| Gombo Syndrome |
|
Microphthalmia, Radial deviation of finger, Microcephaly, Brachydactyly, Clinodactyly |
OMIM:233270 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... |
OMIM:186000 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Macrocephaly, Megalencephaly, Hydrocephalus, Polymicrogyria, Postaxial hand polydactyly, Syndacty... |
OMIM:615938 |
| Syndactyly, Type Iv |
|
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... |
OMIM:186200 |
| Syndactyly Type 1 |
|
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... |
ORPHA:93402 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... |
OMIM:186100 |
| Triphalangeal Thumb With Polysyndactyly |
|
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... |
OMIM:190605 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph... |
ORPHA:3246 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly |
OMIM:234280 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped met... |
OMIM:174200 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... |
ORPHA:3269 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1891 |
| Camptosynpolydactyly, Complex |
|
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly |
OMIM:607539 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Microcephaly, Toe sy... |
ORPHA:64754 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Microphthalmia/Coloboma 5 |
|
Bilateral microphthalmos, Microphthalmia, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microcephaly, Microphthalmia |
OMIM:616335 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis |
OMIM:235550 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
| Brachydactyly Type A7 |
|
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... |
ORPHA:93397 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Microcephaly, ... |
OMIM:613885 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Jawad Syndrome |
|
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... |
OMIM:251255 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Ventric... |
OMIM:615524 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... |
ORPHA:957 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Mmep Syndrome |
|
Microcephaly, Microphthalmia, Triphalangeal thumb, Split foot |
ORPHA:3434 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Syndactyly Type 5 |
|
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Finger syndactyly, Camptodactyly of finger, Short toe |
ORPHA:93404 |
| Congenital Varicella Syndrome |
|
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Micromelia |
ORPHA:291 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Microcephaly, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of ... |
OMIM:600384 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Microphthalmia, Microcephaly, Agenesis of corpus callosum, Cerebellar hypopla... |
OMIM:616570 |
| Microphthalmia/Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Oculocerebrocutaneous Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Dandy-Walker malformation, Orbit... |
OMIM:164180 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Acalvaria |
|
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Aplasia/Hypoplasia of... |
ORPHA:945 |
| Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... |
OMIM:102510 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... |
OMIM:618167 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:71289 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasi... |
OMIM:615771 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... |
ORPHA:93320 |
| Frontal Encephalocele |
|
Macrocephaly, Encephalocele, Hydrocephalus, Cerebral calcification, Spina bifida, Aplasia/Hypopla... |
ORPHA:1931 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Spina bifida, Dermatoglyphic ridges abnormal, Small hypothenar eminence, Small the... |
OMIM:211960 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... |
OMIM:609432 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... |
ORPHA:157801 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... |
OMIM:605289 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia |
OMIM:600776 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Proximal placement of thumb, Anophthalmia,... |
ORPHA:139471 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb |
ORPHA:2935 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands |
OMIM:185900 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g... |
OMIM:206920 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand, Dilated cardiomyopathy, Cli... |
OMIM:610140 |
| Humero-Radial Synostosis |
|
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Meningocele, Microc... |
ORPHA:3265 |
| Microcephaly-Cardiomyopathy |
|
Microcephaly, Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap |
OMIM:251220 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... |
ORPHA:488232 |
| Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... |
ORPHA:93323 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... |
OMIM:615297 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Radioulnar synostosis, Abnormali... |
ORPHA:3268 |
| Burkitt Lymphoma |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality ... |
ORPHA:543 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, ... |
ORPHA:1528 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity |
OMIM:618406 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele, Agenesis of cerebellar vermis |
OMIM:213010 |
| Greig Cephalopolysyndactyly Syndrome |
|
Macrocephaly, Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad ha... |
ORPHA:380 |
| 15Q11Q13 Microduplication Syndrome |
|
Finger syndactyly, Macrocephaly, Clinodactyly of the 5th finger |
ORPHA:238446 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Abnormal metacarpal morphology, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the t... |
ORPHA:1113 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly |
OMIM:610023 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly |
OMIM:225300 |
| Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... |
ORPHA:166119 |
| Fanconi Anemia, Complementation Group G |
|
Microcephaly, Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... |
OMIM:183600 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Abnormality of the gastrointestinal tract, Lymphadenopathy |
ORPHA:52416 |
| Meckel Syndrome, Type 2 |
|
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, ... |
OMIM:603194 |
| Joubert Syndrome 22 |
|
Hypoplasia of the corpus callosum, Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly... |
OMIM:615665 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic tra... |
ORPHA:858 |
| Meckel Syndrome, Type 4 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydro... |
OMIM:611134 |
| Melorheostosis |
|
Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Failure to thrive, Ecto... |
ORPHA:2485 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... |
OMIM:611561 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... |
ORPHA:2790 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Lisse... |
OMIM:218670 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Abnormal vertebral morphology, Hypospadias, Hypoplasia of penis, Anophthalmia, He... |
ORPHA:77298 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Seckel Syndrome 2 |
|
Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Basal ganglia calcification, Heart ... |
OMIM:606744 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Osteoporosis, Increased bone density with cystic... |
OMIM:136300 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Abnormal left ventricular function, Focal cort... |
OMIM:613155 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc... |
ORPHA:2839 |
| Lissencephaly 8 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Polymicrogyria, Type ... |
OMIM:617255 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Microphthalmia, Megalencephaly, Cavum septum pellucidum, Hydrocephalus, Polymicrogyr... |
OMIM:602501 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Macrocephaly, Spindle-shaped finger, Genu va... |
ORPHA:166024 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Feingold Syndrome Type 2 |
|
Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly |
ORPHA:391646 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy |
OMIM:616126 |
| Hydrolethalus |
|
Microphthalmia, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydactyly, Micromelia,... |
ORPHA:2189 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Agenesis of corpus call... |
OMIM:182230 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
| Schisis Association |
|
Anencephaly, Encephalocele, Micromelia, Microcephaly, Spina bifida |
ORPHA:63862 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses |
OMIM:166740 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... |
OMIM:603546 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones |
ORPHA:564003 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... |
ORPHA:1617 |
| Bardet-Biedl Syndrome 22 |
|
Microcephaly, Polydactyly, Macrocephaly, Postaxial foot polydactyly |
OMIM:617119 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger |
OMIM:313350 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal small intestine morphology |
ORPHA:100025 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... |
OMIM:607634 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Cubitus valgus, Scapular winging, Spina bifida, Microcephaly, Camptodactyly of finger, Short toe,... |
ORPHA:1327 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cerebral atrophy, Microphthalmia, Microcephaly, Hypoplasia of the pons, Simplified gyral pattern,... |
OMIM:616171 |
| Czeizel-Losonci Syndrome |
|
Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Ectrodact... |
ORPHA:2437 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
| Sclerosteosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis |
ORPHA:3152 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Cerebellar hypoplasia, Type II lissencephaly, Microphthalmia |
OMIM:614830 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx |
OMIM:605967 |
| Mueller-Weiss Syndrome |
|
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... |
ORPHA:566943 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly |
OMIM:615984 |
| Curry-Jones Syndrome |
|
Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, A... |
ORPHA:1553 |
| Immunodeficiency 104 |
|
Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
| Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Lymphadenopathy, Gastroesophageal reflux |
ORPHA:99976 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
| Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia |
OMIM:615113 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Xk Aprosencephaly Syndrome |
|
Microcephaly, Microphthalmia, Abnormal morphology of the radius |
ORPHA:3469 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Hartsfield Syndrome |
|
Microphthalmia, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hypoplasia of the rad... |
ORPHA:2117 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... |
OMIM:620135 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... |
ORPHA:444463 |
| Trisomy 13 |
|
Microphthalmia, Anophthalmia, Scoliosis, Aplasia/Hypoplasia of the iris, Kyphosis, Cryptorchidism... |
ORPHA:3378 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Temtamy Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Aplasia/H... |
ORPHA:1777 |
| Beta-Thalassemia |
|
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... |
ORPHA:848 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Macrocephaly, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Metaphyseal cupp... |
OMIM:300863 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po... |
OMIM:136760 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Macrocephaly at birth, Occipital encephalocele, Microphthalmia, Hydrocephalus, Type II lissencephaly |
ORPHA:324416 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology |
ORPHA:3319 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... |
ORPHA:65759 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Triphalangeal thumb, Proxi... |
ORPHA:1120 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Volvulus, R... |
ORPHA:335 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microcephaly, Microphthalmia |
OMIM:278780 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Hemochromatosis, Type 1 |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... |
OMIM:235200 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s... |
ORPHA:1908 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad thumb, Syndactyly, Umbilical hernia, Hydrocephalus, Postaxial hand polydactyly, Broad hallu... |
OMIM:175700 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... |
ORPHA:370010 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Microphthalmia, Syndromic 8 |
|
Microcephaly, Microphthalmia, Split foot |
OMIM:601349 |
| Braddock-Carey Syndrome 2 |
|
Microcephaly, Microphthalmia, Clinodactyly |
OMIM:619981 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ... |
OMIM:225280 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... |
OMIM:166600 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Microphthalmia, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... |
OMIM:243150 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microcephaly, Microphthalmia |
ORPHA:2528 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele |
OMIM:615397 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis, Vaginal mucosal ulceration |
OMIM:618287 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Abnormal cortical gyration, Macrocephaly, Lissencephaly, Hydrocephalus, Dandy-Wal... |
ORPHA:899 |
| Cofs Syndrome |
|
Microphthalmia, Cerebral calcification, Microcephaly, Cerebral cortical atrophy, Camptodactyly of... |
ORPHA:1466 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Isolated Split Hand-Split Foot Malformation |
|
Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand |
ORPHA:2440 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... |
ORPHA:210110 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Cortical dysplasia, Microphthalmia, Toe syndactyly |
ORPHA:261272 |
| Hypomelanosis Of Ito |
|
Cerebral atrophy, Radial deviation of finger, Macrocephaly, Microcephaly, Hand polydactyly, Synda... |
OMIM:300337 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly, Median cleft palate |
ORPHA:2432 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... |
OMIM:619126 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho... |
OMIM:169550 |
| Trisomy 1Q |
|
Macrocephaly, Anophthalmia, Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Toe syndactyl... |
ORPHA:261344 |
| Proximal Symphalangism |
|
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... |
ORPHA:3250 |
| Adams-Oliver Syndrome 3 |
|
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Microcephaly, Short palm, Short ... |
OMIM:614814 |
| Long Qt Syndrome 8 |
|
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... |
OMIM:618447 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:611377 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Pulmonary arterial hypertension, M... |
OMIM:300887 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... |
ORPHA:83469 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Microcephaly, Broad palm, Macrocephaly, Spina bifida |
OMIM:620439 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... |
ORPHA:2378 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Microphthalmia, Hepatomegaly, Cryptorchidism, Ventricular septal defect, Optic disc pallor |
OMIM:613730 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... |
ORPHA:1106 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Microcephaly, Syndactyly, Pa... |
OMIM:619091 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia |
OMIM:618852 |
| Fountain Syndrome |
|
Macrocephaly, Abnormal metacarpal morphology, Spina bifida occulta, Spina bifida, Large hands, Co... |
ORPHA:3219 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis |
OMIM:122860 |
| Warburg Micro Syndrome 1 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cerebellar vermis hypoplasia... |
OMIM:600118 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Intes... |
OMIM:619608 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... |
OMIM:613673 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ... |
ORPHA:54251 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Congenital Rubella Syndrome |
|
Atrial septal defect, Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the i... |
ORPHA:290 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Microcephaly, Absent thumb |
OMIM:617244 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Macrocephaly, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly |
OMIM:615877 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
| Curry-Jones Syndrome |
|
Microphthalmia, Megalencephaly, Polymicrogyria, Triphalangeal hallux, Lipomyelomeningocele, Hemim... |
OMIM:601707 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Aminopterin Syndrome Sine Aminopterin |
|
Megalencephaly, Macrocephaly, Microcephaly, Arachnodactyly, Rudimentary postaxial polydactyly of ... |
OMIM:600325 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... |
OMIM:603552 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... |
OMIM:144750 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Solitary Median Maxillary Central Incisor |
|
Microcephaly, Microphthalmia, Holoprosencephaly, Anophthalmia |
OMIM:147250 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... |
OMIM:617927 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Cerebral atrophy, Microphthalmia, Microcephaly, Simplified gyral pattern, Pachygyria, Cerebellar ... |
OMIM:251270 |
| Neu-Laxova Syndrome 2 |
|
Rocker bottom foot, Finger syndactyly, Spina bifida, Microcephaly, Toe syndactyly, Cerebellar hyp... |
