Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma, Pathologic fracture |
OMIM:614569 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteosarcoma, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Oslam Syndrome |
|
Osteosarcoma, Neoplasm, Radioulnar synostosis |
OMIM:165660 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Premature Aging Syndrome, Okamoto Type |
|
Osteosarcoma, Neoplasm, Osteoporosis |
OMIM:601811 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
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 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Oslam Syndrome |
|
Osteosarcoma, Radioulnar synostosis |
ORPHA:2760 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly, Limitation of joint... |
ORPHA:3314 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Diaphyseal corti... |
OMIM:112250 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases, Rhizom... |
ORPHA:1453 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Radial deviation of the 2nd finger, Propo... |
OMIM:112500 |
Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Hypochondroplasia |
|
Childhood onset short-limb short stature, Aplasia/hypoplasia of the extremities, Flared metaphysi... |
OMIM:146000 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Giant cell tumor of bone, Pathologic fracture, Neurofibromas, Ost... |
ORPHA:352540 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Reduced bone mineral density, Sh... |
ORPHA:2370 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Short stature, Renal agenesis, Camptodactyly of finger, Type B br... |
ORPHA:1471 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Short stature, Brachydactyly, Shor... |
OMIM:615072 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... |
ORPHA:3246 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Multiple Synostoses Syndrome |
|
Joint stiffness, Cone-shaped epiphysis, Brachydactyly, Symphalangism affecting the phalanges of t... |
ORPHA:3237 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Maffucci Syndrome |
|
Recurrent fractures, Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Br... |
ORPHA:163634 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hip dysplasia, Joint hyperf... |
ORPHA:9 |
Dentin Dysplasia |
|
Increased bone mineral density, Exostoses |
ORPHA:1653 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature... |
OMIM:609052 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Decreased response to growth hormone stimulation tes... |
OMIM:614732 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility |
OMIM:300719 |
Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Short statur... |
ORPHA:93430 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... |
ORPHA:145 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Delayed puberty |
OMIM:233270 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Short stature, Brachyd... |
OMIM:226900 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... |
OMIM:211369 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Disproportionate short-trun... |
OMIM:156530 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... |
OMIM:118651 |
Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Joint stiffness, Severe short... |
ORPHA:969 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Disproportionate short-limb short stature, Small hand, Cone-shap... |
OMIM:618618 |
Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
Hyperprolactinemia |
|
Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Short stature, Aplasia/Hypoplasia of t... |
ORPHA:2639 |
Werner Syndrome |
|
Osteosarcoma, Meningioma, Osteoporosis, Reduced bone mineral density |
OMIM:277700 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Neonatal short-limb short stature, Generalized joint l... |
OMIM:100800 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
17Q21.31 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Short nose, Sandal gap, Delayed puberty, Anteverted... |
ORPHA:217340 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Severe short statur... |
ORPHA:1240 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Short stature, Osteoarthritis, Abnormality of the epiphyses ... |
ORPHA:166002 |
Laron Syndrome |
|
Severe short stature, Short long bone, Delayed menarche, Limb undergrowth, Decreased serum insuli... |
OMIM:262500 |
Mast Cell Sarcoma |
|
Sarcoma, Hepatomegaly |
ORPHA:66661 |
Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation |
OMIM:264110 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Dent Disease 1 |
|
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... |
OMIM:300009 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the thumb, Short stature, Ectopic ossification, Short 5th finger, Brachyd... |
ORPHA:79445 |
Mental Retardation, X-Linked 91 |
|
Small hand, Short 5th finger, Short nose, Cubitus valgus, Clinodactyly, Short foot |
OMIM:300577 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Disproportionate short... |
