| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Trimethylaminuria... |
ORPHA:468726 |
| Myelolymphatic Insufficiency |
|
Hyposegmentation of neutrophil nuclei, Leukopenia |
OMIM:310350 |
| Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Acromesomelic Dysplasia 2C |
|
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... |
OMIM:201250 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... |
OMIM:112910 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... |
OMIM:118651 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Renal dysplasia, Hypoplastic acetabulae... |
ORPHA:93323 |
| Leri-Weill Dyschondrosteosis |
|
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... |
OMIM:127300 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
| Langer Mesomelic Dysplasia |
|
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... |
OMIM:249700 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... |
ORPHA:1972 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, ... |
OMIM:619217 |
| Acheiropody |
|
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... |
OMIM:200500 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Micropenis, Absent thumb, Hypoplasia of the... |
OMIM:612447 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia |
OMIM:246570 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Lytic defects of humeral diaphysis, Fibular hypoplasia, Hypoplasia of the radius, Mixed sclerosis... |
OMIM:601376 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Pseudoarthrosis, Hypoplasia of the radius, Short tibia |
OMIM:156230 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Nephritis, Ulnar bowing, Short forearm, Short tibia |
OMIM:127350 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... |
OMIM:605274 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomelia, Short... |
OMIM:607143 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
| Huntington Disease-Like 2 |
|
Dystonia, Weight loss, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
| Tibial Hemimelia |
|
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial clu... |
ORPHA:93322 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia |
ORPHA:318 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... |
ORPHA:1986 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... |
OMIM:201170 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Slc35A2-Cdg |
|
Metatarsus adductus, Failure to thrive in infancy, Talipes equinovarus, Aplasia/hypoplasia involv... |
ORPHA:356961 |
| Short Rib-Polydactyly Syndrome |
|
Hypospadias, Abnormal ilium morphology, Short ribs, Urogenital sinus anomaly, Syndactyly, Abnorma... |
ORPHA:1505 |
| Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... |
OMIM:601559 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... |
OMIM:135750 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi... |
ORPHA:85188 |
| Microphthalmia With Limb Anomalies |
|
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... |
ORPHA:1106 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... |
OMIM:258860 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... |
OMIM:601560 |
| Microcephaly-Micromelia Syndrome |
|
Micrognathia, Talipes equinovarus, Absent radius, Forearm undergrowth, Oligodactyly, Micromelia, ... |
OMIM:251230 |
| Femoral-Facial Syndrome |
|
Micrognathia, Talipes equinovarus, Long penis, Abnormal localization of kidney, Coxa vara, Polycy... |
ORPHA:1988 |
| Eiken Syndrome |
|
Abnormal acetabulum morphology, Narrow pelvis bone, Metaphyseal irregularity, Epiphyseal dysplasi... |
ORPHA:79106 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyl... |
OMIM:613091 |
| Dent Disease 1 |
|
Metaphyseal irregularity, Microscopic hematuria, Femoral bowing, Chronic kidney disease, Hypercal... |
OMIM:300009 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypospadias, Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Proximal placement... |
OMIM:609945 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... |
ORPHA:93356 |
| Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Small for gestational age, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasi... |
OMIM:227270 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand |
OMIM:228250 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly |
OMIM:258865 |
| Blount Disease |
|
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... |
ORPHA:988 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... |
ORPHA:85170 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... |
ORPHA:166016 |
| Weismann-Netter Syndrome |
|
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... |
ORPHA:3344 |
| Atelosteogenesis Type Iii |
|
Fibular aplasia, Micrognathia, Club-shaped distal femur, Knee dislocation, Distal tapering femur,... |
ORPHA:56305 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... |
OMIM:268305 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Tibial bowing, Fibular bowing, Nephrocalcinosis, Bowing of the legs, Proximal tub... |