OMIM:616038 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... |
ORPHA:846 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Scoliosis, Kyphosis, Cryptorchidism, Male hypogonadism |
ORPHA:90322 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hyp... |
OMIM:615181 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Toe syndactyly |
DECIPHER:46 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... |
ORPHA:2141 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po... |
OMIM:607361 |
| Chiari Malformation Type Ii |
|
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Agenesis of co... |
OMIM:207950 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... |
OMIM:619375 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, ... |
ORPHA:163966 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Abnormal cortical gyration, Deep palmar crease, Prominent fingertip... |
ORPHA:487825 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida |
ORPHA:63260 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hypoplasia of the corpus callosum, Megalencephaly, Macrocephaly, Abnormally large globe, Hydrocep... |
OMIM:603387 |
| Periventricular Nodular Heterotopia 1 |
|
Hypoplasia of the corpus callosum, Short finger, Thin corpus callosum, Cerebral hemorrhage, Synda... |
OMIM:300049 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... |
ORPHA:2470 |
| Microphthalmia, Syndromic 13 |
|
Microcephaly, Microphthalmia |
OMIM:300915 |
| Beta-Thalassemia Intermedia |
|
Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ... |
ORPHA:231222 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Hemiverte... |
OMIM:206900 |
| Joubert Syndrome 16 |
|
Polydactyly, Dandy-Walker malformation, Encephalocele |
OMIM:614465 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia, Thin corpus callosum, Cubitus valgus, Camptodactyly, Microcephaly, Down-sloping s... |
OMIM:619694 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplas... |
OMIM:613153 |
| Immunodeficiency 76 |
|
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis |
OMIM:619164 |
| Moebius Syndrome |
|
Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C... |
OMIM:157900 |
| Summitt Syndrome |
|
Short 4th metacarpal, Macrocephaly, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3210 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... |
ORPHA:319487 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Kyphoscoliosis, Macroorchidism |
OMIM:300886 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Microphthalmia, Macrocephaly, Hydrocephalus, Polymicrogyria, Single transverse ... |
OMIM:614219 |
| Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia |
ORPHA:66625 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... |
OMIM:135750 |
| Pierpont Syndrome |
|
Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Microcephaly, Short p... |
OMIM:602342 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger |
ORPHA:376 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Co... |
OMIM:613101 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o... |
ORPHA:93267 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Sandal gap, Joint contracture of the 5th finge... |
OMIM:618914 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Hydrocephalus, Elbow flexion contracture, Short foot, Spina bifida, ... |
OMIM:613776 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoi... |
OMIM:161200 |
| Vacterl With Hydrocephalus |
|
Microphthalmia, Abnormal fallopian tube morphology, Abnormal form of the vertebral bodies, Anopht... |
ORPHA:3412 |
| Nephronophthisis 15 |
|
Cerebellar vermis hypoplasia, Polydactyly |
OMIM:614845 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... |
ORPHA:97290 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... |
OMIM:602450 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis |
OMIM:610125 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Camptobrachydactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:1319 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
| Grange Syndrome |
|
Short palm, Hypertension, Aortic regurgitation, Syndactyly |
ORPHA:79094 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the ovary, Abnormal form of the vertebral bodies, Endometriosis, Vertebral segmentatio... |
ORPHA:3109 |
| Immunodeficiency 52 |
|
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... |
OMIM:617514 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec... |
OMIM:618652 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Rocker bottom foot, Adducted thumb, Bilateral microphthalmos, Flexion contracture of toe, Flared ... |
OMIM:610758 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis |
OMIM:231095 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... |
OMIM:615559 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Intestinal h... |
OMIM:601346 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Hypoplasia of the iris, Finger syndactyly, Short clavicles, Split hand, Hypoplast... |
ORPHA:2092 |
| Al-Gazali-Bakalinova Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Macrocephaly, Genu valgum, Tapered finger, Epiphy... |
OMIM:607131 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal tricuspid valve morphology, Intestinal atresia, Ventricular septal defect, Duode... |
ORPHA:3405 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Abnormally large globe, Lissencephaly, Hydrocephalus, Progressive microcephaly, T... |
OMIM:615249 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly |
ORPHA:66661 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormal cortical gyration, Abnormal metacarpal morphology, Anophthalmia, Abnorma... |
ORPHA:2538 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Abnormality of the hand, Microph... |
ORPHA:508498 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Decreased libido, Infert... |
ORPHA:465508 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Microphthalmia, Finger clinodactyly, Deep palmar crease, Dandy-Walker malform... |
ORPHA:99776 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Microphallus, Bone... |
OMIM:603467 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Agenesis... |
OMIM:614815 |
| Meckel Syndrome |
|
Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dandy-Walker malformatio... |
ORPHA:564 |
| Microphthalmia, Syndromic 9 |
|
Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Bicornuate u... |
OMIM:601186 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calc... |
OMIM:109400 |
| Monosomy 5P |
|
Microcephaly, Finger syndactyly, Small hand |
ORPHA:281 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Intestinal obstruction, Male infertility, Hepatomegaly, Abnormal lymph ... |
ORPHA:85450 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... |
OMIM:614470 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of the corpus callosum, Macrocephaly, Encephalocele, Anophthalmia, Cerebellar vermis h... |
OMIM:605627 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... |
OMIM:273250 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Hypoplasia of the corpus callosum, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the pha... |
OMIM:617102 |
| Caudal Duplication |
|
Spinal cord lesion, Myelomeningocele, Spina bifida |
ORPHA:1756 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Abnormal intestine morph... |
ORPHA:397596 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Optic disc hypoplasia, Esophageal atresia, Tracheoesophageal fistula, Hypergonad... |
OMIM:300514 |
| Brachydactyly, Type B1 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... |
OMIM:113000 |
| Adams-Oliver Syndrome |
|
Periventricular leukomalacia, Gastrointestinal hemorrhage, Microphthalmia, Abnormal metacarpal mo... |
ORPHA:974 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Anencephaly, Dandy-Walker malformation, Postaxial hand polydactyly, Camp... |
OMIM:614175 |
| Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
| Joubert Syndrome 14 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Meningocele, Cerebellar vermis ... |
OMIM:614424 |
| Ziegler-Huang Syndrome |
|
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... |
OMIM:620501 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Abnormally large gl... |
ORPHA:1655 |
| Cousin Syndrome |
|
Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl... |
OMIM:260660 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia |
OMIM:613977 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Sickle Cell Disease |
|
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... |
OMIM:603903 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... |
OMIM:300244 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele... |
ORPHA:93322 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, High palate, Splenomegaly, Cardiomegaly |
OMIM:269920 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly |
OMIM:114150 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Spina bifida |
ORPHA:2345 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Diabetic Embryopathy |
|
Hydrocephalus, Microcephaly, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Aplasia/Hyp... |
ORPHA:1926 |
| 14Q22Q23 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... |
ORPHA:264200 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... |
OMIM:615513 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Oligodactyly, Forearm undergrowth, Micromelia, Microcephaly,... |
OMIM:251230 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Res... |
ORPHA:88630 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... |
OMIM:612840 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Cerebral calcification, Porencephal... |
ORPHA:1393 |
| Orofaciodigital Syndrome Iv |
|
Cerebral atrophy, Short finger, Porencephalic cyst, Foot polydactyly, Postaxial polydactyly, Hand... |
OMIM:258860 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:545 |
| Trisomy 18 |
|
Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Abnormal hip bone morpho... |
ORPHA:3380 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... |
OMIM:300853 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Umbilical hernia, Ulnar... |
ORPHA:1101 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Microphthalmia, Symphalangism affecting the phalanges of the hand |
ORPHA:2547 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Macrocephaly, Hydrocephalus, Polymicrogyria, Finger syndactyly, Cerebral ischemia, Foot polydacty... |
ORPHA:60040 |
| Iniencephaly |
|
Rocker bottom foot, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-W... |
ORPHA:63259 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, In... |
OMIM:618280 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microcephaly, Camptodactyly of finger, Microphthalmia, Rocker bottom foot |
OMIM:610756 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... |
OMIM:618534 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Bresek Syndrome |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand polydactyly, Microcephaly |
ORPHA:85284 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Flexion contracture of toe, Finger joint contracture, Cerebral cortical atrophy, ... |
ORPHA:48431 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Absent distal phalanges, Microphthalmia, Small hand |
OMIM:619339 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Immunodeficiency 27A |
|
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... |
OMIM:209950 |
| Boomerang Dysplasia |
|
Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Finger synd... |
ORPHA:1263 |
| Familial Pancreatic Carcinoma |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Intestinal ps... |
ORPHA:1333 |
| Fryns Syndrome |
|
Microphthalmia, Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Duodenal atresia, Ec... |
ORPHA:2059 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Microcephaly, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplasia of the corpus callosum, Preaxial polydactyly, Bilateral talipes equinovarus, Microceph... |
OMIM:618142 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Upper limb asymmetry, Relative macrocephaly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Temtamy Syndrome |
|
Microphthalmia, Aortic regurgitation, Short 2nd toe, Agenesis of corpus callosum, Brachydactyly, ... |
OMIM:218340 |
| Kimura Disease |
|
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy |
ORPHA:482 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Short neck, Abnorm... |
ORPHA:1797 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly |
ORPHA:99742 |
| Neu-Laxova Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Primary microcephaly, Clinodactyl... |
OMIM:256520 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly |
ORPHA:1406 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis, Congenital hypothyroidism |
ORPHA:88643 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cerebral cortical atrophy, Syringomyelia, Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Macrocephaly, Finger syndactyly, Microcephaly, Brachydactyly, Clinodactyly |
ORPHA:313781 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... |
ORPHA:363417 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Cryptorchidism, Hypogonadism, Retinal coloboma |
OMIM:601794 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:300946 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Anal atresia, Bicuspid aort... |
OMIM:619318 |
| Dominant Beta-Thalassemia |
|
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... |
ORPHA:231226 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Meckel diverticulum, Pancreatic hypoplasia, Cholestasis, Intes... |
OMIM:615710 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu... |
OMIM:214150 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplasia of the corpus callosum, Y-shaped metacarpals, Postaxial polydactyly, Mesoaxial hand po... |
OMIM:615996 |
| Schnitzler Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly |
ORPHA:37748 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Mic... |
OMIM:614837 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... |
ORPHA:52901 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Pulmonic stenosis, Cardiomegaly, Right... |
OMIM:306955 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Failure ... |
OMIM:259700 |
| Sandestig-Stefanova Syndrome |
|
Hypoplasia of the corpus callosum, Bilateral single transverse palmar creases, Rocker bottom foot... |
OMIM:618804 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Protein... |
OMIM:608104 |
| Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Polydactyly |
OMIM:616490 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| Cat-Eye Syndrome |
|
Microphthalmia, Hip dysplasia |
ORPHA:195 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Vaginal atresia, Anophthalmia |
OMIM:248450 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Microcephaly, Split foot, Umbilical... |
OMIM:305600 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L... |
OMIM:603909 |
| Holoprosencephaly |
|
Spinal cord tumor, Microphthalmia, Macrocephaly, Encephalocele, Anophthalmia, Hydrocephalus, Dand... |
ORPHA:2162 |
| Neuralgic Amyotrophy |
|
Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Partial duplication of thumb phala... |
OMIM:617926 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th... |
ORPHA:1692 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Beta-Thalassemia Major |
|
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... |
ORPHA:231214 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Microcephaly,... |
OMIM:614833 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells |
OMIM:618982 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Type II lissencep... |
ORPHA:370959 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia, Proximal placement of thumb, Cerebral white matter atrophy, Pulmonic stenosis, Br... |
ORPHA:435638 |
| Ring Chromosome 21 Syndrome |
|
Narrow palm, Microcephaly, Holoprosencephaly, Syndactyly, Clinodactyly, Small hand |
ORPHA:1445 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| 3Q29 Microduplication Syndrome |
|
Microphthalmia, Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Microcephaly, Camptodac... |
ORPHA:251038 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Siderobl... |
OMIM:222300 |
| Complete Androgen Insensitivity Syndrome |
|
Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma... |
ORPHA:99429 |
| Martsolf Syndrome 1 |
|
Periventricular white matter hyperintensities, Congestive heart failure, Microphthalmia, Slender ... |
OMIM:212720 |
| Immunodeficiency 54 |
|
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... |
OMIM:609981 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly, Tricuspid regurgitation |
OMIM:600151 |
| Rhombencephalosynapsis |
|
Polydactyly, Macrocephaly, Hydrocephalus, Finger syndactyly, Septo-optic dysplasia, Short phalanx... |
ORPHA:59315 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Short hallux, Finger syndactyly, Broad thum... |
ORPHA:93258 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... |
OMIM:613011 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Monosomy 18P |
|
Microphthalmia, Hypertension, Microcephaly, Holoprosencephaly, Brachydactyly |
ORPHA:1598 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:1352 |
| Joubert Syndrome 7 |
|
Genu valgum, Encephalocele, Abnormal corpus callosum morphology, Postaxial hand polydactyly, Post... |
OMIM:611560 |
| Craniofrontonasal Dysplasia |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,... |
ORPHA:1520 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Houge-Janssens Syndrome 2 |
|
Hypoplasia of the corpus callosum, Hydrocephalus, Microcephaly, Postaxial polydactyly, Broad hall... |
OMIM:616362 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Oral leukoplakia, Testicu... |
OMIM:613987 |
