Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Dense metaphyseal bands, Osteopenia, Small for gestational age, Slender long bones with narrow di... |
ORPHA:50811 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Limitation of joint mobility, Hip dislocation, Slender long bone, Hypoplastic pelvis, Spina bifid... |
ORPHA:2840 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Irritability, Disinhibition, Inappropriate laughter, Emotional bl... |
OMIM:172700 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... |
ORPHA:2774 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology |
ORPHA:98848 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared... |
OMIM:610758 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Three M Syndrome 3 |
|
Small for gestational age, Slender long bone, Hip dysplasia, Decreased body weight, Clinodactyly ... |
OMIM:614205 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Slender long bone, Decreased calvarial ossification, Decreased body weight, Art... |
OMIM:618265 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog... |
ORPHA:1486 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2W |
|
Slender long bone, Hammertoe |
ORPHA:488333 |
Three M Syndrome 1 |
|
Small for gestational age, Hip dislocation, Slender long bone, Short 5th finger, Hypoplastic pelv... |
OMIM:273750 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Gracile Bone Dysplasia |
|
Failure to thrive, Asplenia, Flared metaphysis, Slender long bone, Hypoplastic spleen, Decreased ... |
OMIM:602361 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with na... |
OMIM:608154 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Short foot, Slender long bone, Short palm, Decreased skull ossification, Calvarial os... |
OMIM:244460 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Frontotemporal Dementia |
|
Irritability, Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Slender long bone, Spina bifida occulta, Joint hyperflexibility, Reduced bone mineral density |
ORPHA:1185 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... |
ORPHA:98850 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Metaphyseal widening, Triangular shaped distal phalanges of the hand, Slender long bone, Abnormal... |
ORPHA:73230 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Elbow flexion contracture, 2-3 toe syndactyly, Knee flexion contrac... |
OMIM:618156 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
3M Syndrome |
|
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hypoplastic p... |
ORPHA:2616 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Larg... |
OMIM:271640 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Slender l... |
OMIM:613385 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Three M Syndrome 2 |
|
Small for gestational age, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly |
OMIM:612921 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Meier-Gorlin Syndrome 2 |
|
Patellar aplasia, Slender long bone, Camptodactyly, Tracheomalacia, Failure to thrive, Joint hype... |
OMIM:613800 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Meier-Gorlin Syndrome 5 |
|
Irregular femoral epiphysis, Patellar aplasia, Slender long bone, Hypoplasia of the capital femor... |
OMIM:613805 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexion contracture,... |
OMIM:600920 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... |
ORPHA:33543 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Small for gestational age, Slender long bone, Radial deviation ... |
OMIM:269880 |
Meier-Gorlin Syndrome 4 |
|
Slender long bone, Failure to thrive, Patellar aplasia |
OMIM:613804 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Osteopenia, Arachnodactyly, Joint hypermobility, Thin metatarsal cortices, Sle... |
ORPHA:2463 |
Leptin Receptor Deficiency |
|
Emotional lability, Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
Meier-Gorlin Syndrome 1 |
|
Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, Short palm, Clinodactyly of... |
OMIM:224690 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, Small finger, Short... |
OMIM:170390 |
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 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis |
OMIM:248910 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Thrombocytopenia |
ORPHA:96181 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Alazami Syndrome |
|
Slender long bone |
ORPHA:319671 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Failure to thrive, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, S... |
OMIM:601812 |
Malan Overgrowth Syndrome |
|
Slender long bone |
ORPHA:420179 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Meier-Gorlin Syndrome 3 |
|
Absent sternal ossification, Aplasia/Hypoplasia of the patella, Patellar aplasia, Coxa vara, Pate... |
OMIM:613803 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-shaped epiphyses o... |
OMIM:210730 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Proximal placement of thumb, Coxa valga, Slender long bone, Failure to thrive |
OMIM:212066 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Depression, Irritability, Addictive alcohol use, ... |
ORPHA:399 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia |
OMIM:618406 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Shortening of all distal phalanges of the fingers, Genu valgum, Slender long bone... |
OMIM:616202 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Slender long bone, Joint hypermobility |
OMIM:618590 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Patent ductus arteriosus, Upper limb undergrowth, Obesity, Slender ... |
ORPHA:369837 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Aggressive behavior |
ORPHA:329249 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Chromosome 22Q13 Duplication Syndrome |
|
Emotional lability, Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Marshall-Smith Syndrome |
|
Hallux valgus, Decreased hip abduction, Large sternal ossification centers, Recurrent fractures, ... |
OMIM:602535 |
Faciocardiomelic Syndrome |
|
Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin b... |
OMIM:612731 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Obesity And Hypopigmentation |
|
Polyphagia |
OMIM:620195 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Seckel Syndrome 10 |
|
Cone-shaped epiphysis, Slender long bone, Metaphyseal widening, Elevated hemoglobin A1c |
OMIM:617253 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal ... |
