Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod... |
ORPHA:166277 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Micrognathia, Large fontanel... |
ORPHA:2097 |
Osteochondrosis Of The Tarsal Bone |
|
Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... |
ORPHA:566943 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, Abnormality of the ... |
ORPHA:3152 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Larg... |
ORPHA:1525 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Optic atrophy, Joint hyperflexibility, Wormian bones, Short distal phalanx of finge... |
ORPHA:2787 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
C1Q Deficiency 3 |
|
Discoid lupus rash, Antinuclear antibody positivity, Recurrent bacterial meningitis |
OMIM:620322 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Increased bone mineral density, Epicanthus, Anteverted nares, Depressed nasal... |
ORPHA:163649 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... |
ORPHA:3416 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Radia... |
OMIM:614078 |
Trigonocephaly 2 |
|
Depressed nasal bridge, Downslanted palpebral fissures, Wide nasal bridge, Metopic synostosis |
OMIM:614485 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog... |
ORPHA:2619 |
Ck Syndrome |
|
Epicanthus, Prominent nasal bridge, Micrognathia, Almond-shaped palpebral fissure, Retrognathia, ... |
OMIM:300831 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosi... |
ORPHA:2790 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:277440 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Short metacarpal, Delayed epiphyseal ossification, Limited elbow extension,... |
OMIM:600969 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy |
ORPHA:99976 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Potocki-Shaffer Syndrome |
|
Epicanthus, 2-5 finger cutaneous syndactyly, Brachydactyly, Telecanthus, Underdeveloped nasal ala... |
OMIM:601224 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Large fontanelles, Depressed nasal ridge, Mandibular aplasia, Sho... |
ORPHA:1832 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Abnormal limb bone morphology, Limitation of joint mobility,... |
ORPHA:85435 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Epicanthus, Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose |
OMIM:300577 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Acrocephalopolydactyly |
|
Epicanthus, Genu recurvatum, Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Prematur... |
ORPHA:221054 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
Complement Component 8 Deficiency, Type I |
|
Meningitis, Systemic lupus erythematosus |
OMIM:613790 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia |
ORPHA:60026 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Joint stiffness, Avascular necrosis of the capital femora... |
OMIM:132400 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Carious tee... |
ORPHA:53 |
17Q21.31 Microduplication Syndrome |
|
Epicanthus, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Synophrys, Clinodactyly o... |
ORPHA:217340 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Femoral bowing, Wormian bones, Short 4th metacarpal, Broad thumb, Short 5th met... |
OMIM:619638 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Intrauterine growth retardation, Viral encephalitis |
OMIM:619441 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micro... |
ORPHA:2484 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Trigonocephaly 1 |
|
Epicanthus, Craniosynostosis, Synophrys, Wide nasal bridge, Upslanted palpebral fissure, Metopic ... |
OMIM:190440 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arc... |
ORPHA:178303 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent n... |
OMIM:614886 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Congestive heart failure, Growth delay, Abnormal aortic valv... |
ORPHA:1194 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... |
OMIM:610967 |
Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Anteverted nares, Short nose |
ORPHA:46 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... |
OMIM:618618 |
Gnathodiaphyseal Dysplasia |
|
Broad jaw, Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, T... |
ORPHA:53697 |
Metatropic Dysplasia |
|
Depressed nasal bridge, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffnes... |
ORPHA:2635 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal ... |
OMIM:618577 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Abnormality of the elbow, Limitation of joint mobility, Slende... |
ORPHA:1486 |
L-2-Hydroxyglutaric Aciduria |
|
Neoplasm of the nervous system, Infectious encephalitis |
ORPHA:79314 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Optic atrophy, Recurrent fractures |
ORPHA:2773 |
Hao-Fountain Syndrome |
|
Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure |
OMIM:616863 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Congestive heart failure, Autoimmune antibody positivity, Cardiomyopathy,... |
ORPHA:3386 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... |
OMIM:613849 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ankle swelling, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Hypertension... |
OMIM:166300 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Meningitis, Fulminant hepatitis, Vasculitis, Lymphoma, Recurren... |
OMIM:308240 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Mi... |
ORPHA:93329 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:264700 |
Q Fever |
|
Rheumatoid factor positive, Abnormal left ventricular function, Cholecystitis, Lupus anticoagulan... |
ORPHA:781 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... |
ORPHA:171839 |
Proteus Syndrome |
|
Depressed nasal bridge, Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Calvarial hyperost... |
OMIM:176920 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hypertension |
OMIM:610947 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Infectious encephalitis, Hypotension |
ORPHA:99825 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Iliac crest serration, Anteverted nares, Depressed nasal bridge, Wide distal femoral m... |
OMIM:613320 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... |
OMIM:614732 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones... |
ORPHA:1798 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Hypoplasia of the maxilla, Osteoarthritis, Abnormal vitreous humor morphology... |
ORPHA:90653 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... |
OMIM:105835 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Coxa valga, Carious teeth, Wide... |
OMIM:269300 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Mandibular prognathia, Ptosis, Brachydactyly, Narrow nasal bridge, Abnormality of the wrist, Abno... |
ORPHA:2511 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... |
ORPHA:93351 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Lacrimal duct stenosis, Pneumonia, Depressed nasal bridge, Short me... |
OMIM:613328 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Abnormality of... |
ORPHA:2412 |
Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Epicanthus, Wide nose, Camptodactyly of finger, Crani... |
ORPHA:3210 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Epicanthus, Broad hallux, Depressed nasal bridge, Highly arched eyebrow,... |
OMIM:614541 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Recurrent infections |
OMIM:616098 |
Fg Syndrome 5 |
|
Epicanthus, Depressed nasal bridge, Anteverted nares, Upslanted palpebral fissure, Metopic synost... |
OMIM:300581 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure |
ORPHA:46532 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Ptosis, Short metacarpal, Short fourth metatarsal, Overlapping toe, Epicanthus, Crani... |
OMIM:616723 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Meningitis |
OMIM:617900 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Arrhythmia, Infectious encepha... |
ORPHA:99745 |
Lyme Disease |
|
Meningitis, Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del... |
OMIM:620099 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Epicanthus, Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premat... |
ORPHA:3369 |
Eales Disease |
|
Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic... |
ORPHA:40923 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Retinal detachment, Metaphyseal widening, Osteopor... |
ORPHA:2788 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Genu recurvatum, Anteverted nares, Optic atrophy, Reduced bone mineral density, Slend... |
ORPHA:1185 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ... |
OMIM:156510 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty... |
OMIM:175700 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Depressed nasal bridge, Cortical s... |
OMIM:122860 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint ... |
OMIM:208230 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Optic atrophy, Red... |
ORPHA:561 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl... |
ORPHA:63442 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Recurrent herpes, Patent foramen ovale, Infectious encepha... |
ORPHA:391487 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Short nose |
OMIM:125700 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary teeth, 4-5 finger s... |
OMIM:257850 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abnormal sacroiliac joint morphology, Cr... |
ORPHA:324964 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral dermatomyosi... |
OMIM:307200 |
Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,... |
ORPHA:2409 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul... |
ORPHA:289157 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga |
OMIM:615612 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Dis... |
OMIM:608154 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Split hand, Malar flattening, Short nose, Conv... |
ORPHA:2145 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na... |
ORPHA:2863 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Large fontanelles, ... |
OMIM:259100 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Broad hallux, Depressed nasal bridge, Short thumb, Premature osteoarthriti... |
OMIM:165800 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Meningitis, Infectious encepha... |
ORPHA:36234 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Meningitis |
OMIM:613002 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Premature ost... |
OMIM:184840 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Gastrointestinal hemorrhage, Congestive heart failure, Bone cyst, Abnormal shoulder ... |
ORPHA:85446 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Meningitis, Unusual CNS i... |
ORPHA:1163 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit... |
OMIM:142669 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con... |
OMIM:208250 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Hypotension, Infectious encephalitis |
ORPHA:83317 |
Frontonasal Dysplasia 1 |
|
Ptosis, Epicanthus, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand p... |
OMIM:136760 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger sy... |
OMIM:601390 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Choanal stenosis, Malar flattening,... |
OMIM:241310 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Abnormal pelvis bone morphology, Osteomye... |
ORPHA:73 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal limb bo... |
ORPHA:2204 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... |
OMIM:619126 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Micrognat... |
OMIM:265800 |
Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Inc... |
ORPHA:37748 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Depressed nasal bridg... |
ORPHA:61 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... |
OMIM:619736 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Congenital Atransferrinemia |
|
Arthritis, Anemia |
ORPHA:1195 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Meningitis, Arthritis, Conjunctivitis, Intrauterine growth re... |
ORPHA:448237 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Clino... |
OMIM:201000 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Telecanthus, Short femur, Fractured radius, Anteverted nares, Decreased fibular diame... |
OMIM:616897 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd... |
ORPHA:2710 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... |
OMIM:133780 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Camptodactyly of finger, Joint stif... |
ORPHA:1466 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, H... |
OMIM:145420 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly |
ORPHA:2762 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossifica... |
OMIM:259440 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures, Delayed... |
ORPHA:1129 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Epicanthus, Micrognathia, Facial hyper... |
ORPHA:2780 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Epicanthus, Anteverted nares, Short nose, Micrognathia |
ORPHA:2015 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Multiple suture craniosynostosis, Conj... |
ORPHA:207 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... |
OMIM:618982 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Epicanthus, Wide nose, Depressed nasal ri... |
ORPHA:2831 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Papilledema, Sclerotic cranial sutures, Osteolysis involving bones of th... |
ORPHA:371428 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Osteolytic defects of the phalang... |
OMIM:161700 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Splenomeg... |
ORPHA:2746 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Cohen Syndrome |
|
Short metacarpal, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye ma... |
OMIM:216550 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphology, Arthralgia of t... |
ORPHA:166011 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... |
OMIM:615546 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic... |
ORPHA:93324 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of... |
ORPHA:47612 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ... |
OMIM:231070 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis, Recurrent pharyngitis |
ORPHA:42642 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia |
ORPHA:100024 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars... |
OMIM:614613 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Ptosis, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Li... |
ORPHA:2796 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... |
ORPHA:139402 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Eczema, Craniosynostosis, Micrognathia, Absent thumb, Carious... |
ORPHA:96097 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... |
OMIM:609220 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Sho... |
ORPHA:90650 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Epicanthus, Genu recurvatum, Camptodactyly of finge... |
ORPHA:915 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl... |
ORPHA:1452 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... |
ORPHA:99642 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Craniosynostosis, Wide anterior fontanel, Wormian bones, Malar flattening, Shor... |
OMIM:601853 |
Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arth... |
ORPHA:2771 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, S... |
ORPHA:969 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal interphalangeal j... |
OMIM:607850 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Joint hyperflexibility, Blepharophimosis, Short nose, Downs... |
ORPHA:1695 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Mandibular prognathia, Epicanthus, Toe syndactyly, Telecanthus, Camptodactyly of f... |
ORPHA:1327 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Telangiectasia of the... |
ORPHA:75508 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, Short palm, Short phalanx of finger, Cortical irregularity, Acne, Antev... |
OMIM:249420 |
14Q11.2 Microdeletion Syndrome |
|
Epicanthus, Toe syndactyly, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Toe clin... |
ORPHA:261120 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density |
ORPHA:172 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Arthritis, Keratoconjunctivitis sicca, Infectious encephal... |
ORPHA:779 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:97290 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Melanoma, Neoplasm, Infectious encephalitis |
ORPHA:2481 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
Lymphoproliferative Syndrome 2 |
|
Lymphoproliferative disorder, Severe varicella zoster infection, Lymphoma, Recurrent pneumonia, E... |
OMIM:615122 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit... |