| Warburg Micro Syndrome 2 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Global brain atrophy, Clinodactyly of ... |
OMIM:614225 |
| Leishmaniasis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... |
ORPHA:507 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Microcephaly, Bilateral microphthalmos, Diffuse cerebral atrophy, Corpus callosum atrophy |
ORPHA:77299 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Joubert Syndrome 37 |
|
Microphthalmia, Hepatomegaly, High palate, Decreased testicular size, Cryptorchidism, Micropenis |
OMIM:619185 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Triphalangeal thumb, Abnormal metacarpal morphology, Finger synda... |
ORPHA:392 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... |
OMIM:601859 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Lymphadenopathy, Elevated circulating alanine aminotransferase concentration, Asple... |
OMIM:614034 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Primary Myelofibrosis |
|
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... |
ORPHA:824 |
| Limb Body Wall Complex |
|
Short umbilical cord, Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Encepha... |
ORPHA:2369 |
| Joubert Syndrome 33 |
|
Macrocephaly, Syndactyly |
OMIM:617767 |
| Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Microphthalmia, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:614583 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Decrea... |
OMIM:614856 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... |
ORPHA:210122 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hypoplasia of the corpus callosum, Adducted thumb, Macrocephaly, Microphthalmia, Encephalocele, L... |
OMIM:614643 |
| Frontorhiny |
|
Microphthalmia, Encephalocele, Camptodactyly of finger, Basal encephalocele, Brachydactyly, Peric... |
ORPHA:391474 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met... |
ORPHA:85167 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia |
OMIM:617784 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased bone mineral density, Small for gestational age, Coronal craniosynostosis |
OMIM:616943 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Cryptorchidis... |
OMIM:618494 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Hypoplasia of penis, Retinal coloboma, Intestinal malrotation, Tetralogy of Fallo... |
ORPHA:2328 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Flexion contracture, Exaggerated startle response |
OMIM:618201 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Tr... |
OMIM:619879 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Sirenomelia |
|
Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida |
ORPHA:3169 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Microcephaly, Arachnodactyly, Camptodactyly of finger, Sh... |
ORPHA:2994 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... |
ORPHA:90797 |
| Gracile Bone Dysplasia |
|
Microphthalmia, Aniridia, Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly |
OMIM:602361 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin... |
OMIM:619135 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi... |
ORPHA:93284 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... |
ORPHA:98848 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia |
OMIM:240500 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... |
OMIM:609945 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa... |
OMIM:618935 |
| Garg-Mishra Progeroid Syndrome |
|
Secondary microcephaly, Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa ... |
OMIM:620601 |
| Orofaciodigital Syndrome Ii |
|
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus... |
OMIM:252100 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Microphthalmia, Optic nerve hypoplasia, Microlissencephaly, Sm... |
OMIM:617914 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Syndactyly |
OMIM:615284 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Anal stenosis, Lymphadenopathy, Anal canal squamous cell carcinoma, Neoplasm of ... |
ORPHA:424019 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Lymphangiectasis, Hepatomegaly, Steatorrhea, Protein-losing enteropathy, Villous atrop... |
OMIM:602579 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Macrocephaly, Clinodactyly of the 5th finger, Genu valgum, Prominent fingertip pads, Microcephaly... |
OMIM:619721 |
| Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
| Roifman Syndrome |
|
Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic... |
ORPHA:353298 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... |
ORPHA:400 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly |
ORPHA:2584 |
| Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonadal calcification |
ORPHA:314473 |
| Weaver Syndrome |
|
Abnormal metaphysis morphology, Macrocephaly, Sandal gap, Finger syndactyly, Broad thumb, Camptod... |
ORPHA:3447 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... |
OMIM:308240 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Aniridia, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Str... |
OMIM:194072 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Anemia, Lymphadenopathy, Ileus, Decreased FOXP3-expressing T cell count, Hypothy... |
OMIM:304790 |
| Fanconi Anemia, Complementation Group S |
|
Microcephaly, Clinodactyly, Microphthalmia, Proximal placement of thumb |
OMIM:617883 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Anencephaly, Encephalocele, Dandy-Walker malformation, Single transverse palmar c... |
OMIM:619148 |
| Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Microphthalmia, Slender long bone, Hypertension, Pulmonary arterial hype... |
OMIM:234100 |
| Fryns Syndrome |
|
Microphthalmia, Aganglionic megacolon, Hypospadias, Esophageal atresia, Meckel diverticulum, Bifi... |
OMIM:229850 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Microcephaly, Broad thumb, Broad... |
OMIM:613684 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Microcephaly, Broad thumb, Foot po... |
ORPHA:250989 |
| Cartilage-Hair Hypoplasia |
|
Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho... |
ORPHA:175 |
| Microphthalmia, Syndromic 2 |
|
Hypoplasia of the corpus callosum, 2-3 toe cutaneous syndactyly, Microphthalmia, Hammertoe, Sanda... |
OMIM:300166 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Microcephaly, Arachnodactyly, Clinodactyly, Syndactyly |
OMIM:619092 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Broad proximal phalang... |
OMIM:607597 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b... |
ORPHA:2788 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epith... |
OMIM:611040 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi... |
OMIM:256550 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... |
ORPHA:436159 |
| Limb-Mammary Syndrome |
|
Split hand, Camptodactyly, Split foot, Syndactyly, Hallux valgus, Joint contracture of the hand |
OMIM:603543 |
| Down Syndrome |
|
Delayed puberty, Narrow palate, Aganglionic megacolon, Neutrophilia, Secundum atrial septal defec... |
ORPHA:870 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho... |
ORPHA:251014 |
| Pseudomyxoma Peritonei |
|
Intestinal obstruction, Inflammation of the large intestine, Lymphadenopathy, Abnormal peritoneum... |
ORPHA:26790 |
| Campomelic Dysplasia |
|
Dislocated radial head, Hypoplastic iliac wing, Relative macrocephaly, Femoral bowing, Short long... |
OMIM:114290 |
| Majeed Syndrome |
|
Increased bone mineral density, Cachexia, Synovitis, Failure to thrive, Flexion contracture, Weig... |
ORPHA:77297 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... |
ORPHA:100026 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... |
OMIM:615387 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... |
OMIM:619802 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Brachydactyly |
OMIM:613819 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv... |
OMIM:265380 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microcephaly, Global brain atrophy, Microphthalmia |
OMIM:308350 |
| Lig4 Syndrome |
|
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, H... |
ORPHA:99812 |
| Fanconi Anemia |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Aplasia/Hypoplasia of fingers, Abnormal femur ... |
ORPHA:84 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... |
OMIM:614841 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Cinca Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia |
OMIM:607115 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Abnormality of the hand, Microphthalmia, Inferior cerebellar vermis hypoplasia, Clin... |
OMIM:607932 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anophthalmia, Scoliosis, Cryptorchidism, Male hypogonadism |
ORPHA:90321 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Tr... |
OMIM:607323 |
| Pseudotrisomy 13 Syndrome |
|
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, 2-3 toe syndactyly, Postaxial hand ... |
OMIM:264480 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypoplasia of the corpus callosum, Microphthalmia, Thin corpus callosum, Single transverse palmar... |
OMIM:614105 |
| Kapur-Toriello Syndrome |
|
Microphthalmia, Ventricular septal defect, Retinal coloboma, Intestinal malrotation, Cleft palate... |
OMIM:244300 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Cavum septum pellucidum, Relative m... |
OMIM:617306 |
| Mogs-Cdg |
|
Optic atrophy, Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secr... |
ORPHA:79330 |
| Congenital Myopathy 8 |
|
Cardiomegaly, High palate |
OMIM:618654 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... |
OMIM:605282 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Microphthalmia, Hypospadias, Gastroesophageal reflux, Cryptorchidism, Abnormal hea... |
ORPHA:494344 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia, Abnormality of the vertebral column |
OMIM:601076 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Crohn's disease, Splenomegaly, Atroph... |
OMIM:616100 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Epispadias, Tricuspid valve prolapse, Sacral dimple, Clitoral hypertrophy, Hypospadias, Abnormal ... |
ORPHA:2556 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... |
OMIM:607594 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... |
ORPHA:911 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u... |
ORPHA:163649 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Cleft palate, High palate, Hypogonadotropic hypogonadism |
ORPHA:1135 |
| Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Pulmonic valve myxoma, Cardiomegaly |
ORPHA:615 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport... |
ORPHA:98850 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
| Trisomy 20P |
|
Abnormal hip bone morphology, Finger syndactyly, Spina bifida, Camptodactyly of finger, Brachydac... |
ORPHA:261318 |
| Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol... |
ORPHA:2671 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Laryngeal dystonia, Increased bone density with cystic changes, D... |
ORPHA:94089 |
| Heart And Brain Malformation Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Global brain atrophy, Microphthalmia, Cerebe... |
OMIM:616920 |
| Stevenson-Carey Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Camptodactyly, Hip dysplasia, Cerebellar hypop... |
OMIM:611961 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... |
OMIM:612561 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ... |
OMIM:608184 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Lympha... |
OMIM:602782 |
| Dextrocardia |
|
Situs inversus totalis, Dextrocardia, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malr... |
ORPHA:1666 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Small placenta, Clinodactyly of the 5th finger, Relative macrocephaly, Ectrodactyly,... |
ORPHA:397590 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry... |
ORPHA:2250 |
| Griscelli Syndrome |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Pyloric stenosis, Bone marrow hypocellularity, Leukopeni... |
ORPHA:381 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
| Diastrophic Dysplasia |
|
Joint stiffness, Joint hypermobility, Camptodactyly of finger, Increased bone mineral density |
ORPHA:628 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia |
ORPHA:56425 |
| Pelger-Huet Anomaly |
|
Polydactyly, Short 4th metacarpal, Macrocephaly, Upper limb undergrowth, Short 3rd metacarpal, Um... |
OMIM:169400 |
| Ring Chromosome 10 Syndrome |
|
Microphthalmia, Tapered finger, Sandal gap |
ORPHA:1438 |
| Cat Eye Syndrome |
|
Microphthalmia, Tricuspid atresia, Rectal fistula, Rectal atresia, Biliary atresia, Anal stenosis... |
OMIM:115470 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, 2-3 toe s... |
ORPHA:2712 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia |
OMIM:620282 |
| Feingold Syndrome |
|
Annular pancreas, Esophageal atresia, Abnormality of the spleen, Duodenal atresia |
ORPHA:1305 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, Cerebellar vermis hypoplasia, Polymicrogyria, Tibial... |
OMIM:277170 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Encephalocele, Hypoplastic acetabulae, S... |
OMIM:134780 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, Ventricular septal defect,... |
OMIM:235255 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... |
ORPHA:79302 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Macrocephaly, Cerebellar vermis hypoplasia, Ce... |
OMIM:616538 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Albers-Schönberg Osteopetrosis |
|
Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibular osteomyeli... |
ORPHA:53 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... |
OMIM:212050 |
| Filippi Syndrome |
|
Finger clinodactyly, Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Cutaneous... |
OMIM:272440 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Thrombocytopenia... |
OMIM:619151 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... |
ORPHA:85188 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Overlapping fingers, Microphthalmia, Cavum s... |
ORPHA:464738 |
| Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal... |
OMIM:615122 |
| Aicardi Syndrome |
|
Microphthalmia, Proximal placement of thumb, Cavum septum pellucidum, Cerebellar vermis hypoplasi... |
OMIM:304050 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... |
OMIM:212140 |
| Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Macroglossia, Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
| Mulibrey Nanism |
|
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Microglossia, Cardiomegaly, Pigmenta... |
OMIM:253250 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... |
OMIM:150550 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia, Abnormal gastrointestinal tract morphology, Cryptorchidism, Intestinal malrotatio... |
ORPHA:404440 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndact... |
OMIM:236500 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Scoliosis, Hemivertebrae, Aplasia of the uterus, Absent external genitalia... |
OMIM:271520 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Arrhythmia |
ORPHA:3191 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Radial club hand, Triphalangea... |
ORPHA:959 |
| Castleman Disease |
|
Intestinal obstruction, Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormali... |
ORPHA:160 |
| Marden-Walker Syndrome |
|
Microphthalmia, Inferior cerebellar vermis hypoplasia, Dandy-Walker malformation, Camptodactyly, ... |
OMIM:248700 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Dysosteosclerosis |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... |
ORPHA:1782 |
| Meacham Syndrome |
|
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... |
ORPHA:3097 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Elevated circulati... |
OMIM:257200 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
| American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly, ... |
ORPHA:3386 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... |
OMIM:147750 |
| Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Microcephaly, Absent thumb, Sho... |
OMIM:609053 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia, Microcephaly, Aortic valve stenosis, Duplication of phalanx of hallux, Pachygyria... |
OMIM:243310 |
| Jacobsen Syndrome |
|
Cerebral atrophy, Macrocephaly, Finger syndactyly, Spina bifida, Aortic valve stenosis, Toe clino... |
ORPHA:2308 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Acetabular spurs, Postaxial ... |
OMIM:615503 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Relative macrocephaly, Hypoplastic ilia, Micromelia, Postaxial polydact... |
OMIM:617895 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... |
OMIM:600649 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| 6P22 Microdeletion Syndrome |
|
Hydrocephalus, Finger syndactyly, Clinodactyly |
ORPHA:251046 |
| Myoclonic-Astatic Epilepsy |
|
Microcephaly, Microphthalmia, Syndactyly |
ORPHA:1942 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... |
OMIM:301078 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... |
OMIM:607765 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... |
ORPHA:3226 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion... |
OMIM:614700 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Umbilical herni... |
OMIM:304120 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Bone spicule pigmentation of the retina, Aganglionic megacolon, High palate,... |
OMIM:209900 |
| Sickle Cell Anemia |
|
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... |
ORPHA:232 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Oral leukoplakia, Testicular a... |
OMIM:618165 |
| Roifman Syndrome |
|
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu... |
