46,Xx Sex Reversal 3 |
|
Sex reversal |
OMIM:300833 |
46,Xy Sex Reversal 2 |
|
Sex reversal |
OMIM:300018 |
46,Xy Sex Reversal 9 |
|
Sex reversal, Gonadal dysgenesis, Fused labia minora, Ambiguous genitalia |
OMIM:616067 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
46,Xy Sex Reversal 5 |
|
Sex reversal |
OMIM:613080 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Caudal Duplication |
|
Omphalocele, Abnormal penis morphology, Spina bifida, Cryptorchidism, Myelomeningocele, Abnormal ... |
ORPHA:1756 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp... |
OMIM:615542 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Gonadal dysgenesis |
OMIM:615041 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis |
ORPHA:85174 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Acalvaria |
|
Omphalocele, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormality of neuronal mig... |
ORPHA:945 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal |
ORPHA:85112 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... |
ORPHA:64754 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Hydrocephalus |
OMIM:209970 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Death in infancy, Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Idiopathic Isolated Micropenis |
|
Ambiguous genitalia, Micropenis, Hypospadias |
ORPHA:95707 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si... |
OMIM:610644 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius,... |
ORPHA:1263 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ovotestis, Sex reversal, Adrenal gland agenesis, Oligohydramnios |
OMIM:611812 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Isolated Hemihyperplasia |
|
Cryptorchidism, Myelomeningocele, Inguinal hernia, Scoliosis |
ORPHA:2128 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Joint contracture of the hand, Spina bifida, Camptodactyly |
OMIM:211960 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... |
ORPHA:163665 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Anterior encephalocele, Foot oligodactyly, Holoprosencephaly, Scoliosis |
OMIM:601357 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... |
OMIM:156530 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... |
ORPHA:1801 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... |
ORPHA:2635 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Ab... |
ORPHA:66637 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Micropenis, Exencephaly |
OMIM:614464 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm |
ORPHA:168555 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Gastroschisis, Spina bifida |
ORPHA:2476 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... |
ORPHA:1354 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Bowing of the long bones, Proximal placement of thumb, Short neck, Abnormal rib morp... |
ORPHA:93267 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Occipital encephalocele |
OMIM:614209 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... |
ORPHA:1120 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Sacral dimple, Omphalocele, Lissencephaly |
ORPHA:531 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Schisis Association |
|
Encephalocele, Omphalocele, Congenital diaphragmatic hernia, Spina bifida, Anencephaly |
ORPHA:63862 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Clino... |
OMIM:201000 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal s... |
ORPHA:3035 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
Iniencephaly |
|
Encephalocele, Omphalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Congenital diaphragm... |
ORPHA:63259 |
Vacterl/Vater Association |
|
Omphalocele, Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology,... |
ORPHA:887 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Ambiguous genitalia, male, Micropenis |
OMIM:264600 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... |
ORPHA:957 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... |
OMIM:604864 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Ambiguous genitalia, Camptodact... |
ORPHA:2839 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Sex reversal, Oligohydramnios |
ORPHA:139466 |
Triploidy |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Short neck, Cryptorchidism, Hyd... |
ORPHA:3376 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, Long penis, Lumbar hemivertebrae, Metopic synostosis |
OMIM:190440 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy... |
OMIM:309801 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Mye... |
ORPHA:2437 |
Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Abnormality of ... |
ORPHA:1707 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, ... |
ORPHA:1834 |
Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... |
OMIM:602271 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal |
OMIM:613743 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Sacral dimple, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bifid... |
ORPHA:1327 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... |
OMIM:603194 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip dislocation, ... |
OMIM:618395 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... |
OMIM:614524 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Spondylosis, Cervical |
|
Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis |
OMIM:184300 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... |
ORPHA:93351 |
Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hemi... |
ORPHA:93929 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Vertebral segmentation defect, Spina bifida |
ORPHA:1104 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Aqueductal stenosis, Crypto... |
ORPHA:3412 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... |
OMIM:602111 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Kyphosi... |
ORPHA:3219 |
Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Abnormal... |
ORPHA:1335 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... |
ORPHA:750 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of finger, Spina bifida, Short nec... |
ORPHA:261318 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
Oeis Complex |
|
Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Ambiguous gen... |
OMIM:258040 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... |
OMIM:259440 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Cervical ribs, Prune belly |
OMIM:601389 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Omphalocele, Cryptorchidism, Hydrocephalus, Postaxial hand polyd... |
OMIM:264480 |
Diabetic Embryopathy |
|
Cryptorchidism, Abnormal sacrum morphology, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wa... |
ORPHA:1926 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
Sirenomelia |
|
Ambiguous genitalia, Spina bifida, Sirenomelia |
ORPHA:3169 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short neck, Proximal pl... |
OMIM:613776 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bo... |
OMIM:608940 |
Melnick-Needles Syndrome |
|
Omphalocele, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Abnormal rib m... |
ORPHA:2484 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Omphalocele, Spina bifida, Congenital diaphragmatic hernia, Meni... |
ORPHA:991 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Syri... |
OMIM:207950 |
Hemihyperplasia, Isolated |
|
Myelomeningocele, Scoliosis |
OMIM:235000 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th... |
OMIM:601163 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... |
ORPHA:1149 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa... |
ORPHA:90652 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... |
OMIM:173800 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Hyperlordosis, Short toe, Osteoarthritis, Abnormality of... |
ORPHA:429 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Bifid scrotum, Abnormal pe... |
ORPHA:2211 |
Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Hand polydactyly, Gastroschisis, Scoliosis, Bladder exstr... |
OMIM:217100 |
Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... |
OMIM:177170 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... |
ORPHA:93323 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:168558 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Patellar aplasia, Hypopl... |
OMIM:161200 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Omphalocele, Overlapping toe, Hypospadias, Cryptorchidism, Long fingers, Cutaneous synd... |
OMIM:618316 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Lissencephaly, S... |
OMIM:616038 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... |
ORPHA:289548 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Ambiguous genitalia, Short neck, Bowing of th... |
OMIM:269860 |
Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Umbilical hernia |
OMIM:275100 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp... |
ORPHA:2092 |
Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, ... |
ORPHA:2021 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Kyphosis, Myelomeningocele, Meningocele, Posterior rib gap, Clino... |
ORPHA:1393 |
Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:261344 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Ovoid vertebra... |
OMIM:269250 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema, Precocious puberty, Cryptorchidism, Pheochromocytoma |
ORPHA:2874 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Azoospermia, Predominantly lower limb lymphedema, Gonadal tissue inappropria... |
ORPHA:261519 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Ovarian fibroma, Down-sloping shoulders, Spi... |
OMIM:109400 |
Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Polyhydramnios, Cryptorchidism, Hydrocephalus, Sex reversal, Micropha... |
OMIM:612651 |
Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Metaphyseal widening, Flexion contractu... |
OMIM:263210 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Omphalocele, Postaxial polydactyly, Horizontal ribs, Cryptorchidism, Squared iliac... |
OMIM:616300 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal fallopian tube morphology, Rocker bottom foot, Spina bifida, Short ... |
ORPHA:99776 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Infertility, Oligozoospermia |
OMIM:615703 |
Donnai-Barrow Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Bicornuate uterus, Abnormality of the uterus, Umbil... |
ORPHA:2143 |
Limb Body Wall Complex |
|
Encephalocele, Thoracoabdominal wall defect, Ventral hernia, Broad hallux, Aplasia/hypoplasia inv... |
ORPHA:2369 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Congenital hip dislocation, Lumbar hyperlordosis, Toe syndactyly, Craniosynostosis, ... |
