Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Incisors, Rotation Of Upper Central |
|
Rotated maxillary central incisors |
OMIM:147350 |
Diastema, Dental Medial |
|
Diastema, Widely-spaced maxillary central incisors |
OMIM:125900 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Glioma Susceptibility 3 |
|
Medulloblastoma, Astrocytoma, Glioblastoma multiforme |
OMIM:613029 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... |
ORPHA:524 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Li-Fraumeni Syndrome 2 |
|
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma |
OMIM:609265 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Adrenocortical Carcinoma, Hereditary |
|
Choroid plexus carcinoma, Adrenocortical carcinoma |
OMIM:202300 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Mismatch Repair Cancer Syndrome 1 |
|
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... |
OMIM:276300 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Glioma Susceptibility 1 |
|
Ependymoma, Astrocytoma, Glioblastoma multiforme |
OMIM:137800 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Familial Multinodular Goiter |
|
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol... |
ORPHA:276399 |
Spermatogenic Failure 21 |
|
Infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617644 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility |
OMIM:617996 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... |
ORPHA:247806 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors |
OMIM:135290 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
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 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth |
OMIM:226650 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp |
OMIM:619787 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Familial Adenomatous Polyposis 1 |
|
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... |
OMIM:175100 |
Large Congenital Melanocytic Nevus |
|
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma |
ORPHA:626 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... |
ORPHA:79665 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Nephroblastoma, Pleuropulmonary blastoma, Ovarian thecoma, Embryonal rhabdomyosarcoma |
OMIM:180295 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ... |
OMIM:109400 |
Li-Fraumeni Syndrome |
|
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... |
OMIM:151623 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity |
OMIM:615988 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... |
OMIM:605967 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... |
OMIM:606719 |
Enchondromatosis, Multiple, Ollier Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:166000 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619878 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Monosomy 9Q22.3 |
|
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Palmar pits, Polydactyly, De... |
ORPHA:77301 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:617593 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... |
OMIM:150800 |
Omphalocele |
|
Omphalocele |
ORPHA:660 |
Familial Adenomatous Polyposis |
|
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... |
ORPHA:733 |
Birt-Hogg-Dube Syndrome |
|
Multiple lipomas, Large intestinal polyposis, Fibrofolliculoma, Sebaceous hyperplasia, Renal cell... |
OMIM:135150 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615983 |
Neurofibromatosis, Type I |
|
Spinal neurofibromas, Genu valgum, Astrocytoma, Aqueductal stenosis, Parathyroid adenoma, Spina b... |
OMIM:162200 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Turcot Syndrome With Polyposis |
|
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... |
ORPHA:99818 |
Spermatogenic Failure 35 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... |
OMIM:618341 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... |
ORPHA:443167 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head |
OMIM:243060 |
Spermatogenic Failure 44 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Reduced sperm motility, Acephalic spermatozoa |
OMIM:617187 |
Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
Colorectal Cancer |
|
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... |
OMIM:114500 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Medulloblastoma, Short thumb, Neuroblastoma |
OMIM:610832 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Hemangioma, Chondrosarcoma |
OMIM:614569 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Diastema, Cervical ribs, Brachydactyly, Single transverse palmar cre... |
OMIM:617927 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Pectus excavatum, Abnormality of hair text... |
ORPHA:1520 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:612997 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Subependymoma |
|
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the lung, Ependymoma, Neoplasm of the liver, Spinal cord tumor, Supratentorial neopla... |
ORPHA:251636 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormal ... |
ORPHA:294975 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia |
OMIM:619108 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
Spermatogenic Failure 46 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:617965 |
Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
Cutaneous Neuroendocrine Carcinoma |
|
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... |
ORPHA:79140 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Medulloblastoma |