OMIM:616651 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Microphthalmia, Hypospadias, Ovotestis, Histiocyt... |
OMIM:309801 |
| Poems Syndrome |
|
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero... |
ORPHA:2905 |
| Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... |
ORPHA:398063 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevat... |
ORPHA:264580 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po... |
OMIM:217085 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... |
OMIM:619846 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... |
OMIM:620642 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... |
OMIM:300755 |
| Alg6-Cdg |
|
Jaundice, Protein-losing enteropathy, Abnormality of the liver, Increased circulating androgen co... |
ORPHA:79320 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia, Aplasia of the thymus |
ORPHA:3004 |
| Holoprosencephaly 9 |
|
Microphthalmia, Thin corpus callosum, Abnormal cortical gyration, Alobar holoprosencephaly, Hydro... |
OMIM:610829 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Preaxial polydactyly, Distal shortening of limbs, Microphthalmia, Y-shaped ... |
OMIM:146510 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... |
OMIM:259710 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor |
OMIM:619170 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Microcephaly, Aortic valve stenosis, Mitral stenosis, Spinal dysraphism |
OMIM:617660 |
| Feingold Syndrome 1 |
|
Annular pancreas, Tricuspid atresia, Gastrointestinal atresia, Esophageal atresia, Accessory sple... |
OMIM:164280 |
| Acrofrontofacionasal Dysostosis 2 |
|
Microcephaly, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly |
OMIM:239710 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... |
OMIM:250790 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:391 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Spina bifida occulta, Scoliosis, Bifid uterus |
OMIM:617466 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... |
ORPHA:276 |
| Cloacal Exstrophy |
|
Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Myelomeningocele, Spina bifid... |
ORPHA:93929 |
| Pfeiffer Syndrome |
|
3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of the fingers, F... |
OMIM:101600 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Abnormal... |
OMIM:600901 |
| Oculopalatocerebral Syndrome |
|
Microcephaly, Microphthalmia |
OMIM:257910 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614096 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Short long bone, Brachydactyly |
OMIM:615633 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda... |
OMIM:617866 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C... |
OMIM:615895 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
| Attrv122I Amyloidosis |
|
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... |
ORPHA:85451 |
| Oculo-Palato-Cerebral Syndrome |
|
Global brain atrophy, Microphthalmia, Frontal cortical atrophy, Microcephaly, Aplasia/Hypoplasia ... |
ORPHA:2714 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/... |
OMIM:605432 |
| Poland Syndrome |
|
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Hypoplasia of the radius, Microphthalmia, Radial devi... |
ORPHA:3103 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Intestinal malrotation, Gastrointestinal dysmotility, Ventricular septal defect, ... |
OMIM:617798 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo... |
OMIM:227650 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Triploidy |
|
Macrocephaly, Meningocele, Hydrocephalus, Finger syndactyly, Aplasia/Hypoplasia affecting the eye... |
ORPHA:3376 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hyperlordosis, Abnormality of the ovary, Abnormality of the uterus, Hypo... |
ORPHA:3130 |
| Stromme Syndrome |
|
Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Intestinal malrotation, Cleft palate, J... |
OMIM:243605 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... |
ORPHA:860 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Osteoporosis, Failure to thrive, Ankylosis, Recurrent... |
OMIM:239000 |
| Long-Olsen-Distelmaier Syndrome |
|
Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransferase concentr... |
OMIM:620609 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| Adams-Oliver Syndrome 1 |
|
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Microphthalmia, Encephalocele, P... |
OMIM:100300 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Abnormal atrioventricular valve morphology, Protruding tongue, Aortic valve stenosis, Mitral valv... |
ORPHA:324410 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... |
OMIM:620663 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Spinal dysraphism, Tethered cord, Sandal gap |
OMIM:612918 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy |
ORPHA:69077 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Microcephaly, Postaxial polydactyly, Overlapping toe, Tapered finger, Macular hypoplasia |
OMIM:613792 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph... |
OMIM:608940 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence |
ORPHA:85447 |
| Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... |
ORPHA:158061 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... |
ORPHA:2311 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Lymphopenia, Neu... |
OMIM:616395 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,... |
ORPHA:39041 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... |
OMIM:601847 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microcephaly, Abnormal palmar dermatoglyphics, Microphthalmia, Heart murmur |
ORPHA:2728 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:619064 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Cavum septum pellucidum, Sin... |
OMIM:616449 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:308700 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, High palate, Hypothyroidism, Hepatosplenomegaly, Microcytic anemia |
OMIM:619750 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Protein-losing enteropathy, Cryptorchidism, Hypothyroidism, Splenomegaly, Macroglossia |
OMIM:618440 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... |
OMIM:603554 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... |
OMIM:619451 |
| Laurence-Moon Syndrome |
|
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly |
ORPHA:2377 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Necrotizing enterocolitis, Hypertroph... |
OMIM:201475 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Sandal gap, Microcephaly, Holoprosencephaly, 3-4 finger cutaneous syndactyly, Cer... |
OMIM:612530 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Microphthalmia, Microcephaly, Upper limb asymmetry, Umbilical hernia |
ORPHA:2505 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased female li... |
ORPHA:432 |
| Warburg Micro Syndrome 3 |
|
Secondary microcephaly, Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5t... |
OMIM:614222 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy |
OMIM:605258 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia,... |
OMIM:270100 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... |
OMIM:300280 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve... |
OMIM:612651 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Microphthalmi... |
OMIM:616300 |
| Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... |
ORPHA:1332 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Syndactyly, Mitte... |
OMIM:609638 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Secondary Short Bowel Syndrome |
|
Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Cholestasis, Small intestinal dysmoti... |
ORPHA:95427 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Microcephaly, Postaxial polydactyly |
ORPHA:544254 |
| Refsum Disease |
|
Microphthalmia, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Abnormal epiphysis morp... |
ORPHA:773 |
| Monosomy 13Q14 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypopl... |
ORPHA:1587 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... |
OMIM:614091 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ... |
OMIM:606367 |
| Waardenburg Syndrome Type 1 |
|
Spina bifida, Meningocele |
ORPHA:894 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade... |
OMIM:619644 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal |
ORPHA:627 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Microphthalmia, Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tr... |
OMIM:227646 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Bifid scrotum, Pulmonic stenosis, Cleft palate, Ambiguous genitalia, Atrial septal d... |
OMIM:257300 |
| Cranioectodermal Dysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Finger syndactyly, ... |
ORPHA:568 |
| Tularemia |
|
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... |
ORPHA:3392 |
| Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Short clavicles, Single transverse palmar crease, Relative macrocepha... |
OMIM:615777 |
| Alg1-Cdg |
|
Decreased liver function, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, ... |
ORPHA:79327 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
| Phakomatosis Pigmentokeratotica |
|
Hemiatrophy, Arrhythmia, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Microcephaly, Broad thumb, Broad hallux, Short ... |
OMIM:600987 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog... |
ORPHA:1788 |
| Cinca Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... |
ORPHA:1451 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Macrocephaly, Hydrocephalus, Hypoplasia of the fovea, Umbilical hernia, Abnormal EKG... |
ORPHA:93400 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia, Macrocephaly, Joint contracture of the 5th finger, Single transverse palmar creas... |
OMIM:620098 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Abnormal cortical gyration, Encephalocele, Aplasia/Hypoplasia of the th... |
OMIM:219000 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Caudal appendage, Microphthalmia, Single transverse palmar crease, Camptodact... |
OMIM:272950 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis... |
ORPHA:79456 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... |
OMIM:619418 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly |
OMIM:618727 |
| Hoxha-Aliu Syndrome |
|
Abnormal metaphysis morphology, Contracture of the proximal interphalangeal joint of the 4th fing... |
OMIM:620662 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... |
OMIM:620376 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Broad... |
OMIM:212780 |
| Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
| Ritscher-Schinzel Syndrome 2 |
|
Clinodactyly of the 5th finger, Dandy-Walker malformation, Prominent fingertip pads, Relative mac... |
OMIM:300963 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Bilateral cleft palate, Microphthalmia, Retinal detachment |
ORPHA:1473 |
| Mpi-Cdg |
|
Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, ... |
ORPHA:79319 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Syringomyelia, Aplasia/Hypoplasia of the corpus callosum, Hip dysplasia |
ORPHA:531151 |
| Charge Syndrome |
|
Microphthalmia, Abnormal aortic valve morphology, Anophthalmia, Labial hypoplasia, Abnormality of... |
ORPHA:138 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Microphthalmia, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Hypo... |
OMIM:253800 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Dysphagia |
OMIM:313200 |
| Peutz-Jeghers Syndrome |
|
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Pr... |
OMIM:175200 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Intestinal polyposis, Stomach cancer, Vaginal neoplasm, Hypothyroidism, Acute lym... |
ORPHA:1052 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An... |
ORPHA:540 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta |
ORPHA:2475 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... |
OMIM:112250 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly, Short palm, Short foot, Small hand |
OMIM:241410 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Laryngeal dystonia |
ORPHA:36913 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Microcephaly, ... |
ORPHA:435938 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Microcephaly, Short palm, Arachnodactyly, Toe syndactyly |
ORPHA:73246 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:308750 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Single transverse palmar crease, Microcephaly, Brachydactyly, Clinodactyly |
OMIM:618950 |
| Serkal Syndrome |
|
Abnormality of the adrenal glands, Hypospadias, Ventricular septal defect, Pulmonic stenosis, Mal... |
ORPHA:139466 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Microphthalmia, Microcephaly, Vitreous hemorrhage, Retinal neovasculariza... |
ORPHA:891 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Adducted thumb, Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Over... |
OMIM:617822 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pancreas, Duodenal atresia |
ORPHA:1203 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Fanconi Anemia, Complementation Group C |
|
Microphthalmia, Anemia, Pancytopenia, Reticulocytopenia, Ventricular septal defect, Hypergonadotr... |
OMIM:227645 |
| Microform Holoprosencephaly |
|
Maternal diabetes, Hypoplasia of penis, Panhypopituitarism, Hypothyroidism, Cleft palate, Tetralo... |
ORPHA:280200 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, Thin bony cortex, Osteopenia |
ORPHA:85184 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Microphthalmia, Buphthalmos, Encephalocele, Hydrocephalus, Type II lissencephaly, Microcephaly, P... |
OMIM:613150 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi... |
OMIM:614162 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul... |
ORPHA:79124 |
| Esophageal Atresia |
|
Maternal diabetes, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract mo... |
ORPHA:1199 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Neural tube defect, Clinodactyly |
OMIM:119580 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Felty Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... |
ORPHA:47612 |
| Galloway-Mowat Syndrome 3 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Hypertension, Camptodactyly,... |
OMIM:617729 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia... |
OMIM:612783 |
| Cohen Syndrome |
|
Microphthalmia, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Clinodacty... |
ORPHA:193 |
| Micro Syndrome |
|
Optic atrophy, Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Hi... |
ORPHA:2510 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Tet... |
OMIM:192350 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger |
OMIM:167730 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, High palate, Cryptorchidism, Microcytic anemia |
ORPHA:98791 |
| Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... |
ORPHA:829 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal corpus callosum morphol... |
ORPHA:3224 |
| Acrofacial Dysostosis, Catania Type |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina bifida occulta,... |
ORPHA:1786 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Absenc... |
ORPHA:251510 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... |
OMIM:618849 |
| Mend Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, 2-3 ... |
ORPHA:401973 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa... |
ORPHA:809 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ... |
ORPHA:169090 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... |
ORPHA:277 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap |
OMIM:615761 |
| Aarskog-Scott Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse pa... |
ORPHA:915 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... |
ORPHA:3186 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Cleft p... |
ORPHA:247768 |
| Joubert Syndrome 2 |
|
Microphthalmia, Macrocephaly, Encephalocele, Hydrocephalus, Abnormal corpus callosum morphology, ... |
OMIM:608091 |
| Congenital Contractural Arachnodactyly |
|
High palate, Tracheoesophageal fistula, Intestinal malrotation, Mitral valve prolapse, Duodenal a... |
ORPHA:115 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Atrial septal defect, Microphthalmia, Anemia, Elevated circulating hepatic transaminase concentra... |
OMIM:620005 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Acrootoocular Syndrome |
|
Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Microcephaly, Prominent calcan... |
ORPHA:2980 |
| Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Hypertension, Microcephaly, Abnormal cerebral white matter morphology, Syndactyly,... |
ORPHA:2169 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n... |
ORPHA:79076 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Gastroesophageal reflux, Ventricular septal defect, Persistence of hemoglobin F, Atrial septal de... |
OMIM:619769 |
| Joubert Syndrome 21 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Encephalocele, Anophthalmia, Hypoplas... |
OMIM:615636 |
| Charge Syndrome |
|
Delayed puberty, Microphthalmia, Tracheoesophageal fistula, Pulmonic stenosis, Dysphagia, Dysplas... |
OMIM:214800 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... |
OMIM:180849 |
| Thyroid Lymphoma |
|
Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia, Goiter |
ORPHA:97285 |
| Tafro Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatospleno... |
ORPHA:457077 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Enterocolit... |
ORPHA:2686 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microcephaly, Microphthalmia, Clinodactyly of the 5th finger, Bilateral microphthalmos |
ORPHA:2399 |
| Seckel Syndrome 7 |
|
Lumbar scoliosis, Hypoplasia of the uterus |
OMIM:614851 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... |
