| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly |
OMIM:300484 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia, Recurrent aspirat... |
OMIM:258865 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Rec... |
OMIM:607143 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Joubert Syndrome 7 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:611560 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Epistaxis, Dyspnea, Cough, Polycythemia, Exertional dyspnea |
ORPHA:90042 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short ... |
OMIM:601559 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
| 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 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
| Joubert Syndrome 23 |
|
Polydactyly, Tachypnea, Apnea |
OMIM:616490 |
| Joubert Syndrome 30 |
|
Postaxial hand polydactyly, Tachypnea, Apnea, Retinal dystrophy |
OMIM:617622 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO |
OMIM:616414 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... |
ORPHA:356961 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... |
OMIM:300770 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Apnea, Broad hallux, Micrognathia, Short tibia, Tachypnea, Adactyly, Broad fir... |
ORPHA:2751 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia |
OMIM:620306 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Hy... |
ORPHA:232 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... |
ORPHA:36238 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo... |
OMIM:608940 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Patellar hyp... |
ORPHA:2257 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Respiratory insufficiency... |
ORPHA:848 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... |
OMIM:613320 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Metaph... |
OMIM:260400 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Tachypnea, Spherocytosis, Hep... |
ORPHA:71275 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
| Joubert Syndrome 9 |
|
Retinal dystrophy, Apnea, Episodic tachypnea |
OMIM:612285 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... |
ORPHA:96334 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Increased mean corpusc... |
OMIM:612561 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Apnea, Episodic tachypnea, Pigmentary retinopathy, Aspiration pneumonia, Retin... |
ORPHA:79264 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte... |
OMIM:263520 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
| Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
| Joubert Syndrome 3 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Pigmentary retinopathy, Neonatal breathing ... |
OMIM:608629 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Chorioretinal coloboma, Micrognathia |
ORPHA:163961 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory failure, Pulmonar... |
OMIM:265120 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Tachypnea, Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Throm... |
OMIM:614857 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Small hand, Short foot, Abnormal pattern of respiration |
ORPHA:3095 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Subretinal deposits, E... |
ORPHA:397715 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Camptodactyly of finger, Tachypnea, Respiratory failure, Talipes equinovarus, Inspiratory stridor... |
OMIM:604320 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia |
OMIM:300946 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Tachypnea, Anemia |
OMIM:615838 |
| Propionic Acidemia |
|
Pancytopenia, Apnea, Tachypnea, Anemia, Neutropenia, Thrombocytopenia |
OMIM:606054 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia |
ORPHA:464453 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... |
ORPHA:217563 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Microgna... |
ORPHA:2872 |
| Joubert Syndrome With Oculorenal Defect |
|
Apnea, Retinal dystrophy, Tachypnea, Hand polydactyly, Foot polydactyly, Chorioretinal coloboma |
ORPHA:2318 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Exertional dyspnea |
ORPHA:621 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Optic atrophy, Apnea, Central hypoventilation |
OMIM:618233 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231226 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Thrombocytopenia |
ORPHA:79242 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe |
ORPHA:765 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... |
ORPHA:231214 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Micrognathia, Microcytic anemia, Short toe, Talipes equinovarus, HbH hemoglobin |
ORPHA:98791 |
| Obesity-Hypoventilation Syndrome |
|
Hypoventilation |
OMIM:257500 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Respiratory insufficienc... |
OMIM:208500 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Tachypnea, Respiratory insufficien... |
OMIM:618278 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
| Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Retinal dystrophy, Episodic tachypnea, Postaxial hand polydacty... |
OMIM:213300 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
| Citrullinemia Type I |
|
Ankle clonus, Tachypnea |
ORPHA:247525 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Pes planus |
OMIM:617143 |
| Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
| Perry Syndrome |
|
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency |
OMIM:168605 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Breathing dysregulation |
OMIM:618232 |
| Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Dyspnea, Tachypnea, Anemia, Metaphyseal irregularity |
OMIM:239200 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Micrognathia, Recurrent pneumonia, Polydactyly, Asp... |
ORPHA:314655 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb... |
ORPHA:423479 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
| Acromelic Frontonasal Dysplasia |
|
Upper airway obstruction, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Ap... |
ORPHA:1827 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Thrombocytopenia, Hyperventilation |
OMIM:253270 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Episodic tachypnea |
OMIM:615160 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation, Respiratory insufficiency |
ORPHA:2942 |
| Campomelic Dysplasia |
|
Respiratory distress, Apnea, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossificatio... |
OMIM:114290 |
| Joubert Syndrome 2 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Abnormal foot morphology, Postaxial hand po... |