OMIM:609625 |
Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
C Syndrome |
|
Omphalocele, Short metacarpal, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Hip di... |
OMIM:211750 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormal finger m... |
ORPHA:2319 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... |
OMIM:300863 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism, Scoliosis, Lipoma |
OMIM:612918 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus |
ORPHA:1237 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Wormian bones, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia |
ORPHA:254534 |
Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Proximal placement of thumb, Missing ribs, Hiatus hernia, Precocio... |
OMIM:304050 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Omphalocele, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bo... |
ORPHA:371428 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Scoliosis, Spina bifida |
ORPHA:894 |
Sacral Defect With Anterior Meningocele |
|
Back pain, Myeloschisis, Absence of the sacrum, Tethered cord, Hemisacrum, Myelomeningocele, Meni... |
OMIM:600145 |
Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Occipital encephalocele, Pericardial effusion, Encephalocele |
OMIM:613885 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
Split Cord Malformation |
|
Back pain, Hemivertebrae, Abnormal thoracic spine morphology, Tethered cord, Hypospadias, Hyperlo... |
ORPHA:573278 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology |
OMIM:602196 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short... |
OMIM:617895 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Thoracic... |
OMIM:602535 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilateral cryptorchidism, ... |
OMIM:300219 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... |
ORPHA:2522 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2180 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Scoliosis, Abnormal sperm morphology, Decreased testicular s... |
ORPHA:320391 |
Mosaic Trisomy 1 |
|
Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camp... |
ORPHA:1692 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Flexion ... |
OMIM:608149 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... |
OMIM:151210 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Hypop... |
ORPHA:96334 |
Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Bifid scrotum, Congenital diaphragmatic hernia, Cryptorchidism, Ventral shortening o... |
ORPHA:95706 |
Femoral-Facial Syndrome |
|
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... |
ORPHA:1988 |
Achondrogenesis, Type Ib |
|
Inguinal hernia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral... |
OMIM:600972 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Kyphosis, Cryptorchidism, Limited elbow extension, Short metat... |
OMIM:180870 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Spina bifida, Abnormal cortical gyration, Flexion contracture, Abnor... |
ORPHA:2671 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossificati... |
ORPHA:93352 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o... |
ORPHA:3186 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... |
ORPHA:2876 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... |
ORPHA:1486 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysis, Vertebral c... |
OMIM:602557 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Spina bifida, Congenital diaphragmatic hernia, Cryptorchidi... |
ORPHA:3380 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Hydrocephalus, Oligozoospermia, Finger clinodactyl... |
ORPHA:8 |
Exstrophy-Epispadias Complex |
|
Omphalocele, Bifid scrotum, Inguinal hernia, Spina bifida, Bifid uterus, Cryptorchidism, Hydrocep... |
ORPHA:322 |
Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia |
ORPHA:93328 |
Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencep... |
OMIM:313850 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... |
ORPHA:2097 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:2772 |
3Mc Syndrome 1 |
|
Omphalocele, Sacral dimple, Single interphalangeal crease of fifth finger, Diastasis recti, Abnor... |
OMIM:257920 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... |
OMIM:144750 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Omphalocele, Inguinal hernia, Sandal gap, Hypospadias, Hallux varus, Tapered finger, Sh... |
OMIM:158170 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Abnormality of the vertebral column |
OMIM:600776 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs |
ORPHA:66630 |
Jacobsen Syndrome |
|
Death in infancy, Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Inguinal hernia, Spina... |
ORPHA:2308 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Pachygyria, Cryptorchidism, Abnormality of the abdom... |
OMIM:247200 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Overlapping toe, Diastasis recti, Large placenta, Flexion... |
ORPHA:254528 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Aplasia of the vagina, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Ver... |
ORPHA:373 |
Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:309350 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Short n... |
ORPHA:2616 |
Amish Lethal Microcephaly |
|