OMIM:300554 |
| Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Hypoplasia of the odontoid process, Short finger,... |
OMIM:250215 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Horseshoe kidney, Micrognathia, Genu varum, Aplasia/Hypoplasia of the patella, A... |
ORPHA:3320 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal tubular dysfunction, Tibial bowing, Fibular bowing, Bowing of the legs, Failure to thrive, ... |
OMIM:241530 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... |
OMIM:602111 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Bowing o... |
OMIM:264700 |
| Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... |
OMIM:263520 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... |
ORPHA:2634 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Microp... |
OMIM:617925 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal tubular dysfunction, Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregul... |
OMIM:307800 |
| Omodysplasia 1 |
|
Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplasia, Limited knee extens... |
OMIM:258315 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... |
OMIM:119800 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... |
ORPHA:96334 |
| Acheiropodia |
|
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... |
ORPHA:931 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... |
ORPHA:2751 |
| Eiken Syndrome |
|
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... |
OMIM:600002 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... |
OMIM:223800 |
| Brachymesomelia-Renal Syndrome |
|
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... |
OMIM:113470 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... |
OMIM:171480 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous ti... |
OMIM:304120 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... |
OMIM:206920 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
| Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
| Campomelic Dysplasia |
|
Hydronephrosis, Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalange... |
OMIM:114290 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Nep... |
OMIM:208500 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Fibular hypoplasia, Mesomelia, Lateral humeral condyle aplasia, Coxa valga |
OMIM:164900 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... |
OMIM:108720 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Fin... |
ORPHA:1788 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Acrorenal-Mandibular Syndrome |
|
Toe syndactyly, Micrognathia, Abnormality of the ureter, Renal agenesis, Hypoplastic scapulae, Ap... |
OMIM:200980 |
| Occipital Horn Syndrome |
|
Aplasia/hypoplasia of the humerus, Absent tibia, Humerus varus, Avascular necrosis of the capital... |
ORPHA:198 |
| Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hypoplastic scapulae, Hypoplasia of the radius, Finger syndactyly, Split hand, Hip ... |
ORPHA:958 |
| Cousin Syndrome |
|
Fibular aplasia, Toe syndactyly, Hydronephrosis, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndac... |
OMIM:260660 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... |
OMIM:274000 |
| Fibrochondrogenesis 1 |
|
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... |
OMIM:228520 |
| Campomelic Dysplasia |
|
Hydronephrosis, Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovaru... |
ORPHA:140 |
| Phocomelia, Schinzel Type |
|
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Hypoplasia of penis, Talipes, Ap... |
ORPHA:2879 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplicati... |
OMIM:236680 |
| Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... |
OMIM:601027 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremiti... |
OMIM:276820 |
| Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
| Cranioectodermal Dysplasia 1 |
|
Triphalangeal hallux, Tubulointerstitial nephritis, Rhizomelia, Broad toe, Fibular hypoplasia, Sh... |
OMIM:218330 |
| Schneckenbecken Dysplasia |
|
Diaphyseal thickening, Hypoplastic scapulae, Fibular hypoplasia, Short ribs, Abnormality of the m... |
ORPHA:3144 |
| Orofaciodigital Syndrome Type 4 |
|
Micrognathia, Genu varum, Renal agenesis, Failure to thrive, Finger syndactyly, Split hand, Renal... |
ORPHA:2753 |
| Charge Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Micrognathia, Absent tibia, Bifid femur, Hand... |
OMIM:214800 |
| Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Failure to thrive... |
OMIM:300373 |
| Kinsship Syndrome |
|
Horseshoe kidney, Micrognathia, Renal hypoplasia, Polydactyly, Failure to thrive, Fibular hypopla... |
OMIM:619297 |
| Camptodactyly Syndrome, Guadalajara, Type I |
|
Hallux valgus, Toe syndactyly, Tubular metacarpal bones, Absent ethmoidal sinuses, Camptodactyly ... |
OMIM:211910 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Horseshoe kidney, Micrognathia, Fibular hypoplasia, Small hand, Hip subluxation, Bra... |
ORPHA:444077 |