OMIM:618278 |
| Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis |
OMIM:615663 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Macrocephaly, Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Mi... |
ORPHA:65286 |
| Fraser Syndrome |
|
Microphthalmia, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Anophthalmia, Verte... |
ORPHA:2052 |
| Klatskin Tumor |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis |
ORPHA:99978 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... |
OMIM:613179 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Testicular atrophy, Cholelithiasis |
OMIM:160900 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Pericardial effusion, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:614702 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Syndactyly, Umbilical hernia, C... |
ORPHA:369891 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron... |
ORPHA:98849 |
| Pagod Syndrome |
|
Encephalocele, Meningocele, Spina bifida, Microcephaly, Arrhythmia, Sudden cardiac death |
ORPHA:991 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Anemia |
OMIM:618838 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Microcephaly, Cerebellar hypoplasia, Clinodactyly, Syndactyly |
OMIM:618087 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Congenital Disorder Of Glycosylation, Type It |
|
Delayed puberty, Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminas... |
OMIM:614921 |
| Jacobsen Syndrome |
|
Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Ventricular sept... |
OMIM:147791 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Nodular goiter, Dysphag... |
ORPHA:142 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:289548 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Dandy-Walker malformation, Microcephaly, Long ... |
OMIM:156610 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... |
OMIM:308230 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas... |
ORPHA:2334 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:168558 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short... |
OMIM:164200 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing... |
OMIM:257850 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Gastroesophageal reflux, Patent for... |
OMIM:616975 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco... |
ORPHA:100079 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Optic atrophy, Microphthalmia, Elevated circulating hepatic transaminase concentration, Dysphagia... |
OMIM:612379 |
| Pycnodysostosis |
|
Generalized osteosclerosis, Increased bone mineral density, Osteolytic defects of the distal phal... |
ORPHA:763 |
| Nance-Horan Syndrome |
|
Broad finger, Short phalanx of finger, Microphthalmia |
OMIM:302350 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Microphthalmia, Meningocele, Hydrocephal... |
ORPHA:567 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the corpus callosum, Microphthalmia, Hydrocephalus, Dandy-Walker malformation, Cort... |
OMIM:613001 |
| ERI1-related disease |
|
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Tr... |
OMIM:608739 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Aganglionic megacolon, Anemia, Gastroesophageal reflux, Hypoplasia of penis, Male ... |
ORPHA:847 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Microphthalmia, Abnormal finger morphology, Hypertension, Cardiomyopathy, Apl... |
ORPHA:3472 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:42 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... |
ORPHA:3429 |
| Neurofibromatosis, Type I |
|
Aqueductal stenosis, Macrocephaly, Genu valgum, Hydrocephalus, Hypertension, Spina bifida, Tibial... |
OMIM:162200 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl... |
OMIM:258040 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Rhizomelia, Epiphyseal stippling, Dandy-Walker malformation, Stippled calcificati... |
OMIM:302960 |
| Sézary Syndrome |
|
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly |
ORPHA:3162 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Microphthalmia, Decreased pineal volume, Enterocolitis |
OMIM:301108 |
| Q Fever |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... |
ORPHA:781 |
| Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, Broa... |
ORPHA:93259 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Macrocephaly, Dural ectasia, Hydrocephalus, Prominent fingerti... |
ORPHA:363958 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:619203 |
| Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Cerebellar vermis hypoplasia, S... |
OMIM:311900 |
| 2Q37 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Finger ... |
ORPHA:1001 |
| Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy, Aniridia |
ORPHA:654 |
| 19P13.12 Microdeletion Syndrome |
|
Hypoplasia of the corpus callosum, Deep palmar crease, Aortic regurgitation, Sandal gap, Clinodac... |
ORPHA:254346 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel... |
ORPHA:913 |
| Whim Syndrome |
|
Neutropenia, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymph... |
ORPHA:51636 |
| Incontinentia Pigmenti |
|
Congestive heart failure, Microphthalmia, Spina bifida occulta, Finger syndactyly, Abnormal hand ... |
ORPHA:464 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha... |
ORPHA:90652 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... |
ORPHA:710 |
| Kaposi Sarcoma |
|
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of ... |
ORPHA:33276 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... |
ORPHA:169154 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Hypertrophic cardiomyopathy, Dysphagia, Gastrointestinal dysmotility, Cardiomegaly... |
ORPHA:391428 |
| Chediak-Higashi Syndrome |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... |
OMIM:214500 |
| Galloway-Mowat Syndrome 1 |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Microphthalmia, Dand... |
OMIM:251300 |
| Legionnaires Disease |
|
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Pericarditis, ... |
ORPHA:549 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:619183 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, M... |
OMIM:614701 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Hypoplasia of the corpus callosum, Proximal placement of thumb, Microcephaly, Syndactyly, Brachyd... |
OMIM:615789 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Microcephaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Absent t... |
ORPHA:1234 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... |
ORPHA:2256 |
| Ileal Neuroendocrine Tumor |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,... |
ORPHA:100078 |
| Mccune-Albright Syndrome |
|
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Abnormal endocrin... |
ORPHA:562 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowi... |
ORPHA:1005 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy |
OMIM:620514 |
| Thymic Neuroendocrine Tumor |
|
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo... |
ORPHA:97289 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Gastritis, Pancolitis, Abnormal intestine morphology, Esophagitis, Du... |
OMIM:619079 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly, Small hand |
OMIM:616489 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macrocephaly, Polymicrogyria, Unilateral microphthalmos, Microcephaly, Adducted thumb |
OMIM:618874 |
| Isolated Biliary Atresia |
|
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... |
ORPHA:30391 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
| H Syndrome |
|
Delayed puberty, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepato... |
ORPHA:168569 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Hypertrophic cardiomyopathy, Cleft palate, Cardiomegaly, Ventricular septal defect, ... |
OMIM:616897 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Biparietal narrowing, ... |
ORPHA:2754 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Holoprose... |
ORPHA:2166 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... |
OMIM:619350 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... |
ORPHA:3258 |
| Conotruncal Heart Malformations |
|
Postaxial polydactyly, Broad hallux |
OMIM:217095 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc... |
OMIM:610377 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Bilateral single transverse palmar creases, Microphthalmia, Microcephaly, Broad thumb, Camptodact... |
ORPHA:1236 |
| Mend Syndrome |
|
Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, Aortic valve stenosis,... |
OMIM:300960 |
| Oculocerebrocutaneous Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Polymicrogyria, Finger syndactyly, Congenital hip dislo... |
ORPHA:1647 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dysplasia, Panc... |
OMIM:617052 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... |
ORPHA:100080 |
| Lumbar Syndrome |
|
Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl... |
ORPHA:83628 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia |
OMIM:149000 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Small thenar eminence, Pulmo... |
OMIM:142900 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Oliver Syndrome |
|
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial hand polydactyly, Elbow flexi... |
ORPHA:2920 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia |
OMIM:613502 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Microphthalmia, Septo-optic dysplasia, Anal atresia, Vaginal atresia, Cryptorchidism |
ORPHA:3301 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... |
ORPHA:289176 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| 12Q14 Microdeletion Syndrome |
|
Failure to thrive, Tremor, Osteopoikilosis |
ORPHA:94063 |
| Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Jaundice, Cleft palate, Ele... |
OMIM:619573 |
| Polysyndactyly With Cardiac Malformation |
|
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly |
OMIM:263630 |
| Frontofacionasal Dysplasia |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Hypoplasia of olfactory tract |
ORPHA:1791 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia, Bowing of the long bones, Pulmonary arterial hypertension, ... |
OMIM:614437 |
| Neuroendocrine Tumor Of Stomach |
|
Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficien... |
ORPHA:100075 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Distal Deletion 12Q |
|
Annular pancreas, Maturity-onset diabetes of the young, High, narrow palate, Esophageal atresia, ... |
ORPHA:96149 |
| Werner Syndrome |
|
Joint stiffness, Slender build, Osteoporosis, Increased bone mineral density |
ORPHA:902 |
| Common Variable Immunodeficiency |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Gastrointestinal stroma... |
ORPHA:1572 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen... |
ORPHA:284160 |
| Joubert Syndrome 39 |
|
Cerebellar vermis hypoplasia, Occipital encephalocele, Postaxial polydactyly, Joint contracture o... |
OMIM:619562 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase c... |
OMIM:615688 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Microcephaly, Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum |
ORPHA:66629 |
| Dysosteosclerosis |
|
Osteopenia, Clavicular sclerosis, Sclerosis of hand bone, Sclerosis of skull base, Sclerotic scap... |
OMIM:224300 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Rhizomelic leg shortening, Early ossification of capital femoral epiphys... |
ORPHA:397715 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:567983 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcephaly, Microphthalmia, Simplified gyral pattern |
OMIM:152950 |
| Sandhoff Disease |
|
Hepatomegaly, Impotence, Hepatosplenomegaly, Cardiomegaly, Macroglossia |
OMIM:268800 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Gastroesophageal reflux |
ORPHA:3137 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Villous atrophy, Anemia, Lymphadenopathy, Anoperineal fistula, Gastritis, B lymph... |
OMIM:619381 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Anemia, Esophageal atresia, Aplasia of the uterus, Tracheoesophageal fistula, Ana... |
OMIM:614083 |
| Kikuchi-Fujimoto Disease |
|
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ... |
ORPHA:50918 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation, Aortic valve stenosis, Pulmonic stenosis, Syndactyly |
OMIM:220210 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... |
OMIM:115197 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... |
ORPHA:96334 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hypoplasia of the corpus callosum, Preaxial polydactyly, Anencephaly, Cerebellar vermis hypoplasi... |
OMIM:616546 |
| Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... |
ORPHA:263665 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Gastroesophageal reflux, Retinal detachment, Ventricular septal defect, Aortic valve... |
ORPHA:464311 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, High palate, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Ventricular... |
OMIM:617022 |
| Boutonneuse Fever |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko... |
ORPHA:83313 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Brachydactyly, Micromelia |
ORPHA:2145 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Microphthalmia, Buphthalmos, Hydrocep... |
OMIM:236670 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula... |
OMIM:603553 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Agenesis o... |
OMIM:300952 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly |
ORPHA:36412 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal cortical gyration, Hydrocephalus, M... |
OMIM:614576 |
| Carcinoid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, S... |
ORPHA:100093 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
| Waardenburg Syndrome, Type 1 |
|
Hypoplastic iris stroma, Myelomeningocele, Spina bifida |
OMIM:193500 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Peritonitis |
ORPHA:343 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Tethered cord, Dermal sinus tract, Myelome... |
OMIM:600145 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... |
OMIM:300048 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Rectal prolapse, Protei... |
OMIM:235510 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Osteoporosis, Hypoplasi... |
ORPHA:785 |
| Fanconi Anemia, Complementation Group N |
|
Hypoplasia of the radius, Microphthalmia, Microcephaly, Absent thumb, Short thumb |
OMIM:610832 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... |
OMIM:618986 |
| Filippi Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ... |
ORPHA:3255 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Proximal placement of thumb, Cardiomyopathy, Microcephaly, Short palm, Syndactyly, Agenesis of co... |
OMIM:217980 |
| Orofaciodigital Syndrome I |
|
Cerebral atrophy, Polydactyly, Abnormal cortical gyration, Radial deviation of finger, Hydrocepha... |
OMIM:311200 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly, A... |
OMIM:614230 |
| Atelis Syndrome 2 |
|
Microphthalmia, Single transverse palmar crease, Supravalvar pulmonary stenosis, Microcephaly, Pu... |
OMIM:620185 |
| Miller-Dieker Lissencephaly Syndrome |
|
Cryptorchidism, Abnormal heart morphology, Cleft palate, Duodenal atresia |
OMIM:247200 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Increased B cell count, Increased T cell ... |
ORPHA:98813 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... |
ORPHA:37042 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Dysphagia, Cardiomegaly... |
OMIM:608013 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abn... |
ORPHA:731 |
| Scrub Typhus |
|
Myocarditis, Lymphadenopathy, Splenomegaly |
ORPHA:83317 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Hypospadias, Gastroesophageal reflux, Anterior pituitary hypoplasia, Ventricul... |
ORPHA:464306 |
| Kbg Syndrome |
|
Microcephaly, Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly |
ORPHA:2332 |
| Lymphatic Filariasis |
|
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s... |
ORPHA:2035 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Adrenal... |
OMIM:249000 |
| Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod... |
ORPHA:158687 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic nerve hypoplasia, Abnormal periventricular white matter morphology, Microcephaly, Olivopont... |
ORPHA:468631 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti... |
ORPHA:100082 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... |
OMIM:233710 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... |
ORPHA:555874 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Macroglossia, Ventricular septal defect, High palate, Precocious puberty, Cardiomeg... |
ORPHA:96191 |
| Pancreatic Colipase Deficiency |
|
Steatorrhea, Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Fat malabso... |
ORPHA:309108 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Biparietal narrowing... |
ORPHA:1323 |
| Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Microphthalmia, Retinal neovascularization |
OMIM:193220 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... |
OMIM:267700 |
| Fetal Alcohol Syndrome |
|
Microcephaly, Microphthalmia, Biparietal narrowing |
ORPHA:1915 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypothyroi... |
OMIM:617713 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Microcephaly, Abnormal distal phalanx morpholo... |
ORPHA:783 |
| Acrocardiofacial Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Split hand, Cerebral cortical atrophy, Split f... |
ORPHA:2008 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Submucous clef... |
OMIM:619227 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly... |
ORPHA:3261 |
| Spondyloocular Syndrome |
|