|
Medulloblastoma, Cerebellar medulloblastoma, Cerebellar calcifications, Cerebellar cyst, Spinal c... |
ORPHA:616 |
Blue Rubber Bleb Nevus |
|
Cerebellar medulloblastoma, Intussusception, Volvulus, Hemangioma, Intestinal bleeding, Rectal pr... |
OMIM:112200 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
Chromosome 2Q31.1 Duplication Syndrome |
|
Triphalangeal thumb, Absent thumb, 3-4 finger cutaneous syndactyly, Short thumb, Talipes equinovarus |
OMIM:613681 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Wide anteri... |
ORPHA:3098 |
Spermatogenic Failure 72 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... |
OMIM:618153 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:619102 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Caudal Appendage-Deafness Syndrome |
|
Caudal appendage, Abnormal digit morphology, Cryptorchidism |
ORPHA:1123 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp |
ORPHA:79402 |
Aminopterin Syndrome Sine Aminopterin |
|
Brachycephaly, Joint contracture of the hand, Frontal upsweep of hair, Clinodactyly, Brachydactyl... |
OMIM:600325 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... |
ORPHA:3352 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Hamartoma, Toe syndactyly, Spina bifida occulta, Preaxial polyda... |
ORPHA:64754 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility |
OMIM:300719 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Enamel hypoplasia, High palate |
OMIM:617915 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Obesity, Postaxial polydactyly |
OMIM:615984 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, Hyperlordosis, Ulnar deviation of finger, Midface retrusion, Abnormal distal phala... |
ORPHA:1387 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Cornelia De Lange Syndrome 5 |
|
Brachycephaly, Deeply set eye, Small hand, Hypogonadism, Decreased testicular size, Toe syndactyl... |
OMIM:300882 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... |
ORPHA:447877 |
Spermatogenic Failure 70 |
|
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility |
OMIM:619828 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology |
OMIM:619696 |
Spermatogenic Failure 58 |
|
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... |
OMIM:619585 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:620084 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Obesity |
OMIM:615987 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Vertebral fusion, Wide anterior fontanel, Joint contracture of th... |
OMIM:113000 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Ulnar deviation of the wrist, Clinodactyly, Long eyelashes, Midface... |
OMIM:618577 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm |
OMIM:618670 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... |
ORPHA:790 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Prox... |
OMIM:609432 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma |
OMIM:613013 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Midface retrusion, Metacarpal synostosis, Hypertelorism, Proptosis, Brachydactyly |
ORPHA:35099 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:301059 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly |
OMIM:615938 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
Non-Distal Trisomy 10Q |
|
Brachycephaly, Frontal bossing, Pectus excavatum, Hypertelorism, Scoliosis, Cryptorchidism |
ORPHA:1695 |
Exostoses, Multiple, Type Ii |
|
Genu valgum, Coxa vara, Short metacarpal, Chondrosarcoma, Scapular exostoses, Pelvic bone exostos... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Genu valgum, Coxa vara, Short metacarpal, Chondrosarcoma, Scapular exostoses, Pelvic bone exostos... |
OMIM:133700 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Mandibular prognathia, High palate, Pierre-Robin sequence, Hip contracture, Mi... |
OMIM:618363 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis |
ORPHA:488191 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel |
OMIM:203550 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Polycystic kidney dysplasia, ... |
OMIM:617866 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... |
ORPHA:1646 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
Spermatogenic Failure 56 |
|
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... |
OMIM:619515 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Familial Multiple Lipomatosis |
|
Overgrowth, Medulloblastoma, Odontogenic keratocysts of the jaw, Bowing of the long bones |
ORPHA:199276 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Glioma Susceptibility 9 |
|
Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung |
OMIM:616568 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Heimler Syndrome 2 |
|
Amelogenesis imperfecta, Dental crowding |
OMIM:616617 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Phakomatosis Pigmentokeratotica |
|
Nephroblastoma, Basal cell carcinoma, Pheochromocytoma, Hemangioma, Patchy alopecia, Cutaneous me... |
ORPHA:2874 |
Carpenter Syndrome |
|
Polydactyly, Genu valgum, Oxycephaly, Finger syndactyly, Turricephaly, External genital hypoplasi... |
ORPHA:65759 |
Pierpont Syndrome |
|
Brachycephaly, Short toe, High anterior hairline, Deeply set eye, Short foot, Short finger, Midfa... |
OMIM:602342 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Spinal cord tumor, Lipoma, Rhabdomyosarcoma |
ORPHA:35125 |
Spermatogenic Failure 42 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... |