OMIM:271530 |
Fibrous Dysplasia Of Bone |
|
Elevated circulating growth hormone concentration, Fibrous dysplasia of the bones, Thyroid carcin... |
ORPHA:249 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Glandular hypospadias, Brachydactyly, Postaxial hand polydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Severe short stature, Osteoarthritis of the elbow, Osteopenia, Brachytelomesophalangy,... |
ORPHA:2619 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... |
OMIM:300554 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Brachydactyly, Abnormal renal morphology, Limb undergrowth, Short nose, Sh... |
ORPHA:221054 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly |
ORPHA:1078 |
Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Microgna... |
ORPHA:3409 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Metaphyseal widening, Depressed nasal bridge, Brachydactyly, Limb undergrowth, Short ... |
OMIM:618961 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Depressed nasal bridge, Brachydactyly, Acromesomelia, Bowing of the long bones, ... |
ORPHA:40 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder morphology |
ORPHA:1277 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... |
ORPHA:1423 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Short toe, Mesomelic leg shortening, Toe clinodactyly, Camptodactyly... |
OMIM:300244 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Short stature, Coronal craniosynostosis, Micrognathia, Brachydactyly, Genu valgum, Sho... |
OMIM:614078 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short distal phalanx of finger, Short stature, Depressed nasal bridge, Short nose, Hypogonadism, ... |
OMIM:302950 |
Astley-Kendall Dysplasia |
|
Disproportionate short-limb short stature, Micromelia, Epiphyseal stippling |
ORPHA:85175 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of all distal pha... |
OMIM:616809 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Short stature, Flared m... |
OMIM:601561 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f... |
OMIM:251450 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Osteoporosis, Joint hyperflexibility |
ORPHA:2787 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... |
OMIM:618728 |
Greenberg Dysplasia |
|
Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calcifications, Abn... |
ORPHA:1426 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism |
OMIM:615983 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Internal hemorrhag... |
ORPHA:69077 |
Eng-Strom Syndrome |
|
Short stature, Camptodactyly of finger, Brachydactyly, Arthritis, Intrauterine growth retardation |
ORPHA:1937 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Short stature, Abnormality of the urinary system, Abnormality of ... |
ORPHA:2204 |
Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Micromelia, Small epiphyses... |
OMIM:184260 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Depre... |
OMIM:300863 |
Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism |
OMIM:212840 |
Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Depressed nasal ridge, Short stature, Hypoplasia of the r... |
ORPHA:950 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... |
OMIM:618435 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Disproportionate short-limb short stature, Limitation of joint mobility, Osteoarthriti... |
ORPHA:93351 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... |
ORPHA:240 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Micromelia, Severe short st... |
OMIM:250215 |
Hypochondroplasia |
|
Childhood onset short-limb short stature, Abnormality of femur morphology, Short toe, Osteoarthri... |
ORPHA:429 |
Hypertension And Brachydactyly Syndrome |
|
Short stature, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Decreas... |
ORPHA:1263 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Massively thickened long bone cortices, Short stature, Brachydactyly, Micromelia, Limb undergrowth |
OMIM:122900 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Short stature, Brach... |
OMIM:617927 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... |
OMIM:185700 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ... |
OMIM:609616 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauteri... |
OMIM:601560 |
Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Wide anterior fontanel, Short stature, Micrognathia, Depressed na... |
ORPHA:3098 |
Heart-Hand Syndrome Type 2 |
|
Joint stiffness, Abnormal morphology of ulna, Abnormality of the humerus, Brachydactyly, Micromel... |
ORPHA:1350 |
Short Stature-Obesity Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Micrognathia, Brachydactyly, Micromelia, Narrow no... |
OMIM:269870 |
Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Short stature, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphys... |
ORPHA:177 |
Langer Mesomelic Dysplasia |
|
Disproportionate short-limb short stature, Severe short stature, Abnormal morphology of ulna, Apl... |
