, Cryptorchidism, Hypoplasia of the u... |
OMIM:601186 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Osteopetrosis, Hepatomegaly, Splenomegaly |
OMIM:618541 |
| Incontinentia Pigmenti |
|
Scarring, Delayed eruption of teeth, Conical tooth, Oligodontia, Leukocytosis, Keratitis, Hypodon... |
OMIM:308300 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Retrognathia, Detrusor sphincter dyssynergia, Urinary incontinence, Neurogenic bladder, Hip dyspl... |
ORPHA:466722 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Unilateral renal agenesis, Inguinal hernia, Joint hypermobility, Bladder diverticulum... |
ORPHA:90348 |
| Weill-Marchesani Syndrome 2 |
|
Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the... |
OMIM:608328 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Advanced eruption of teeth, Long penis, Dental crowding, Gingival overgrowth, Mandib... |
ORPHA:769 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Narrow palate, Limited elbow extension, Hypospadias, Gingival overgrowth, High palate, Narrow mou... |
OMIM:123790 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Widely spaced teeth, Dental crowding, Eczematoid dermatitis, Urinary retention, Small for gestati... |
OMIM:617799 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Conical primary incisor |
OMIM:602400 |
| Rat-Bite Fever |
|
Morbilliform rash, Myocarditis, Pancreatitis, Anemia, Arthritis, Parotitis, Skin rash, Lymphadeni... |
ORPHA:31205 |
| Microphthalmia, Syndromic 2 |
|
Sandal gap, Bifid uvula, Umbilical hernia, Long philtrum, 2-3 toe cutaneous syndactyly, Radiculom... |
OMIM:300166 |
| Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Decreased body weight, Reduced subcuta... |
ORPHA:508 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho... |
ORPHA:79500 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Osteopenia, Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Leukopenia, T... |
OMIM:613990 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Postaxial hand polydactyly, Polysplenia, Omphalocele, Micromelia, ... |
OMIM:200995 |
| Kallmann Syndrome |
|
Reduced bone mineral density, Hypoplasia of penis, Tooth agenesis, Renal agenesis, Obesity, Cleft... |
ORPHA:478 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scarring, Cheilitis, Abnormal tongue morphology, Abnormality of the dentition, Abnormal dental mo... |
ORPHA:158668 |
| Craniosynostosis And Dental Anomalies |
|
Narrow palate, Supernumerary tooth, Chronic otitis media, Lambdoidal craniosynostosis, Delayed er... |
OMIM:614188 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormality of the kidney, Ureteral duplication, Delayed eruption of teeth, Recurrent urinary tra... |
ORPHA:2036 |
| Coffin-Siris Syndrome |
|
Thick lower lip vermilion, Hypospadias, Horseshoe kidney, Delayed eruption of teeth, Aspiration p... |
ORPHA:1465 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Short philtrum, Vesicovaginal fistula, Mandibular prognathia, Exaggerated cupid's bow, High palat... |
OMIM:300896 |
| Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia, Protruding tongue, Micrognathia, Umbilical herni... |
ORPHA:2268 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... |
ORPHA:572333 |
| Caudal Regression Syndrome |
|
Orofacial cleft, Ureteral duplication, Ectopic kidney, Abnormal iliac wing morphology, Vesicouret... |
ORPHA:3027 |
| Floating-Harbor Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Microdontia, Broad th... |
OMIM:136140 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... |
ORPHA:261537 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sandal gap, Joint contracture of the 5th finger, Prominent fingertip pads, Microdontia, Long phil... |
ORPHA:363611 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Failure to thrive, Recurrent aspiration pneumonia, Splenomegaly, Thrombocyt... |
OMIM:230900 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Ectopic kidney, Cleft soft palate, Short hard palate, Calcaneal e... |
OMIM:117650 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co... |
OMIM:619638 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Inguinal hernia, Delayed eruption of teeth, Slender long bone, High palate, Microdont... |