OMIM:618745 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Deeply set eye, Tapered finger, Kyphosis, Self-injurious behavior, Anxiety, ... |
OMIM:618512 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... |
OMIM:618643 |
Trichodental Dysplasia |
|
Conical tooth, Hypodontia, Odontodysplasia |
OMIM:601453 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Biemond Syndrome Type 2 |
|
Hydrocephalus, Obesity, Preaxial polydactyly |
ORPHA:141333 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones |
OMIM:600384 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
X-Linked Intellectual Disability, Siderius Type |
|
Preaxial hand polydactyly, Decreased testicular size, Synophrys, Scoliosis, Cryptorchidism, Low p... |
ORPHA:85287 |
Acquired Ichthyosis |
|
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm |
ORPHA:454 |
Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth |
ORPHA:248 |
7P22.1 Microduplication Syndrome |
|
Hypertelorism, Cryptorchidism |
ORPHA:314034 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short toe, Thickened calvaria, Scheuermann-like vertebral changes, Tapered finger, Deeply set eye... |
OMIM:301900 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Retrognathia, Radial deviation of the hand, Long philtrum, Cleft soft pal... |
ORPHA:2756 |
Pierpont Syndrome |
|
Brachycephaly, Short toe, High anterior hairline, Deeply set eye, Short finger, Hypertelorism, Ex... |
ORPHA:487825 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Limb joint contracture, Atypic... |
ORPHA:251393 |
Maffucci Syndrome |
|
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... |
ORPHA:163634 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Thick lower lip vermilion, Microdontia of primary teeth, U-Shaped upper lip ve... |
OMIM:234250 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... |
OMIM:619379 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Obtuse angle of mandible, Thin bony cortex, Coxa valga, High palate, Wide ant... |
ORPHA:85184 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Cone-shaped epiphysis, Postaxial polydactyly, Thoracic hypoplasia, Short long bo... |
OMIM:613091 |
Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair, Tapered finger, Hypogonadism, Hypoplasia of penis, Cryptorchidism, Micropenis |
ORPHA:85274 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,... |
OMIM:269300 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral clavicle hook, Ace... |
OMIM:617405 |
Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair, Deeply set eye, Small hand, Hypogonadism, Premature ovarian insufficiency, Decr... |
ORPHA:261483 |
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 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... |
ORPHA:2325 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux, Hirsutism, Postaxial hand polydactyly, Scaphocephaly, Preaxial foot polydactyly, Ca... |
OMIM:175700 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... |
ORPHA:1946 |
Gorlin Syndrome |
|
Palmar pits, Brachycephaly, Vertebral fusion, Melanocytic nevus, Vertebral wedging, Brachydactyly... |
ORPHA:377 |
Acrodysostosis |
|
Brachycephaly, Melanocytic nevus, Epiphyseal stippling, Midface retrusion, Abnormality of the nai... |
ORPHA:950 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Oligodontia, Joint contracture of the 5th finger, Discolored lateral inci... |
OMIM:601668 |
Muenke Syndrome |
|
Brachycephaly, Short middle phalanx of toe, Plagiocephaly, Capitate-hamate fusion, Coronal cranio... |
OMIM:602849 |
Zimmermann-Laband Syndrome 3 |
|
Triphalangeal thumb, Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2... |
OMIM:618658 |
Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth |
ORPHA:79405 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Fixed elbow flexion, Micrognathia, Fragmented epiphyses, D... |
ORPHA:166016 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Tapered finger, Short foot, Emotional lability, Cryptorchidism, Thick eyebrow |
OMIM:309585 |
Congenital Myopathy 13 |
|
Brachycephaly, Flexion contracture, Fatty replacement of skeletal muscle, Midface retrusion, Kyph... |
OMIM:255995 |
Gordon Syndrome |
|
Camptodactyly of finger, Decreased muscle mass, Finger syndactyly, Clinodactyly of the 5th finger... |
ORPHA:376 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Kyphosis, Bipolar affective disorder, Frontal bossing, Pectus excavatum, Hypertel... |
ORPHA:276630 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... |
OMIM:617960 |
Spermatogenic Failure 65 |
|
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... |
OMIM:619712 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Brachycephaly, 2-3 toe syndactyly, Precocious puberty, Deeply set eye, Aggressive behavior, Hypog... |
ORPHA:3306 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615982 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... |
ORPHA:220460 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism |
OMIM:618110 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Nat... |
OMIM:617925 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Brachycephaly, Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Hypospadias, Sandal gap, Scolio... |
OMIM:615761 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Basal Cell Carcinoma, Susceptibility To, 1 |
|
Basal cell carcinoma |
OMIM:605462 |
Trichodentoosseous Syndrome |
|
Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachycephaly, Hyperlordosis, Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing... |
