| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... |
ORPHA:93323 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... |
OMIM:605274 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Sandal gap, Respiratory distress, Short humerus, Short ribs, Talipes equ... |
OMIM:607143 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short tibia, Retinal coloboma, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| Joubert Syndrome 7 |
|
Episodic tachypnea, Genu valgum, Postaxial polydactyly, Tachypnea, Central apnea, Postaxial hand ... |
OMIM:611560 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... |
ORPHA:1106 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... |
ORPHA:356961 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... |
OMIM:268305 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... |
OMIM:251230 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea, Polydactyly |
OMIM:616490 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea, Retinal dystrophy, Postaxial hand polydactyly |
OMIM:617622 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
| Bent Bone Dysplasia Syndrome 2 |
|
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... |
OMIM:620076 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... |
ORPHA:56305 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Talipes equinovarus, Short tibia, Short femur |
OMIM:620306 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... |
OMIM:609945 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Hyperventilation, Tachypnea, Intercostal retractions |
ORPHA:91359 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hyp... |
OMIM:616300 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:227270 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... |
OMIM:613320 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... |
OMIM:609441 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Tachypnea, ... |
ORPHA:71275 |
| Shwachman-Diamond Syndrome 1 |
|
Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Respiratory distress, Pancytopenia,... |
OMIM:260400 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... |
OMIM:119800 |
| Joubert Syndrome 9 |
|
Episodic tachypnea, Apnea, Retinal dystrophy |
OMIM:612285 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... |
OMIM:263520 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Hypoplastic inferior ilia, Short metacarpal, Optic disc coloboma, Retina... |
OMIM:608940 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Hypoplastic scapulae, Short tibia, Thumb contracture, Hypopl... |
ORPHA:96334 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Micrognathia, Short humerus, Fibular hyp... |
OMIM:258315 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea |
OMIM:267450 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Episodic tachypnea, Apnea, Retinal degeneration, Optic disc pallor |
ORPHA:79264 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Postaxial polyda... |
OMIM:617925 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Short thumb, Persistence of hemoglobin F, Micrognathia, Macroc... |
OMIM:612561 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cone-shaped epiphysis, Small cervical vertebral bodies, Twelfth rib hypoplasia, Rhizomelic arm sh... |
ORPHA:397715 |
| Propionic Acidemia |
|
Pancytopenia, Apnea, Tachypnea, Thrombocytopenia, Neutropenia, Anemia |
OMIM:606054 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Radial bowing, Ulnar deviated club hands, Fibular hypoplasia, Co... |
OMIM:164900 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Tachypnea, Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea |
OMIM:263000 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Micrognathia, Chorioretinal coloboma |
ORPHA:163961 |
| Joubert Syndrome 3 |
|
Episodic tachypnea, Pigmentary retinopathy, Central apnea, Retinal dystrophy |
OMIM:608629 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Slender finger, Cutaneous syndactyly of toes, Contracture of the proximal interphalangeal joint o... |
ORPHA:2872 |
| Joubert Syndrome With Oculorenal Defect |
|
Chorioretinal coloboma, Apnea, Hand polydactyly, Tachypnea, Foot polydactyly, Retinal dystrophy |
ORPHA:2318 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation |
OMIM:619483 |
| Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... |
OMIM:603671 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Atypical Rett Syndrome |
|
Episodic tachypnea, Small hand, Short foot, Sudden episodic apnea |
ORPHA:3095 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Anemia, Optic disc pallor, Tachypnea |
OMIM:615838 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Optic nerve hypoplasia, Hypoplastic cervical vertebrae, Optic dis... |
ORPHA:79345 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea |
OMIM:616414 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Short toe, Microcytic anemia, Micrognathia, Talipes equinovarus |
ORPHA:98791 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Coxa valga, Pes cavus |
OMIM:616943 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Optic atrophy, Tachypnea |
OMIM:614299 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea |
OMIM:620203 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of the odontoid pr... |
OMIM:618150 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia |
ORPHA:79242 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Tachypnea, Micrognathia, Patellar hypoplasia |
ORPHA:2257 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... |
OMIM:108720 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... |
OMIM:274000 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Persistence of he... |