OMIM:278250 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Reduced bone mineral density, Hepatomegaly, Proximal tubulopathy, Anemia of inadequat... |
ORPHA:231222 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... |
ORPHA:98849 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Recurrent otitis media, Hepatomegaly, Anemia, Inguinal hernia, Ankyloglossia... |
OMIM:619525 |
| Gapo Syndrome |
|
High, narrow palate, Thick lower lip vermilion, Hepatomegaly, Tubulointerstitial fibrosis, Erupti... |
OMIM:230740 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Asplenia |
OMIM:602361 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol... |
OMIM:130650 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... |
ORPHA:261552 |
| Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Sinusitis, Abnormal platelet morphology, Lymphopenia, Neutropenia, Abnormal... |
ORPHA:906 |
| Meckel Syndrome, Type 1 |
|
Radial deviation of finger, Wide mouth, Syndactyly, Splenomegaly, Clinodactyly, Cystic renal dysp... |
OMIM:249000 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Asplenia, Neonatal death, Ureteral at... |
OMIM:208540 |
| Specc1L-Related Hypertelorism Syndrome |
|
Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge... |
ORPHA:1519 |
| Mowat-Wilson Syndrome |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... |
ORPHA:2152 |
| Fanconi Anemia, Complementation Group F |
|
Hypoplasia of the radius, Anemia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Failure to ... |
OMIM:603467 |
| Hyperoxaluria, Primary, Type I |
|
Hematuria, Calcium oxalate nephrolithiasis, Increased bone mineral density, Hyperoxaluria, Nephro... |
OMIM:259900 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl... |
ORPHA:353277 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Macrodactyly, Enlarged kidney, Seborrheic dermatitis, Foot polydactyly, 2-4 toe synd... |
ORPHA:276280 |
| Hutchinson-Gilford Progeria Syndrome |
|
Retrognathia, Reduced bone mineral density, Dental crowding, Limitation of movement at ankles, Jo... |
ORPHA:740 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Hypoplasia of penis, Oligodactyly, ... |
ORPHA:199 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Reduced bone mineral density, Anemia, Inguinal hernia, Pancytopenia, Recurre... |
OMIM:613658 |
| Dyskeratosis Congenita, X-Linked |
|
Anemia, Hypospadias, Acute myeloid leukemia, Pancytopenia, Premature loss of teeth, Phimosis, Ost... |
OMIM:305000 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Arthritis, Crohn's disease, Leukocytosis, Nephrotic syndrome, Aphthous ulcer, Peric... |
OMIM:249100 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ... |
ORPHA:438216 |
| Wiedemann-Rautenstrauch Syndrome |
|
Lipoatrophy, Hypoplastic facial bones, Short humerus, Long philtrum, Long toe, Clinodactyly, Genu... |
OMIM:264090 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Distal lower limb muscle weakness, Laryngotracheal stenosis, Elbow flexion contracture, Recurrent... |
ORPHA:508533 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Chronic oral candidiasis, Joint hypermobility, Skin rash, Chronic mucocutaneous candi... |
OMIM:147060 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ... |
ORPHA:3472 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Panniculitis, Hepatomegaly, Anemia, Pancytopenia, Oral ulcer, Skin rash, ... |
OMIM:615688 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Ectopic kidney, Duplicated collecting system, Horseshoe kidney, Pancytopenia, Abnormal re... |
OMIM:227650 |
| Degcags Syndrome |
|
Retrognathia, Abnormal spleen morphology, Wide mouth, Syndactyly, Leukopenia, Long philtrum, Cran... |
OMIM:619488 |
| Restrictive Dermopathy 1 |
|
Rocker bottom foot, Stillbirth, Ureteral duplication, Hypospadias, Patent ductus arteriosus, Shor... |
OMIM:275210 |
| Acrorenal-Mandibular Syndrome |
|
Narrow palate, Congenital diaphragmatic hernia, Hypoplasia of the radius, Hypoplasia of the ulna,... |
OMIM:200980 |
| Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia, Patent ductus arteriosus |
OMIM:618458 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Short long bone, Omphalocele, Renal agenesis, Failure to thrive, C... |