Death in infancy, Lissencephaly, Spina bifida |
ORPHA:99742 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... |
ORPHA:582 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Hypoplasia of penis, Epispadias, Abnormality of the clitoris, Umbil... |
ORPHA:93930 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormality of the vertebral ... |
OMIM:276950 |
Holoprosencephaly |
|
Encephalocele, Omphalocele, Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Cry... |
ORPHA:2162 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Cartilage-Hair Hypoplasia |
|
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, S... |
ORPHA:175 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overlapping fingers, Short neck, Femoral bowing, Short long bone... |
OMIM:617022 |
Joint Laxity, Short Stature, And Myopia |
|
Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Umbilical hernia |
OMIM:617662 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Hypoplastic labia minora, Flexion contracture, Hypoplastic labia majora, Scoliosis, ... |
OMIM:619124 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Uterus didelp... |
OMIM:618820 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Coxa valga, Short neck, Large plac... |
ORPHA:254519 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hydrocephalus, Meningocele, An... |
ORPHA:1908 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Ambiguous genitalia, Hypospadias |
ORPHA:276422 |
Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Umbilical hernia |
ORPHA:93298 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Primary amenorrhea |
OMIM:202110 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Hip dyspl... |
OMIM:619698 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri... |
ORPHA:2050 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Post... |
ORPHA:2166 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Small scrotum, Congenital diaphragmatic hernia, Cryptorchidism, 2-3... |
OMIM:618454 |
Distal Deletion 13Q |
|
Ambiguous genitalia, Encephalocele, Anencephaly, Holoprosencephaly |
ORPHA:1590 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Micropenis, Clitora... |
OMIM:616894 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Unilateral cryptorchidism, Penoscrotal hypospadias, Oligohydramnios |
OMIM:616489 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Flexion contracture, Femoral bowing, Abnormal ovarian morphology, Abnormality... |
ORPHA:95699 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Thoracic kyphosis, Short palm, Clinodactyly of the 5th finger, Th... |
ORPHA:508498 |
German Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Lymphedema |
ORPHA:2077 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Butterfly vertebrae, Spinal dysraphism |
OMIM:617660 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:300232 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Lymphatic Malformation 10 |
|
Hydrocele testis, Lymphedema |
OMIM:619369 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Flexion contracture, Hypoplastic iliac wing, Micropenis, Pt... |
OMIM:263650 |
Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck |
ORPHA:1703 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Sagittal craniosynostosis, Small hand, Hydrocele testis, Bicornuate uterus, Shawl sc... |
OMIM:145420 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus, Thin ribs,... |
ORPHA:163966 |
Filippi Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
OMIM:272440 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal ... |
OMIM:253010 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Arachnodactyly, Delayed closure of the anterior fontanelle, Hydrocephalus, Osteopath... |
OMIM:300373 |
Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Short neck, Hyperlordosis, Kyphosis, Cryptorchidism, Me... |
ORPHA:2789 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Cryptorchidism, F... |
OMIM:618000 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly of the 5t... |
ORPHA:84 |
Neu-Laxova Syndrome 1 |
|
Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly, Spina bifida,... |
OMIM:256520 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism, Umbilical hernia, Omphalocele, Death in infancy |
ORPHA:2241 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
Donnai-Barrow Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Bicornuate uterus, Short sternum, Umbilical hernia |
OMIM:222448 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... |
OMIM:169550 |
Fraser Syndrome |
|
Encephalocele, Death in infancy, Finger syndactyly, Toe syndactyly, Omphalocele, Hypoplasia of pe... |
ORPHA:2052 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Lissencephaly, X-Linked, 2 |
|
Ambiguous genitalia, Micropenis, Decreased testicular size |
OMIM:300215 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Hyperlordosis, Cryptorchidism, Metaphyseal widening, Thin ribs, Slender long bone, ... |
OMIM:234100 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal femor... |
ORPHA:3218 |
Opitz Gbbb Syndrome |
|
Omphalocele, Bifid scrotum, Prominent metopic ridge, Inguinal hernia, Hypospadias, Enlarged ovari... |
ORPHA:2745 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm, Umbilical... |
ORPHA:93299 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Tethered cord, Hypospadias, Spina bifida, Absent radius, Sho... |