ORPHA:2632 |
Jeune Syndrome |
|
Nephronophthisis, Short stature, Cone-shaped epiphysis, Brachydactyly, Nephropathy, Micromelia, P... |
ORPHA:474 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... |
ORPHA:370010 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnormal bone ossification, Slende... |
ORPHA:163649 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Talipes equinovarus, Short stature, Osteopenia, Camptodactyly of finger, Micrognathia, Brachydact... |
OMIM:211920 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Short stature, Aplasia/Hypoplasia of the fib... |
ORPHA:52056 |
Diastrophic Dysplasia |
|
Hip contracture, Disproportionate short-limb short stature, Hypoplastic cervical vertebrae, Talip... |
OMIM:222600 |
Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Roifman Syndrome |
|
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... |
ORPHA:353298 |
Autosomal Recessive Omodysplasia |
|
Abnormality of femur morphology, Abnormal metaphysis morphology, Craniosynostosis, Short stature,... |
ORPHA:93329 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Micrognathia, Brachydactyly, Wide nasal bridge, Broad thumb, Short metatarsal, ... |
ORPHA:1278 |
Brachydactyly, Combined B And E Types |
|
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... |
OMIM:112440 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Intrauterine growth retardation, Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyl... |
OMIM:614257 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification... |
OMIM:241530 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... |
OMIM:619489 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Short stature, Osteopenia, Avascular n... |
OMIM:190351 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis, Anteverted nares |
ORPHA:1450 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Delayed ossification of carpal bones, Short stature |
OMIM:618392 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Craniosynostosis, Short stature, Abnormality of the upper urinary tract, Micr... |
ORPHA:2145 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Abn... |
ORPHA:2928 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Craniosynostosis, Brachydactyly, ... |
ORPHA:1515 |
Peripheral Dysostosis |
|
Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing... |
ORPHA:1795 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Coloboma Of Macula With Type B Brachydactyly |
|
Renal agenesis, Type B brachydactyly, Bifid distal phalanx of the thumb, Broad distal phalanx of ... |
OMIM:120400 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Bulbous nose, Short phalanx of finger, Tapered finger, Long fingers, Camptodactyly, Sh... |
OMIM:613458 |
Dent Disease |
|
Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Proximal tubulopathy, Rena... |
ORPHA:1652 |
Summitt Syndrome |
|
Clinodactyly of the 5th finger, Depressed nasal ridge, Craniosynostosis, Camptodactyly of finger,... |
ORPHA:3210 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Hypogonadism |
OMIM:240950 |
Diastrophic Dysplasia |
|
Joint stiffness, Intrauterine growth retardation, Hypoplastic cervical vertebrae, Neonatal short-... |
ORPHA:628 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Feingold Syndrome Type 2 |
|
Short stature, Brachydactyly, Short middle phalanx of finger, Short thumb, Toe syndactyly |
ORPHA:391646 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Tetralogy Of Fallot |
|
Intrauterine growth retardation, Clinodactyly of the 5th finger, Brachydactyly, Abnormal nasal mo... |
ORPHA:3303 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Convex nasal ridge, Small hand, Cone-shaped epiphysis, Synostosis... |
ORPHA:3121 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Joint stiffness, Severe short-limb dwarfism, Brachydactyly, Bilateral single transverse palmar cr... |
ORPHA:968 |
Opsismodysplasia |
|
Joint stiffness, Hypoplastic vertebral bodies, Severe short stature, Abnormally ossified vertebra... |
ORPHA:2746 |
Desmoid Tumor |
|
Desmoid tumors, Fibroma, Intestinal polyposis, Gastrointestinal hemorrhage, Neoplasm of the skin |
ORPHA:873 |
Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Symphalangi... |
ORPHA:2741 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Arthralgia of the hip, Genu valgum, Joint stiffness, Metaphyseal spurs, Flat capital femoral epip... |
ORPHA:166011 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... |
OMIM:264700 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Bulbous nose, Severe short stature, Short metacarpal, Cone-sha... |
OMIM:102370 |
Smith-Magenis syndrome |
|
Brachydactyly, Short stature |
DECIPHER:8 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Image Syndrome |
|
Metaphyseal dysplasia, Hypospadias, Depressed nasal bridge, Micromelia, Adrenal hypoplasia, Hydro... |
ORPHA:85173 |
20Q11.2 Microdeletion Syndrome |
|
Adducted thumb, Brachydactyly, Finger clinodactyly, Camptodactyly, Intrauterine growth retardation |