OMIM:306955 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Microdontia, Ureterocele, Split foot, Urethral stenosis, Selective tooth agenesis, Carious teeth,... |
OMIM:604292 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Ectopic kidney, Duplicated collecting system, Absent radius, Pancytopenia, Reticulocytope... |
OMIM:600901 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydroureter, Urogenital sinus anomaly, Tracheoesophageal fistula, Hydronephrosis, Displacement of... |
ORPHA:2973 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Patent ductus arteriosus, Accessory spleen, Lymphopenia, Microdontia, Absence of subcutan... |
OMIM:620005 |
| Polycythemia Vera |
|
Acute leukemia, Hepatomegaly, Gingival bleeding, Myelofibrosis, Leukocytosis, Polycythemia, Splen... |
ORPHA:729 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Delayed eruption of primary teeth |
OMIM:300952 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Microdontia, Ureterocele, Split foot, Inguinal hernia, Oligodontia, Selective tooth agenesis, Car... |
OMIM:129900 |
| Acute Generalized Exanthematous Pustulosis |
|
Cheilitis, Renal insufficiency, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustu... |
ORPHA:293173 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Tooth malposition, Hypoplasia of penis, Failure of eruption of permanent teeth, ... |
ORPHA:2250 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Vertebral... |
ORPHA:3109 |
| Hyper-Igd Syndrome |
|
Chronic oral candidiasis, Oral ulcer, Skin rash, Arthritis, Lymphadenitis, Leukocytosis, Neutroph... |
OMIM:260920 |
| Familial Adenomatous Polyposis 1 |
|
Supernumerary tooth, Eruption failure, Odontoma, Carious teeth, Multiple lipomas, Keloids |
OMIM:175100 |
| Chitayat Syndrome |
|
Abnormal pulmonary interstitial morphology, Bronchomalacia, Recurrent respiratory infections, Tra... |
OMIM:617180 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Arthritis, Mandibular prog... |
ORPHA:93111 |
| Wiedemann-Rautenstrauch Syndrome |
|
Lipoatrophy, Retrognathia, Short humerus, Joint hypermobility, Long toe, Hypospadias, Short philt... |
ORPHA:3455 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Retrognathia, Uraciluria, Delayed eruption of teeth, High palate, Micromelia, Epiphyseal dysplasi... |
ORPHA:1675 |
| Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Nephropathy, Focal segmental glomerulosclerosis... |
OMIM:194080 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Ectopic kidney, Duplicated collecting system, Horseshoe kidney, Pancytopenia, Reticulocyt... |
OMIM:227645 |
| Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Orofacial cleft, Abnormal tibia morphology, Hypospadias, Non-mid... |
ORPHA:1335 |
| Orofaciodigital Syndrome Type 4 |
|
Retrognathia, Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Genu varu... |
ORPHA:2753 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Retrognathia, Ectopic kidney, Sandal gap, Dislocated radial head... |
OMIM:135900 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Failure to thrive, Cleft lip, Notched primary central incisor |
OMIM:620519 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia |
OMIM:206900 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... |
ORPHA:232 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Reduced natural killer cell count, W... |
OMIM:619381 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:289548 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:168558 |
| Fryns Syndrome |
|
Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Prominent fingertip pads, ... |
OMIM:229850 |
| Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
| Good Syndrome |
|
Anemia, Recurrent urinary tract infections, Abnormal leukocyte morphology, Sinusitis, Thrombocyto... |
ORPHA:169105 |
| Stormorken Syndrome |
|
Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal placement of thumb, Sh... |
OMIM:261540 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... |
OMIM:304120 |
| Brucellosis |
|
Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveitis, Myocardi... |
ORPHA:1304 |
| Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Rectal abscess, Chronic mucocutaneous candidiasis, Gingivitis, Leukocytosis, Osteo... |
OMIM:116920 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones |
OMIM:620558 |
| Letterer-Siwe Disease |
|
Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... |
OMIM:174000 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, Recurre... |
OMIM:612301 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Pancreatitis, Oroticaciduria, Hemophagocytosis, Anemia, Recurrent fractures, Osteop... |
OMIM:222700 |
| Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Absent thumb, Absent radius, Neutropenia, Pancytop... |
OMIM:227646 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anemia, Abnormal hip bone morphology, Premature loss of teeth, Corneal scarring, Painless fractur... |
ORPHA:642 |
| Orofaciodigital Syndrome Xiv |
|
Epispadias, Supernumerary tooth, Preaxial polydactyly, Patent ductus arteriosus, Postaxial hand p... |
OMIM:615948 |
| Meacham Syndrome |
|
Stillbirth, Enlarged kidney, Accessory spleen, Aplasia of the left hemidiaphragm, Aplasia of the ... |
OMIM:608978 |
| Fibular Hemimelia |
|
Anophthalmia |
ORPHA:93323 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
| Leukocyte Adhesion Deficiency |
|
Perianal abscess, Severe periodontitis, Sinusitis, Impaired neutrophil chemotaxis, Chronic oral c... |
ORPHA:2968 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney, Macroglossia |
OMIM:261740 |
| Femoral-Facial Syndrome |
|
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Long philtrum... |
OMIM:134780 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Diaphyseal dysplasia, Thick lower lip vermilion, Broad ischia, Broad femoral neck, Thick upper li... |
OMIM:619727 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Anomalous tracheal cartilage, Abnormal lung morphology, Hydronephrosis, Flexion contracture |
ORPHA:35173 |
| Agammaglobulinemia, X-Linked |
|
Recurrent otitis media, Pyoderma, Prostatitis, Anemia, Recurrent urinary tract infections, B lymp... |
OMIM:300755 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Aplastic clavicle, Abnormal m... |
ORPHA:2538 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
| Familial Mediterranean Fever |
|
Pancreatitis, Arthritis, Skin rash, Leukocytosis, Nephrotic syndrome, Pericarditis, Erysipelas, N... |
ORPHA:342 |
| Holoprosencephaly |
|
Microphthalmia, Anophthalmia |
ORPHA:2162 |
| Cerebrofacioarticular Syndrome |
|
Hypospadias, Tracheomalacia, Abnormal tracheal morphology, Camptodactyly, Renal hypoplasia |
ORPHA:314679 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Everted lower lip vermilion, Bifid uvula, Wide mouth, Umbilical ... |
OMIM:601803 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
| Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Anophthalmia |
OMIM:605627 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Gardner Syndrome |
|
Supernumerary tooth, Lipoma, Odontoma, Abnormality of the dentition, Multiple unerupted teeth, Ke... |
ORPHA:79665 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Anemia, Oral ulcer, Parotitis, Arthritis, Increased B cell count, Increased T cell ... |
OMIM:620376 |
| Familial Adenomatous Polyposis |
|
Supernumerary tooth, Pancreatitis, Lipoma, Thyroiditis, Eruption failure, Odontoma, Abnormality o... |
ORPHA:733 |
| Charge Syndrome |
|
Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Patent ductus arteriosus,... |
ORPHA:138 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Cleft soft palate, Leukocytosis, Renal hypoplasia, Downturned corners of mouth, Flex... |
OMIM:619321 |
| Odontoonychodermal Dysplasia |
|
Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t... |
OMIM:257980 |
| Ciliary Dyskinesia, Primary, 53 |
|
Hypoplastic spleen, Polysplenia, Abdominal situs inversus |
OMIM:620642 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Delayed eruption of teeth, Inferior pubic ramus hypoplasia, Hypopla... |
OMIM:606170 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
| Cornelia De Lange Syndrome 6 |
|
Clinodactyly of the 5th finger, Inguinal hernia, Arachnodactyly, Short palm, Down-sloping shoulde... |
OMIM:620568 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... |
OMIM:618820 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Hypospadias, Temporomandibular joint ankylosis, Narrow mouth, D... |
ORPHA:1662 |
| Myhre Syndrome |
|