ORPHA:2511 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
Hao-Fountain Syndrome |
|
Aggressive behavior, Hallux valgus, Clinodactyly of the 5th finger, Cryptorchidism, Trigonocephal... |
OMIM:616863 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... |
ORPHA:380 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Long philtrum, Wide anterior fontanel, Coxa valga, Abnormality of cranial sutures, M... |
ORPHA:163649 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 2-3 finger syndactyly, 2-4 finger syndactyly, Camptodactyly, 1-4 f... |
OMIM:225280 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, High palate, Micrognathia, Overlapping toe, Preaxial polydactyly, Overlapping finge... |
OMIM:618142 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... |
OMIM:619528 |
Ollier Disease |
|
Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ... |
ORPHA:296 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Stomach cancer, Abnormality of the upper limb, Multicystic kidney dysplasia, Myel... |
ORPHA:1052 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Horizontal ribs, Bell-shaped thorax, Encephalocele, Natal tooth, Short long bone, Sh... |
OMIM:616300 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cryptorchidism |
OMIM:274205 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Retrognathia, Wrist flexion contracture, Knee flexion contracture, High ... |
OMIM:619110 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
Atkin-Flaitz Syndrome |
|
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... |
ORPHA:1193 |
Potocki-Shaffer Syndrome |
|
Brachycephaly, Parietal foramina, Sparse lateral eyebrow, Turricephaly, 2-5 finger cutaneous synd... |
OMIM:601224 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ... |
OMIM:601216 |
Infantile Myofibromatosis |
|
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... |
ORPHA:2591 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... |
ORPHA:90652 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... |
ORPHA:523 |
2Q32Q33 Microdeletion Syndrome |
|
Brachycephaly, Aggressive behavior, Anxiety, Decreased testicular size, Clinodactyly of the 5th f... |
ORPHA:251019 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Nephroblastoma, Short sternum, Multicystic kidney dysplasia, Micrognathia, Hydrocephalus, Embryon... |
OMIM:257300 |
Nijmegen Breakage Syndrome |
|
Lymphoma, Medulloblastoma, 2-3 toe syndactyly, Micrognathia, Malar prominence, Sinusitis, Sandal ... |
OMIM:251260 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth |
ORPHA:79406 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... |
OMIM:600175 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
Trisomy 4P |
|
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Hypospadias, Short neck, Hy... |
ORPHA:1738 |
Acrofrontofacionasal Dysostosis 2 |
|
Brachycephaly, Sacral dimple, Bifid scrotum, Shawl scrotum, Widow's peak, Hand polydactyly, Broad... |
OMIM:239710 |
Laurence-Moon Syndrome |
|
Brachycephaly, Finger syndactyly, Hand polydactyly, Hypoplasia of penis, Brachydactyly, Cryptorch... |
ORPHA:2377 |
1Q21.1 Microduplication Syndrome |
|
Hip dysplasia, Hip dislocation, Frontal bossing, Hypospadias, Hypertelorism, Cryptorchidism, Arth... |
ORPHA:250994 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Low posterior hairline, Clinodactyly of the 5th finger, Abnormality of t... |
ORPHA:3080 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma, Verrucae |
OMIM:618267 |
Gómez-López-Hernández Syndrome |
|
Brachycephaly, Toenail dysplasia, Turricephaly, Midface retrusion, Alopecia of scalp, Hypertelorism |
ORPHA:1532 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Abnormal pelvic girdle b... |
ORPHA:474 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Infertility, Hypogonadism |
OMIM:240950 |
Spermatogenic Failure 63 |
|
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
48,Xyyy Syndrome |
|
Enamel hypoplasia, High palate, Long philtrum, Thick lower lip vermilion, Irregularly spaced teeth |
ORPHA:99329 |
Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia |
OMIM:619831 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Congenital Central Hypoventilation Syndrome |
|
Neoplasm of the central nervous system, Aganglionic megacolon, Ganglioneuroma, Neuroblastoma, Gan... |
ORPHA:661 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Obesity, Large for gestational age, Postaxial foot polydactyly |
OMIM:617119 |
19P13.12 Microdeletion Syndrome |
|
Brachycephaly, Precocious puberty, Finger syndactyly, Kyphosis, Self-injurious behavior, Craniosy... |
ORPHA:254346 |
Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism |
OMIM:219050 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth |
ORPHA:2643 |
Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
Recombinant Chromosome 8 Syndrome |
|
Brachycephaly, Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5th finger, Midf... |
OMIM:179613 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Brachycephaly, Precocious puberty, Coxa valga, Broad hallux, Hirsutism, Short neck, Short palm, H... |
OMIM:620073 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
2Q23.1 Microdeletion Syndrome |
|
Brachycephaly, Paroxysmal bursts of laughter, Self-injurious behavior, Hip dysplasia, Synophrys, ... |
ORPHA:228402 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Conical incisor, Enamel hypoplasia, Carious teeth |
OMIM:614564 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Pseudodiastrophic Dysplasia |
|
Brachycephaly, Hypoplasia of the odontoid process, Camptodactyly, Midface retrusion, Elbow disloc... |