OMIM:617052 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent ... |
ORPHA:958 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachypnea |
ORPHA:264675 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
| Citrullinemia Type I |
|
Tachypnea, Ankle clonus |
ORPHA:247525 |
| Joubert Syndrome 1 |
|
Postaxial foot polydactyly, Clinodactyly, Chorioretinal coloboma, Optic disc coloboma, Episodic t... |
OMIM:213300 |
| Pyruvate Dehydrogenase Deficiency |
|
Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe |
ORPHA:765 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperventilation, Tachypnea, Thrombocytopenia |
OMIM:253270 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Talipes equinovarus, Tachypnea, Camptodactyly of finger |
OMIM:604320 |
| High Altitude Pulmonary Edema |
|
Tachypnea, Leukocytosis |
ORPHA:330012 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Leukopenia, Leukocytosis, Tachypnea, Neutrophilia |
ORPHA:36238 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Fibrochondrogenesis 1 |
|
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Broad long bones, Fibular hypop... |
OMIM:228520 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Methemoglobinemia |
ORPHA:464453 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Apnea, Pes planus, Hypoventilation |
OMIM:617143 |
| Occipital Horn Syndrome |
|
Aplastic clavicle, Humerus varus, Genu valgum, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:198 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Omodysplasia 2 |
|
Broad femoral neck, Short 1st metacarpal, Rhizomelic arm shortening, Micrognathia, Short humerus,... |
OMIM:164745 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Tachypnea, Thrombocytosis, Anemia |
OMIM:615934 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Micrognathia, Hypoventilation, Polydactyly |
ORPHA:314655 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tachypnea |
ORPHA:60032 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Nasal flaring |
ORPHA:70587 |
| Orofaciodigital Syndrome X |
|
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly |
OMIM:165590 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
| Multifocal Atrial Tachycardia |
|
Tachypnea |
ORPHA:3282 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... |
OMIM:208500 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Avian Influenza |
|
Respiratory distress, Lymphopenia, Leukopenia, Tachypnea, Thrombocytopenia |
ORPHA:454836 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Joubert Syndrome 2 |
|
Postaxial foot polydactyly, Chorioretinal coloboma, Abnormal foot morphology, Optic disc coloboma... |
OMIM:608091 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Tachypnea, Poiki... |
OMIM:618278 |
| Mogs-Cdg |
|
Optic atrophy, Respiratory distress, Hepatosplenomegaly, Apnea, Overlapping fingers, Hypoventilat... |
ORPHA:79330 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea |
ORPHA:178320 |
| Hyperparathyroidism, Neonatal Severe |
|
Anemia, Tachypnea, Metaphyseal irregularity, Splenomegaly |
OMIM:239200 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplastic ilia, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Absent thum... |
OMIM:105650 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Tachypnea |
OMIM:300770 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea |
OMIM:237310 |
| Biotinidase Deficiency |
|
Optic atrophy, Tachypnea, Apnea, Splenomegaly |
OMIM:253260 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Absent thumb, Persistence... |
ORPHA:124 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Micrognathia, Rudimentary to absent tib... |
OMIM:200980 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy |
ORPHA:348 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Tachypnea |
ORPHA:79126 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Orofaciodigital Syndrome Type 6 |
|
Finger clinodactyly, Preaxial polydactyly, Episodic tachypnea, Micrognathia, Apnea, Hand polydact... |
ORPHA:2754 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia |
ORPHA:1827 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Micrognathia, Persistence of hemoglobin F |
OMIM:617101 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Optic atrophy, Genu valgum, Hypoventilation, Hip contracture, Finger joint hypermobility |
OMIM:618493 |
| Rabin-Pappas Syndrome |
|
Micrognathia, Hypoventilation, Retinal detachment, Retinal telangiectasia, Optic nerve hypoplasia |
OMIM:620155 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Tachypnea, Apnea, Clubbing |
OMIM:265120 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, 11 pairs of ribs, Micrognathia, Femoral bowing, Tibial bowing, ... |
ORPHA:140 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Apnea, Leukocytosis, Tachypnea, Thrombocytosis, Anemia |
ORPHA:20 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equino... |
OMIM:236680 |
| Arima Syndrome |
|
Optic atrophy, Postaxial foot polydactyly, Chorioretinal coloboma, Tachypnea, Postaxial hand poly... |
OMIM:243910 |
| Joubert Syndrome |
|
Foot polydactyly, Hand polydactyly, Apnea, Episodic tachypnea |
ORPHA:475 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hand clenching, Overlapping fingers, Optic atrophy, Hypoventilation |
OMIM:606056 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal hemoglobin, Talipes equinovarus, Brachydactyly, Anemia, Clinodactyly of t... |
ORPHA:847 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Clinodactyly, HbH hemoglobin, Radial deviation of finger, Absent frontal sinuses, Talipes equinov... |
OMIM:301040 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Knee flexion contracture, Calf muscle hypertrophy, Achilles tendon contracture, ... |