Duodenal ulcer, Retinal detachment, Dysplastic aortic valve, Unilateral cryptorchidism, Mitral va... |
OMIM:605822 |
| Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Microphthalmia, Atrial flutter, Wolff-Parkinson-White syndrome, Hydroce... |
ORPHA:137675 |
| Apert Syndrome |
|
Limited elbow movement, Megalencephaly, Delayed epiphyseal ossification, Hydrocephalus, Finger sy... |
OMIM:101200 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... |
OMIM:255120 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... |
ORPHA:3092 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto... |
ORPHA:139402 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Lymphadenopathy, Leukocytosis, Pericarditis, Orchitis, Splenomegaly, Peri... |
ORPHA:32960 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Gastritis, Villous atrophy,... |
ORPHA:84064 |
| Liver Disease, Severe Congenital |
|
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... |
OMIM:619991 |
| Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad... |
OMIM:301040 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb... |
OMIM:184705 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Osteolytic defects of the phalanges of the hand |
OMIM:600705 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... |
OMIM:233690 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T... |
OMIM:617591 |
| Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect |
OMIM:601005 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Camptodactyly |
OMIM:616006 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Joint contracture, Exaggerated startle response |
OMIM:616881 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... |
ORPHA:83461 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Atrial septal defect, Vent... |
OMIM:614114 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Abetalipoproteinemia |
|
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Steator... |
ORPHA:14 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Leuko... |
ORPHA:2070 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure, Pulmonary carcinoid tumor, ... |
ORPHA:97287 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Epiphyseal stippling, Apl... |
OMIM:308050 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Bohring-Opitz Syndrome |
|
Hypoplasia of the corpus callosum, Deep palmar crease, Dislocated radial head, Dandy-Walker malfo... |
OMIM:605039 |
| Brucellosis |
|
Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo... |
ORPHA:1304 |
| Trigonocephaly 1 |
|
Meckel diverticulum, High, narrow palate, Long penis |
OMIM:190440 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Microphthalmia, Anal atresia, Uterus didelphys, Cleft palate, Tetralogy of Fallot, Absent gallbla... |
OMIM:617925 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... |
ORPHA:92050 |
| Feingold Syndrome Type 1 |
|
Gastrointestinal atresia, Tricuspid atresia, Esophageal atresia, Tricuspid stenosis, Anal atresia... |
ORPHA:391641 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Intestinal malrotation, Mitral s... |
ORPHA:2847 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Foot polydactyly, Short palm, Agenesis of corpus callosum |
ORPHA:268249 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Hypoplasia of the corpus callosum, Rocker bottom foot, Abnormal cortical gyration, Progressive mi... |
OMIM:617527 |
| Estrogen Resistance |
|
Osteopenia, Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
| Myhre Syndrome |
|
Short finger, Microphthalmia, Radial deviation of finger, Macrocephaly, Hypoplastic iliac wing, 2... |
OMIM:139210 |
| Refsum Disease, Classic |
|
Cardiomegaly, Retinal degeneration, Cardiomyopathy |
OMIM:266500 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcephaly, Microphthalmia, Cerebral cortical atrophy, Partial agenesis of the corpus callosum |
OMIM:234050 |
| Kenny-Caffey Syndrome, Type 2 |
|
Microphthalmia, Macrocephaly, Abnormality of the medullary cavity of the long bones, Basal gangli... |
OMIM:127000 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Syndactyly, Brachydactyly, Umbilical hernia |
OMIM:616028 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in female... |
OMIM:269700 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Agene... |
ORPHA:306542 |
| Monosomy 9Q22.3 |
|
Polydactyly, Microphthalmia, Macrocephaly, Palmar pits, Hydrocephalus, Calcification of falx cere... |
ORPHA:77301 |
| Familial Adenomatous Polyposis 4 |
|
Gastric adenocarcinoma, Ovarian cyst, Thyroid adenoma, Adenomatous colonic polyposis, Uterine lei... |
OMIM:617100 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Right atrial enlargement, Left ventri... |
ORPHA:57777 |
| Popliteal Pterygium Syndrome |
|
Spina bifida occulta, Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hyp... |
OMIM:119500 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transamin... |
OMIM:260400 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microcephaly, Corneal neovascularization, Microphthalmia, Telangiectasia |
OMIM:278730 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle |
OMIM:239850 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... |
OMIM:305400 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... |
OMIM:618048 |
| Premature Aging Syndrome, Penttinen Type |
|
Microphthalmia, Macrocephaly, Slender long bone, Tibial bowing, Osteolytic defects of the distal ... |
OMIM:601812 |
| Silver-Russell Syndrome 1 |
|
Short distal phalanx of the 5th finger, Short middle phalanx of the 5th finger, Clinodactyly of t... |
OMIM:180860 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... |
ORPHA:101096 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis |
OMIM:618476 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short 4th metacarpal, Spina bifida occulta, Small hand |
ORPHA:1787 |
| Congenital Short Bowel Syndrome |
|
Steatorrhea, Abnormal peristalsis, Congenital shortened small intestine, Intestinal malrotation, ... |
OMIM:615237 |
| Fucosidosis |
|
Hypothyroidism, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Thin corpus callosum, Tethered cord, Tapered finger, Spina bifida, Partial agenesis of the corpus... |
OMIM:619480 |
| Cranioectodermal Dysplasia 3 |
|
Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe syndacty... |
OMIM:614099 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Cardiomegaly, Gastroesophageal reflux, Abnormal heart valve morpholo... |
ORPHA:363705 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Hypochromi... |
ORPHA:514 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Short distal phalanx of finger, Toe syndactyly, Aplasia/Hypoplasia of the corp... |
ORPHA:1512 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microcephaly, Microphthalmia, Anophthalmia |
ORPHA:2526 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Cantú Syndrome |
|
Abnormal metaphysis morphology, Macrocephaly, Short hallux, Finger syndactyly, Hypertrophic cardi... |
ORPHA:1517 |
| Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus, Anal atresia, Intestinal malrotation, Ambiguous genital... |
OMIM:617666 |
| Okamoto Syndrome |
|
Anal stenosis, Abnormal left ventricle morphology, Abnormally large globe, Gastroesophageal reflu... |
ORPHA:2729 |
| Tetraamelia Syndrome 1 |
|
Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Anal atresia, Asplen... |
OMIM:273395 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Exaggerated startle response |
OMIM:609541 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Retinal hemorrhage... |
ORPHA:33226 |
| Degcags Syndrome |
|
Microphthalmia, Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenita... |
OMIM:619488 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Dysplastic corpus callosum, Diaphyseal undertubulation, Spina bifida occulta, Flared metaphysis, ... |
OMIM:151050 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Macrocephaly, Long fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Overlapping fingers |
OMIM:618316 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Hypoplastic colon, Hepatic fibr... |
OMIM:200995 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Gonadoblastoma, Macrogloss... |
OMIM:130650 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Microphthalmia, Inferior cerebellar vermis hypoplasia |
OMIM:618571 |
| Papa Syndrome |
|
Crohn's disease, Type I diabetes mellitus, Lymphadenopathy |
ORPHA:69126 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count |
OMIM:259720 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Lymphadenopathy, Leukocytosis... |
ORPHA:342 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... |
ORPHA:3427 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulat... |
OMIM:608836 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Shoulder flexion contracture, Cachexia, Increased bone mineral densit... |
ORPHA:800 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,... |
OMIM:619762 |
| 19Q13.11 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Microcephaly, Toe ... |
ORPHA:217346 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocyto... |
ORPHA:652 |
| Adnp Syndrome |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Polydactyly, Focal white matter lesions, San... |
ORPHA:404448 |
| Fg Syndrome Type 1 |
|
Abnormal thumb morphology, Macrocephaly, Clinodactyly of the 2nd finger, Hydrocephalus, Optic ner... |
ORPHA:93932 |
| Holoprosencephaly 13, X-Linked |
|
Gastroesophageal reflux, Duodenal atresia, Optic nerve hypoplasia, Patent foramen ovale, Septo-op... |
OMIM:301043 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Gastroesophageal reflux, Hilar lymph node enlargement,... |
OMIM:620233 |
| Ring Chromosome 12 Syndrome |
|
Abnormal 5th finger morphology, Microcephaly, Symphalangism of the thumb, Syndactyly, Clinodactyly |
ORPHA:1439 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Short hallux, Finger syndactyly, Broad thumb, Hallux varus, Broad hallux pha... |
ORPHA:93260 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology |
ORPHA:103907 |
| Proboscis Lateralis |
|
Microphthalmia, Macrocephaly, Anophthalmia, Optic nerve hypoplasia, Abnormal corpus callosum morp... |
ORPHA:141099 |
| 3C Syndrome |
|
Macrocephaly, Abnormal hip bone morphology, Hydrocephalus, Dandy-Walker malformation, Finger synd... |
ORPHA:7 |
| Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Lymphadenopathy, Lymphopenia, Pericardial effusion, Th... |
ORPHA:93552 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... |
ORPHA:100085 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Proximal placement of thumb, Anophthalmia, Branch... |
OMIM:113620 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo... |
OMIM:154230 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Encephalocele, Finger syndactyly, Polymicrogyria, Broad thumb, Broad ... |
ORPHA:2211 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Multiple joint contractures, Exaggerated startle response |
ORPHA:320406 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Aplasia of the uterus, Uterus didelphys, Parathyroid hypoplasia, Abnormal hea... |
ORPHA:2237 |
| Chromosome 13Q14 Deletion Syndrome |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, Single transve... |
OMIM:613884 |
| Oculodentodigital Dysplasia |
|
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:2710 |
| Thymoma |
|
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Pure red cell aplasia, Neoplas... |
ORPHA:99867 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia, Retinal neovascularization |
OMIM:305390 |
| Cri-Du-Chat Syndrome |
|
Short metatarsal, Single transverse palmar crease, High axial triradius, Short metacarpal, Microc... |
OMIM:123450 |
| Farber Disease |
|
Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Macular degener... |
ORPHA:333 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Hypertension, Femoral bowing, Bifid first metacarpal, Short metacarpal, Micr... |
OMIM:210710 |
| Acute Promyelocytic Leukemia |
|
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Metrorrhagia, ... |
ORPHA:520 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia |
OMIM:610256 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Intention tremor, Craniosynostosis, Multiple joint co... |
ORPHA:33364 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Cerebellar vermi... |
ORPHA:314679 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Adrenocortical... |
ORPHA:139411 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Microphthalmia, High palate, Female infertility, Amenorrhea, Inc... |
OMIM:110100 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Hepatic amyloidosis, Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy |
OMIM:142680 |
| Frontonasal Dysplasia 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Encephalocele, Cerebellar vermis hypoplasia, M... |
OMIM:613451 |
| Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| 8Q22.1 Microdeletion Syndrome |
|
Microcephaly, Camptodactyly of finger, Finger syndactyly, Sandal gap |
ORPHA:178303 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... |
OMIM:268310 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Coronary Arterial Fistula |
|
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... |
ORPHA:2041 |
| Lymphangioleiomyomatosis |
|
Optic atrophy, Gastrointestinal hemorrhage, Lymphadenopathy, Chylopericardium, Abnormality of the... |
ORPHA:538 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Acromelic Frontonasal Dysostosis |
|
Hypoplasia of the corpus callosum, Patellar hypoplasia, Encephalocele, Cavum septum pellucidum, T... |
OMIM:603671 |
| Pseudohypoparathyroidism Type 1A |
|
Reduced bone mineral density, Increased bone mineral density, Ectopic ossification, Hyperostosis ... |
ORPHA:79443 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Cerebral calcification, Dandy-Walker malformation, Porencephalic cyst, Biparietal... |
ORPHA:2612 |
| Graft Versus Host Disease |
|
Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,... |
ORPHA:39812 |
| Hydrolethalus Syndrome 1 |
|
Microphthalmia, Abnormal cortical gyration, Anencephaly, Talipes equinovarus, Upper limb undergro... |
OMIM:236680 |
| Congenital Syphilis |
|
Optic atrophy, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, High palate, Prolonged neonata... |
ORPHA:499009 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Macroglossia, Hepatomegaly, Cryptorchidism |
OMIM:618143 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Microcephaly, Aplasia of the distal... |
ORPHA:364577 |
| Opitz-Kaveggia Syndrome |
|
Postnatal macrocephaly, Radial deviation of finger, Hydrocephalus, Single transverse palmar creas... |
OMIM:305450 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hydrocephalus, Optic nerve hyp... |
ORPHA:457284 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Poland Syndrome |
|
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Spina bifi... |
ORPHA:2911 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Optic atrophy, Cardiomyopathy, Cardiomegaly, Increased hepatic glycogen content |
OMIM:619259 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, High palate,... |
OMIM:620371 |
| Orofaciodigital Syndrome V |
|
Sandal gap, Postaxial hand polydactyly, Microcephaly, Postaxial polydactyly, Agenesis of corpus c... |
OMIM:174300 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Tethered cord, Tricuspid regurgitation, Microcephaly, Postaxial pol... |
OMIM:618460 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Microphthalmia, Gastroesophageal reflux, Patent foramen ovale, Hypoplastic nipples, Thyroid hypop... |
OMIM:620186 |
| Middle Ear Neuroendocrine Tumor |
|
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm |
ORPHA:100084 |
| Holoprosencephaly 7 |
|
Semilobar holoprosencephaly, Microphthalmia, Macrocephaly, Bilateral microphthalmos, Alobar holop... |
OMIM:610828 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Talipe... |
ORPHA:35173 |
| Diets-Jongmans Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypospadias, Duodenal atresia |
OMIM:618846 |
| Pierson Syndrome |
|
Microphthalmia, Hypoplasia of the ciliary body, Progressive microcephaly, Hypertension, Retinal h... |
OMIM:609049 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Single transverse palmar crease, Micromelia, Broad hallux, Syndactyly, Brachydactyly |
OMIM:614800 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping toe, Clinoda... |
OMIM:300895 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Radial deviation of finger, Anophthalmia, Short clavicles, Prominent fingertip pa... |
OMIM:309800 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Syndactyly |
OMIM:616430 |
| Lead Poisoning |
|
Abnormal T cell morphology, Delayed puberty, Anemia, Decreased male libido, Infertility, Oligozoo... |
ORPHA:330015 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... |
ORPHA:2658 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
| Chédiak-Higashi Syndrome |
|
Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ... |
ORPHA:167 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... |
ORPHA:220460 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger |
ORPHA:246 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... |
ORPHA:83471 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
OMIM:202010 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microcephaly, Microphthalmia, Basal ganglia calcification |
OMIM:610651 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Prolonged QT interval, Optic nerve hypoplasia, Pulmonary arterial h... |
OMIM:620029 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Elbow flexion contracture, Exaggerated startle response, Hip contracture, Flexion contracture, Jo... |
OMIM:617301 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Intestinal p... |
OMIM:147060 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Weight loss, Osteolysis |
ORPHA:35687 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Obesity, Laryngeal dystonia, Ectopic ossification |