ORPHA:444051 |
Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Brachydactyly, Osteoporosis, Prominent nose, Antev... |
OMIM:234250 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Subcutaneous ossification, Short stature, Elevated circulating parathyroid hormone lev... |
OMIM:103580 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly, Renal insufficiency |
OMIM:615995 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Depressed nasal bridge, Small epiphyses, Short long bone, Disproportionate shor... |
OMIM:611717 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Disproportionate short-trunk short stature, Premature ost... |
ORPHA:93314 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cone-shaped epiphysis, Depressed nasal bridge, Brachydactyly, Short phalanx of finge... |
OMIM:614613 |
Odontochondrodysplasia |
|
Short stature, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Square pelvis bone, Sho... |
ORPHA:166272 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma, Metrorrhagia |
ORPHA:314478 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Ulnar devi... |
ORPHA:2496 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... |
ORPHA:2098 |
Achondroplasia |
|
Bowing of the legs, Wide anterior fontanel, Abnormal iliac wing morphology, Narrow greater sciati... |
ORPHA:15 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short ribs, Hypopla... |
ORPHA:93296 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Micrognathia, Camptodactyly of finger, Bowing of th... |
OMIM:249710 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Emery-Nelson Syndrome |
|
Metacarpophalangeal joint contracture, Depressed nasal bridge, Camptodactyly of finger, Brachydac... |
ORPHA:1927 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Female hypogonadism |
ORPHA:397685 |
Metaphyseal Chondrodysplasia, Kaitila Type |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short toe, Metaphys... |
OMIM:250230 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Convex nasal ridge, Craniosynostosis, Short stature, Broad nasal ... |
OMIM:619451 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Pseudopseudohypoparathyroidism |
|
Short stature, Depressed nasal bridge, Brachydactyly, Osteoporosis, Pseudohypoparathyroidism, Sho... |
OMIM:612463 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notc... |
OMIM:602557 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Decreased cranial... |
OMIM:151210 |
Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Micropenis, Hypoplastic sacrum, Syndactyly... |
OMIM:113000 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... |
ORPHA:83469 |
Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Aplasia of the ... |
OMIM:113450 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Deviation... |
ORPHA:2831 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Melanoma, Synostosis involving bones of the upper limbs, Abnormal trabecular bone mor... |
ORPHA:221016 |
Achondrogenesis Type 1B |
|
Talipes equinovarus, Severe short stature, Micrognathia, Micromelia, Short nose, Short foot, Ante... |
ORPHA:93298 |
Craniosynostosis 3 |
|
Brachydactyly, Single transverse palmar crease, Sagittal craniosynostosis, Right unicoronal synos... |
OMIM:615314 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the ... |
ORPHA:1275 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... |
OMIM:609441 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Tibial bowing, Limitation of joint mobility, Abnormal iliac wing morphology... |
ORPHA:1427 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatocellular carcinoma |
ORPHA:882 |
Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorp... |
OMIM:277440 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Short stature, Broad nasal tip, Brachydactyly, Broad columella, Hypothyroidism, Broad thumb, Ante... |
OMIM:617763 |
Cornelia De Lange Syndrome 2 |
|
Short stature, Small hand, Micrognathia, Brachydactyly, Limited elbow movement, Anteverted nares,... |
OMIM:300590 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Severe short stature, Micrognathia, Micromelia, Short nose, Short foot, Ante... |
ORPHA:93299 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Short stature, Depressed nasal bridge, Osteoarthritis, Brachydactyly, Broad hallux, Hip osteoarth... |
OMIM:165800 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shape... |
ORPHA:439822 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal hip bone morphology, Camptodactyly of finger, Abnormal metacarpal morphology, Mesomelia,... |
ORPHA:2631 |
Thoracomelic Dysplasia |
|
Disproportionate short-limb short stature, Short ribs, Abnormality of fibula morphology, Limb und... |
ORPHA:1803 |
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Osteochondroma |
OMIM:127820 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Melanoma, Abnormal trabecular bone morphology, Squamous cell carcinoma, Myelodysplasi... |