OMIM:310200 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Tachypnea |
OMIM:610978 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation |
OMIM:618232 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abnormality of the lower limb, Increased circulating myelocyte count, Tachy... |
ORPHA:36234 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Short ribs, Hypoplastic v... |
ORPHA:3144 |
| Bethlem Muscular Dystrophy |
|
Ankle flexion contracture, Interphalangeal joint contracture of finger, Camptodactyly of finger, ... |
ORPHA:610 |
| Cholera |
|
Hyperventilation, Palmoplantar cutis laxa, Tachypnea |
ORPHA:173 |
| Beta-Ketothiolase Deficiency |
|
Tachypnea, Leukocytosis, Thrombocytosis |
ORPHA:134 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Nocturnal hypoventilation, Apnea, Hypoventilation, Central hypoventilation |
OMIM:209880 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation |
OMIM:168605 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Tachypnea |
OMIM:201475 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Tachypnea, Apnea, Clubbing |
OMIM:610921 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation |
ORPHA:2942 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Abnormal optic nerve morphology, Abnormal foot morphology, Pes cavus, Hypoventilat... |
ORPHA:99949 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea |
ORPHA:542323 |
| Synaptic Congenital Myasthenic Syndromes |
|
Abnormality of the knee, Talipes equinovarus, Hypoventilation, Respiratory distress |
ORPHA:98915 |
| Prader-Willi Syndrome |
|
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Hypoventilation, Hip dysplasia... |
OMIM:176270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Knee contracture, Hypoventilation |
OMIM:620275 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Tachypnea |
ORPHA:860 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Coronary Arterial Fistula |
|
Tachypnea, Pedal edema |
ORPHA:2041 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Tachypnea, Clubbing |
OMIM:610913 |
| Smooth Muscle Dysfunction Syndrome |
|
Tachypnea, Retinal infarction |
OMIM:613834 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Lead Poisoning |
|
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
| Joubert Syndrome 5 |
|
Episodic tachypnea, Central apnea, Rod-cone dystrophy, Retinal coloboma |
OMIM:610188 |
| Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ... |
OMIM:218330 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
| Double Outlet Right Ventricle |
|
Tachypnea |
ORPHA:3426 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Tachypnea |
ORPHA:217563 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
| Proximal Spinal Muscular Atrophy |
|
Absent patellar reflexes, Hypoventilation, Knee flexion contracture, Distal lower limb muscle wea... |
ORPHA:70 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... |
ORPHA:2753 |
| Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Micrognathia, Apnea, Fibular hypoplasia, Arachnodactyly, Talipes equinovarus, Pa... |
OMIM:300373 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Chorioretinal hypopigmentation, Tachypnea, Chorioretinal atrophy |
ORPHA:415 |
| Charge Syndrome |
|
Bifid femur, Short thumb, Retinal coloboma, Lymphopenia, Micrognathia, Down-sloping shoulders, Ha... |
OMIM:214800 |
| Cocaine Intoxication |
|
Respiratory distress, Hyperventilation, Tachypnea |
ORPHA:90068 |
| Atrial Septal Defect, Ostium Primum Type |
|
Clubbing of toes, Tachypnea, Clubbing of fingers |
ORPHA:99106 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress |
ORPHA:31826 |
| Complete Atrioventricular Septal Defect |
|
Tachypnea, Intercostal retractions |
ORPHA:1329 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Hypoventilation |
OMIM:619482 |
| Congenital Tricuspid Valve Dysplasia |
|
Tachypnea |
ORPHA:555874 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Tachypnea |
ORPHA:137675 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Pancytopenia, Tachypnea |
OMIM:613658 |
| Pyruvate Carboxylase Deficiency |
|
Tachypnea |
ORPHA:3008 |
| Malignant Hyperthermia Of Anesthesia |
|
Tachypnea |
ORPHA:423 |
| Pulmonary Alveolar Microlithiasis |
|
Tachypnea, Stippled calcification in carpal bones, Clubbing of fingers |
ORPHA:60025 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Aspiration, Hypoventilation |
ORPHA:258 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Pedal edema |
ORPHA:2299 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia, Thickened Achilles tendon |
ORPHA:56 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Apnea, Hypoventilation, Hip dysplasia, Anemia, Optic disc pallor |
ORPHA:438213 |
| Exercise-Induced Malignant Hyperthermia |
|
Tachypnea, Thrombocytopenia |
ORPHA:466650 |
| Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Small hand, Finger clinodactyly, Micrognathia, Hypoventilation, Optic nerve hypoplasia |
OMIM:620455 |
| Scorpion Envenomation |
|
Tachypnea |
ORPHA:466677 |
| Truncus Arteriosus |
|
Aplasia/hypoplasia involving bones of the extremities, Hypoplasia of the thymus, Tachypnea |
ORPHA:3384 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Micrognathia, Hypersplenism, Splenomegaly, Hypoventilation, Thrombocytopenia |
ORPHA:731 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Micrognathia |
OMIM:220111 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Brachydactyly, Hypoventilation, Central hypoventilation |
ORPHA:293987 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation |
OMIM:203700 |
| Goodpasture Syndrome |
|
Anemia, Tachypnea |
OMIM:233450 |
