| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... |
ORPHA:93405 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... |
OMIM:249700 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... |
OMIM:127300 |
| Fibular Hemimelia |
|
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... |
ORPHA:93323 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia |
OMIM:246570 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... |
ORPHA:1972 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... |
OMIM:605274 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... |
OMIM:612447 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... |
OMIM:135750 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... |
OMIM:201170 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Respiratory distress, Retinal detachment, Short... |
OMIM:607143 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Anemia, Abnorma... |
ORPHA:3344 |
| Orofaciodigital Syndrome Ix |
|
Camptodactyly, Retinal coloboma, Hand polydactyly, Toe syndactyly, Short tibia |
OMIM:258865 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... |
OMIM:258860 |
| Joubert Syndrome 7 |
|
Genu valgum, Retinal dystrophy, Postaxial hand polydactyly, Postaxial polydactyly, Tachypnea, Cen... |
OMIM:611560 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
| Microphthalmia With Limb Anomalies |
|
Sandal gap, Tibial bowing, Short long bone, Broad thumb, Hip dislocation, Optic atrophy, Fibular ... |
ORPHA:1106 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Blount Disease |
|
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabulum morphology, Epiphyseal d... |
ORPHA:79106 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Slc35A2-Cdg |
|
Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Metatarsus adductus, Camptod... |
ORPHA:356961 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi... |
OMIM:251230 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Joubert Syndrome 23 |
|
Polydactyly, Tachypnea, Apnea |
OMIM:616490 |
| Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Finger clinodactyly, Cone-shaped epiphyses of the pha... |
ORPHA:2751 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... |
ORPHA:2378 |
| Joubert Syndrome 30 |
|
Tachypnea, Apnea, Postaxial hand polydactyly, Retinal dystrophy |
OMIM:617622 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Rhizomelia, Small epiphyses, Delayed epiphyseal ossification, Di... |
ORPHA:166016 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor... |
OMIM:620076 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Vertebral ... |
ORPHA:56305 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Short tibia, Talipes equinovarus, Respiratory distress |
OMIM:620306 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Chronic Pneumonitis Of Infancy |
|
Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress |
ORPHA:91359 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... |
ORPHA:1988 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short ribs, F... |
OMIM:616300 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho... |
OMIM:613091 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:300946 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... |
OMIM:227270 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal cupping, Short long ... |
OMIM:613320 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, Finger syndactyl... |
ORPHA:3320 |
| Rh Deficiency Syndrome |
|
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... |
ORPHA:71275 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow greater sciatic notch, Anemia, Acute myeloid leukemia, Metaphyseal sclerosis, Pancytopenia... |
OMIM:260400 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ... |
OMIM:119800 |
| Joubert Syndrome 9 |
|
Episodic tachypnea, Apnea, Retinal dystrophy |
OMIM:612285 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Retinal dystrophy, Postaxial polysyndactyly of foot, Sh... |
OMIM:263520 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Retinal atrophy, Femoral bowing, Tibial bowing, Short long bone, Sh... |
OMIM:608940 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared metaphysis, Tibial bowing,... |
OMIM:602111 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri... |
ORPHA:96334 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Omodysplasia 1 |
|
Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Increased fibular diameter, Limit... |
OMIM:258315 |
| Respiratory Distress Syndrome In Premature Infants |
|
Tachypnea, Respiratory distress |
OMIM:267450 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Pigmentary retinopathy, Optic disc pallor, Apnea, Retinal degeneration, Episodic tachypnea |
ORPHA:79264 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
| Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
OMIM:612561 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Retinal dystrophy, Early ossification of capital femoral epiphyses, Ap... |
ORPHA:397715 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... |
OMIM:206920 |
| Propionic Acidemia |
|
Anemia, Pancytopenia, Apnea, Thrombocytopenia, Tachypnea, Neutropenia |
OMIM:606054 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Mesomelia, Radial bowing, Lateral humeral condyle ... |
OMIM:164900 |
| Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Micrognathia, Thrombocytopenia, Tachypnea, Neutropenia |
OMIM:614857 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Respiratory distress |
OMIM:263000 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Micrognathia, Apneic episodes in infancy, Chorioretinal coloboma, Episodic tachypnea |
ORPHA:163961 |
| Joubert Syndrome 3 |
|
Episodic tachypnea, Retinal dystrophy, Central apnea, Pigmentary retinopathy |