ORPHA:319487 |
Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Meningitis, Hepatitis, Cardiomyopathy, Hypotension,... |
ORPHA:292 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ... |
OMIM:252100 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Absent ossification of calvaria, Mult... |
OMIM:166210 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Nablus Mask-Like Facial Syndrome |
|
Telecanthus, Sandal gap, Sparse eyelashes, Short hallux, Tapered finger, Hypoplasia of the maxill... |
OMIM:608156 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Depressed nasal bridge, Periarticular soft-tissue mass, Synovitis, Hyperexte... |
OMIM:601492 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Keratitis, Optic atr... |
OMIM:123500 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Multi... |
OMIM:259410 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis |
ORPHA:205 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp... |
ORPHA:86820 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Ptosis, Epicanthus, Depressed ... |
ORPHA:794 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Abnormal fibula mor... |
ORPHA:85198 |
Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:95717 |
Tenorio Syndrome |
|
Mandibular prognathia, Osteopenia, Joint laxity, Telecanthus, Thick eyebrow, Anteverted nares, Wi... |
OMIM:616260 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Endocarditis, Hypotension, Arrhythmi... |
ORPHA:549 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Shallow orbits, Worm... |
OMIM:112240 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... |
ORPHA:93311 |
Codas Syndrome |
|
Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Epicanthus, Abno... |
ORPHA:1458 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Ivory epiphyses of the distal phalanges ... |
OMIM:190350 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Short stature, Ventricular septal defect, Congestive heart fail... |
ORPHA:354 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Lambdoidal craniosynost... |
OMIM:616294 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Epicanthus, Telecanthus, Overlapping toe, Thick eyebrow, Anteverted nares, F... |
OMIM:619383 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Prominent metopic ridge, Palpebral edema, Depressed nasal brid... |
ORPHA:261144 |
Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Aplastic anemia, Long nose, Patellar hypoplasia, Neutropenia, Shor... |
ORPHA:221016 |
Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Meningococcal Meningitis |
|
Skin rash, Shock, Infectious encephalitis, Hypotension |
ORPHA:33475 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Short toe, Osteoarthritis, Abnormality of the elbow, Abn... |
ORPHA:429 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal eyelid morphology, Hypoplasia of the maxilla, Upper eyelid coloboma, Aplasia/Hypoplasia ... |
ORPHA:2095 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis |
ORPHA:139436 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Metaphy... |
OMIM:263210 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Hip contracture, Microretrognathia, Coxa valga, Micrognathia, Carious teet... |
OMIM:618363 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... |
OMIM:222600 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, A... |
ORPHA:247691 |
Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Congenital hip dislocation, Clinodactyly of the 5th finger, Short nose, Downslanted pa... |
ORPHA:217385 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive clavicula... |
OMIM:608612 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Persistent open anterior fontanelle, Telecanthus, Arachnodactyly, Mitral regurgitat... |
OMIM:615539 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,... |
OMIM:300310 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Micrognathia |
ORPHA:1423 |
Chung-Jansen Syndrome |
|
Epicanthus, Thick eyebrow, Anteverted nares, Micrognathia, Tapered finger, Synophrys, Upslanted p... |
OMIM:617991 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Long nose, Bilateral ptosis, Pansynostosis, Downsl... |
OMIM:180750 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
Coffin-Siris Syndrome 6 |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Broad nasal tip, Narrow palpebral fissure, Worm... |
OMIM:617808 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Microgn... |
OMIM:620157 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Epicanthus, Overlapping toe, Anteverted nares, Postaxial polydactyly, Mi... |
OMIM:613792 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Micrognathia, Prominent nose, Long nose, Prominent metopic ridge, Highly arched eyebrow, Optic di... |
ORPHA:2995 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Enlarged joints, Anteverted nares, Depressed nasal bridge, Large tarsal bon... |
OMIM:215150 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi... |
OMIM:619248 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Uveitis,... |
ORPHA:3452 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa... |
ORPHA:1822 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Micrognathia, Bilateral ptosis, Osteoarthritis, Squared iliac bones, H... |
OMIM:618000 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Calci... |
ORPHA:1416 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... |
OMIM:600920 |
Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Short nose |
ORPHA:1495 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Epicanthus, Anteverted nares, Carious teeth, Abnormality of the elbow, Short nose, Pulmonic steno... |
ORPHA:2701 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Wormian bones, Bowi... |
OMIM:619131 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia |
ORPHA:2582 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro... |
ORPHA:633 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er... |
OMIM:619322 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Autosomal Recessive Primary Microcephaly |
|
Upslanted palpebral fissure, Abnormal cortical bone morphology |
ORPHA:2512 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit... |
OMIM:604416 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis, Autoimmunity |
ORPHA:363558 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Joint stiffness, Metatarsus adductus, Elbow disloca... |
ORPHA:2249 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Rec... |
ORPHA:314655 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Metaphyseal widening, Flexion contracture, Short metatarsal, Coxa vara, Double-laye... |
ORPHA:93307 |
Avian Influenza |
|
Pneumonia, Congestive heart failure, Meningitis, Hepatitis, Conjunctivitis, Infectious encephalit... |
ORPHA:454836 |
Peho-Like Syndrome |
|
Epicanthus, Tapered finger, Optic atrophy, Short nose, Retrognathia |
OMIM:617507 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Hypoplasia of the ulna, A... |
ORPHA:2909 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Hypopla... |
ORPHA:261295 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Optic disc pallor, Wormian bones, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Meta... |
OMIM:300232 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Cataract, Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Anteverted nares, Depressed ... |
ORPHA:221139 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto... |
OMIM:613101 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Hypoplasia of t... |
OMIM:167730 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ... |
ORPHA:485 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Craniosynostosis, Optic disc coloboma, Upslanted palpebral fissure, Choanal ste... |
ORPHA:1790 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Flexion contracture, Hypoplastic iliac wing, Short palm, Short p... |
OMIM:611717 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Recurrent fractures, ... |
OMIM:616229 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Telecanthus, Hypoplas... |
ORPHA:397973 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Shall... |
OMIM:182212 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
Cerebral Visual Impairment |
|
Unusual CNS infection, Intracranial hemorrhage, Ischemic stroke, Meningitis, Infectious encephalitis |
ORPHA:447788 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... |
OMIM:620269 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the temporomandibular joint, Abnormal metatarsal morphology, Knee osteoarthritis, ... |
ORPHA:85408 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, R... |
ORPHA:117 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Large fon... |
ORPHA:3078 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Craniosynostosis 6 |
|
Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu... |
OMIM:616602 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Malar flattening, Short nose, Retrognathia, Downslanted palpebral fissures |
OMIM:613670 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Epicanthus, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Bi... |
ORPHA:314679 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the wrist, Keratitis, Osteoarthritis, Osteolysis, Abnormal diap... |
ORPHA:1657 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Stickler Syndrome, Type I |
|
Arthropathy, Retinal detachment, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Microg... |
OMIM:108300 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Sandal gap, Depressed nasal bridge, Micrognathia, Tombstone-shaped proximal phalan... |
OMIM:108721 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Genu recurvatum, Metaphyseal widening... |
OMIM:184260 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar dislocation, Sho... |
ORPHA:93328 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Narrow nasal ridge, Bulbous nos... |
OMIM:612940 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Telecanthus, Joint stiffness, Synophrys, Anosmia, Genu valgum, Hypoplasia of the z... |
ORPHA:1295 |
3Mc Syndrome 2 |
|
Ptosis, Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Craniosynos... |
OMIM:265050 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Malar flattening, Osteoarthritis, Micrognathia, Abnormal metacarpal morphology |
ORPHA:166100 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Atopic dermatitis, Retinal neovascularization, Micrognathia |
OMIM:619074 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Craniosynostosis, Supernumerary tooth, Metopic synostosis, Triphalangeal th... |
OMIM:604757 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures, Epicanthus, Dental malocclusion, Wide nasal bridge, Upslanted palpebral fis... |
OMIM:619149 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat... |
ORPHA:33110 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly of finger, Crani... |
ORPHA:2462 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Recurrent pneumonia, Lymphoma, Bronchiectasis, Recurrent bacterial infections, Neop... |
OMIM:240500 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increas... |
ORPHA:397596 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Delayed closure of the anterior fontanelle, Lambdoidal craniosynostosis, ... |
OMIM:618736 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Epicanthus, Anteverted nares, Micrognathia, Bulbous nose, Short nose, Wide nasal bridge, Narrow p... |
OMIM:613604 |
Listeriosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Unusual skin infection, Pneumonia, Pustule, Myocardit... |
ORPHA:533 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contracture, Short tib... |
OMIM:601559 |
Achondrogenesis |
|
Anteverted nares, Abnormal enchondral ossification, Micrognathia, Abnormality of bone mineral den... |
ORPHA:932 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Synophrys, Reduced bone mineral density, Genu valgum, Short nose, Spina bifida occulta |
ORPHA:2983 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Epicanthus, Anteverted nares, Short nose |
ORPHA:1450 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Epicanthus, Dep... |
OMIM:608022 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Hallux valgus, Mandibular prognathia, Swan neck-like deformities of the fingers, Epicanthus, Prom... |
OMIM:619880 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
Marshall Syndrome |
|
Retinal detachment, Sparse eyelashes, Anteverted nares, Depressed nasal bridge, Micrognathia, Hyp... |
ORPHA:560 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... |
ORPHA:26790 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti... |
OMIM:610968 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Weiss-Kruszka Syndrome |
|
Ptosis, Prominent metopic ridge, Epicanthus, Anteverted nares, Highly arched eyebrow, Proximal pl... |
OMIM:618619 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Keipert Syndrome |
|
Broad hallux phalanx, Ptosis, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Short h... |
ORPHA:2662 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi... |
ORPHA:313855 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ... |
OMIM:300755 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene... |
ORPHA:93360 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Short 3rd metacar... |
OMIM:118651 |
20Q11.2 Microduplication Syndrome |
|
Prominent metopic ridge, Epicanthus, Palpebral edema, Anteverted nares, Depressed nasal bridge, W... |
ORPHA:363659 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Recurrent skin infections, Blepharophimosis, Broad nasal tip, Flexion cont... |
ORPHA:391372 |
Achondrogenesis Type 1A |
|
Anteverted nares, Recurrent fractures, Micrognathia, Abnormal enchondral ossification, Short foot... |
ORPHA:93299 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au... |
OMIM:615559 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Elbow dislocation, Limitation of joint mobilit... |
ORPHA:2741 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Abnormal s... |
ORPHA:793 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Herpes simplex encephalitis, Recurrent aphthous stomatitis |
OMIM:614850 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Knee flexion contracture, Spina bifida occulta, Wrist f... |
OMIM:193700 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Ptosis, Abnormal dental enamel morphol... |
ORPHA:3258 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Neutro... |
OMIM:271510 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Pierpont Syndrome |
|
Telecanthus, Wide nose, Blepharophimosis, Broad nasal tip, Short toe, Short foot, Narrow palpebra... |
OMIM:602342 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Hip osteoarthritis, Flattened metacarpal heads |
OMIM:271600 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Osteoarthritis, Short metatarsal... |
OMIM:271650 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Persistence of primary teeth, Vasculitis, Arthritis, Anemia |
ORPHA:375 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... |
OMIM:619375 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Sandal gap, Anteverted nares, Short toe, Synophrys, Short nose, Spina bifida occulta,... |
OMIM:617877 |
Hartnup Disease |
|
Skin rash, Infectious encephalitis, Short stature |
ORPHA:2116 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
Menkes Disease |
|
Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Intracranial hemorrhage, Wor... |
OMIM:309400 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Spa... |
OMIM:614008 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Wormian bones, Congenital hip dislocation, Anemia |
OMIM:614450 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Epicanthus, Anteverted nare... |
OMIM:211750 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:617201 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-sha... |
ORPHA:166272 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hypoplasia, Thick nasal alae, ... |
ORPHA:79345 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone... |
OMIM:618961 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis, Proximal femoral epiphysiolysis |
OMIM:182260 |
Hypochondroplasia |
|
Brachydactyly, Depressed nasal bridge, Flared metaphysis, Short long bone, Short femoral neck, Ma... |
OMIM:146000 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Short thumb, Synoph... |
ORPHA:401935 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Short phalanx of finger, Genu varu... |
ORPHA:221008 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, Br... |
ORPHA:73263 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Micrognathia, Generalized joint ... |
OMIM:613848 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Cdags Syndrome |
|
Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Large fontanelles, Short ... |
OMIM:603116 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Keratitis... |
ORPHA:31204 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Epicanthus, An... |