ORPHA:221008 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Short stature, Brachydactyly, Secondary amenorrhea, Premature pubarche, Lower... |
OMIM:612847 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Brachydact... |
OMIM:612462 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Talipes equinovarus, Micropenis, Short stature, Hypospadias, Micrognathia, Brachydactyly, Short m... |
OMIM:612626 |
Werner Syndrome |
|
Telangiectasia of the skin, Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the or... |
ORPHA:902 |
Ruvalcaba Syndrome |
|
Short stature, Small hand, Micromelia, Short phalanx of finger, Limited elbow extension, Narrow n... |
OMIM:180870 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Decreased circulating osteocalcin level, Wide nose, Short nose, Central diabetes insi... |
OMIM:125700 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal, Short stature |
ORPHA:1276 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Bowing of the legs, Disproportionate short-limb short stature, Short stature, Limited elbow exten... |
ORPHA:156728 |
Brachydactyly Type E |
|
Short distal phalanx of finger, Short stature, Joint hyperflexibility, Upper limb asymmetry, Type... |
ORPHA:93387 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... |
OMIM:617102 |
Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long b... |
ORPHA:1505 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Hip dysplasia, Flexion contracture, Narrow nasal bridge |
OMIM:618379 |
Alopecia-Intellectual Disability Syndrome |
|
Flexion contracture, Short stature, Hypergonadotropic hypogonadism, Abnormal nasal morphology, Br... |
ORPHA:2850 |
Keipert Syndrome |
|
Broad distal phalanx of finger, Brachydactyly, Broad hallux, Broad thumb, Wide nose, Prominent no... |
OMIM:301026 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Micromelia, G... |
OMIM:215045 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Short stature, Brachydactyly, S... |
OMIM:613005 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... |
OMIM:608940 |
Coxoauricular Syndrome |
|
Abnormality of femur morphology, Reduced bone mineral density, Short stature, Micromelia, Abnorma... |
ORPHA:1508 |
Craniofrontonasal Dysplasia |
|
Clinodactyly of the 5th finger, Depressed nasal ridge, Craniosynostosis, Hypospadias, Broad hallu... |
ORPHA:1520 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Talipes equinovarus, Bifid humerus, Micrognathia, Depressed na... |
OMIM:256050 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Short stature, Micrognathia, Broad nasal tip, Brachydactyly, Camptodactyly, Mesomelia, Broad thum... |
OMIM:618529 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Talipes equinovarus, Micropenis, Recurrent upper respiratory tract infections, Congenital hip dis... |
OMIM:300209 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Osteopenia, Cone-sha... |
ORPHA:457395 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ... |
OMIM:101800 |
Hand-Foot-Genital Syndrome |
|
Short 1st metacarpal, Shortening of all middle phalanges of the fingers, Chordee, Clinodactyly of... |
OMIM:140000 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Overlapping toe, Craniosynostosis, Short stature, Femoral bowing, Osteopenia, Depressed nasal bri... |
OMIM:616723 |
Leri Pleonosteosis |
|
Joint stiffness, Abnormality of finger, Severe short stature, Camptodactyly of finger, Brachydact... |
ORPHA:2900 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Short stature, Cone-shaped epiphysis, Abnormality of bo... |
ORPHA:3156 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Micropenis, Brachydactyly, Single transverse palmar crease, Shor... |
OMIM:601224 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Depressed nasal bridge, Brachydactyly, Short nose, Choanal atresi... |
ORPHA:1914 |
Roifman Syndrome |
|
Hip contracture, Short toe, Clinodactyly of the 5th finger, Short stature, Brachydactyly, Irregul... |
OMIM:616651 |
Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Short stature, Short humerus, Micro... |
ORPHA:2019 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Severe short stature, Cone-shaped epiphysis, Abnormality... |
ORPHA:2511 |
Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone... |
ORPHA:289157 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Pulmonary arterial hypert... |
ORPHA:662 |
Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
Anauxetic Dysplasia 2 |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Flexion contracture, Short stature, Hyp... |
OMIM:617396 |
Subependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251636 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Intrauterine growth... |
OMIM:210720 |
Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
Laron Syndrome |
|
Short toe, Abnormality of the endocrine system, Severe short stature, Hypoplasia of penis, Depres... |
ORPHA:633 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... |