ORPHA:79444 |
| Congenital Tracheal Stenosis |
|
Duodenal atresia, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophag... |
ORPHA:141127 |
| Aicardi Syndrome |
|
Optic atrophy, Delayed puberty, Microphthalmia, Intestinal polyposis, Gastroesophageal reflux, Re... |
ORPHA:50 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Macrocephaly, Short 4th metacarpal, Hip subl... |
ORPHA:221120 |
| Zygomycosis |
|
Hematemesis, Gastrointestinal hemorrhage, Pericarditis, Hematochezia, Neutropenia, Myocarditis, S... |
ORPHA:73263 |
| Hyper-Igd Syndrome |
|
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Opt... |
OMIM:260920 |
| Grange Syndrome |
|
Renovascular hypertension, Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Hallermann-Streiff Syndrome |
|
Congestive heart failure, Microphthalmia, Clinodactyly of the 5th finger, Microcephaly, Cerebella... |
ORPHA:2108 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect, High palate |
OMIM:618798 |
| X-Linked Hypophosphatemia |
|
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... |
ORPHA:89936 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Hypospadias, Rectovaginal fistula, Gastroesophageal reflux, Bifid scrotum, Ventric... |
OMIM:107480 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Abnormal mi... |
ORPHA:581 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ... |
ORPHA:449432 |
| Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... |
OMIM:306400 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Short distal phalanx of finger |
OMIM:201180 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypoplasia of the corpus callosum, Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndac... |
OMIM:616734 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Joint contracture, Exaggerated startle response |
OMIM:617864 |
| Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Treacher-Collins Syndrome |
|
Abnormality of the adrenal glands, Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thy... |
ORPHA:861 |
| Systemic Sclerosis |
|
Myocarditis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal... |
ORPHA:90291 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the stomach, Neoplasm of the pancreas, Pituitary growth hor... |
ORPHA:1359 |
| Coccidioidomycosis |
|
Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ... |
ORPHA:228123 |
| Momo Syndrome |
|
Bilateral microphthalmos, Macrocephaly, Femoral bowing, Short sternum, Large hands, Congenital ps... |
ORPHA:2563 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Abnormal heart valve morphology, High palate, Abnormal heart morphology, Abno... |
ORPHA:2953 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... |
ORPHA:1112 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... |
ORPHA:439 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Small hand, Dandy-Walker malformat... |
OMIM:300968 |
| Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin... |
ORPHA:3260 |
| Mungan Syndrome |
|
Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Barrett esophagus, Pulmo... |
OMIM:611376 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Hepatomegaly, Splenomegaly, Macroglossia |
OMIM:232300 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Macroglossia, Viscerom... |
ORPHA:116 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Polymicrogyria, Syndactyly, Umbilical hernia |
OMIM:614520 |
| Persistent Hyperplastic Primary Vitreous |
|
Microphthalmia, Buphthalmos, Remnants of the hyaloid vascular system, Tractional retinal detachme... |
ORPHA:91495 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| X Small Rings |
|
Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Mitral stenosis, Lowe... |
ORPHA:96201 |
| Pancreatoblastoma |
|
Jaundice, Abnormal lymph node morphology, Pancreatic calcification |
ORPHA:677 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, High palate, Abnormal thymus morphology |
ORPHA:2463 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Kinsship Syndrome |
|
Polydactyly, Fibular hypoplasia, Dislocated radial head, Dandy-Walker malformation, Single transv... |
OMIM:619297 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, ... |
ORPHA:228308 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Anemia, Glossitis, Hamartomatous polyposis, Hematochezia, Gastrointes... |
OMIM:175500 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Tremor, Abnormal bone structure, Joint stiffness, Ost... |
ORPHA:355 |
| Raine Syndrome |
|
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita |
OMIM:259775 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Anal stenosis, Bifid penis, Abnormality of the gastrointes... |
ORPHA:322 |
| Tangier Disease |
|
Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil... |
ORPHA:31150 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hydrocephalus, Finger syndactyly, Hypertension, Micromelia, Broa... |
ORPHA:87 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Br... |
ORPHA:503 |
| Hamamy Syndrome |
|
Clinodactyly of the 5th finger, Short 2nd finger, Long fingers, Down-sloping shoulders, Syndactyl... |
OMIM:611174 |
| Tarp Syndrome |
|
Optic atrophy, Glossoptosis, Tongue nodules, Cryptorchidism, Cleft palate, Tetralogy of Fallot, A... |
ORPHA:2886 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... |
ORPHA:99228 |
| Monosomy X |
|
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... |
ORPHA:99226 |
| Turner Syndrome |
|
Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati... |
ORPHA:881 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia, Anal stenosis, Hypoplastic labia majora, Hypoplastic male external genitalia, Pat... |
OMIM:263650 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Inappropriate antidiuretic hormone secretion, Leukopenia, Splenomegaly, Cholecystiti... |
ORPHA:99827 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Limb joint contracture, Exaggerated startle response |
OMIM:620327 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Desmosterolosis |
|
Generalized osteosclerosis, Failure to thrive, Arthrogryposis multiplex congenita, Joint contract... |
OMIM:602398 |
| Phace Association |
|
Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Congenital hypothyroidism, Ventricular sep... |
OMIM:606519 |
| Phocomelia, Schinzel Type |
|
Aplasia/Hypoplasia of the sacrum, Hypoplasia of penis, Aplasia of the uterus, Short neck, Cryptor... |
ORPHA:2879 |
| Aicardi-Goutieres Syndrome 7 |
|
Hematemesis, Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Hypothyr... |
OMIM:615846 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Neurocardiofaciodigital Syndrome |
|
Hypoplasia of the corpus callosum, Polydactyly, Cavum septum pellucidum, Cerebellar vermis hypopl... |
OMIM:619869 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Accessory spleen, Anal atresia, Clitoral hypoplasia, Pyloric stenosis, Elevat... |
OMIM:618419 |
| Constricting Bands, Congenital |
|
Talipes equinovarus, Hand polydactyly, Syndactyly, Encephalocele |
OMIM:217100 |
| Cockayne Syndrome B |
|
Cerebral atrophy, Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Hypoplastic ... |
OMIM:133540 |
| Sarcoidosis |
|
Decreased liver function, Increased T cell count, Leukopenia, Abnormal reproductive system morpho... |
ORPHA:797 |
| Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Macroglossia |
OMIM:230000 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos... |
ORPHA:293173 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Delayed puberty, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Left ventric... |
OMIM:300967 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin... |
OMIM:256040 |
| Ogden Syndrome |
|
Left atrial enlargement, Enlarged kidney, Dysphagia, Cardiomegaly, Bicuspid aortic valve, Narrow ... |
OMIM:300855 |
| Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Anal stenosis, Lymphadenopathy, Neoplasm of the rectum, Anal canal adenocarcinom... |
ORPHA:424016 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Complete Atrioventricular Septal Defect |
|
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... |
ORPHA:1329 |
| Malakoplakia |
|
Prostate neoplasm, Neoplasm of the rectum, Orchitis, Abnormality of the menstrual cycle, Neoplasm... |
ORPHA:556 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intesti... |
OMIM:617718 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Postaxial polydactyly |
OMIM:219730 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... |
ORPHA:308552 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Cerebral atrophy, Macrocephaly, Radial deviation of finger, Sandal gap, Tethered cord, Supravalva... |
OMIM:618164 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia, Hypospadias, High palate, Cleft palate, Primary amenorrhea, Cryptorchidism, Micro... |
OMIM:603457 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos |
OMIM:221900 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation... |
ORPHA:2929 |
| Legius Syndrome |
|
Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Pulmonic stenosis, Paroxysmal atrial t... |
ORPHA:137605 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Protein-losing enteropathy, Hypot... |
OMIM:618183 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Gastroesophageal reflux, Accessory spleen, Aplasia of the uterus, Ventricular septal... |
OMIM:194190 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal carcinoma, Adrenocortical adenoma, Adenomatous colonic... |
ORPHA:79665 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short finger, Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5... |
OMIM:608670 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Neoplasm of the rectum, Colon cancer, Ovarian cyst, Adenomatous coloni... |
ORPHA:454840 |
| Microphthalmia/Coloboma 12 |
|
Optic disc coloboma, Microphthalmia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:120200 |
| Dubowitz Syndrome |
|
Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Hypoplasia of th... |
OMIM:223370 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... |
ORPHA:958 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis... |
ORPHA:329971 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly a... |
ORPHA:672 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ... |
ORPHA:100086 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy, Impotence |
OMIM:105210 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Ulna... |
OMIM:148050 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Cleft palate, Mitral valve p... |
OMIM:245600 |
| Trichothiodystrophy 1, Photosensitive |
|
Microcephaly, Microphthalmia, Telangiectasia |
OMIM:601675 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly |
ORPHA:1252 |
| Acrocallosal Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tape... |
OMIM:200990 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
| Scedosporiosis |
|
Pericarditis, Abnormal jejunum morphology, Diabetes mellitus, Endocarditis |
ORPHA:449280 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Cardiomyopathy, Back pain, Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... |
ORPHA:1457 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Bicornuate uterus, Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus |
OMIM:137920 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br... |
ORPHA:989 |
| Cockayne Syndrome |
|
Optic atrophy, Delayed puberty, Microphthalmia, Hepatomegaly, Elevated circulating hepatic transa... |
ORPHA:191 |
| Cockayne Syndrome Type 3 |
|
Microphthalmia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesop... |
ORPHA:90324 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Macrocephaly, Tricuspid regurgitation, Camptodactyly, Broad thumb, Short phalanx of finger, Mesom... |
OMIM:616894 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Microphthalmia, Congenital hip dislocation, Short palm, Short thumb, Forearm reduction defects, T... |
OMIM:268400 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl... |
OMIM:615934 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Testicular atrophy, Dysphagia |
OMIM:300322 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus adductus, Arachnodactyly, Camptod... |
ORPHA:2215 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Hydrocephalus, Congenital hip dislocation, Syndactyly, Umbilical hernia |
OMIM:104350 |
| Townes-Brocks Syndrome |
|
Delayed puberty, Microphthalmia, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal... |
ORPHA:857 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly |
ORPHA:2890 |
| Monosomy 9P |
|
Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, Postaxia... |
ORPHA:261112 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Secondary microcephaly, Thin corpus callosum, Cavum septum pellucidum, Cerebellar vermis hypoplas... |
OMIM:620654 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 toe ... |
OMIM:620025 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Igg4-Related Kidney Disease |
|
Decreased liver function, Enlarged kidney, Prostatitis, Pancreatitis, Lymphadenopathy, Sclerosing... |
ORPHA:449395 |
| Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Microcephaly, Lobar holopros... |
OMIM:615465 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer, Hypergastrinemia |
OMIM:126840 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Anencephaly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Preaxi... |
ORPHA:887 |
| Selective Igm Deficiency |
|
Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Stomach cancer,... |
ORPHA:331235 |
| Familial Adenomatous Polyposis |
|
Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duodenal adenocarcinom... |
ORPHA:733 |
| Aicardi-Goutières Syndrome |
|
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all... |
ORPHA:51 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,... |
OMIM:157640 |
| Incontinentia Pigmenti |
|
Optic atrophy, Breast hypoplasia, Microphthalmia, Breast aplasia, Retinal detachment, Hypoplastic... |
OMIM:308300 |
| Witteveen-Kolk Syndrome |
|
Microphthalmia, Radial deviation of finger, Proximal placement of thumb, Microcephaly, Arachnodac... |
OMIM:613406 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t... |
ORPHA:818 |
| Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Dandy-Walker malformation, ... |
ORPHA:2750 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,... |
ORPHA:3384 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Lymphadenopathy, Macroglossia |
ORPHA:2483 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Cerebral atrophy, Polydactyly, Abnormal basal ganglia MRI signal intensity, Hypertrophic cardiomy... |
ORPHA:17 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Traboulsi Syndrome |
|
Short finger, Microphthalmia, Cubitus valgus, Arachnodactyly, Broad hallux |
OMIM:601552 |
| Bohring-Opitz Syndrome |
|
Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cleft palate, Cardiomegaly, Abn... |
ORPHA:97297 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph... |
OMIM:600802 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Esophageal ulceration, Iron deficiency anemia, Gastric ulcer |
OMIM:618372 |
| Atypical Werner Syndrome |
|
Reduced bone mineral density, Osteolytic defects of the phalanges of the hand, Increased bone min... |
ORPHA:79474 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the stomach, Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lympho... |
ORPHA:99889 |
| Floating-Harbor Syndrome |
|
Kyphoscoliosis, Ivory epiphyses of the distal phalanges of the hand, Mesocardia, Hypospadias, Gla... |
OMIM:136140 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... |
OMIM:181000 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Short 5th finger, Long t... |
ORPHA:508488 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the vagina, Scoliosis, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Crypto... |
OMIM:614527 |
| Igg4-Related Ophthalmic Disease |
|
Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of... |
ORPHA:449563 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Tibial bowing, Microcephaly, Metaphyseal widening, Phthisis bulbi |
OMIM:259770 |
| Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer |
ORPHA:79140 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti... |
ORPHA:289390 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Postnatal macrocephaly, Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening o... |
ORPHA:93325 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Aganglionic megacolon, Cervical neoplasm, Abnorma... |
ORPHA:653 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... |
OMIM:269500 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Renpenning Syndrome 1 |
|
Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, High palate, Anal atresia, Decreas... |
OMIM:309500 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Pericarditis, Orchitis, Splenomegaly,... |
ORPHA:117 |
| Norrie Disease |
|
Buphthalmos, Microphthalmia, Hypoplasia of the iris |
OMIM:310600 |
| Au-Kline Syndrome |
|
Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Hypertension, Lipomyelomeningo... |
OMIM:616580 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:29073 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Optic nerve hypoplasia, Hypotension, Septo-optic dysplasia, Abnormal digit morpholog... |
ORPHA:95494 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:1507 |
| Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia |
OMIM:612109 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Camptodactyly, Camptodactyly of toe, Arachnodactyly, ... |
OMIM:265000 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, High palate, Cryptorchi... |
OMIM:135900 |
| Danon Disease |
|
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... |
OMIM:300257 |
| Alkaptonuria |
|
Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Mitral valve calcificatio... |