OMIM:101800 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Broad eyebrow |
OMIM:618302 |
Linear Iga Dermatosis |
|
Renal neoplasm, Autoimmunity, Epistaxis, Bladder neoplasm, Inflammation of the large intestine |
ORPHA:46488 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Epicanthus, Depressed nasal bridge, Craniosynostosis, Micrognathia, Blephar... |
OMIM:614114 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Abnormal metaphyseal tr... |
OMIM:224300 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Osteoporosis, Ankle... |
OMIM:615398 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... |
OMIM:155050 |
Achondrogenesis Type 1B |
|
Anteverted nares, Abnormal enchondral ossification, Micrognathia, Short foot, Short nose |
ORPHA:93298 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Vasculitis in the skin, Recurrent otit... |
OMIM:620321 |
White-Kernohan Syndrome |
|
Joint laxity, Epicanthus, Telecanthus, Thick eyebrow, Anteverted nares, Depressed nasal bridge, U... |
OMIM:619426 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
Peripheral Dysostosis |
|
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Distal Deletion 10Q |
|
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Clinodactyly of the... |
ORPHA:96148 |
Microsporidiosis |
|
Brain abscess, Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenit... |
ORPHA:2552 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Short... |
ORPHA:85279 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormal pelvis bone morphology |
ORPHA:2206 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Retinal detachment, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges... |
OMIM:609616 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Proximal placement of ... |
OMIM:217980 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal eyelid morphology, Neutropenia, Clinodactyly of... |
ORPHA:193 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal phalanges of th... |
OMIM:271665 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... |
OMIM:144750 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... |
OMIM:614749 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Hip dysplasia, Flexion contracture, Short nose |
OMIM:618379 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micrognathia, Abnormal tibia morphol... |
ORPHA:666 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Small anterior font... |
OMIM:617802 |
Ruvalcaba Syndrome |
|
Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Abnormality of the elbow, S... |
ORPHA:3121 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Hypertension, Serositis |
ORPHA:567544 |
Craniosynostosis 4 |
|
Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, Lambdoi... |
OMIM:600775 |
Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hypermobility, Short p... |
OMIM:212720 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating IgG level, Epicanthus, Anteverted nares, Pneumonia, Depressed nasal bridge,... |
OMIM:614069 |
Poliomyelitis |
|
Meningitis, Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis |
ORPHA:2912 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Wrist swelling, Polyartic... |
ORPHA:2848 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Telecanthus, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia ... |
ORPHA:364577 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:618261 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Cran... |
OMIM:252600 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Laterally extended eyebrow, Epicanthus, Rocker bottom foot, Highly arche... |
OMIM:618804 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Carious teeth, Congestive heart failure, Flexion contracture, Osteoly... |
ORPHA:220393 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia, Carious teeth, Choanal a... |
ORPHA:1716 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Telecant... |
ORPHA:50945 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Prominent metopic ridge, Anteverted nares, Micrognathia, Synophrys, Bulbous nose, Wide nasal brid... |
OMIM:619320 |
Incontinentia Pigmenti |
|
Short stature, Skin rash, Telangiectasia of the skin, Keratitis, Congestive heart failure, Retina... |
ORPHA:464 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Retinal detachment, Depressed nasal bridge, Micrognathia, Coxa val... |
OMIM:619833 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosis, Coxa valga,... |
OMIM:231050 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... |
ORPHA:3156 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Abnormality of the nose, Splenomegaly, Vasculit... |
ORPHA:575 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,... |
ORPHA:508533 |
Oculodentodigital Dysplasia |
|
Clinodactyly, Uveitis, Joint contracture of the 5th finger, Short middle phalanx of the 5th finge... |
OMIM:164200 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho... |
OMIM:615485 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Curly... |
ORPHA:163654 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Large fontanelles, Osteolysis, O... |
ORPHA:90154 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... |
OMIM:302950 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Depressed nasal bridge, Wide anterior fontanel, Short nose... |
ORPHA:2143 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Optic atrophy, Epiphyseal stippling, S... |
ORPHA:1914 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Broad nasal tip, Hip di... |
OMIM:615583 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Abnormal epiphysis morphology |
ORPHA:93283 |
Faciocardiomelic Syndrome |
|
Osteopenia, Ptosis, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental m... |
OMIM:612731 |
Majeed Syndrome |
|
Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Congen... |
ORPHA:77297 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Psoriasiform dermatitis,... |
OMIM:617237 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodacty... |
OMIM:618506 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Localized Scleroderma |
|
Fasciitis, Abnormality of the nose, Raynaud phenomenon, Flexion contracture, Dental malocclusion,... |
ORPHA:90289 |
Au-Kline Syndrome |
|
Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ridge, Sagittal craniosynostosi... |
OMIM:616580 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short... |
OMIM:170390 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil... |
ORPHA:464370 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Short foot, Slender long b... |
OMIM:244460 |
Familial Melanoma |
|
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach |
ORPHA:618 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla,... |
ORPHA:245 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Epicanthus, Toe syndactyly, Tricuspid regurgitation, Camptodactyly of finger, ... |
ORPHA:261211 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Down-sloping shoulders, Narrow nasal ridge, Coxa valga, Micrognathia, Joint stiffness... |
OMIM:248370 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Poikiloderma With Neutropenia |
|
Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Joint laxity, Depressed nasal bridge, Spar... |
OMIM:604173 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Broad eyebrow, Broad hallux, Arachnodactyly, Anteverted nares, Hypoplasia of the maxilla, Bulbous... |
ORPHA:481152 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... |
OMIM:166200 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
Familial Thyroid Dyshormonogenesis |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:95716 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... |
ORPHA:1345 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Bull's eye maculopathy, Micrognathia, Hypoplasia of the ... |
OMIM:213980 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Upslanted palpebral fissure, Ab... |
ORPHA:1988 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Hypoplasia of the maxilla, Clinodactyly, Chronic otitis media, Short phala... |
OMIM:614188 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Long eyelashes, Short nose, Spina bifida oc... |
ORPHA:1514 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... |
ORPHA:98850 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Dep... |
OMIM:259775 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Prominent nose, Short middle phalanx of the 2nd finger, Partial duplicat... |
OMIM:617926 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhyt... |
OMIM:602390 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Optic nerve hypoplasia, Highly arched eyebrow, P... |
OMIM:618828 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy |
OMIM:605258 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Ohdo Syndrome |
|
Joint laxity, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyebrow,... |
OMIM:249620 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fra... |
OMIM:618188 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb... |
OMIM:608184 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Hemochromatosis, Type 3 |
|
Arthritis, Cardiomyopathy, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Micrognathia, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger... |
ORPHA:251028 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Synophrys, Bulbous nose, Optic atrophy, Upslanted palpebral fissure, T... |
OMIM:618737 |
Cinca Syndrome |
|
Joint dislocation, Delayed closure of the anterior fontanelle, Abnormality of neutrophils, Retrob... |
ORPHA:1451 |
Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Thickened cortex of long bones, Myocardial fibrosi... |
OMIM:253250 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger, Wide nasal bridge |
OMIM:309620 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Ptosis, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Abnormal metacarpal morphology... |
ORPHA:93262 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Synophrys, Short nose, Thick eyebrow |
ORPHA:2429 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge, Highly arched eyebrow, Ptosis |
ORPHA:438178 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Epicanthus, Prominent nasal bridge, Broad nasal tip, Micrognathia, Upslanted palpeb... |
OMIM:613544 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Clark-Baraitser Syndrome |
|
Epicanthus, Sandal gap, Anteverted nares, Depressed nasal bridge, Upslanted palpebral fissure, Na... |
OMIM:617752 |
Sydenham Chorea |
|
Septic arthritis, Endocarditis |
ORPHA:306731 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Osteopetrosi... |
OMIM:607634 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Takayasu Arteritis |
|
Increased inflammatory response, Myocardial infarction, Vasculitis, Anemia, Arthritis, Hypertensi... |
ORPHA:3287 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ... |
ORPHA:776 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Cartilage destruction, Myocarditis, Leukocytosis, Splenome... |
ORPHA:829 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis |
OMIM:120100 |
Cinca Syndrome |
|
Papilledema, Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomeg... |
OMIM:607115 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture... |
OMIM:224690 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... |
ORPHA:2547 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin... |
OMIM:614379 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Dislocated radial head, Joint laxity... |
OMIM:102500 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Camptodactyly of finger, Recurrent fractures, Trismus, Meta... |
ORPHA:3206 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bowing, Femoral... |
OMIM:602111 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hip dislocation, Wide nasal bridge, Neutropenia, Joint contracture, Retrognathia, Sho... |
OMIM:618005 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop... |
OMIM:239100 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... |
ORPHA:449280 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Highly arched eyebrow, Tapered finger, Broad nasal tip, Short toe, Wide na... |
OMIM:239300 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Choanal stenosis... |
OMIM:269150 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis |
ORPHA:540 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Prominent nasal bridge, Underdevelo... |
ORPHA:2083 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Aortic regurgitation, Hip dislocation, Wormian bones, Delayed cranial s... |
OMIM:616603 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Tetrasomy 5P |
|
Epicanthus, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Long fingers, Wide ant... |
ORPHA:3309 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Advanced eruption of teeth, Thick nasal alae, Short metacarpal, Pseudo... |
ORPHA:192 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Distichiasis, Anemia, Micrognathia |
ORPHA:2598 |
Farber Disease |
|
Abnormality of the knee, Thrombocytopenia, Short toe, Abnormality of the elbow, Osteoporosis, Fle... |
ORPHA:333 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis |
OMIM:611762 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... |
ORPHA:1304 |
Morgagni-Stewart-Morel Syndrome |
|
Acne, Osteoarthritis, Osteoporosis, Hypertension, Hyperostosis frontalis interna |
ORPHA:77296 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal ... |
OMIM:277450 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Dilated cardiom... |
ORPHA:3342 |
Pontocerebellar Hypoplasia, Type 2E |
|
Epicanthus, Wide nose, Micrognathia, Flexion contracture, Optic atrophy, Osteoporosis, Facial tel... |
OMIM:615851 |
Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Depressed nasal bri... |
OMIM:258315 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Short stature, Herpes simplex encephalitis, Recurrent upper respirator... |
OMIM:233600 |
Dend Syndrome |
|
Prominent metopic ridge, Anteverted nares, Elevated hemoglobin A1c, Bilateral ptosis, Clinodactyl... |
ORPHA:79134 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo... |
ORPHA:536467 |
Fetal Hydantoin Syndrome |
|
Epicanthus, Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Triphalange... |
ORPHA:1912 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micrognathia, Postaxial hand polydactyly, Hip dislocation... |
OMIM:241800 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis... |
OMIM:618935 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Lowe... |
OMIM:616462 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short nose, Hypoplastic p... |
OMIM:614524 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Malar flatte... |
OMIM:219200 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sp... |
OMIM:605627 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Long fingers, Synophrys, Ulnar ... |
ORPHA:1895 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Gapo Syndrome |
|
Epicanthus, Sparse eyelashes, Joint hypermobility, Delayed closure of the anterior fontanelle, Mi... |
OMIM:230740 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,... |
OMIM:218000 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Tricuspid regurgitation, Anteverted nare... |
ORPHA:228396 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Short nose, Short palpebral fissure, Bilateral choanal... |
ORPHA:1200 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Decreased circu... |
OMIM:616638 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, Metaphyseal cupping of metacarp... |
OMIM:300863 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe... |
OMIM:613805 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C... |
OMIM:612714 |
Baker-Gordon Syndrome |
|
Joint laxity, Prominent nasal tip, Epicanthus, Short nose |
OMIM:618218 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... |
OMIM:617780 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Perlman Syndrome |
|
Epicanthus, Anteverted nares, Micrognathia, Wide nasal bridge, Short nose, Retrognathia, Ptosis |
ORPHA:2849 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Anterior uveitis, Aortic regurg... |
ORPHA:85438 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Absent eyebrow, Congenital hip dislocation, Spa... |
OMIM:268400 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Blepharophimosis, Metatarsus adductus, Cubitus valgus... |
OMIM:611962 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Micrognathia, H... |
OMIM:210730 |
Ogden Syndrome |
|
Microretrognathia, Broad hallux, Underdeveloped nasal alae, Aplasia/Hypoplasia of the eyebrow, Sh... |
ORPHA:276432 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomega... |
OMIM:256550 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... |
OMIM:211600 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Orchitis, Pustule, Vasculitis, Arthritis, I... |
ORPHA:761 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti... |
OMIM:616100 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