OMIM:614326 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Renal agenesis, Hypospadias, Craniosynostosis, Micrognathia, Depressed nasal bridge, ... |
ORPHA:171839 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Disproportionate short-limb shor... |
OMIM:269250 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short stature, Reduced bone mineral density, Spina bifida occulta, Slender long bone, Short nose,... |
ORPHA:1185 |
Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... |
OMIM:613073 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... |
OMIM:184250 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Depressed nasal bridge, Short nose, Short columella |
OMIM:155050 |
Kyphomelic Dysplasia |
|
Joint stiffness, Micrognathia, Micromelia, Large hands, Missing ribs, Bowing of the long bones, A... |
ORPHA:1801 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Short stature, Micrognathia, Brachydactyly, Camptodactyly, Short nose, Clinodactyly... |
OMIM:613604 |
Verheij Syndrome |
|
Growth delay, Short stature, Renal agenesis, Short 5th finger, Renal cyst, Renal hypoplasia, Shor... |
OMIM:615583 |
Codas Syndrome |
|
Short stature, Depressed nasal bridge, Hydroureter, Congenital hip dislocation, Brachydactyly, Jo... |
ORPHA:1458 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst, Hypogonadism |
OMIM:615982 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Short stature, Brachydactyly, Short phalanx of finger, Genu valgum, Coxa valga |
OMIM:132450 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Disproportionate short-limb short stature, Metaphyseal spurs, Dysplastic ilia... |
OMIM:608728 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Severe short ... |
ORPHA:93316 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Joint contracture of the hand, Depressed nasal ridge, Overlapping fingers, Micromelia, Anterior h... |
OMIM:601016 |
Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short toe, 2-3 toe syndactyly, Low hanging columella, Hypospadias, Cone-shaped epiphysis, Microgn... |
OMIM:618659 |
Microphthalmia With Limb Anomalies |
|
Flared nostrils, Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, ... |
OMIM:206920 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Partial duplication... |
ORPHA:363417 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Coxa vara, Abnormal femoral neck morphology, Flared iliac wing,... |
ORPHA:63446 |
Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydac... |
OMIM:193530 |
Mietens Syndrome |
|
Coxa vara, Joint stiffness, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Severe s... |
ORPHA:2557 |
Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... |
ORPHA:2633 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Microretrognathia, Micrognathia, Flattene... |
OMIM:618363 |
Rhyns Syndrome |
|
Chronic kidney disease, Radial bowing, Decreased response to growth hormone stimulation test, Nep... |
OMIM:602152 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Talipes equinovarus, Microretro... |
OMIM:236500 |
Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Osteoporosis, Squamous cell carcinoma, Osteosarcoma, Basal cell carcinoma, Cryp... |
OMIM:268400 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Phenobarbital Embryopathy |
|
Hypospadias, Abnormal nasal base, Brachydactyly, Aplasia/Hypoplasia of fingers |
ORPHA:1919 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:146110 |
Orofaciodigital Syndrome Vi |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Renal agenesis, Micrognathia, Short stature, B... |
OMIM:277170 |
Femoral-Facial Syndrome |
|
Coxa vara, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Short ... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Acetabular spurs, Chronic tubulointerstitial nephritis, Short stature, Metaphyseal widening, Brac... |
OMIM:614376 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Adducted thumb, Short femur, Micropenis, Flared ... |
OMIM:616897 |
Premature Aging Syndrome, Penttinen Type |
|
Osteopenia, Micrognathia, Brachydactyly, Narrow nose, Slender long bone, Osteolytic defects of th... |
OMIM:601812 |
Otopalatodigital Syndrome, Type I |
|
Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalanx of the thumb, Ab... |
OMIM:311300 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Coxa vara, Flared iliac wing, Flexion contracture, Short stature, Metaphyseal widening, Broad nas... |
OMIM:300232 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Severe ... |
OMIM:156400 |
Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Severe short stature, Craniosynostosis, Micrognathia, Brachydactyly, ... |
ORPHA:2645 |
Charlie M Syndrome |
|
Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal metacarpal morphology, Triphalangeal thu... |
ORPHA:1406 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Limited pronation/supination of forearm, Rhizo-meso-acromelic limb shortening, Short stature, Abn... |