OMIM:192350 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Diastasis recti, Bifid distal phalanx of the thumb, Hypoplasia of the uterus, Hypopl... |
OMIM:618419 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, U... |
OMIM:617952 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... |
ORPHA:1488 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly |
OMIM:618901 |
Dysosteosclerosis |
|
Delayed closure of the anterior fontanelle, Clavicular sclerosis, Increased intervertebral space,... |
OMIM:224300 |
Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Cryptorchidism, Ab... |
ORPHA:3134 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Occipital encephalocele, Bowing of the long bones, Syndactyly, Camptodactyly of fing... |
OMIM:249000 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sa... |
OMIM:200600 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sh... |
ORPHA:958 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Gapo Syndrome |
|
Dysmenorrhea, Abnormal form of the vertebral bodies, Oligozoospermia, Abnormal pelvic girdle bone... |
ORPHA:2067 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Omphalocele |
OMIM:601927 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
Fryns Syndrome |
|
Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Bicornuate... |
ORPHA:2059 |
Fryns Syndrome |
|
Omphalocele, Bifid scrotum, Hypospadias, Rocker bottom foot, Proximal placement of thumb, Short n... |
OMIM:229850 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:452 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Camptodactyly, Prominent fingertip pads, C... |
OMIM:618529 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Short long bone... |
OMIM:616229 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Tethered cord, Short neck, Kyphosis, Hydrocephalus, Meningocel... |
OMIM:130720 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Vertebral segmentat... |
ORPHA:2911 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Hypospadias, Abnormal cortical gyration, Bifid uterus, Preaxial hand polydactyly, Po... |
OMIM:236680 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Metaphyseal spurs, Ovoid vertebral b... |
ORPHA:85167 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap... |
ORPHA:436 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Hemivertebrae,... |
ORPHA:77298 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Lambdo... |
OMIM:616294 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Hypospadias, S... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Sacral dimple, Anomaly of lower limb diaphyses, Arachnodactyly, Hypospadias, S... |
ORPHA:363958 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat... |
OMIM:620076 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... |
OMIM:211350 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra... |
ORPHA:93315 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with 46,XY karyotyp... |
ORPHA:90791 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... |
ORPHA:1452 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scoliosis, Wormian bo... |
OMIM:259420 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
Neurofibromatosis, Type I |
|
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Scoliosis |
OMIM:162200 |
Meckel Syndrome |
|
Encephalocele, True hermaphroditism, Pancreatic fibrosis, Pancreatic cysts, Cryptorchidism, Male ... |
ORPHA:564 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl... |
OMIM:613091 |
Scarf Syndrome |
|
Bifid scrotum, Inguinal hernia, Diastasis recti, Short neck, Cryptorchidism, Abnormal form of the... |
OMIM:312830 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Inguinal hernia, Hypospadias, Cryptorchidism, Postaxial hand polyd... |
OMIM:308205 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Arachnodactyly, Abnormal dental enamel morphology, Spina bifida, Short neck, Hyp... |
ORPHA:567 |
C Syndrome |
|
Joint dislocation, Death in infancy, Sacral dimple, Toe syndactyly, Omphalocele, Congenital diaph... |
ORPHA:1308 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Papillary cystadenoma of the ... |
OMIM:180849 |
Greenberg Dysplasia |
|
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... |
OMIM:215140 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... |
ORPHA:93324 |
Isolated Posterior Meningocele |
|
Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural t... |
ORPHA:268810 |
Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis |
OMIM:252900 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Coxa valga, Short tubular bones of the hand, Vertebral arch anomaly, Abnormal diaphysis morpholog... |
ORPHA:85184 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Tibial bowi... |
OMIM:610915 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Inguinal hernia, Tarsal synostosis, Multiple pterygia, Short n... |
OMIM:178110 |
Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Short neck, Metatarsus adductus, E... |
ORPHA:584 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Aqueductal steno... |
OMIM:306955 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Short neck, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Pyknoachondrogenesis |
|
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... |
ORPHA:3003 |
Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, Hypospadias |
ORPHA:1913 |
Lead Poisoning |
|
Decreased female libido, Miscarriage, Abnormality of the menstrual cycle, Oligozoospermia, Infert... |