Alkaptonuria |
|
Joint dislocation, Myocardial infarction, Joint stiffness, Cartilage destruction, Abnormality of ... |
ORPHA:56 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variation in bone mi... |
OMIM:215140 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Epicanthus, Telecanthus, Delayed closure of the anterior fontanelle, Mi... |
OMIM:225410 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... |
ORPHA:93352 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Desbuquois Dysplasia 2 |
|
Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx of finger, Genu varum, Joint lax... |
OMIM:615777 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose, Dela... |
OMIM:613038 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Join... |
ORPHA:809 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cystic rena... |
OMIM:613730 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis |
ORPHA:75234 |
Lathosterolosis |
|
Prominent metopic ridge, Toe syndactyly, Epicanthus, Anteverted nares, Micrognathia, Postaxial ha... |
ORPHA:46059 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Optic atrophy, Upslanted palpebral fissure, Hip dysplasia, H... |
OMIM:617183 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the ma... |
OMIM:608328 |
Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Broad nasal tip, Wide anterior font... |
ORPHA:488437 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Recurrent fract... |
OMIM:309583 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Epicanthus, Telecanthus, Depressed nasal bridge, Long nose, Optic atrophy, Right bund... |
OMIM:618590 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Hypopla... |
ORPHA:93296 |
Graft Versus Host Disease |
|
Dupuytren contracture, Fasciitis, Myositis, Acute hepatitis, Limited elbow movement, Maculopapula... |
ORPHA:39812 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Malar flattening, Absent ext... |
OMIM:109120 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Ptosis, Pericarditis, Broad eyebrow, Depressed nasal bridge, Tapered finge... |
OMIM:601088 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Epicanthus, Hyperextensibility of the... |
OMIM:130000 |
Marshall-Smith Syndrome |
|
Large sternal ossification centers, Synophrys, Distal widening of metacarpals, Coxa vara, Choanal... |
OMIM:602535 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Joint hypermobility, Prominent nasal bridge, Joint stiffness, Long nose, Tracheobronchomalacia, S... |
OMIM:619184 |
Hennekam-Beemer Syndrome |
|
Wide nose, Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Micrognathia, Mastocyt... |
ORPHA:2135 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Bulbous nose, Cone-shaped epiphysis, Short foot, Short long b... |
OMIM:102370 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Unilateral ptosis, Tachycardia, Epicanthus, Thick eyebrow, Tapered finger, Bulbous... |
ORPHA:485405 |
Opsismodysplasia |
|
Short metacarpal, Anteverted nares, Depressed nasal bridge, Squared iliac bones, Hypoplastic pubi... |
OMIM:258480 |
Achondroplasia |
|
Short nasal bridge, Anteverted nares, Depressed nasal bridge, Hip joint hypermobility, Bowing of ... |
ORPHA:15 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... |
OMIM:610984 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Disseminated viral... |
ORPHA:83597 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Portal hypertension, Joint stiffness,... |
ORPHA:465508 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Periodontitis, Decreased skull ossif... |
ORPHA:955 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... |
ORPHA:1473 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Subreti... |
ORPHA:357074 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Chorioretinal coloboma, Sparse eyebrow, Supernumerary tooth, ... |
OMIM:234100 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Absent eyebrow, Abnormal dental enamel morphology, Tarsal synostosis,... |
ORPHA:85199 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture, Arthritis, F... |
OMIM:617591 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Absent eyelashes, Flexion contracture, Large fontanelles, Osteolysis... |
ORPHA:90153 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Retinal detachment, Recurrent joint dislocation, Recurrent skin infections, Cr... |
ORPHA:2953 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Wide anterior fontanel, Shortening of all phalanges of fingers, Shortening of all ... |
OMIM:601356 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot |
ORPHA:1381 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognat... |
ORPHA:94068 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i... |
OMIM:300635 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Epicanthus, Depressed nasal bridge, Decreased circulating antibody level, Agammaglobulinemia, Pol... |
OMIM:616910 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Epicanthus, Anteverted nares, Highly arched eyebrow, Joint stiffness, Abnormal... |
ORPHA:324313 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Wide cranial sutures, Protrusio acetabuli, Femoral retroversion,... |
OMIM:610682 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Synophrys, Upslanted palpebral fissure, Short nose, Joint hypermobility |
OMIM:300143 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,... |
ORPHA:1652 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Highly arched eyebrow, Bilateral ptosis, Synophrys, 2-3 toe syndact... |
OMIM:614701 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Ca... |
ORPHA:93325 |
Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
Intellectual Disability-Strabismus Syndrome |
|
Epicanthus, Telecanthus, Depressed nasal bridge, Rocker bottom foot, Highly arched eyebrow, Micro... |
ORPHA:363528 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Mitral regu... |
OMIM:277600 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Mandibuloacral Dysplasia |
|
Narrow nose, Micrognathia, Hypoplasia of teeth, Contractures of the large joints, Osteolytic defe... |
ORPHA:2457 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphal... |
OMIM:613870 |
Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Pericarditis, Depressed nasal bridge, Rocker bottom foot, Craniosynostos... |
ORPHA:1272 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Anteverted nares, Pneumonia, Depressed nasal bridge, Micrognathia, Bronchi... |
OMIM:242860 |
Rift Valley Fever |
|
Skin rash, Hematemesis, Severe viral infection, Retinal hemorrhage, Hepatitis, Uveitis, Melena, I... |
ORPHA:319251 |
Trisomy 20P |
|
Finger syndactyly, Epicanthus, Anteverted nares, Camptodactyly of finger, Highly arched eyebrow, ... |
ORPHA:261318 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin... |
ORPHA:1855 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Parietal Foramina 1 |
|
Wormian bones |
OMIM:168500 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Wide nose, Hypoplasia of the maxilla, Abnormal eyelash morpholog... |
ORPHA:2399 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal... |
OMIM:156400 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Upslanted palpebral fissure, Short nose, Anteverted nares, Metopic synostosis |
OMIM:613735 |
3C Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Micrognathia, Optic atrophy, Wide nasal bridge, Abnorm... |
ORPHA:7 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Epicanthus, Depressed nasal bridge, Bulbous nose, Wide nasal b... |
ORPHA:369891 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Peripheral retinal avascularization, Micrognathia, Hypoplasia of the maxil... |
ORPHA:96334 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Immunodeficiency 66 |
|
Pustule, Meningitis, Recurrent skin infections |
OMIM:618847 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Anteverted nares, Prominent nasal bridge, De... |
OMIM:607812 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Micrognathia, Joint hyperflexibil... |
ORPHA:2789 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage |
OMIM:616414 |
Desmosterolosis |
|
Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Generalized osteosclerosis,... |
OMIM:602398 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Alg9-Cdg |
|
Microretrognathia, Prominent metopic ridge, Tricuspid regurgitation, Telecanthus, Depressed nasal... |
ORPHA:79328 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Flexion c... |
OMIM:300534 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ptosis, Epicanthus, Sandal gap, Depressed nasal bridge, Tapered finger, Micrognathia, Synophrys, ... |
OMIM:617061 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin... |
ORPHA:727 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Patellar hypoplasia, Knee flexion co... |
ORPHA:477 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Delayed closure of the anterior fontanelle, Postaxial polydactyly, Micro... |
OMIM:618460 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach |
OMIM:114500 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micrognathia, Metaphyseal widening, Limitation of joi... |
OMIM:224400 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Prominent U wave, Abnormal ... |
ORPHA:37553 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Telecanthus, Anteverted nares, Sparse eyebrow, Upslanted palpebral fis... |
ORPHA:884 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Flexion contracture, Ankylobl... |
OMIM:263650 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Epicanthus, Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5... |
ORPHA:391408 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Avascular necrosis of the capital femoral epiphysis, Malar flattening, Cervical subluxation, Arth... |
OMIM:184100 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Optic atrophy, Joint contracture, Short nose |
OMIM:615419 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Joint hypermobility, Prominent n... |
ORPHA:357058 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Autoimmunity, Abnormal heart valve morphology, Pericardial effusion, Men... |
ORPHA:36412 |
Atelosteogenesis Type I |
|
Joint dislocation, Telecanthus, Short femur, Micrognathia, Abnormal ossification involving the fe... |
ORPHA:1190 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis |
ORPHA:47045 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Ptosis, Anteverted nares, Hypo... |
OMIM:305400 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Upsl... |
ORPHA:79113 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Abnormality of neutr... |
ORPHA:235 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... |
OMIM:222448 |
Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlar... |
ORPHA:75249 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating... |
OMIM:619510 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Clinodactyly of the 5th finger... |
OMIM:115150 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Recurrent bacterial infections, Chronic ora... |
OMIM:308230 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Carious teeth, Splenomegaly,... |
ORPHA:93 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... |
ORPHA:54251 |
Spondylosis, Cervical |
|
Osteoarthritis, Spina bifida occulta |
OMIM:184300 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Wide nose, Hypoplasia of the maxilla, Optic atrophy, Clinodactyly, Short distal phalanx o... |
OMIM:614261 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Cardiomyopathy, Retinal degeneration, Abnormal renal physiology |
OMIM:266500 |
Silver-Russell Syndrome 1 |
|
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger,... |
OMIM:180860 |
Facial Paresis, Hereditary Congenital, 3 |
|
Unilateral ptosis, Epicanthus, Anteverted nares, Depressed nasal bridge, Lagophthalmos, Micrognat... |
OMIM:614744 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Osteoarthritis |
ORPHA:66630 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome |
OMIM:269920 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac... |
OMIM:607765 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Skin rash, Meningitis, Infectious encephalitis |
OMIM:603553 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Hemochromatosis, Type 4 |
|
Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia |
OMIM:606069 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Aplasia/Hypoplasia of the... |
OMIM:613803 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Laron Syndrome |
|
Abnormal joint morphology, Short long bone |
OMIM:262500 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia |
OMIM:613313 |
Tularemia |
|
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Conjunctivitis, O... |
ORPHA:3392 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Epicanthus, Anteverted nares, Short nose |
ORPHA:531 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Epicanthus, Promi... |
ORPHA:1225 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Bowing of the legs, Metaphyseal widening, Squared iliac... |
OMIM:608728 |
Prolidase Deficiency |
|
Depressed nasal bridge, Eczema, Micrognathia, Thrombocytopenia, Splenomegaly, Recurrent pneumonia... |
OMIM:170100 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Primary tes... |
ORPHA:85450 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Epicanthus, Anteverted nares, Depressed nasal bridge, Mi... |
ORPHA:171929 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Meningitis, Infectious encephalitis |
OMIM:267700 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Polyar... |
OMIM:142680 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Toe syndactyly, Anteverted nares, Depressed nasal brid... |
ORPHA:819 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Clinodactyly, Flexion contracture, Depressed nasal bridge, Tapered finger, Short pa... |
OMIM:309590 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Overlapping toe, Sparse eyelashes, Anteverted nares, Micrognathia, Carious teeth, Sparse eyebrow,... |
OMIM:613026 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Pustule, Arrhythmia, Infectiou... |
ORPHA:68 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Telecanthus, Micrognathia, Sclerosis of skull base, Wormian bones, Malar flatte... |
OMIM:130720 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Congenital contracture, Optic atrophy, Short nose, Micrognathia |
OMIM:615042 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, Abnormally os... |
ORPHA:800 |
Alexander Disease |
|
Hypotension, Hypertension, Infectious encephalitis, Sudden cardiac death |
ORPHA:58 |
Down Syndrome |
|
Joint laxity, Epicanthus, Sandal gap, Depressed nasal bridge, Depressed nasal ridge, Abnormality ... |
ORPHA:870 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Ante... |
OMIM:180700 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Long fingers, ... |
OMIM:608149 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Highly arched eyebrow, Bifid nasal tip, Synophrys, Depressed nasal ridge, A... |
OMIM:616854 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud phenomenon, Crusting ery... |
ORPHA:324625 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose, Wide nasal bridge, Short ... |
OMIM:620292 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Anteverted nares, Highly arched eyebrow, Duplication of phalanx of hallux, Wide nasal... |
OMIM:243310 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh... |
ORPHA:183 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Anteverted nares, Depressed nasal bridge, Sparse ... |
OMIM:252500 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Partial duplication of thu... |
OMIM:616331 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the knee, Abnormality of the temporomandibular joint, Psoriasif... |
ORPHA:85436 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Frontofacionasal Dysplasia |
|
Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Short no... |
ORPHA:1791 |
Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Mandibular prognathia, Telecanthus, Depressed nasal bridge, Cra... |
ORPHA:1299 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618987 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Micrognathia, Optic atrophy, Dental malocclusion, Contractures of the large joints, S... |
ORPHA:329178 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal dysplasia, Pneumonia, Narrow nose, Short iliac bones, Metaphyseal sclerosis, Raynaud ... |
OMIM:607944 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Splenomegaly, Anemia |
OMIM:618107 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Curry-Jones Syndrome |
|
Bicoronal synostosis, Wormian bones, Duplication of thumb phalanx, Blepharophimosis, Preaxial han... |
OMIM:601707 |
Acrocephalopolydactylous Dysplasia |
|
Epicanthus, Craniosynostosis, Postaxial hand polydactyly, Upslanted palpebral fissure, Polyspleni... |
OMIM:200995 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Anteverted nares, Broad femoral neck, Micrognathia, Thrombocytopenia, Squared iliac b... |