ORPHA:163654 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Coxa vara, Tibial bowing, Distal femoral bowing, Abnormality of renal ex... |
ORPHA:289176 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Severe short stature, Hypoplasia of the radius, Broad hallux phalanx, Micromelia... |
ORPHA:2249 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Nephropathy, Short nose, Anteverted nares, Growth delay |
ORPHA:531 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Severe short stature, Micromelia, Short palm, Limitation of joint mobility |
ORPHA:168555 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short distal phalanx of finger, Low hanging columella, Hypoplastic sacrum, Small hand, Osteopenia... |
OMIM:614813 |
Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Synostosis of carpal bo... |
ORPHA:3250 |
Craniodigital-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Spina bifida occulta, Narrow nasal bridge, Short nose, Finger syndac... |
ORPHA:1514 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Reduced bone mineral density, Spina bifida occulta, Genu valgum, Short nose,... |
ORPHA:2983 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Renal hypoplasia/aplasia, Short stature, Micrognathia, Camptodactyly of fin... |
ORPHA:2863 |
Nicolaides-Baraitser Syndrome |
|
Abnormality of finger, Severe short stature, Broad distal phalanx of finger, Brachydactyly, Narro... |
ORPHA:3051 |
Moebius Syndrome |
|
Talipes equinovarus, Micropenis, Micrognathia, Hypogonadotropic hypogonadism, Depressed nasal bri... |
OMIM:157900 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Prominent nose, Brachydactyly, Wide nasal bridge |
OMIM:617169 |
Bone Dysplasia, Lethal Holmgren Type |
|
Abnormality of femur morphology, Metaphyseal dysplasia, Depressed nasal ridge, Short ribs, Abnorm... |
ORPHA:1842 |
Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Micropenis, Short stature, Broad nasal tip, Deep palmar crea... |
OMIM:602342 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... |
ORPHA:1529 |
Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Depressed nasal bridge, Polydactyly, Hypoplastic ischia, Short nose, Intrauterine gr... |
OMIM:616910 |
Hall-Riggs Syndrome |
|
Joint stiffness, Short stature, Brachydactyly, Limb undergrowth, Abnormal epiphysis morphology, P... |
ORPHA:2107 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Metaphyseal cupping, Short ribs, Short stature, Depressed nasal bridge, Iliac crest serration, Mi... |
OMIM:613320 |
Thanatophoric Dysplasia |
|
Joint stiffness, Intrauterine growth retardation, Disproportionate short-limb short stature, Abno... |
ORPHA:2655 |
Lowry-Wood Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Shallow acetabular fossae, Irregular epiphyses, Br... |
OMIM:226960 |
Mesomelic Dysplasia, Kantaputra Type |
|
Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru... |
ORPHA:1836 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Convex nasal ridge, Short stature, Arachnodactyly, Abnormality of the ureter, Micromelia, Genu va... |
ORPHA:1035 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Acromesomelic Dysplasia 2A |
|
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... |
OMIM:200700 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Acetabular spurs, Short ribs, Trident acetabulum, Short stature, Brachydactyly, Postaxial hand po... |
OMIM:617405 |
Al-Raqad Syndrome |
|
Sandal gap, Short nose, Brachydactyly, Joint laxity |
OMIM:616459 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Convex nasal ridge, Short stature, Hypopl... |
OMIM:617604 |
Mastocytosis |
|
Telangiectasia of the skin, Hepatomegaly, Arrhythmia, Hypotension, Sarcoma, Chronic leukemia, Gas... |
ORPHA:98292 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Micrognathia, Short nose, Short stature |
ORPHA:2015 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Flexion contracture, Short stature, Brachydactyly, Camptodactyly, Hammertoe, Short foot, Clinodac... |
OMIM:275900 |
Achondrogenesis |
|
Severe short stature, Micrognathia, Micromelia, Abnormality of bone mineral density, Short nose, ... |
ORPHA:932 |
Multiple Synostoses Syndrome 1 |
|
Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Symphalangism affecting the... |
OMIM:186500 |
Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Recurrent urinary tra... |
OMIM:244600 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Hypoplasia of penis, Hypogonadotropic hypogonadi... |
ORPHA:1295 |
Muenke Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Thimble-shaped middle phalanges of hand, Coro... |
OMIM:602849 |
C Syndrome |
|
Dislocated radial head, Renal cortical cysts, Short stature, Micrognathia, Micromelia, Fused ster... |
OMIM:211750 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Rhizomelia, Short metatarsal, Sh... |
OMIM:601438 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Bulbous nose, Elbow ankylosis, Decreased circulating androgen concentration, Craniosynostosis, De... |