ORPHA:330015 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Hypoplastic sacrum, Brachydactyly, Short metatarsal, Small hand, Oligozoospermi... |
OMIM:614813 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, Wrist... |
OMIM:305620 |
Alg9-Cdg |
|
Omphalocele, Prominent metopic ridge, Lipodystrophy, Short neck, Flared metaphysis, Broad ischia,... |
ORPHA:79328 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Broad ribs, Abno... |
ORPHA:583 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic scoliosis, Tibial bowing,... |
OMIM:613848 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs... |
OMIM:244460 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Irregular ver... |
OMIM:271640 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Postaxial hand polydactyly, Craniosynostosis, Short neck |
OMIM:200995 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Enamel hypoplasia, Death in childhood |
OMIM:243150 |
Colonic Atresia |
|
Omphalocele, Gastroschisis |
ORPHA:1198 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... |
ORPHA:2167 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Scoliosis, Spina bifida, Tapered finger |
OMIM:619480 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Female pseudohermaphroditism, Cryptorchidism, Short toe, Shawl sc... |
ORPHA:1519 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... |
OMIM:253200 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ambiguous genitalia, Micropenis |
OMIM:618142 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... |
ORPHA:3068 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated cir... |
ORPHA:90796 |
Esophageal Atresia |
|
Omphalocele, Abnormal external genitalia, Scoliosis, Clinodactyly, Abnormal vertebral morphology |
ORPHA:1199 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ambiguous genitalia, Cryptorchidism, Micropenis, Hydrocephalus |
OMIM:614969 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... |
ORPHA:2769 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia |
ORPHA:1300 |
Charge Syndrome |
|
External genital hypoplasia, Hemivertebrae, Hand monodactyly, Holoprosencephaly, Micropenis, Hypo... |
OMIM:214800 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Holoprosencephaly, Aplasia of the uterus,... |
OMIM:619879 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Bea... |
ORPHA:89936 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:300200 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Hydrocephalus, Clubbing, Abnormal sperm motility |
ORPHA:244 |
Renpenning Syndrome |
|
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... |
ORPHA:3242 |
Craniometadiaphyseal Dysplasia |
|
Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scoliosis, Wormian ... |
OMIM:269300 |
Holoprosencephaly 7 |
|
Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly,... |
OMIM:610828 |
Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib... |
ORPHA:1318 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Elevated circulating... |
ORPHA:90793 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormal ... |
ORPHA:2273 |
Sifrim-Hitz-Weiss Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism |
OMIM:617159 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abnormal rib morphology, Femoral bowin... |
ORPHA:83 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Tetrasomy 9P |
|
Joint dislocation, Short neck, Clinodactyly of the 5th finger, Micropenis, Pachygyria, Amelogenes... |
ORPHA:3310 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Short neck, Aplasia of the ulna, Cr... |
ORPHA:2879 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Hypospadias, Diastasis recti, Syringomyelia, Posterior rib fusion, Bicornuate uterus... |
OMIM:265380 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Keloids, Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone os... |
ORPHA:93271 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Seckel Syndrome 9 |
|
Ambiguous genitalia, Polyhydramnios, Agonadism, Clitoral hypertrophy |
OMIM:616777 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Abnormality of female external genitalia, Campt... |
ORPHA:920 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Ambiguous genitalia, Micropenis, Oligo... |
OMIM:257300 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Hydrocephalus, Abnormal rib morphology, Aplasia/Hypo... |
ORPHA:3301 |
Radio-Renal Syndrome |
|
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... |
ORPHA:3015 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:52 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Persist... |
OMIM:615709 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... |
OMIM:208500 |
Bartsocas-Papas Syndrome |
|
Ambiguous genitalia, Hypoplastic male external genitalia |
ORPHA:1234 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
Caudal Regression Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:3027 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly |
OMIM:602361 |
Diphallia |
|
Bifid scrotum, Inguinal hernia, Rectoperineal fistula, Hypospadias, Absent thumb, Cryptorchidism,... |
ORPHA:227 |
Okamoto Syndrome |
|
Omphalocele, Prominent metopic ridge, Tethered cord, Bifid uterus, Hip dysplasia, Syringomyelia, ... |
ORPHA:2729 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Hand monodact... |