OMIM:611209 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Broad nasal tip, Small hand, Spina bifida o... |
ORPHA:488434 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Splenomegaly, Cleft palate, Reduced bone mineral density, Leukopenia, Lymphopenia |
OMIM:620210 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Short metacarpal, Radial bowing,... |
OMIM:108720 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Sagitta... |
OMIM:609942 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Narrow nasal bridge, Arachnodactyly, Promi... |
OMIM:309520 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphoma, Systemic lupus eryth... |
ORPHA:90036 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Epicanthus, Depressed nasal bridge, Micrognathia, Optic atrophy, Wide na... |
OMIM:613457 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Optic nerve hypoplasia, Upslanted palpebral fissure, Short nose... |
ORPHA:228384 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... |
OMIM:304790 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion contracture, Hypoplastic iliac w... |
OMIM:180849 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Recurrent fractures |
OMIM:616833 |
D-Bifunctional Protein Deficiency |
|
Osteopenia, Epicanthus, Depressed nasal bridge, Micrognathia, Splenomegaly, Split hand, Large fon... |
OMIM:261515 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Abnormal eyelash morphology, Postaxial hand polydactyly, Synophrys,... |
ORPHA:1702 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Epicanthus, Anteverted nares, Optic neuropathy, Broad is... |
OMIM:619727 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Increased bone mineral density, Delayed closure of the anterior fontanelle, Retinal ... |
OMIM:127000 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Optic atrophy, Upslanted palpebral f... |
ORPHA:496790 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Hip dislocation, Large font... |
OMIM:219150 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge |
OMIM:200130 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Choanal atresia,... |
OMIM:617746 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,... |
OMIM:619356 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa... |
OMIM:257200 |
Leukodystrophy, Hypomyelinating, 10 |
|
Arachnodactyly, Anteverted nares, Bulbous nose, Prominent eyelashes, Upslanted palpebral fissure,... |
OMIM:616420 |
Fetal Valproate Spectrum Disorder |
|
Epicanthus, Depressed nasal ridge, Short nose |
ORPHA:1906 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Highly arched eyebrow, Multiple prenatal fractures, Bulbous nose, Wormian ... |
OMIM:618644 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa... |
OMIM:272460 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Proximal placement of thumb, Micrognathia, Limited elbow movement, Synophrys, Clin... |
OMIM:610759 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Limitation o... |
ORPHA:169802 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Joint contracture of the 5th finger, Clinodactyly of the 5th finger, Promi... |
ORPHA:363611 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun... |
ORPHA:1333 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hypoplasia of the maxilla, Absent eyelashes, Lacrimal duct atresia, 2-3 toe syn... |
OMIM:106260 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy |
ORPHA:2221 |
Warburg Micro Syndrome 3 |
|
Micrognathia, Blepharophimosis, Flexion contracture, Optic atrophy, Ankle clonus, Clinodactyly of... |
OMIM:614222 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Cartilage destruc... |
ORPHA:169805 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Large posterior fontanelle, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic ... |
OMIM:250220 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tri... |
OMIM:616367 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Depressed nasal bridge, Micrognathia, Synophrys, Short nose, Ptosis |
ORPHA:1913 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Upslanted palpebral fissure, Clinod... |
OMIM:613443 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... |
ORPHA:83471 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Tricuspid regurgitation, Sandal gap, Delayed cranial suture closure, Elevated hemoglo... |
OMIM:619127 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Recurrent pharyngitis, Endocarditis, Arthritis, ... |
ORPHA:3099 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure |
ORPHA:93950 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
Peho Syndrome |
|
Epicanthus, Tapered finger, Optic atrophy, Short nose, Retrognathia |
OMIM:260565 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal... |
ORPHA:379 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Thick nasal a... |
OMIM:303600 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level |
ORPHA:411593 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Epicanthus, Congenital hip dislocation, Delayed closure of... |
ORPHA:2962 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Blepharophimosis, Short nose, Downslanted palpebral fissures, Sh... |
OMIM:611936 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis, Short stature |
ORPHA:847 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Ptosis, Anteverted nares, Depressed nasal bridge, Highly arched eyebro... |
OMIM:615866 |
Castleman Disease |
|
Myelofibrosis, Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lym... |
ORPHA:160 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Micrognathia, Abnormal eyelid morphology, Hypoplasia of the thymus, Chr... |
ORPHA:567 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption... |
OMIM:614753 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, Antever... |
OMIM:211380 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Antiphospholipid antibody positivity, Cardiac shunt, Autoimmunity, Pulmonary embol... |
ORPHA:70591 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va... |
OMIM:309350 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Synophrys, Tracheobronchomalacia, Anteverted nares, De... |
OMIM:613458 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia |
OMIM:615085 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the maxilla, Elbow disloc... |
ORPHA:2554 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Raynaud phenomenon, Arthritis, Finger swelling, Hype... |
ORPHA:206572 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Azoospermi... |
OMIM:235200 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Synophrys, Wide nasal bridge, Hypoplasia of teeth, Upslanted palpeb... |
OMIM:620250 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, M... |
OMIM:227330 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... |
ORPHA:158057 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Ptosis, Epicanthus, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Hypopla... |
ORPHA:306542 |
Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl... |
ORPHA:264450 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Tapered finger, Flat acetabular roof, Upslanted palpebral fissure, Fused cervical ver... |
OMIM:617159 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Joint hyperflexibility, Polydactyly, Downslanted palpebral... |
ORPHA:77301 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Depressed nasal brid... |
OMIM:620005 |
Lesch-Nyhan Syndrome |
|
Anemia, Gout |
ORPHA:510 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, Upslanted palpebral fissure, Prominent fingertip pads, ... |
OMIM:300558 |
Desmosterolosis |
|
Increased bone mineral density, Epicanthus, Depressed nasal bridge, Micrognathia, Metatarsus addu... |
ORPHA:35107 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Proximal placement ... |
OMIM:620370 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Hip dislocation, Short nose, Hepatosplenomegaly |
OMIM:608776 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Epicanthus,... |
OMIM:278250 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... |
OMIM:618892 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Short nos... |
OMIM:618774 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, A... |
ORPHA:3260 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Epicanthus, Broad hallux, Anteverted nares, Depressed nasal bridge, Retinal pigment epithelial mo... |
OMIM:614105 |
Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Anteverted nares, Short nose |
OMIM:103050 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Anteverted nares, Micrognathia, Broad nasal tip, Wide nasal bridge, Lon... |
OMIM:618529 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Choanal stenosis, Abnormality of the wrist, Elbow ankylosis,... |
ORPHA:95699 |
Immunodeficiency 68 |
|
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... |
OMIM:612260 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Upslanted palpebral fissure, Narrow palpebral fissure, Clinoda... |
OMIM:618087 |
Japanese Encephalitis |
|
Meningitis, Infectious encephalitis |
ORPHA:79139 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... |
OMIM:200600 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Malabsorption, Cryptorchidism, Leukocytosis, Acu... |
ORPHA:99812 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Morbil... |
ORPHA:228123 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Meningitis, Recurrent pneumonia, Vasculitis, Recurren... |
OMIM:617718 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Depressed nasal bridge, Small abnor... |
ORPHA:140 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Chorioretinal coloboma, Short nose, Retrognathia |
ORPHA:163961 |
Zttk Syndrome |
|
Aortic regurgitation, Broad eyebrow, Epicanthus, Depressed nasal bridge, Craniosynostosis, Hypopl... |
OMIM:617140 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly... |
ORPHA:2137 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Short tibia, Disloc... |
OMIM:605274 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Portal hypertension, Raynaud phenomenon, Leukocytosis, Dilated... |
OMIM:615688 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Epicanthus, Congenital hip dislocation, Telecanthus, Anteverted nares, Depress... |
OMIM:244450 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... |
ORPHA:1332 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... |
ORPHA:2686 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Synophrys, Short palm, Clinodactyly of the 5th finger, F... |
ORPHA:251014 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Sandal gap, Highly arched eyebrow, Pulmonary arterial hypertension, Short nose |
OMIM:300887 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Autoimmunity, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:169090 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Proximal placement of thumb, Microgna... |
OMIM:610536 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Splenomegaly, Vasculitis, Arthritis, Keratoconjunct... |
ORPHA:91138 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Splenomegaly, Optic atrophy, Sea-blue histiocytosis, Thin bony cortex |
OMIM:230600 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Telecanthus, Prominent nasal bridge, Highly arched eyebrow, Tapered finger,... |
OMIM:609460 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... |
ORPHA:183675 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Underdeveloped nasal alae, Sy... |
ORPHA:894 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Os... |
OMIM:611490 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Depressed nasal bridge, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic... |
OMIM:151210 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Postaxial polydactyly, Prominent nose, Sparse eyebrow, Squared il... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Micrognathia, Short metatarsal, Macular degeneration, Clinodactyly of th... |
OMIM:266920 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Papilledema, Depressed nasal bridge, Sclerotic scapulae, 2-3 f... |
OMIM:269500 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Synophrys, Bulbous nose, Pulmonic stenosis, Chorioretina... |
ORPHA:284169 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Gout, Neutropenia |
OMIM:617056 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contracture, Hypopl... |
ORPHA:1865 |
Frontorhiny |
|
Ptosis, Epicanthus, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinus... |
ORPHA:391474 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... |
OMIM:614034 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Upslanted ... |
OMIM:615716 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Upslanted palpebral fissur... |
OMIM:618437 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... |
OMIM:613011 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar... |
OMIM:614204 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Congenital pyloric atresia, Reduced bone mineral density |
ORPHA:2617 |
White-Sutton Syndrome |
|
Mandibular prognathia, Joint laxity, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia... |
OMIM:616364 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanelles, Depressed ... |
ORPHA:2211 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormi... |
OMIM:617821 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Osteoporosis, Gout, Hypertension, Inflammation of the large intestine, Xanthelasma,... |
OMIM:232220 |
Extracranial Carotid Artery Aneurysm |
|
Autoimmunity, Subarachnoid hemorrhage, Severe infection, Vasculitis, Hypertension, Cerebral ische... |
ORPHA:494424 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibril... |
ORPHA:284984 |
Thyroid Lymphoma |
|
Goiter, Dysphagia, Lymphadenopathy |
ORPHA:97285 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Abnormal trabecular bone morphology, Femur fracture, Splenomegal... |
OMIM:612301 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Anteverte... |
ORPHA:3107 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
Cardiofaciocutaneous Syndrome |
|
Epicanthus, Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Abnormal eyela... |
ORPHA:1340 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Overlapping toe, Anteverted nares, Highly arched eyebrow, Prominent nose, Depressed nas... |
OMIM:618316 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... |
OMIM:278000 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, S... |
OMIM:122880 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Pathologic... |
ORPHA:905 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal femoral epiphyseal ossification, Ly... |
ORPHA:353298 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Micrognathia, Osteoarthritis, Reduced bone mineral density, Intracranial h... |
ORPHA:740 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Abnormal eyelid morphology,... |
OMIM:300855 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Vasculitis, Limitation... |
ORPHA:343 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Micrognathia,... |
OMIM:620369 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Entropion, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdevelope... |
OMIM:616835 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi... |
ORPHA:85410 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Chronic otitis media, Clinodactyly of the 5th finger, Synostosis of carpal bones, F... |
ORPHA:1507 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Abnormal digit morphology, Syndactyly, Finger syndactyly, Abnormal dental enamel mo... |
ORPHA:2363 |
Pterygium Colli, Isolated |
|
Epicanthus, Short nose |
OMIM:177990 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... |
ORPHA:81 |
Treacher-Collins Syndrome |
|
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Abse... |
ORPHA:861 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Depressed n... |
ORPHA:163966 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis, Hypochromic microcytic anemia |
OMIM:619423 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Ptosis, Joint stiffness, Hypopla... |
ORPHA:2588 |
Trisomy 12P |
|
Epicanthus, Micrognathia, Wide nasal bridge, Clinodactyly of the 5th finger, Malar flattening, Sh... |
ORPHA:1699 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Infla... |
ORPHA:98813 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridge, Bradycardia, Ca... |
OMIM:610015 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Gout, Hypertension, Xanthelasma, Pancreatitis, Lipemia retinalis |
OMIM:232200 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Autoinflammation With Infantile Enterocolitis |
|
Skin rash, Short stature, Diffuse alveolar hemorrhage, Enterocolitis, Meningitis |
OMIM:616050 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Short metatarsal, Prominent interphalangeal joints, Sparse medial eyebrow, Short... |
OMIM:601358 |
Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf... |