OMIM:608091 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Tachypnea, Leukopenia, Thrombocytosis, Lymphopenia, Anemia |
OMIM:615934 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
| Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
| Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
| Joubert Syndrome |
|
Apnea, Episodic tachypnea, Hand polydactyly, Foot polydactyly, Abnormal pattern of respiration |
ORPHA:475 |
| Rabin-Pappas Syndrome |
|
Hypoventilation, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Micrognathia... |
OMIM:620155 |
| Biotinidase Deficiency |
|
Optic atrophy, Splenomegaly, Tachypnea, Apnea |
OMIM:253260 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Recurrent pneumonia, Optic atrophy, Genu valgum, Finger joint h... |
OMIM:618493 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Cough, Leukemia |
ORPHA:99867 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Tetanus |
|
Respiratory distress, Tachypnea |
ORPHA:3299 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
| Coronary Arterial Fistula |
|
Orthopnea, Tachypnea, Pedal edema, Pulmonary arterial hypertension, Exertional dyspnea |
ORPHA:2041 |
| Arima Syndrome |
|
Retinal dystrophy, Dyspnea, Postaxial hand polydactyly, Tachypnea, Optic atrophy, Postaxial foot ... |
OMIM:243910 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea, Optic atrophy, Hepatosplenomegaly, Overlapping fing... |
ORPHA:79330 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Abnormality of the knee, Re... |
ORPHA:98915 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Micrognathia, Central Y-shaped meta... |
ORPHA:2754 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Tachypnea |
OMIM:201475 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hand clenching, Hypoventilation, Overlapping fingers, Optic atrophy |
OMIM:606056 |
| Bethlem Myopathy |
|
Hypoventilation, Reduced maximal expiratory pressure, Camptodactyly of finger, Interphalangeal jo... |
ORPHA:610 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Micrognathia, Absent thumb, Erythroid hypoplasia, ... |
ORPHA:124 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Short thumb, Ab... |
OMIM:105650 |
| Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Exertional dyspnea,... |
ORPHA:99106 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Pneumonia, Abnormality of the lower limb, Tachypnea, Increased c... |
ORPHA:36234 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Pes planus, Hypoventilation, Abnormal foot morphology, Optic atrophy, Respiratory insufficiency, ... |
ORPHA:99949 |
| Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Tachypnea, Cough |
ORPHA:134 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Leukocytosis, Tachypnea, Leukopenia, Thrombocytosis, Anemia |
ORPHA:20 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Micrognathia |
OMIM:617101 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
| Lead Poisoning |
|
Asthma, Imbalanced hemoglobin synthesis, Abnormal respiratory system physiology, Abnormal T cell ... |
ORPHA:330015 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Optic atrophy, Talipes equinovarus, Clinodactyly of the 5th finger, Anemia, ... |
ORPHA:847 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Retinal infarction, Tachypnea |
OMIM:613834 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Absent frontal sinuses, Coxa valga, Reduced alpha/beta synthesis ratio, Hypochrom... |
OMIM:301040 |
| Cholera |
|
Palmoplantar cutis laxa, Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Tachypnea |
ORPHA:860 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Knee contracture |
OMIM:620275 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Recurrent pneumonia |
OMIM:619769 |
| Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Retinal coloboma, Rod-cone dystrophy, Neonatal breathing dysre... |
OMIM:610188 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
| Prader-Willi Syndrome |
|
Hypoventilation, Syndactyly, Acromicria, Small hand, Genu valgum, Short foot, Hip dysplasia, Radi... |
OMIM:176270 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Double Outlet Right Ventricle |
|
Tachypnea |
ORPHA:3426 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation |
ORPHA:90068 |
| Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Apnea, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hyp... |
OMIM:300373 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure,... |
ORPHA:258 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Chorioretinal hypopigmentation, Tachypnea, Chorioretinal atrophy |
ORPHA:415 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema, Anemia |
OMIM:613658 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... |
OMIM:218330 |
| Kinsship Syndrome |
|
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... |
OMIM:619297 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Micrognathia, Pneumothorax, Humeroradial s... |
ORPHA:3404 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Tachypnea |
OMIM:615751 |
| Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exertional dy... |
OMIM:233450 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
| Malignant Hyperthermia Of Anesthesia |
|
Tachypnea, Hypercapnia |
ORPHA:423 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
| Histiocytoid Cardiomyopathy |
|
Tachypnea, Optic atrophy, Cough |
ORPHA:137675 |
| Pyruvate Carboxylase Deficiency |
|
Tachypnea, Abnormal pattern of respiration |
ORPHA:3008 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Asthma, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Aspiration p... |
ORPHA:444077 |
| Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia, Tachypnea, Crackles, Hypocapnia |
ORPHA:466650 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Pedal edema, Exertional dyspnea |
ORPHA:2299 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Hypersplenism, Splenomegaly, Recurrent p... |
ORPHA:731 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Optic disc pallor, Apnea, Breathing dysregulation, Hip dysplasia, Aspiration pne... |
ORPHA:438213 |
| Double Outlet Left Ventricle |
|
Tachypnea |
ORPHA:3427 |
| Scorpion Envenomation |
|
Abnormal nasal mucus secretion, Tachypnea |
ORPHA:466677 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Central hypoventilation, Asthma, Cardiorespiratory arrest, Brachydactyly |
ORPHA:293987 |
| Truncus Arteriosus |
|
Tachypnea, Hypoplasia of the thymus, Aplasia/hypoplasia involving bones of the extremities |
ORPHA:3384 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tracheomalacia, Hypoventilation |
OMIM:203700 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Micrognathia |
OMIM:220111 |