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Laryngotracheal stenosis, Camptodactyly |
OMIM:139210 |
| Blau Syndrome |
|
Abnormal salivary gland morphology, Anemia, Skin rash, Posterior uveitis, Nephropathy, Limitation... |
ORPHA:90340 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2526 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urinary incontinence, Joint hypermobility, Short 5th finger, Short finger, Hypospadias, Pelvic ki... |
OMIM:619522 |
| Sotos Syndrome |
|
Chronic otitis media, Ureteral duplication, Congenital posterior urethral valve, Umbilical hernia... |
ORPHA:821 |
| Cushing Disease |
|
Decreased eosinophil count, Intra-oral hyperpigmentation, Increased body weight, Increased urinar... |
ORPHA:96253 |
| Meckel Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia |
ORPHA:564 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Ectopic kidney, Tracheoesophageal fistula, Tracheomalacia |
ORPHA:268249 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,... |
OMIM:150400 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Multiple bladder diverticula, Death in childhood, Emphysema, Atelectasis, Tracheomalacia, Morgagn... |
OMIM:613177 |
| Townes-Brocks Syndrome 2 |
|
Bifid uterus, Hypospadias, Rectovaginal fistula |
OMIM:617466 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Branchial cyst, Ankyloglossia, Carious teeth, Downturned corners of mouth,... |
OMIM:620186 |
| Joubert Syndrome 21 |
|
Anophthalmia |
OMIM:615636 |
| Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum, Maculopapular exanthema, ... |
ORPHA:797 |
| Bardet-Biedl Syndrome |
|
Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,... |
ORPHA:110 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Orofacial cleft, Rocker bottom foot, Rhizomelia, Narrow mouth, M... |
ORPHA:63259 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2556 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ... |
ORPHA:699 |
| Pfeiffer Syndrome |
|
Tracheal cartilaginous sleeve, Bronchomalacia |
OMIM:101600 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Penoscrotal hypospadias, Patent ductus arterios... |
OMIM:618280 |
| Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610829 |
| Microsporidiosis |
|
Urethritis, Myositis, Bronchitis, Abnormal tracheal morphology, Bronchiolitis, Nephritis, Pneumonia |
ORPHA:2552 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ventral hernia, Hypospadias, Omphalocele, Renal agenesis, Cleft ... |
OMIM:313850 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Anophthalmia |
OMIM:219000 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Hypoplastic pelvis, Renal agenesis, Cleft upper lip, Micrognathi... |
OMIM:273395 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, True anophthalmia |
ORPHA:1106 |
| Keutel Syndrome |
|
Emphysema, Recurrent bronchitis, Miscarriage, Calcification of the auricular cartilage, Pulmonary... |
OMIM:245150 |
| Mowat-Wilson Syndrome |
|
Abnormality of the kidney, Widely spaced teeth, Recurrent otitis media, Hypospadias, Delayed erup... |
OMIM:235730 |
| Peters Plus Syndrome |
|
Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia, Congenital hypothyroidism, Cryptorchi... |
ORPHA:709 |
| Charge Syndrome |
|
Microphthalmia, Unilateral microphthalmos, Anophthalmia |
OMIM:214800 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:113620 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Craniofacial Microsomia 1 |
|
Transverse facial cleft, Genu valgum, Ectopic kidney, Patent ductus arteriosus, Branchial anomaly... |
OMIM:164210 |
| Limb-Mammary Syndrome |
|
Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, Bilateral breast hypop... |
ORPHA:69085 |
| Glomuvenous Malformation |
|
Abnormal tracheal morphology |
ORPHA:83454 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Bifid uterus, Cy... |
ORPHA:322 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
| Norrie Disease |
|
Attention deficit hyperactivity disorder, Irritability, Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Rectovaginal fistula, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Cryptorchi... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Cognitive impairment, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