ORPHA:90291 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Raynaud phenomenon, Arthritis, Leukopenia, ... |
ORPHA:93552 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micrognathia, Wide nasal bridge, Short long bone, Malar flattening, Pte... |
OMIM:224410 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Joint stiffness, Micrognathia, Short nose, Ptosis |
ORPHA:1915 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Epicanthus, Overlapping toe, Bulbous nose, Wide nasal bridge, Narrow palpebral... |
OMIM:618571 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dyspl... |
ORPHA:544503 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat... |
OMIM:114290 |
Immunodeficiency 46 |
|
Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis |
OMIM:616740 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G... |
ORPHA:33276 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Men... |
ORPHA:37042 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Slender long bone |
OMIM:613804 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Up... |
OMIM:617822 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Peho Syndrome |
|
Epicanthus, Palpebral edema, Anteverted nares, Tapered finger, Flexion contracture, Limitation of... |
ORPHA:2836 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... |
ORPHA:2357 |
Rhyns Syndrome |
|
Osteopenia, Ptosis, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Rod-cone dy... |
OMIM:602152 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Ptosis, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, C... |
OMIM:182250 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Abnormal bone ossification, Clinodactyly of the 5th fi... |
ORPHA:79324 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Epicanthus, Anteverted nares, Micrognathia, Wide nasal bridge, Upslant... |
OMIM:247200 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Vertebral fusion, Short... |
OMIM:139210 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Depressed nasal ridge, Reticulocytopenia, Triphalangeal thumb, Neutropenia, Spina b... |
OMIM:105650 |
Lathosterolosis |
|
Epicanthus, Toe syndactyly, Anteverted nares, Increased mean platelet volume, Micrognathia, Acant... |
OMIM:607330 |
Loeys-Dietz Syndrome 5 |
|
Arachnodactyly, Prominent nasal bridge, Eosinophilic infiltration of the esophagus, Osteoarthriti... |
OMIM:615582 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Prominent nasal bridge |
OMIM:300676 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Epistaxis, Chronic neutropenia, Carious teeth, Osteoporosis, Enterocolitis, Gout, Inc... |
ORPHA:79259 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Sandal gap, Highly arched eyebrow, Micrognathia, Prominent nose, Bulbous n... |
OMIM:156200 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Carious teeth, Small hand, Hypoplasia of the zygomatic bone... |
ORPHA:1786 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Joint dislocation, Joint laxity, Tricuspid regurgitation, Arachnodactyly, Recu... |
OMIM:601776 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Osteoarthritis, Subdural hemorrhage, Wide nasal bridge, Short palpebral fi... |
OMIM:619714 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Metatarsus adductus, Hypoplasia of the maxilla, Recurrent upper respi... |
ORPHA:293939 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, High palate, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619750 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Joint stiffness, Vasculitis, Joint swelling, Polyartic... |
OMIM:180300 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Fatiga... |
ORPHA:42 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Trisomy 18 |
|
Microretrognathia, Abnormality of retinal pigmentation, Epicanthus, Camptodactyly of finger, Choa... |
ORPHA:3380 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Hypopigmentation of the fundus, Microretro... |
OMIM:200990 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
Nephroblastoma |
|
Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Recurrent pharyngitis, Vasculitis... |
ORPHA:397 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Tetrasomy 18P |
|
Epicanthus, Syncope, Downslanted palpebral fissures, Short nose |
ORPHA:3307 |
Cysticercosis |
|
Abnormal myocardium morphology, Iridocyclitis, Infectious encephalitis |
ORPHA:1560 |
Toluene Embryopathy |
|
Epicanthus, Micrognathia, Tapered finger, Hypoplasia of the zygomatic bone, Short nose, Short pal... |
ORPHA:1920 |
Wiedemann-Steiner Syndrome |
|
Hyperextensibility at elbow, Epicanthus, Telecanthus, Thick eyebrow, Tapered finger, Synophrys, A... |
ORPHA:319182 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage |
OMIM:306700 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Anteverted nares, Optic atrophy, Hypoplasia of teeth, Keratoconjunc... |
OMIM:234050 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Elbow contracture, Micrognathia, Bulbo... |
OMIM:615656 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Narrow nose, Carious teeth, Long nose,... |
OMIM:617602 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea |
OMIM:235555 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Abnormal eyeli... |
ORPHA:1812 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Otitis media, Shallow orbits, Telangiect... |
ORPHA:576 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Iliac crest serrati... |
ORPHA:239 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... |
OMIM:618394 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Absent lacrimal punctum, Sparse eyelashes, Depressed nasal bridge, Underdeveloped nas... |
OMIM:129400 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B... |
OMIM:619381 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Short nose |
ORPHA:1389 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Limitation of joint mobility, Coxa vara, Irregular epiphyses, Short femor... |
OMIM:313400 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Telangiectasia of the skin, Recurrent fractures, Abnormality of neut... |
ORPHA:1775 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Epicanthus, Paranasal sinus hypoplasia, Arachnodactyly, Delayed closure of the anter... |
OMIM:300373 |
19P13.13 Microdeletion Syndrome |
|
Epicanthus, Sandal gap, Optic nerve hypoplasia, Anteverted nares, Depressed nasal bridge, Long fi... |
ORPHA:357001 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Epicanthus, Tapered finger, Intraventricular hemorrhage... |
OMIM:613603 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ... |
ORPHA:97289 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose |
OMIM:612563 |
Xylt1-Cdg |
|
Joint dislocation, Joint laxity, Acne, Coxa valga, Synophrys, Flared metaphysis, Short long bone,... |
ORPHA:370930 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ptosis, Anteverted nares, Tracheomalacia, Micrognathia, Highly arched eyebrow, Congestive heart f... |
ORPHA:444077 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Al-Raqad Syndrome |
|
Joint laxity, Short nose, Sandal gap, Brachydactyly |
OMIM:616459 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Gaucher Disease |
|
Joint dislocation, Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur... |
ORPHA:355 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Prominent nasal bridge, Proximal placement of thumb, Micrognath... |
ORPHA:251071 |
Jacobsen Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal... |
OMIM:147791 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Wide anterior fontanel, Contracture of the proximal interphalangeal j... |
ORPHA:457279 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate, Craniosynostosis |
ORPHA:314575 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose |
ORPHA:93945 |
Generalized Pustular Psoriasis |
|
Pustule, Congestive heart failure, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pust... |
ORPHA:247353 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Choanal stenosis, Shallow orbits, Myeloid leukemia, Wide anterior fo... |
ORPHA:798 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, Abnormal finger morphology, Aplasia of... |
ORPHA:3472 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Xanthelasma, Stomato... |
OMIM:210250 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Dermotrichic Syndrome |
|
Blepharophimosis, Short nose, Depressed nasal bridge, Anemia |
ORPHA:99688 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Recurrent bacterial meningitis, Recurrent pneumonia, Recurrent fungal infec... |
OMIM:300400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Increased size of nasopharyngeal adenoids, Papilledema, Abnormal foveal morp... |
ORPHA:217085 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Large posterior fontanelle, Depressed nasal bridge, Postaxial polydactyly, Micrognat... |
OMIM:617925 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurren... |
ORPHA:565 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Unilateral ptosis, Epicanthus, Anteverted nares, Prominent nasal bridge, H... |
ORPHA:1449 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Pulmonary Arteriovenous Malformation |
|
Brain abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Heart murmur, Telangi... |
ORPHA:2038 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacr... |
OMIM:106300 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Abnormality of T cell physiology, Optic neuropathy, Iridocyclitis, Splenomegaly, Bo... |
OMIM:181000 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leuko... |
OMIM:260920 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... |
ORPHA:2538 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:90674 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Arthritis, Recurrent skin infections |
ORPHA:36397 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Epicanthus, Tricuspid regurgitation, Telecanthus, Anteverted nares, Depressed nasal b... |
OMIM:616894 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly |
ORPHA:2414 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Arthritis |
OMIM:619825 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Increased size of nasopharyngeal adenoids, Papilledema, Abnormal foveal morp... |
ORPHA:217093 |
Melioidosis |
|
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of ... |
ORPHA:31202 |
Toriello-Carey Syndrome |
|
Telecanthus, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Short nose, Cardiomyopathy, Pu... |
ORPHA:3338 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Epicanthus, Sandal gap, Depressed nasal bridge, Tapered finger, Bulbous nose, Clinodactyly of the... |
OMIM:618430 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Wide nose, Abnormal foveal morphology, Splenome... |
ORPHA:580 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Micrognathia, Sy... |
ORPHA:476126 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Synovi... |
OMIM:186580 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Cartilage destructio... |
ORPHA:29207 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Ptosis, Short metacarpal, Epicanthus, Anteverted nares, Eczema, Depressed nasal bridge, Broad nas... |
OMIM:617157 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Chops Syndrome |
|
Anteverted nares, Splenomegaly, Synophrys, Optic atrophy, Long eyelashes, Aspiration pneumonia, T... |
OMIM:616368 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone... |
OMIM:259050 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Joint laxity, Anteverted nares, Depressed nasal bridge, Highly arched ey... |
OMIM:619325 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... |
ORPHA:93672 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Epicanthus, Congenital hip dislocation, Delayed closure of... |
ORPHA:2834 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Prominent nose, Synophrys, Leukopenia, Iron deficiency anemia, Syndacty... |
OMIM:619488 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Decreased circulating IgG level, Arachnodactyly, Depressed nasal bridg... |
ORPHA:500150 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Telecanthus, Depressed nasal bridge, Wide nasal bridge |
ORPHA:782 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Limitat... |
ORPHA:93315 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Meningitis, Recurrent sinusitis |
OMIM:619707 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... |
ORPHA:39041 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone |
OMIM:618845 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... |
OMIM:239850 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Micrognathia, Joint laxity, Syndactyly, Depressed nasal bridge, S... |
OMIM:613610 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Splenomegaly, Abnormally ossified vertebrae, Intestinal malrotation |
ORPHA:3035 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Retinal detachment, Prominent metopic ridge, Tapered finger, Long fingers,... |
ORPHA:521445 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Promin... |
OMIM:618454 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Epicanthus, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, H... |
ORPHA:285 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Depressed nasal bridge, Gout, Short nose, Downslanted palpebral fissures, Convex nasa... |
OMIM:300661 |
Jacobsen Syndrome |
|
Eyelid coloboma, Broad columella, Long hallux, Broad hallux phalanx, Finger syndactyly, Anteverte... |
ORPHA:2308 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
Helsmoortel-Van Der Aa Syndrome |
|
Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Clinodactyly of the 5th finger, Promi... |
OMIM:615873 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Chorioretinal dysplasia, Micrognathia, Periodontitis, Chronic otitis media... |
ORPHA:534 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Recurrent pneumonia, Telangi... |
ORPHA:420741 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Epicanthus, Depressed nasal bridge, Splenomegaly, Decreased circulating antibody le... |
OMIM:605309 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, Clinodact... |
OMIM:618332 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis |
OMIM:232800 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine... |
ORPHA:391428 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, Congestive ... |
ORPHA:90033 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis, Optic disc coloboma, Choanal atresia |
ORPHA:92050 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Joint laxity, Aortic regurgitation, Tricuspid regurgitation, Overlapping t... |
OMIM:617402 |
7Q31 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Clinodactyl... |
ORPHA:251061 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Carey-Fineman-Ziter Syndrome |
|
Brachydactyly, Epicanthus, Anteverted nares, Micrognathia, Ulnar deviation of finger, Short nose,... |
ORPHA:1358 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... |
ORPHA:70593 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Highly arched eyebrow, Advanced eruption of teeth, Short nose, Broad colu... |
OMIM:617865 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... |
ORPHA:158061 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Ganglioneuroblastoma, Recurrent upper respiratory tract infections, Delayed pubert... |
ORPHA:293987 |
Shigellosis |
|
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... |
ORPHA:810 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Astigmatism, Left ventricular hyp... |
OMIM:617713 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Anteverted nares, Decreased heart rate variability, Highly ar... |
OMIM:619005 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hematochez... |
OMIM:615895 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
Silver-Russell Syndrome |
|
Sandal gap, Micrognathia, Abnormal appendicular skeleton morphology, Abnormality of the calcaneus... |
ORPHA:813 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Anteverted nares, Joint stiffness, Micrognathia, Optic atrop... |
ORPHA:2510 |
H Syndrome |
|
Microcytic anemia, Malabsorption, Osteolysis, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, H... |
ORPHA:168569 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Blepharophimosis, Underdeveloped nasal alae, Chorioretinal coloboma, Clinodacty... |
ORPHA:2031 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Epicanthus, Optic nerve hypoplasia, Prominent nasal bridge, Micrognathia, Broa... |
OMIM:300749 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly |
ORPHA:210548 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Telecanthus, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge,... |
ORPHA:1974 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rickets, Sta... |
OMIM:268315 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Aplasia of the ulna, Micrognathia, Abnormal tibia morpho... |
ORPHA:2879 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... |