OMIM:609945 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Hydrocephalus, Abnormality of ... |
ORPHA:93473 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Scoliosis |
ORPHA:3164 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... |
ORPHA:96061 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Small scrotum, Congenital diaphragmatic hernia, Short neck, Flexion c... |
OMIM:601803 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
Microform Holoprosencephaly |
|
Ambiguous genitalia, Hypoplasia of penis, Panhypopituitarism, Holoprosencephaly |
ORPHA:280200 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Abnormally ossified vertebrae... |
ORPHA:800 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Precocious puberty, Oligozoospermia, Oligomenorrhea, Infertility, Ambiguous ... |
ORPHA:786 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Prominent metopic ridge, Inguinal hernia, Diastasis recti, Congenital diaphragmatic ... |
ORPHA:116 |
Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis, Polyhydramnios |
OMIM:615503 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Vaginal atresia |
OMIM:248450 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
Occipital Horn Syndrome |
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Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Coxa valga, Broad clav... |
OMIM:304150 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Prominent metopic ridge, Overgrowth of external genitalia, Diastasis recti, Cryptorc... |
OMIM:130650 |
Ciliary Dyskinesia With Defective Radial Spokes |
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Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Osteogenesis Imperfecta, Type Vii |
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Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral r... |
OMIM:610682 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Hypoplasia of penis, Ambiguous genitalia, Cryptorchidism, Male pseudohermaphroditism, Abnormality... |
ORPHA:847 |
Osteogenesis Imperfecta |
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Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, Abnormal... |
ORPHA:666 |
Ablepharon-Macrostomia Syndrome |
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Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Ambiguous genitalia, Hypoplastic l... |
OMIM:200110 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Monosomy 9Q22.3 |
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Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morphology, Abnormality of th... |
ORPHA:77301 |
Ciliary Dyskinesia, Primary, 9 |
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Male infertility, Absent outer dynein arms |
OMIM:612444 |
Mckusick-Kaufman Syndrome |
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Edema, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Pedal edema, Rectovaginal fis... |
OMIM:236700 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Fibrous Dysplasia Of Bone |
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Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... |
ORPHA:249 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
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Ambiguous genitalia, Abnormal mitochondrial shape, Clitoral hypertrophy |
ORPHA:543470 |
Pituitary Dermoid And Epidermoid Cysts |
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Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea |
ORPHA:91351 |
Myotonic Dystrophy 2 |
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Hypogonadism, Oligozoospermia |
OMIM:602668 |
Femoral-Facial Syndrome |
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Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
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Male infertility |
OMIM:618948 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ... |
OMIM:303600 |
Cardiac Diverticulum |
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Omphalocele, Umbilical hernia, Abdominal wall defect, Diastasis recti |
ORPHA:1686 |
Aspergillosis |
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Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology |
ORPHA:1163 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Unilateral cryptorchidism, Pericardial effusion, Cryptorchidism, Aplasia of the ut... |
OMIM:618280 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Desmosterolosis |
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Ambiguous genitalia, Hydrocephalus |
ORPHA:35107 |
Mosaic Variegated Aneuploidy Syndrome |
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Vaginal neoplasm, Polyhydramnios, Increased nuchal translucency, Holoprosencephaly, Ambiguous gen... |
ORPHA:1052 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
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Reduced sperm motility |
OMIM:615434 |
Bloom Syndrome |
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Male infertility, Premature ovarian insufficiency, Adipose tissue loss, Oligozoospermia, Azoospermia |
ORPHA:125 |
Penile Agenesis |
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Cryptorchidism, Atrophy of the spinal cord, Absent penis, Ambiguous genitalia, Oligohydramnios |
ORPHA:49 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Ambiguous genitalia, Cryptorchidism, Micropenis, Oligohydramnios |
OMIM:617641 |
Ring Chromosome 13 Syndrome |