OMIM:264180 |
48,Xxxy Syndrome |
|
Brachycephaly, Coxa valga, Hip dislocation, Elbow dislocation, Short neck, Talipes equinovarus, H... |
ORPHA:96263 |
Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Lateral cla... |
ORPHA:1801 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Flexion contracture, Kyphosis, Clinodactyly, Dolichocephaly, Single transverse palmar crease, Sho... |
ORPHA:178148 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Dolichocephaly, Frontal bossing, Ovoid vertebral bodi... |
ORPHA:40 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp |
OMIM:226670 |
Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Postaxial hand po... |
OMIM:252100 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia |
ORPHA:98797 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Decreased palmar creases, Brachycephaly, Kyphosis, Clinodactyly of the 5th finger, Hypertelorism,... |
OMIM:615834 |
Nijmegen Breakage Syndrome |
|
Lymphoma, B-cell lymphoma, Anal atresia, Neoplasm, Skeletal muscle atrophy, Acute leukemia, Cleft... |
ORPHA:647 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Dolichocephaly, Proptosis, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Isochromosomy Yq |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Decr... |
ORPHA:98798 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Widely patent coronal suture, Short palm,... |
OMIM:228520 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of the hand, Tall stature, Diap... |
ORPHA:3152 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Aplasia/Hypoplasia of the eyebrow, Kyphosis, Toe syndactyly, Aplasia/Hypoplasi... |
ORPHA:3082 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Hypospadias, Postaxial polydactyly, Hypogonadism |
OMIM:615985 |
Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, Curly hair, Tapered finger, Plagiocephaly, Deeply set eye, Aggressive behavior, Hi... |
OMIM:619435 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Short ribs, Thoracic dysplasia, Femoral bowing, Syndactyly, Preaxial polydactyly... |
OMIM:615503 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
Grant Syndrome |
|
Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fo... |
ORPHA:2097 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Brachydactyly, Type B2 |
|
Absent phalangeal crease, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Filippi Syndrome |
|
Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Thin vermilion border,... |
OMIM:272440 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Hypogonadism, Decreased testicular size, Congenital muscular dystrophy, Abnormality of ... |
ORPHA:1875 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Bohring-Opitz Syndrome |
|
Nephroblastoma, Medulloblastoma, Retrognathia, Ulnar deviation of the wrist, Fixed elbow flexion,... |
ORPHA:97297 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Parastremmatic Dwarfism |
|
Genu valgum, Flexion contracture, Kyphosis, Short neck, Scoliosis, Bowing of the long bones |
OMIM:168400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Small hand, Kyphosis, Hip dislocation, Hypertelorism, Hirsutism, Scoliosis, Short foot, Talipes e... |
OMIM:300434 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... |
OMIM:618729 |
Cornelia De Lange Syndrome 2 |
|
Brachycephaly, Limited elbow movement, Small hand, Synophrys, Clinodactyly, Long eyelashes, Thick... |
OMIM:300590 |
Arthrogryposis, Distal, Type 4 |
|
Distal arthrogryposis, Tibial deviation of toes, Lumbar scoliosis, Kyphosis, 2-5 finger cutaneous... |
OMIM:609128 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Brachycephaly, Plagiocephaly, Shawl scrotum, Decreased testicular size, Dolichocephaly, Hypertelo... |
OMIM:615433 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79411 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia... |
ORPHA:166108 |
Bowen-Conradi Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Rocker bottom foot, Cryptorchidism |
ORPHA:1270 |
17Q11 Microdeletion Syndrome |
|
Myelodysplasia, Plexiform neurofibroma, Thickened cortex of long bones, Multiple mucosal neuromas... |
ORPHA:97685 |
Desmoid Tumor |
|
Fibroma, Malabsorption, Neoplasm of the skin, Intestinal polyposis, Intestinal obstruction, Desmo... |
ORPHA:873 |
Seckel Syndrome 5 |
|
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... |
OMIM:613823 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Brachycephaly, Tapered finger, Small hand, Plagiocephaly, Deeply set eye, Hip dysplasia, Clinodac... |
OMIM:618672 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Hydrolethalus Syndrome 2 |
|
Preaxial foot polydactyly, Micrognathia, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, ... |
OMIM:614120 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Carpenter Syndrome 1 |
|
Brachycephaly, Precocious puberty, Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, ... |
OMIM:201000 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
2-3 toe syndactyly, Midface retrusion, Metatarsus adductus, Frontal balding, Blue irides, Lumbar ... |
ORPHA:3041 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Porokeratosis |
|
Squamous cell carcinoma of the skin |
ORPHA:79358 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... |
OMIM:618484 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Turricephaly, Toe syndactyly, Craniosynostosis, Radioulnar synostosis, Hypospadias... |
ORPHA:171839 |
Mulibrey Nanism |
|
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, H |