ORPHA:666 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Patellar aplasia, Slender long bone... |
ORPHA:2554 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Tapered toe, Shoulder flexion contracture, Limb joint contracture, Achilles tend... |
OMIM:620369 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Metaphyseal widening, Slender long bone, Decreased number of sternal o... |
OMIM:234100 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Cerebellar-Facial-Dental Syndrome |
|
Slender long bone, Failure to thrive, Foot joint contracture, Tapered finger |
ORPHA:444072 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy |
OMIM:604121 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia |
ORPHA:71529 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia |
OMIM:617119 |
14Q11.2 Microduplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Small for gestational age, Rocker bottom foot, Camp... |
OMIM:208150 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Hennekam-Beemer Syndrome |
|
Mastocytosis |
ORPHA:2135 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia |
OMIM:620085 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia |
ORPHA:177910 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Emotional lability, Decreased T cell activation, Polyphagia |
ORPHA:179494 |
Neurofibromatosis Type 1 |
|
Recurrent fractures, Joint stiffness, Genu valgum, Chronic myelogenous leukemia, Slender long bon... |
ORPHA:636 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Small for gestational age, Hypoplastic ilia, Long fingers, ... |
OMIM:264090 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Wide anterior fontanel, Coxa vara, Slender long bone, Tal... |
OMIM:278250 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Wagro Syndrome |
|
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Emotional labili... |
OMIM:612469 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... |
OMIM:613470 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia |
ORPHA:71526 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand... |
OMIM:620083 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arachnodactyly, Failure to thrive in infancy, Sagittal craniosynostosis, Absent thumb, Patent duc... |
ORPHA:500150 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia |
ORPHA:276556 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract |
OMIM:601794 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia |
ORPHA:276575 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal... |
ORPHA:536471 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia |
OMIM:617885 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Agitation, Polyphagia |
ORPHA:324575 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Osteopenia, Bowing of the long bones, Multiple joint contractures, Arachnodactyly,... |
ORPHA:536467 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
Schaaf-Yang Syndrome |
|
Skin-picking, Polyphagia, Impulsivity |
OMIM:615547 |
Temple Syndrome |
|
Polyphagia |
ORPHA:254516 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Irritability, Emotional lability, Polydipsia, Polyphagia |
ORPHA:525731 |
Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract |
OMIM:614878 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation, Polyphagia |
ORPHA:66628 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
OMIM:606407 |
Martsolf Syndrome 1 |
|
Joint laxity, Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata... |
OMIM:212720 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
Angelman Syndrome |
|
Hyperactivity, Aggressive behavior, Tongue thrusting, Self-injurious behavior, Inappropriate laug... |
ORPHA:72 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... |
ORPHA:3472 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Allodynia |
ORPHA:137596 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Emotional lability, Polyphagia, Self-mutilation |
ORPHA:251028 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal... |
ORPHA:542323 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia |
OMIM:609734 |
Insulinoma |
|
Polyphagia |
ORPHA:97279 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Secondary Short Bowel Syndrome |
|
Polyphagia |
ORPHA:95427 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessive-compulsive tr... |
ORPHA:177901 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Abnormal temper tantrums, Compulsive behaviors, Skin-picking, Polyphagia |
ORPHA:398069 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia |
ORPHA:98754 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Skin-picking, Polyphagia, Abnormal temper tantrums |
ORPHA:398079 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia |
ORPHA:251004 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233710 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Abnormal ... |
ORPHA:96121 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess |
OMIM:233690 |
Pseudohypoparathyroidism Type 1C |
|
Irritability, Polyphagia, Depression |
ORPHA:79444 |
Adnp Syndrome |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Abnormal temper tantrums, Attention deficit hyper... |
ORPHA:404448 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Irritability, Compulsive behav... |
OMIM:615873 |
Pseudohypoparathyroidism Type 1A |
|
Irritability, Polyphagia, Abnormal platelet function, Depression |
ORPHA:79443 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:176270 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Slender long bones w... |
ORPHA:2834 |
Weaver Syndrome |
|
Polyphagia |
OMIM:277590 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors, Emotional labilit... |
ORPHA:293987 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess |
OMIM:306400 |
Prader-Willi Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
Niemann-Pick Disease Type C |
|
Narcolepsy |
ORPHA:646 |
X-Linked Acrogigantism |
|
Polyphagia |
ORPHA:300373 |
Craniopharyngioma |
|
Polyphagia |
ORPHA:54595 |
African Trypanosomiasis |
|
Narcolepsy |
ORPHA:3385 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Allodynia |
OMIM:603041 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Polyphagia, Dysphagia |
ORPHA:1606 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Aggressive behavior, Dysphagia, Polyphagia, Self-mutilation, Oppositional defiant disorder |
OMIM:607872 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Polyphagia |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Polyphagia |
OMIM:269700 |
Alström Syndrome |
|
Polyphagia |
ORPHA:64 |