OMIM:608629 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Plantar flexion contracture, Slender finger, Micrognathia, Cutaneous syndactyly of toes, Contract... |
ORPHA:2872 |
| Joubert Syndrome With Oculorenal Defect |
|
Retinal dystrophy, Foot polydactyly, Hand polydactyly, Apnea, Chorioretinal coloboma, Tachypnea |
ORPHA:2318 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation |
OMIM:619483 |
| Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Mesomelic l... |
OMIM:603671 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Short foot, Episodic tachypnea, Small hand |
ORPHA:3095 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Tachypnea, Anemia, Optic disc pallor |
OMIM:615838 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Calcaneal epi... |
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, Micrognathia, Short toe, Microcytic anemia, Talipes equinovarus |
ORPHA:98791 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Pes cavus, Coxa valga, Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea |
OMIM:620203 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Tachypnea, Respiratory distress |
OMIM:614299 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... |
OMIM:618150 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Respiratory distress |
ORPHA:79242 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... |
ORPHA:1788 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Finger dacty... |
ORPHA:232 |
| Primary Pulmonary Hypoplasia |
|
Tachypnea, Apnea, Patellar hypoplasia, Micrognathia |
ORPHA:2257 |
| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... |
OMIM:108720 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dysplasia, Pancytopen... |
OMIM:617052 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... |
ORPHA:958 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Respiratory distress |
ORPHA:264675 |
| Dominant Beta-Thalassemia |
|
Genu valgum, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231226 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
| Citrullinemia Type I |
|
Tachypnea, Ankle clonus |
ORPHA:247525 |
| Joubert Syndrome 1 |
|
Retinal dystrophy, Retinal dysplasia, Postaxial hand polydactyly, Clinodactyly, Postaxial foot po... |
OMIM:213300 |
| Pyruvate Dehydrogenase Deficiency |
|
Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe |
ORPHA:765 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Genu valgum, Hypochromic microcytic anemia, Decreased mean corpuscular hemog... |
ORPHA:231214 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Talipes equinovarus |
OMIM:604320 |
| High Altitude Pulmonary Edema |
|
Tachypnea, Leukocytosis |
ORPHA:330012 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Leukocytosis, Neutrophilia, Leukopenia, Tachypnea |
ORPHA:36238 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Sho... |
OMIM:228520 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Methemoglobinemia |
ORPHA:464453 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Pes planus, Apnea |
OMIM:617143 |
| Occipital Horn Syndrome |
|
Abnormal fibula morphology, Humerus varus, Genu valgum, Large iliac wing, Abnormal pubic bone mor... |
ORPHA:198 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelic arm shorte... |
OMIM:164745 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Leukopenia, Lymphopenia, Tachypnea, Thrombocytosis |
OMIM:615934 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Hypoventilation, Respiratory distress, Micrognathia, Apnea |
ORPHA:314655 |
| Recurrent Respiratory Papillomatosis |
|
Tachypnea, Respiratory distress |
ORPHA:60032 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Nasal flaring |
ORPHA:70587 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia |
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 |
|
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... |
OMIM:208500 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
| Avian Influenza |
|
Respiratory distress, Thrombocytopenia, Leukopenia, Lymphopenia, Tachypnea |
ORPHA:454836 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Joubert Syndrome 2 |
|
Abnormal foot morphology, Retinal dystrophy, Postaxial hand polydactyly, Postaxial foot polydacty... |
OMIM:608091 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt... |
OMIM:618278 |
| Mogs-Cdg |
|
Optic atrophy, Hypoventilation, Respiratory distress, Apnea, Thrombocytopenia, Hepatosplenomegaly... |
ORPHA:79330 |
| Acute Lung Injury |
|
Tachypnea, Respiratory distress |
ORPHA:178320 |
| Hyperparathyroidism, Neonatal Severe |
|
Tachypnea, Anemia, Splenomegaly, Metaphyseal irregularity |
OMIM:239200 |
| Diamond-Blackfan Anemia 1 |
|
Hypoplasia of the radius, Elevated red cell adenosine deaminase activity, Hypoplastic coccygeal v... |
OMIM:105650 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor... |
OMIM:114290 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Tachypnea |
OMIM:300770 |
| N-Acetylglutamate Synthase Deficiency |
|
Tachypnea, Respiratory distress |
OMIM:237310 |
| Biotinidase Deficiency |
|
Optic atrophy, Tachypnea, Apnea, Splenomegaly |
OMIM:253260 |
| Tetanus |
|
Tachypnea, Respiratory distress |
ORPHA:3299 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... |
ORPHA:2879 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Split hand, Rudimentary to absent tibiae, Missi... |
OMIM:200980 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Intermittent hyperventilation, Apneic episodes in infancy, Episodic tachypnea, Respiratory distress |
ORPHA:348 |
| Acute Interstitial Pneumonia |
|
Tachypnea, Reduced hematocrit |
ORPHA:79126 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Hand ... |
ORPHA:2754 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus |
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, Hypoventilation, Genu valgum, Hip contracture, Finger joint hypermobility |
OMIM:618493 |
| Rabin-Pappas Syndrome |
|
Hypoventilation, Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Micrognathia |
OMIM:620155 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t... |
ORPHA:140 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Clubbing, Tachypnea, Apnea |
OMIM:265120 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anemia, Leukocytosis, Apnea, Leukopenia, Tachypnea, Thrombocytosis |
ORPHA:20 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of h... |
OMIM:236680 |
| Arima Syndrome |
|
Optic atrophy, Anemia, Retinal dystrophy, Postaxial hand polydactyly, Chorioretinal coloboma, Tac... |
OMIM:243910 |
| Joubert Syndrome |
|
Foot polydactyly, Hand polydactyly, Apnea, Episodic tachypnea |
ORPHA:475 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Optic atrophy, Hand clenching, Hypoventilation, Overlapping fingers |
OMIM:606056 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Anemia, Clinodactyly of the 5th finger, Abnormal hemoglobin, Brachydactyly, Talipe... |
ORPHA:847 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Talipes equinovarus, R... |
OMIM:301040 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Achilles tendon contract... |
OMIM:310200 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Tachypnea, Respiratory distress |
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, Throm... |
ORPHA:36234 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Tachypnea, Episodic tachypnea, Respiratory distress |
ORPHA:26793 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... |
ORPHA:3144 |
| Bethlem Muscular Dystrophy |
|
Hypoventilation, Ankle flexion contracture, Curved toe phalanx, Camptodactyly of finger, Interpha... |
ORPHA:610 |
| Cholera |
|
Tachypnea, Palmoplantar cutis laxa, Hyperventilation |
ORPHA:173 |
| Beta-Ketothiolase Deficiency |
|
Tachypnea, Thrombocytosis, Leukocytosis |
ORPHA:134 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Nocturnal hypoventilation, Apnea, 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 |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Clubbing, Tachypnea, Apnea, Respiratory distress |
OMIM:610921 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation |
ORPHA:2942 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Pes cavus, Hypoventilation, Abnormal foot morphology, Hammertoe, Abnormal optic ne... |
ORPHA:99949 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea |
ORPHA:542323 |
| Synaptic Congenital Myasthenic Syndromes |
|
Talipes equinovarus, Hypoventilation, Abnormality of the knee, Respiratory distress |
ORPHA:98915 |
| Prader-Willi Syndrome |
|
Hypoventilation, Acromicria, Radial deviation of finger, Genu valgum, Short foot, Short palm, Syn... |
OMIM:176270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Knee contracture |
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 |
|
Tachypnea, Clubbing, Respiratory distress |
OMIM:610913 |
| Smooth Muscle Dysfunction Syndrome |
|
Retinal infarction, Tachypnea |
OMIM:613834 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
| Joubert Syndrome 5 |
|
Rod-cone dystrophy, Central apnea, Episodic tachypnea, Retinal coloboma |
OMIM:610188 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Retinal dystrophy, Broad toe, Triphal... |
OMIM:218330 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Short ribs, Short metacarpal, Tibial bowing, Broad thumb, Pos... |
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 |
|
Hypoventilation, Distal lower limb muscle weakness, Knee flexion contracture, Absent patellar ref... |
ORPHA:70 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A... |
ORPHA:2753 |
| Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... |
OMIM:300373 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Chorioretinal hypopigmentation, Tachypnea, Chorioretinal atrophy |
ORPHA:415 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Absent tibia, Retinal coloboma, Hand monodactyly, Bilateral talipes equin... |
OMIM:214800 |
| Cocaine Intoxication |
|
Hyperventilation, Tachypnea, Respiratory distress |
ORPHA:90068 |
| Atrial Septal Defect, Ostium Primum Type |
|
Tachypnea, Clubbing of toes, 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 |
|
Hypoventilation, Apnea, Hypopnea |
OMIM:619482 |
| Congenital Tricuspid Valve Dysplasia |
|
Tachypnea |
ORPHA:555874 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Tachypnea |
ORPHA:137675 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Anemia, Pancytopenia |
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 |
|
Hypoventilation, Aspiration |
ORPHA:258 |
| Aortic Arch Interruption |
|
Tachypnea, Pedal edema, Respiratory distress |
ORPHA:2299 |
| Alkaptonuria |
|
Thickened Achilles tendon, Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Anemia, Apnea, Hip dysplasia, 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 |
|
Hypoventilation, Optic nerve hypoplasia, Micrognathia, Finger clinodactyly, Small hand |
OMIM:620455 |
| Scorpion Envenomation |
|
Tachypnea |
ORPHA:466677 |
| Truncus Arteriosus |
|
Aplasia/hypoplasia involving bones of the extremities, Tachypnea, Hypoplasia of the thymus |
ORPHA:3384 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Micrognathia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Hypersplenism |
ORPHA:731 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Micrognathia |
OMIM:220111 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Brachydactyly |
ORPHA:293987 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation |
OMIM:203700 |
| Goodpasture Syndrome |
|
Tachypnea, Anemia |
OMIM:233450 |