ORPHA:227990 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Syndactyly, Tricuspid regurgitation, Depressed nasal bridge, Short palpebr... |
OMIM:612289 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Lymphadenopathy |
ORPHA:2483 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoax... |
OMIM:146510 |
Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Hepatit... |
ORPHA:2331 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Retinal detachment, Overlapping toe, Arachnodactyly, Femur fracture, Long f... |
OMIM:605822 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, 1-2 toe syndactyly, Broad hallux, Highly arched eyebrow, Tapered finger, Antev... |
OMIM:301044 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Orthostatic hypotension, Epicanthus, Phal... |
ORPHA:287 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Ectropion, Sparse eyelashes, Antev... |
OMIM:209885 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Tapered finger, Underdeveloped nasal alae, Synophrys, Bulbous nose, Wide n... |
OMIM:615803 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Tracheomalacia, Highly arched... |
ORPHA:261494 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Hypoplastic scapulae, Pericarditis, Abnormal dental enamel morpholog... |
ORPHA:3310 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Gen... |
OMIM:615630 |
Monosomy 9P |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... |
ORPHA:261112 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash,... |
ORPHA:900 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Polydactyly, Compl... |
ORPHA:59315 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Telecanthus, Wide nasal bridge |
OMIM:601499 |
Cog1-Cdg |
|
Osteopenia, Micrognathia, Coxa valga, Wide nasal bridge, Flat acetabular roof, Hepatosplenomegaly... |
ORPHA:263508 |
Jaberi-Elahi Syndrome |
|
Sparse eyelashes, Depressed nasal bridge, Joint stiffness, Sparse eyebrow, Optic atrophy, Short n... |
OMIM:617988 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Abnormal size of the palpebral fissures, Camptoda... |
ORPHA:1101 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... |
OMIM:618048 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Optic atrophy, Micrognathia |
OMIM:256600 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... |
ORPHA:227982 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regur... |
ORPHA:505248 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Recurrent pneumonia, Prominent eyelashes, Wide nasal bridge, Upslanted pa... |
OMIM:619179 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fractu... |
OMIM:620366 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... |
ORPHA:822 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short mid... |
OMIM:136140 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi... |
ORPHA:728 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Congenital hip dislocation, Clinodactyly of the 5th f... |
ORPHA:373 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Finger clinodactyly, Shallow orbits, ... |
OMIM:601353 |
9q subtelomeric deletion syndrome |
|
Synophrys, Anteverted nares, Short nose |
DECIPHER:52 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Short iliac bo... |
ORPHA:3003 |
Peters-Plus Syndrome |
|
Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Limited elbow movement, Sho... |
OMIM:261540 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed ... |
ORPHA:920 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Abnormal cardiac ventricular function, Wide anterior fontanel, Congestive heart fai... |
ORPHA:90349 |
Papillorenal Syndrome |
|
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... |
OMIM:120330 |
Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Short nose, Polydactyly |
OMIM:613885 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdev... |
OMIM:300912 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Gout |
OMIM:618061 |
Frontofacionasal Dysplasia |
|
Telecanthus, Underdeveloped nasal alae, Short nose, Ankyloblepharon, Eyelid coloboma, Midline def... |
OMIM:229400 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... |
ORPHA:48435 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
16P13.11 Microdeletion Syndrome |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Metatarsus valgus, Short nose,... |
ORPHA:261236 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Micrognathia, Congestive heart failure, Splenomegaly, Upslanted palpebral fissure, Ove... |
OMIM:608779 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Epicanthus, Anteverted nares, Depressed nasal bridge, Coxa valga, Tapered ... |
OMIM:301040 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Synophrys, Long toe, Anteverted nares, Lagophthalmos, 2-3 toe ... |
ORPHA:3455 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... |
ORPHA:51636 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Epicanthus, Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Upslanted palpebra... |
OMIM:257300 |
Blau Syndrome |
|
Large vessel vasculitis, Posterior uveitis, Abnormal optic nerve morphology, Retrobulbar optic ne... |
ORPHA:90340 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Chorioretinitis, Ir... |
OMIM:109650 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen... |
OMIM:610199 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Cone/cone-rod dystrophy, Short metacarpal, Bowing of the long bones, Retinal atr... |
ORPHA:85167 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... |
ORPHA:33226 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepatocellular adeno... |
ORPHA:264580 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiv... |
ORPHA:3339 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Muir-Torre Syndrome |
|
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... |
ORPHA:587 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Underdeveloped nasolabial fold, Overlapping toe, Anteverted nares, Micrognat... |
ORPHA:177907 |
Deeah Syndrome |
|
Prominent nasal tip, Decreased hemoglobin concentration, Epicanthus, Decreased heart rate variabi... |
OMIM:619004 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta... |
ORPHA:199306 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Epicanthus, Postaxial polydactyly, Fl... |
OMIM:614091 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morphology, Limitation o... |
ORPHA:2719 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Aortic regurgitation, Ptosis, Genu recurvatum, Congestive heart failure... |
ORPHA:90348 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, 2-3 toe syndactyly, Heart mur... |
OMIM:618653 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Wide nose, Camptodactyly of finger, Choanal atresia, Microg... |
ORPHA:2753 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate... |
ORPHA:581 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Narrow greater sciatic notch, Short palm, Anteverted nares, Depressed nasa... |
OMIM:312870 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Hematemesis... |
OMIM:615846 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain dicarboxylic acidur... |
OMIM:608836 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Absent hallux, Aspiration pneumonia, ... |
OMIM:216340 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Gout |
ORPHA:411543 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade... |
ORPHA:139411 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Telecanthus, Multiple joint contractures, Entropion, Camptodactyly of fi... |
ORPHA:1662 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Gast... |
ORPHA:342 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Splenomegal... |
ORPHA:50918 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Okamoto Syndrome |
|
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Spl... |
ORPHA:2729 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Hypogon... |
ORPHA:2905 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Wide nose, Acne, Macrodactyly, Palpebral edema, Tapered finger,... |
ORPHA:963 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... |
OMIM:249100 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Osteolysis... |
ORPHA:464329 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Splenomegaly, Pyloric stenosis, Ileus, Osteoporosis, Dysphagia, Hepatic... |
OMIM:613327 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Flexion contracture, Telangiectasia, Keratoconjunctivitis sicca,... |
OMIM:601675 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Joint laxity, Anteverted nares, Depressed nasal bridge, Broad nasal ti... |
ORPHA:1465 |
Wilson Disease |
|
Hemolytic anemia, Osteomalacia, Joint hypermobility, Thrombocytopenia, Atypical or prolonged hepa... |
OMIM:277900 |
Gaucher Disease, Perinatal Lethal |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatospl... |
OMIM:608013 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Underdeveloped nasal alae, Abnormal nostril m... |
ORPHA:2315 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Cardiomegaly |
ORPHA:349 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Arachnodactyly, Intervertebral disc degeneration |
OMIM:619656 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:363705 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Broad nasal tip, Cherry red spot of the macula, Hepatosplenomegaly, Cardi... |
ORPHA:79255 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Marburg Hemorrhagic Fever |
|
Uveitis, Leukopenia, Conjunctival hyperemia, Abnormal lymphocyte morphology, Internal hemorrhage,... |
ORPHA:99826 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Depressed nasal bridge, Optic nerve hypoplasia, Delayed proximal femo... |
ORPHA:226307 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Sparse eyelashes, Eczema, Depressed nasal bridge, Underdeveloped nasal alae, Hypo... |
OMIM:305100 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Micrognathia, Long fingers, Postaxia... |
ORPHA:521426 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Intracranial hemorrhage, Short palm, Clinodactyly of the 5th finger,... |
OMIM:613406 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Keratoconjunctivitis sicca, Infla... |
ORPHA:238468 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri... |
OMIM:616430 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Anteverted nares, Depressed nasal bridge, Bifid distal phal... |
ORPHA:97360 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Anteverted ... |
ORPHA:199 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Raynaud phenomenon, Cheilitis, Arthritis, ... |
ORPHA:536 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Angina pectoris, Anteverted nares, Hashimoto thyroiditis, Micrognathia, Telangiectasia... |
ORPHA:109 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
C Syndrome |
|
Joint dislocation, Epicanthus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Microgna... |
ORPHA:1308 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Wide nose, Palpebral edema, Macrodactyly, Tapered finger, Osteo... |
ORPHA:314769 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Flexion contracture, Optic atrophy, Short nose, Clinodac... |
OMIM:614225 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... |
OMIM:214500 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Recurrent upper respiratory tract in... |
OMIM:232240 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Neonatal alloimmune thrombocytopenia, Raynaud ... |
ORPHA:51 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... |
OMIM:610377 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Generalized lymphadenopathy, Reduced bone mineral density |
OMIM:620232 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Floating-Harbor Syndrome |
|
Narrow nasal bridge, Short metacarpal, Brachydactyly, Enlarged joints, Persistence of primary tee... |
ORPHA:2044 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Carcinoid Syndrome |
|
Small intestine carcinoid, Intestinal carcinoid, Chronic noninfectious lymphadenopathy, Hepatic n... |
ORPHA:100093 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... |
OMIM:603903 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Mic... |
OMIM:619503 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Choanal stenosis, Clinodactyly of the ... |
OMIM:619859 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Epididymitis, Va... |
ORPHA:2035 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ... |
OMIM:225500 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Marfan Syndrome |
|
Osteopenia, Retinal detachment, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limite... |
ORPHA:558 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Distal Deletion 9P |
|
Epicanthus, Wide nasal bridge, Upslanted palpebral fissure, Short nose, Brachydactyly |
ORPHA:1642 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hypoplasia of eyelid, Leukocytosis, Flexion contractur... |
OMIM:619321 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Abnormal optic chiasm morphology, Aortic regurgitation, Retinal detachment, Promin... |
ORPHA:268261 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... |
ORPHA:567983 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Hepatitis, Rheumatoid arth... |
ORPHA:589 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Rheumatoid arthritis |
ORPHA:399180 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Gray Platelet Syndrome |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Cleft Velum |
|
Hypoplasia of the maxilla, Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Tapered finger, Joint hyperflexibility, Clinodactyly of the 5th finger, P... |
ORPHA:65286 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... |
ORPHA:30391 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Optic atrophy, Contracture... |
OMIM:617527 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Periostitis, Osteolysis |
OMIM:612852 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Hennekam Syndrome |
|
Lymphopenia, Craniosynostosis, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lymphangi... |
ORPHA:2136 |
Multiple Myeloma |
|
Osteopenia, Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, ... |
ORPHA:29073 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Atrial fibrillation, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinop... |
OMIM:613795 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fundus, Decreased ci... |
OMIM:158350 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Marfan Syndrome |
|
Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Arachnodactyly, Protrusio acet... |
OMIM:154700 |
Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Recurrent herpes, Lymphoproliferative disorder, Eczema, Epistaxis, H... |
OMIM:301000 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, E... |
ORPHA:449432 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Joint stiffness, Limitation of joint mobility, Cone-shaped epiphysis, Short f... |
OMIM:614185 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Developmental glaucoma, Osteop... |
OMIM:245600 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Epicanthus, Proportionate shortening of all digits, Anteverted nares, Tapered ... |
ORPHA:280633 |
Cadds |
|
Short nose, Cholangitis, Micrognathia |
ORPHA:369942 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Functional intestinal obstruction, Chronic noninfectious lymphadenopathy, Mechanica... |
ORPHA:100079 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Clinodactyly of the 5th finger, Joint laxity, Medial flaring of ... |
OMIM:194050 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla |
ORPHA:3044 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis |
ORPHA:79099 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal ilium morphology, Sh... |
OMIM:614080 |
Distal Deletion 19P |
|
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Decreased circulating antibody level, Joint ... |
ORPHA:96129 |
Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ptosis, Epicanthus, Micrognat... |
OMIM:163950 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Epicanthus, Progressive flexion contractures, Abnormal location of the eyebrow, Equ... |
ORPHA:522077 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... |
ORPHA:100078 |
Dysbetalipoproteinemia |
|
Xanthelasma, Acute pancreatitis, Angina pectoris, Gout |
ORPHA:412 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia |
ORPHA:520 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenoc... |
ORPHA:171 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... |
OMIM:615503 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Left ventricular hyper... |
ORPHA:57777 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Long palpe... |
OMIM:614207 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Femoral bowing, Short long bone, Hypoplasia of the thymus, Overlapping ... |
OMIM:617022 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Toe syndactyly, Sparse eyelashes, Abnormal nasopharynx morphology, Choanal atresia, ... |