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Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Anencephaly, Ambiguous genitalia, Micr... |
ORPHA:96176 |
Campomelic Dysplasia |
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Ambiguous genitalia, Male pseudohermaphroditism |
ORPHA:140 |
Ciliary Dyskinesia, Primary, 1 |
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Communicating hydrocephalus, Absent outer dynein arms, Male infertility |
OMIM:244400 |
Dextrocardia |
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Hydrocephalus, Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Myhre Syndrome |
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Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal epiphysis morphology, Short palm,... |
ORPHA:2588 |
Fraser Syndrome 2 |
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Ambiguous genitalia, Hypoplasia of the thymus, Oligohydramnios |
OMIM:617666 |
Ulbright-Hodes Syndrome |
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Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Hy... |
ORPHA:3404 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Hypospadias, Epispadias, Male pseudohermaphroditism, Hydrocephalus, Ab... |
ORPHA:2556 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Omphalocele |
ORPHA:436252 |
Smith-Lemli-Opitz Syndrome |
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Hypoplasia of penis, Hypospadias, Polyhydramnios, Cryptorchidism, Increased nuchal translucency, ... |
ORPHA:818 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Reduced progressive sperm motility |
OMIM:619608 |
Carney Complex |
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Ovarian dermoid cyst, Sertoli cell neoplasm, Dorsocervical fat pad, Testicular neoplasm, Precocio... |
ORPHA:1359 |
Smith-Lemli-Opitz Syndrome |
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Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryptorchidism, Hy... |
OMIM:270400 |
Pallister-Hall Syndrome |
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Small scrotum, Gonadotropin deficiency, Holoprosencephaly, Micropenis, Aplasia/hypoplasia of the ... |
ORPHA:672 |
Monosomy 9P |
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Ambiguous genitalia, Cryptorchidism, Hypospadias |
ORPHA:261112 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Male infertility |
ORPHA:2239 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Mucopolysaccharidosis Type 3 |
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Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus,... |
ORPHA:581 |
Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Patellar aplasia... |
ORPHA:2554 |
Fanconi Anemia, Complementation Group A |
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Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Cryptorchidism, Sh... |
OMIM:227650 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Craniosynostosis, Hydrocephalus, Abnormal rib morphology, Abnormal epip... |
ORPHA:667 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Noonan Syndrome 1 |
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Male infertility, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Synovitis, Hypogonadis... |
OMIM:163950 |
Hereditary Acrokeratotic Poikiloderma |
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Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Abnormal hip bone morphology... |
ORPHA:2907 |
Degcags Syndrome |
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Hypospadias, Polyhydramnios, Cryptorchidism, Chordee, Ambiguous genitalia |
OMIM:619488 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Gout, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas defe... |
OMIM:137920 |
Doors Syndrome |
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Adrenal hyperplasia, Polyhydramnios, Sirenomelia, Ambiguous genitalia, Spina bifida occulta |
ORPHA:79500 |
Oculocerebrorenal Syndrome Of Lowe |
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Kyphosis, Abnormal rib morphology, Hip dislocation, Genu valgum, Arthritis, Platyspondyly, Joint ... |
ORPHA:534 |
Autosomal Dominant Polycystic Kidney Disease |
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Reduced sperm motility |
ORPHA:730 |
Charge Syndrome |
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Aqueductal stenosis, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid fem... |
ORPHA:138 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
Wiskott-Aldrich Syndrome |
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Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
Kindler Epidermolysis Bullosa |
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Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Short 4th metacarpal, Short ... |
ORPHA:2908 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... |
ORPHA:544482 |
Alström Syndrome |
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Thoracic scoliosis, Hypergonadotropic hypogonadism, Dorsocervical fat pad, Precocious puberty in ... |
ORPHA:64 |
Sarcoidosis, Susceptibility To, 1 |
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Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
Cystic Fibrosis |
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Male infertility, Clubbing of fingers |
OMIM:219700 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Abnormality of T cell physiology |
ORPHA:2237 |