ORPHA:95699 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Micrognathia, Depressed nasal bridge, Short nose, Toe syndactyly |
ORPHA:261120 |
Cooks Syndrome |
|
Split hand, Triphalangeal thumb, Brachydactyly, Broad thumb |
ORPHA:1487 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Small hand, Micrognathia, Depressed nasal bridge, Brachydactyly, ... |
ORPHA:444002 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, Camptodactyly, Postaxi... |
OMIM:136760 |
Atypical Werner Syndrome |
|
Ovarian neoplasm, Increased bone mineral density, Renal neoplasm, Reduced bone mineral density, N... |
ORPHA:79474 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Short stature, Micrognathia, Abnormality of the urinary system, Depressed nas... |
ORPHA:1695 |
Anauxetic Dysplasia 3 |
|
Wide anterior fontanel, Metaphyseal cupping, Severe short stature, Femoral bowing, Trident hand, ... |
OMIM:618853 |
Ciliary Dyskinesia, Primary, 41 |
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Infertility, Immotile sperm |
OMIM:618449 |
Laurence-Moon Syndrome |
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Type II diabetes mellitus, Hypoplasia of penis, Short stature, Brachydactyly, Bilateral single tr... |
ORPHA:2377 |
Osteogenesis Imperfecta, Type Xxii |
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Recurrent fractures, Reduced bone mineral density, Short stature, Slender long bone, Thin bony co... |
OMIM:619795 |
Acromesomelic Dysplasia 1 |
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Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... |
OMIM:602875 |
Osteoglophonic Dysplasia |
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Broad phalanx, Craniosynostosis, Depressed nasal bridge, Rhizomelia, Short nose, Bowing of the lo... |
OMIM:166250 |
Tuberous Sclerosis 2 |
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Optic nerve glioma, Subependymal nodules, Wolff-Parkinson-White syndrome, Subungual fibromas, Cor... |
OMIM:613254 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Camptodactyly of finger... |
ORPHA:2547 |
Anauxetic Dysplasia 1 |
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Hip contracture, Short toe, Delayed ossification of carpal bones, Severe short stature, Hypoplast... |
OMIM:607095 |
Pallister-Hall-Like Syndrome |
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Micropenis, Short ribs, Micrognathia, Depressed nasal bridge, Micromelia, Anterior hypopituitaris... |
OMIM:241800 |
Aarskog-Scott Syndrome |
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Testicular atrophy, Single transverse palmar crease, Short nose, Decreased serum testosterone con... |
OMIM:305400 |
Axial Spondylometaphyseal Dysplasia |
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Mild postnatal growth retardation, Osteopenia, Upper limb undergrowth, Disproportionate short-tru... |
ORPHA:168549 |
Pleuropulmonary Blastoma |
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Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Aredyld Syndrome |
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Type II diabetes mellitus, Short stature, Abnormal nasal morphology, Abnormality of the ureter, B... |
ORPHA:1133 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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2-3 toe syndactyly, Microretrognathia, Prominent nasal tip, Convex nasal ridge, Finger joint hype... |
OMIM:618870 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Severe short statu... |
ORPHA:93352 |
Baller-Gerold Syndrome |
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Osteosarcoma, Lymphoma |
ORPHA:1225 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
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Metaphyseal widening, Brachydactyly, Irregular epiphyses, Mesomelia, Broad thumb, Rhizomelia, Joi... |
OMIM:612813 |
17P13.3 Microduplication Syndrome |
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Clinodactyly of the 5th finger, Hypoplasia of penis, Congenital hip dislocation, Wide nose, Short... |
ORPHA:217385 |
Greenberg Dysplasia |
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Anterior rib punctate calcifications, Short metacarpal, Depressed nasal ridge, Depressed nasal br... |
OMIM:215140 |
Temtamy Syndrome |
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Short toe, Clinodactyly of the 5th finger, Convex nasal ridge, Micrognathia, Brachydactyly, Genu ... |
ORPHA:1777 |
Osteogenesis Imperfecta, Type Ii |
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Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Convex nasal ridge... |
OMIM:166210 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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Short stature, Micrognathia, Camptodactyly of finger, Short nose, Growth delay, Intrauterine grow... |
ORPHA:1495 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Dislocated radial head, Brachydactyly, Wide nasal bridge, Limited elbow extension and supination,... |
ORPHA:401935 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Heari |