OMIM:129900 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Joint laxity, Epicanthus, Telecanthus, Sandal gap, Eczema, Optic nerve hyp... |
OMIM:620330 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Abnormality of retinal pigmentation, Block vert... |
ORPHA:50 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Depressed nasal bridge, Postaxial polydactyly, Splenomegaly, Postaxial hand polydacty... |
OMIM:617088 |
Williams Syndrome |
|
Osteopenia, Myocardial infarction, Micrognathia, Clinodactyly of the 5th finger, Chronic otitis m... |
ORPHA:904 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Raynaud phenomenon, Clubbing, Bronchiectasis, Keratoconjunctivitis sicca, Pulm... |
ORPHA:79128 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fundus, Micrognathia |
OMIM:615108 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Cryptococcosis |
|
Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Meningitis, Peritonitis, Systemic lupu... |
ORPHA:1546 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Portal hypertension, Rickets, Reduced bone mineral densit... |
OMIM:613658 |
Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Spina bifida occulta, Upslanted palpebral fissure, Short middle phalanx o... |
OMIM:301030 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Toe syndactyly, Sparse eyelashes, Lacrimal duct stenosis, Choana... |
OMIM:604292 |
Plague |
|
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Abnormality of... |
ORPHA:707 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Otitis media, Chorioretinal coloboma, Joint laxity, Anteverted nares, Wide nasal bridg... |
OMIM:619475 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ptosis, Prominent nasal bridge, Highly arched eyebrow, Short toe, Short nose, ... |
ORPHA:1519 |
Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Wide nose, Synophrys, Short nose, Downslanted palpebral fissures, Thick eyebrow |
ORPHA:1394 |
Congenital Tracheal Stenosis |
|
Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel ... |
ORPHA:141127 |
Cowden Syndrome 6 |
|
Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fundus, Micrognathia |
OMIM:615109 |
Malakoplakia |
|
Follicular hyperplasia, Orchitis, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon |
ORPHA:556 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Depressed nasal bridge, Camptodactyly of finger, Joint s... |
ORPHA:1606 |
Subcorneal Pustular Dermatosis |
|
Pustule, Increased circulating antibody level, Rheumatoid arthritis |
ORPHA:48377 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Anteverted nares, Highly arched eyebrow, Synophrys, Aortic valve stenosis, ... |
ORPHA:96147 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst... |
ORPHA:137675 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Synophrys, Absent nasal septal cartilage, Wide nas... |
OMIM:610828 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Anteverted nares,... |
ORPHA:672 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Idiopathic Camptocormia |
|
Abnormal inflammatory response, Osteoarthritis, Myelitis, Myositis |
ORPHA:1320 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increased mean corpuscular hem... |
ORPHA:90041 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly |
ORPHA:1517 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Ane... |
ORPHA:642 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal pla... |
OMIM:304050 |
Microlissencephaly-Micromelia Syndrome |
|
Short nose, Palpebral edema, Adducted thumb |
ORPHA:50810 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Depressed nasal bridge, Flexion contracture, Wide n... |
OMIM:619479 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Epicanthus, Aplasia of the nasal bone, Joint stiffness, Micrognathia, Short nose, Ups... |
OMIM:618820 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Gout, Tubulointerstitial nephritis, Hypertension, Hypotension, Anemia |
OMIM:174000 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot... |
ORPHA:2968 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Highly arched eyebrow, Micrognathia, Wide nasal bridge, Pulmonary arterial hype... |
ORPHA:2282 |
1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Upslanted palpebral fissure, Short nose, Joint hypermobility |
ORPHA:293948 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Increased fecal c... |
OMIM:263700 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Pyloric stenosis, Hypoplasia of... |
OMIM:618419 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... |
ORPHA:79330 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Antinuclear antib... |
ORPHA:449395 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Medulloblastoma |
|
Cerebellar hemorrhage, Delayed cranial suture closure |
ORPHA:616 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
Sepsis In Premature Infants |
|
Tachycardia, Disseminated viral infection, Severe infection, Enterocolitis, Bradycardia, Hypotens... |
ORPHA:90051 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Arthritis, Joint hyperflexibility |
ORPHA:93111 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis |
OMIM:614921 |
Cutaneous Neuroendocrine Carcinoma |
|
Lymphoid leukemia, Chronic noninfectious lymphadenopathy |
ORPHA:79140 |
Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
OMIM:105830 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena |
ORPHA:100082 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, Fingerp... |
OMIM:600376 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Epicanthus, Telecanthus, Anteverted nares, Tapered finger, Carious teeth, Short thumb,... |
OMIM:619522 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Insulin-Resistance Syndrome Type B |
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Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Leukopenia, Increased circ... |
ORPHA:2298 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Gastroesophageal reflux, Hi... |
OMIM:620233 |
Atelis Syndrome 2 |
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Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel... |
OMIM:620185 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Osteopenia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus, Gastro... |
OMIM:613177 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Paralytic ileus, Melena, Pancreatic isle... |
OMIM:276700 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Osteopenia, Cardiomegaly, Abnormal bone ossification |
ORPHA:2463 |
Autosomal Dominant Dopa-Responsive Dystonia |
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Hypertension, Paresis of extensor muscles of the big toe, Progressive flexion contractures, Rheum... |
ORPHA:98808 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Vascular Ehlers-Danlos Syndrome |
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Joint dislocation, Narrow nasal bridge, Telecanthus, Congenital hip dislocation, Telangiectasia o... |
ORPHA:286 |
Adenohypophysitis |
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Antinuclear antibody positivity, Orthostatic hypotension, Chronic lymphocytic meningitis, Hashimo... |
ORPHA:95512 |
Chédiak-Higashi Syndrome |
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Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... |
ORPHA:167 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Micrognathia, Bulbous nose,... |
OMIM:614437 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon |
ORPHA:163746 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... |
ORPHA:449563 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Pallister-Killian Syndrome |
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Congenital hip dislocation, Micrognathia, Flexion contracture, Camptodactyly of 2nd-5th fingers, ... |
OMIM:601803 |
Microform Holoprosencephaly |
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Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose |
ORPHA:280200 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Hypertensive crisis, Brain abscess, Pneumonia, Myocarditis, Leukocytosis, Throm... |
ORPHA:544482 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Tortuosity of conjunctival vessels, Ol... |
OMIM:230000 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Gitelman Syndrome |
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Prolonged QT interval, Raynaud phenomenon, Gout, Low-to-normal blood pressure, Ventricular fibril... |
ORPHA:358 |
Panhypophysitis |
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Antinuclear antibody positivity, Orthostatic hypotension, Chronic lymphocytic meningitis, Hashimo... |
ORPHA:95513 |
Lymphangioleiomyomatosis |
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Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Abnormal morphology of female i... |
ORPHA:538 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Cardiomegaly, Osteoporosis, Oligosacchariduria, Fatigable weakness of respiratory m... |
ORPHA:365 |
Branchiooculofacial Syndrome |
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Telecanthus, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, Broad nasal tip, ... |
OMIM:113620 |
Malt Lymphoma |
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Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Invasive parasitic infection, Autoimmunity, Subarachnoid hemorrhage, Sev... |
ORPHA:139417 |
Holoprosencephaly 9 |
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Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Hypoplasia of the m... |
OMIM:610829 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Neuroendocrine Tumor Of Stomach |
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Hepatomegaly, Chronic noninfectious lymphadenopathy, Hematemesis, Melena, Iron deficiency anemia,... |
ORPHA:100075 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Lymphadenopathy, Oste... |
ORPHA:667 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Telangiectasia of the skin, Depressed nasal bridge, Bowing of the legs, Retinal vascu... |
ORPHA:97685 |
Microphthalmia, Syndromic 2 |
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Retinal detachment, Ventricular septal defect, Dextrocardia, Remnants of the hyaloid vascular sys... |
OMIM:300166 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Tangier Disease |
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Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Hydranencephaly |
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Postnatal growth retardation, Dilatation of the ventricular cavity, Intrauterine growth retardati... |
ORPHA:2177 |
Sarcoidosis |
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Abnormality of the gastrointestinal tract, Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophili... |
ORPHA:797 |
Sheehan Syndrome |
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Orthostatic hypotension, Chronic lymphocytic meningitis, Antinuclear antibody positivity, Palpita... |
ORPHA:91355 |
Cherubism |
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Narrow palate, Submandibular lymph node enlargement |
OMIM:118400 |
Abetalipoproteinemia |
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Osteopenia, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Keratoconjunctivitis... |
ORPHA:14 |
Leptospirosis |
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Pericarditis, Skin rash, First degree atrioventricular block, Hepatitis, Uveitis, Retinal hemorrh... |
ORPHA:509 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Pulmonary Capillary Hemangiomatosis |
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Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Lar... |
ORPHA:49041 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, High-ou... |
OMIM:187300 |
Progressive Multifocal Leukoencephalopathy |
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Meningitis, Hematological neoplasm |
ORPHA:217260 |
Lipodystrophy, Familial Partial, Type 7 |
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Orthostatic hypotension, Narrow nasal ridge, Large fontanelles, Hypertension, Pigmentary retinopa... |
OMIM:606721 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ... |
ORPHA:99827 |
Glycogen Storage Disease Ii |
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Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm... |
ORPHA:99889 |
Angiostrongyliasis |
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Unusual CNS infection, Meningitis |
ORPHA:74 |
Reynolds Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis... |
OMIM:613471 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Lymphadenopathy, Enlargement of p... |
ORPHA:79078 |
Choreoacanthocytosis |
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Temporomandibular joint crepitus, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly... |
ORPHA:2388 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Aplasia of the sweat glands, Splenomegaly, Recurrent infection of the gastrointestinal tract, Hep... |
OMIM:612132 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Bohring-Opitz Syndrome |
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Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retention |
ORPHA:97297 |
Multiple Endocrine Neoplasia Type 2 |
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Cervical neoplasm, Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymphadenopathy, P... |
ORPHA:653 |
Arachnoiditis |
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Meningitis |
ORPHA:137817 |
Tick-Borne Encephalitis |
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Unusual CNS infection, Abnormal myocardium morphology, Meningitis, Myelitis |
ORPHA:297 |
Knobloch Syndrome |
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Lymphangioma, Pyloric stenosis |
ORPHA:1571 |
Chronic Graft Versus Host Disease |
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Fasciitis, Pancytopenia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthr... |
ORPHA:99921 |
Peters Plus Syndrome |
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Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Short toe, Optic atrophy,... |
ORPHA:709 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Trichinellosis |
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Skin rash, Meningitis, Conjunctivitis, Retinal hemorrhage |
ORPHA:863 |
Peroxisome Biogenesis Disorder 4B |
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Optic atrophy, Short nose, Rod-cone dystrophy, Retinal dystrophy |
OMIM:614863 |
Ramon Syndrome |
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Delayed eruption of teeth, Optic disc pallor, Telangiectasia, Pigmentary retinopathy, Juvenile rh... |
OMIM:266270 |
Neuroocular Syndrome |
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Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Norrie Disease |
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Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly |
ORPHA:91387 |
Craniofacial Microsomia 1 |
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Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Blepharophimosis, Partial duplication o... |
OMIM:164210 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Lymphadenop... |
OMIM:256040 |
Full Nf2-Related Schwannomatosis |
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Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Carney Complex |
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Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Leydig cell neoplasia, Ovarian se... |
ORPHA:1359 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Hyperphosphaturia, Osteomalacia, Cardiomegaly, Pericardial effusion, Ret... |
ORPHA:51608 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Short nose |
OMIM:252160 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Short nose |
OMIM:252150 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Renal Cysts And Diabetes Syndrome |
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Gout |
OMIM:137920 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Small scrotum, Anal stenosis, Anterior pituitary hypoplasia, Pyloric... |
OMIM:181450 |
Pituitary Dermoid And Epidermoid Cysts |
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Meningitis, Neoplasm of the anterior pituitary |
ORPHA:91351 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple... |
OMIM:619991 |
Viss Syndrome |
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Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... |
OMIM:619472 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Congenital pyloric atresia |
ORPHA:158684 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:180500 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma, Single ventricle |
OMIM:157170 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level |
ORPHA:3385 |
Sacral Defect With Anterior Meningocele |
|
Sacral lipoma, Meningitis |
OMIM:600145 |
Penile Agenesis |
|
Short nose, Depressed nasal bridge |
ORPHA:49 |