ORPHA:56 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Microcephaly, Facial telangiectasia in butterfly midface distribu... |
OMIM:210900 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Microphthalmia, Genu valgum, Anophthalmia, Hydrocephalus, Branchial anom... |
OMIM:164210 |
| Phace Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Abnormal heart morphology, Tetralogy of F... |
ORPHA:42775 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Papillary cystadenoma of the epididymis |
OMIM:193300 |
| Marburg Hemorrhagic Fever |
|
Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,... |
ORPHA:99826 |
| Steinert Myotonic Dystrophy |
|
Elevated circulating hepatic transaminase concentration, Intestinal pseudo-obstruction, Impotence... |
ORPHA:273 |
| Holoprosencephaly 1 |
|
Microphthalmia, Alobar holoprosencephaly, Microcephaly, Ethmocephaly, Agenesis of corpus callosum... |
OMIM:236100 |
| Congenital Tracheomalacia |
|
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Abnormal heart morphology... |
ORPHA:95430 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Spina bifida occulta, Finger syndactyly, Microcephaly, Camptodactyly of finger, Symphalangism aff... |
ORPHA:2990 |
| Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal pelvic girdle bone... |
OMIM:101400 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Craniosynostosis, Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia, Clinodactyly of the 5th finger, Aortic regurgitation, Single transverse palmar cr... |
OMIM:612474 |
| Orofaciodigital Syndrome Xiv |
|
Hypoplasia of the corpus callosum, Occipital encephalocele, Preaxial polydactyly, Cerebellar verm... |
OMIM:615948 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... |
OMIM:268300 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones |
OMIM:620558 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Faciocardiomelic Syndrome |
|
Microcephaly, Polydactyly, Slender long bone, Hypoplastic pelvis |
OMIM:612731 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Failure to thrive, Dystoni... |
ORPHA:521426 |
| Trisomy 8P |
|
Annular pancreas, Abnormal left ventricle morphology, Dysplastic aortic valve, Bifid uvula, Tetra... |
ORPHA:264450 |
| Hennekam Syndrome |
|
Lymphadenopathy, Pyloric stenosis, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary ly... |
ORPHA:2136 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:635 |
| Stolerman Neurodevelopmental Syndrome |
|
Broad palm, Clinodactyly of the 5th finger, Syndactyly |
OMIM:618505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microphthalmia, Buphthalmos, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Microcephaly, ... |
OMIM:253280 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Splenomegaly, Abnormal pulmonary ... |
ORPHA:667 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response |
OMIM:272750 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Congenital hip dislocation, Syndactyly, Short t... |
OMIM:263750 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormality of the thyroid gland |
ORPHA:52417 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Macroglossia |
OMIM:252500 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Saethre-Chotzen Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... |
ORPHA:794 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hypoplasia of the corpus callosum, Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Aort... |
ORPHA:268261 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Macrocephaly, Rhizomelia, Hypertension, Postaxial hand polydactyly, Mesomelia, Synda... |
OMIM:613610 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... |
OMIM:601214 |
| Carpenter Syndrome 2 |
|
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... |
OMIM:614976 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Prominent fingertip pads, S... |
OMIM:615873 |
| Simpson-Golabi-Behmel Syndrome |
|
Macrocephaly, Prolonged QT interval, Clinodactyly of the 5th finger, Short 2nd finger, Finger syn... |
ORPHA:373 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu... |
ORPHA:3464 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Tay-Sachs Disease |
|
Limited elbow extension, Tremor, Limited knee extension, Exaggerated startle response, Dystonia, ... |
ORPHA:845 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... |
ORPHA:2473 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Microphthalmia, High, narrow palate, Anteriorly placed anus, Gastroesophag... |
OMIM:612289 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,... |
OMIM:261740 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Periventricular leukomalacia, Preaxial polydactyly |
ORPHA:163681 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bil... |
ORPHA:69085 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Neuroocular Syndrome |
|
Periventricular leukomalacia, Microphthalmia, Deep palmar crease, Clinodactyly of the 5th finger,... |
OMIM:619539 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis |
ORPHA:2323 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Cardiomyopathy, Flat acetabular roof, Microcephaly, A... |
OMIM:216340 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Maternal diabetes, Hypospadias, Meckel diverticulum, A... |
ORPHA:1708 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly of the 5th finger, Relative macrocephaly, Syndactyly, Brachydactyly, Narrow joint sp... |
ORPHA:96182 |
| Prader-Willi Syndrome |
|
Acromicria, Radial deviation of finger, Genu valgum, Short foot, Narrow palm, Short palm, Syndact... |
OMIM:176270 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Hemobilia, Abnormal duodenum morphology, Neoplasm of the gallbladder... |
ORPHA:512 |
| Cog8-Cdg |
|
Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration |
ORPHA:95428 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Tricuspid valve prolapse, Retinal detachment, High palate, Intestinal malrotation, Cleft palate, ... |
OMIM:601776 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Gastrointestinal carcinoma, Duodenal polyposis, Adrenocortical adenoma,... |
ORPHA:247806 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos, Cleft soft palate, Abnormal heart morphology, Cleft palate, Abnormal pa... |
OMIM:154500 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Secondary microcephaly, Polydactyly, Syringomyelia, Deviation of the hallux, Broad distal phalanx... |
ORPHA:353277 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Optic nerve compre... |
ORPHA:79078 |
| Floating-Harbor Syndrome |
|
Kyphoscoliosis, Mesocardia, Hypospadias, Precocious puberty, Varicocele, Tetralogy of Fallot, Epi... |
ORPHA:2044 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Dysphagia, Right ventricular hypertrophy |
ORPHA:268 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Aganglionic megacolon, Hypospadias, Bifid scrotum, Ventricular septal defect, Pul... |
OMIM:235730 |
| Williams Syndrome |
|
Hypoplasia of penis, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve prolapse, Cardiom... |
ORPHA:904 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... |
OMIM:620066 |
| Kawasaki Disease |
|
Myocarditis, Cervical lymphadenopathy, Jaundice, Glossitis, Abnormal heart valve morphology, Leuk... |
ORPHA:2331 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response |
ORPHA:438216 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... |
ORPHA:1677 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea |
ORPHA:3217 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
| Norrie Disease |
|
Optic atrophy, Delayed puberty, Microphthalmia, Erectile dysfunction, Uterine rupture, Aplasia/Hy... |
ORPHA:649 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Microphthalmia, Hydrocephalus, Cortical dysplasia, P... |
OMIM:175780 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Papillorenal Syndrome |
|
Microphthalmia, Retinal detachment, Macular degeneration, Retinal coloboma, Optic disc coloboma |
OMIM:120330 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:609441 |
| Monosomy 22 |
|
Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palmar crease, Clubbing, Mic... |
ORPHA:96123 |
| Blau Syndrome |
|
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal... |
ORPHA:90340 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased response to growth hormone stimulation test, High palate, Hypoplasia o... |
OMIM:615866 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis |
OMIM:248340 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia |
ORPHA:85408 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy, T lymphocytopenia, Hypothyroidism, Lymphopenia, Autoimmune thrombocytopenia, Neu... |
OMIM:607944 |
| Mowat-Wilson Syndrome |
|
Microphthalmia, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morpholog... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Microphthalmia, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morpholog... |
ORPHA:261537 |
| Visceral Myopathy 1 |
|
Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ... |
OMIM:155310 |
| Cherubism |
|
Narrow palate, Macular scar, Optic neuropathy, Submandibular lymph node enlargement |
OMIM:118400 |
| Lymphedema-Distichiasis Syndrome |
|
Microphthalmia, Arrhythmia |
OMIM:153400 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Hemivertebrae, Aplasia of the uterus, Decreased calv... |
OMIM:276820 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Branchial anomaly, Microcephaly, Posta... |
ORPHA:352665 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Bilateral single transverse palmar creases, Toe syndactyly, Finger syndactyly, Palmoplantar hyper... |
ORPHA:3253 |
| Leptospirosis |
|
Jaundice, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Pericarditis, Papilledema, Thrombocy... |
ORPHA:509 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Optic disc hypoplasia, Iron deficiency anemia, Adenomatous colonic polyposis, High palate, Colon ... |
ORPHA:261584 |
| Culler-Jones Syndrome |
|
Postaxial polydactyly |
OMIM:615849 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short greater sciatic notch, Cardiomyopathy, Flared iliac wing, Pul... |
OMIM:312870 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Short foot, Camptodactyly, Metatarsus adductus, Syndactyly, Broad... |
OMIM:227330 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Secondary microcephaly, Dysplastic corpus callosum, Macrocephaly, Polymicrogyria, Holoprosencepha... |
OMIM:618820 |
| Loeys-Dietz Syndrome |
|
Craniosynostosis, Scoliosis, Uterine rupture |
ORPHA:60030 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Ambiguous genitalia, Hypospadias, Vesicovaginal f... |
OMIM:201750 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph... |
ORPHA:534 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Subcortical cerebral atrophy, Postaxial hand polydactyly, Split hand, Micromel... |
ORPHA:2753 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... |
ORPHA:365 |
| Robinow Syndrome |
|
Macrocephaly, Mesomelic arm shortening, Pulmonic stenosis, Mesomelia, Bifid distal phalanx of the... |
ORPHA:97360 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, High palate, Abnormality of the Leydig cells, Cleft palate, Cryptorchidism, Testicul... |
ORPHA:3063 |
| Asparagine Synthetase Deficiency |
|
Failure to thrive, Tremor, Exaggerated startle response |
OMIM:615574 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hypoplasia of the corpus callosum, Abnormal cortical gyration, Cerebellar vermis hypoplasia, Dand... |
ORPHA:480880 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia |
OMIM:617827 |
| Mckusick-Kaufman Syndrome |
|
Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation |
OMIM:236700 |
| Autosomal Dominant Robinow Syndrome |
|
Macrocephaly, Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short pal... |
ORPHA:3107 |
| Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc... |
OMIM:309000 |
| Tropical Endomyocardial Fibrosis |
|
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... |
ORPHA:75565 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Microphthalmia, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morpholog... |
ORPHA:261552 |
| Adult Syndrome |
|
Split foot, Toe syndactyly, Finger syndactyly |
ORPHA:978 |
| Genitopatellar Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Anal stenosis, Labial hypoplasia, Ventricular septal... |
OMIM:606170 |
| Alstrom Syndrome |
|
Polydactyly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:203800 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Microc... |
OMIM:261540 |
| African Trypanosomiasis |
|
Abnormality of renin-angiotensin system, Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Ab... |
ORPHA:3385 |
| Holoprosencephaly 2 |
|
Microphthalmia, Anterior pituitary agenesis, Diabetes insipidus, Bilateral cleft palate, Adrenal ... |
OMIM:157170 |
| Rapp-Hodgkin Syndrome |
|
Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Syndactyly |
OMIM:129400 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel... |
OMIM:130050 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... |
ORPHA:572333 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, Cardiomyopathy |
ORPHA:769 |
| Plague |
|
Hematemesis, Hepatomegaly, Glossitis, Lymphadenitis, Inflammation of the large intestine, Enteroc... |
ORPHA:707 |
| Fraser Syndrome 3 |
|
Hydrocephalus, Cutaneous syndactyly, Short toe |
OMIM:617667 |
| Mullegama-Klein-Martinez Syndrome |
|
Microcephaly, Polydactyly, Clinodactyly of the 5th finger |
OMIM:301022 |
| Loeys-Dietz Syndrome 2 |
|
Dural ectasia, Hydrocephalus, Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arac... |
OMIM:610168 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... |
ORPHA:980 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Failure to thrive, Opisthotonus, Thickened cortex of long bones, Sclerosis of skull base, Increas... |
OMIM:269150 |
| Lacrimoauriculodentodigital Syndrome |
|
Hypoplasia of the radius, Corneal neovascularization, Abnormal thumb morphology, Finger syndactyl... |
ORPHA:2363 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ... |
OMIM:181270 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Papillary thyroid carc... |
OMIM:175100 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Telangiectasia of the skin, ... |
ORPHA:1556 |
| Eec Syndrome |
|
Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Split hand, Ectr... |
ORPHA:1896 |
| Peters Plus Syndrome |
|
Optic atrophy, Hypospadias, Anterior hypopituitarism, Bicuspid pulmonary valve, Clitoral hypoplas... |
ORPHA:709 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, High, narrow palate, Cardiomegaly |
ORPHA:91387 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... |
OMIM:149730 |
| Interatrial Communication |
|
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... |
ORPHA:1478 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of... |
ORPHA:2907 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, Aqueductal stenosis, Polydactyly, Bidirectional shunt, Aortic re... |
OMIM:619534 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Macrocephaly, Hippocampal atrophy, Slender finger, Microcephaly, Broad thumb, Ra... |
OMIM:619325 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Brachydactyly, Down-sloping shoulders |
ORPHA:1974 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ... |
ORPHA:79500 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Brachydactyl... |
OMIM:617088 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response |
OMIM:620423 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Macrocephaly, Sandal gap, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Toe... |
OMIM:620330 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Osteopetrosis, Recurrent fractures |
ORPHA:2785 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the ha... |
OMIM:150230 |
| Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Umbilical hernia, Short toe, Brachydactyly, Ar... |
ORPHA:1519 |
| Loeys-Dietz Syndrome 1 |
|
Dural ectasia, Hydrocephalus, Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, A... |
OMIM:609192 |
| Viss Syndrome |
|
Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysp... |
OMIM:619472 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Genu varum |
ORPHA:1969 |
| Proteus Syndrome |
|
Macrodactyly, Macrocephaly, Sirenomelia, Abnormality of the wrist, Clinodactyly of the 5th finger... |
ORPHA:744 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypertension, Cardiomyopathy, Postaxial polydactyly, Syndactyly, Brachydactyly... |
ORPHA:110 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Anal stenosis, Hypospadias, Anteriorly placed anus, Labial hypoplasi... |
OMIM:601803 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Generalized Arterial Calcification Of Infancy |
|
Hepatic calcification, Ventricular hypertrophy, Retinal hemorrhage, Pericardial effusion, Pancrea... |
ORPHA:51608 |
| Vascular Ehlers-Danlos Syndrome |
|
Gastrointestinal infarctions, High, narrow palate, Hypospadias, Uterine rupture, Abnormal heart v... |
ORPHA:286 |
| Systemic Lupus Erythematosus |
|
Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia |
ORPHA:536 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Palmoplantar keratoderma, Finger syndactyly, Clinodactyly of the 5th finger |
ORPHA:1071 |
| Kindler Epidermolysis Bullosa |
|
Short 4th metacarpal, Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short... |
ORPHA:2908 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Osteoporosis, Exaggerated startle response, Dystonia, Joint hypermobility |
ORPHA:438213 |
| Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
| Full Nf2-Related Schwannomatosis |
|
Dysphagia, Remnants of the hyaloid vascular system |
ORPHA:637 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... |
OMIM:182250 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Joint hypermobility, Exaggerated startle response |
OMIM:619522 |
