| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Upper airway obstruction, Cle... |
OMIM:261800 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Micrognathia, Upper airway obstruction, Cleft palate, Glossoptosis |
ORPHA:718 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Bamforth-Lazarus Syndrome |
|
Retrognathia, Choanal atresia, Cleft palate |
ORPHA:1226 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Micrognathia, Dyspnea, Depressed nasal ridge, Gingival fi... |
ORPHA:1832 |
| Perching Syndrome |
|
Respiratory distress, Depressed nasal bridge, High palate, Camptodactyly, Joint contracture |
OMIM:617055 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Micrognathia, Cleft upper lip, Un... |
OMIM:608572 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:311895 |
| Bamforth-Lazarus Syndrome |
|
Bilateral choanal atresia, Cleft palate |
OMIM:241850 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Choanal atre... |
ORPHA:2759 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Dental crowding, Apnea, Micrognathia, Narrow mouth, Temporomandibular joint... |
OMIM:614669 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Choanal Atresia And Lymphedema |
|
High palate, Choanal atresia |
OMIM:613611 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
| Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Respiratory insufficiency, Macroglossi... |
ORPHA:1914 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Gingival overgrowth, Redu... |
ORPHA:561 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Distal Duplication 18Q |
|
Abnormal dental morphology, Camptodactyly of finger, Anteverted nares, Micrognathia, Carious teet... |
ORPHA:1716 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Hyposmia |
OMIM:147950 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Joint stiffness, Micrognathia, Respiratory insufficiency, Down... |
ORPHA:1895 |
| Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Resp... |
ORPHA:207 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Short nose, Bilateral choa... |
ORPHA:1200 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Depressed nasal bridge, Choanal atresia, Hypoplasia of th... |
OMIM:101600 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Generalized osteosclerosis, Micrognathia |
ORPHA:1423 |
| Osteoglosphonic Dysplasia |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Tooth agenesis, Multiple uneru... |
ORPHA:2645 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia,... |
ORPHA:2409 |
| Antley-Bixler Syndrome |
|
Anteverted nares, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger... |
ORPHA:83 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bifid nasal tip, Bilateral cleft lip and palate, High palate, Enamel hy... |
OMIM:618874 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
| Kinsship Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Death in infancy, Micrognathia, Bulb... |
OMIM:619297 |
| 2Q24 Microdeletion Syndrome |
|
Central apnea, Camptodactyly of finger, Cleft palate, Abnormal oral frenulum morphology, Short ph... |
ORPHA:1617 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Gracile Bone Dysplasia |
|
Death in infancy, Decreased skull ossification, Ankyloglossia |
OMIM:602361 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Choanal atresia, Cleft upper lip, High, narrow palate, Depressed nasal ridge, Cleft palate, Joint... |
OMIM:607597 |
| Adducted Thumbs Syndrome |
|
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in... |
OMIM:201550 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Respir... |
ORPHA:66637 |
| Orofacial Cleft 13 |
|
Oligodontia, Retrognathia, Cleft soft palate, Micrognathia |
OMIM:613857 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
| Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone... |
OMIM:300244 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
| Anophthalmia Plus Syndrome |
|
Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... |
ORPHA:1104 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Death in infancy, Depressed n... |
OMIM:259775 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia... |
ORPHA:1555 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Micrognathia, Cleft hard palate, Broad nasal tip, Delayed epiphyseal ossification, Knee flexion c... |
ORPHA:166016 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Narrow mou... |
OMIM:612776 |
| Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Abnormality of the dentition, Cleft palate, Micrognathia |
ORPHA:3104 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Underde... |
OMIM:311200 |
| Pai Syndrome |
|
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Anteverted nares, Craniosynostosis, Micrognathia, Cleft lip, Tracheoesophageal fistu... |
ORPHA:2745 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... |
ORPHA:2907 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Ch... |
OMIM:123790 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Non-midline cleft lip, Bone cyst, Wide na... |
ORPHA:1752 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta... |
OMIM:619227 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... |
ORPHA:521308 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Respiratory insufficiency, Convex nasal ridge, Abnorm... |
ORPHA:93262 |
| Orofaciodigital Syndrome Xix |
|
Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Carious ... |
OMIM:620107 |
| Chromosome 22Q11.2 Duplication Syndrome |
|
Depressed nasal ridge, Velopharyngeal insufficiency, High palate, Micrognathia |
OMIM:608363 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Camptodactyly of finger, Choanal atresia, Prominent nasal bridge, Under... |
ORPHA:261330 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Arthrogryposis multiplex congenita, Prominent nasal bridge, Choanal atresia, Micrognathia |
OMIM:615095 |
| Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Submucous cleft hard palate, Synovitis, Hyperextensibility at wrists, Fin... |
OMIM:601492 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Limitation... |
ORPHA:93259 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Convex nasal ridge, Cleft palate |
OMIM:600252 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Deep p... |
OMIM:610536 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... |
OMIM:619950 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Cleft palate, Glossoptosis, Joint hyperfl... |
ORPHA:1388 |
| Acrocraniofacial Dysostosis |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Prominent nasal bridge, Cleft ... |
ORPHA:949 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, Depressed nasal ... |
ORPHA:1791 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Dental crowding, Anteverted nares, Depressed nasal bridge, Persistence ... |
ORPHA:97360 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Hy... |
OMIM:613717 |
| Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia |
ORPHA:99772 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Dental crowding, Narrow palate, Thick vermilion border, High... |
OMIM:616078 |
| Whistling Face Syndrome, Recessive Form |
|
Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Tr... |
OMIM:277720 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Narrow mou... |
OMIM:202650 |
| Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Everted lower lip vermilion |
ORPHA:2316 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Micrognathia, Car... |
OMIM:620186 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Tracheoesophageal ... |
OMIM:619859 |
| Sweeney-Cox Syndrome |
|
Choanal atresia, Micrognathia, Broad nasal tip, Underdeveloped nasal alae, Velopharyngeal insuffi... |
OMIM:617746 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, E... |
OMIM:619110 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Osteoarthritis, Cleft palate, Glossoptosis, Long philtrum |
ORPHA:166100 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Choanal atresia, Craniosynostosis |
OMIM:612247 |
| Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Micrognathia, Underdeveloped nasal a... |
OMIM:619941 |
| Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Conical tooth, Hypodontia, Anal atresia |
OMIM:119580 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Limitation... |
ORPHA:93260 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Prominent nasal bridge, Choanal atresia, Cleft palate, High palate, Retrognathia |
ORPHA:52055 |
| Fg Syndrome Type 1 |
|
Limited elbow extension and supination, Dental crowding, Progressive flexion contractures, Abnorm... |
ORPHA:93932 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex... |
ORPHA:87 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Respiratory distress, Depressed nasal bridge, Choanal atresia, Abnormality of the d... |
OMIM:300968 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Prominent nasal bridge, Choanal atresia, Recurrent pneumonia, High palate, Retrognathia, Recurren... |
OMIM:300472 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| 1Q21.1 Microdeletion Syndrome |
|
Bulbous nose, Wide nasal bridge, Joint hyperflexibility, High palate, Long philtrum, Ankyloglossia |
ORPHA:250989 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
| Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Depressed nasal bridge, Anteverted nares, Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Choanal atresia, Lip pit, Micrognathia, Joint stiffness, Non-midline cl... |
ORPHA:1300 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
| Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... |
OMIM:618779 |
| Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia... |
OMIM:158170 |
| Mesomelia-Synostoses Syndrome |
|
Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Joint stiffness, Bulbous nose... |
ORPHA:2496 |
| Orofaciodigital Syndrome Ix |
|
Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Broad nasal tip, Bifid n... |
OMIM:258865 |
| Marcus-Gunn Syndrome |
|
Cleft lip, Choanal atresia, Cleft palate, Abnormality of the sense of smell |
ORPHA:91412 |
| Kilquist Syndrome |
|
Mandibular prognathia, Intestinal malrotation, Choanal atresia, Midgut malrotation, Xerostomia, H... |
OMIM:619080 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Choanal atresia, Micrognathia, Abnormality of the dentition, Hi... |
ORPHA:2108 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Joint laxity, Hip contracture, Cleft palate, Knee flexion contracture, Downtur... |
ORPHA:488642 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Apnea, Micrognathia, Narrow mouth, Ankylosis, Dental malocclusion, Cleft palate,... |
OMIM:602483 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
| Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Esophageal stricture, Flexion contracture, Narr... |
ORPHA:89842 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Choanal atresia, Micr... |
OMIM:619148 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of t... |
ORPHA:137888 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Choanal stenosis,... |
OMIM:101200 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Depressed nasal bridge, Joint ... |
ORPHA:166272 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Abnormal dental enamel... |
ORPHA:2750 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Abnormal mandible morp... |
ORPHA:3201 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Choanal atresia, Micrognathia, Knee flexion contracture, Choanal ste... |
OMIM:156400 |
| Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thick nasal alae, Anteverted nares, Depressed n... |
ORPHA:2067 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Choanal atresia, Osteoporosis, Cleft palate, Esophagitis |
OMIM:612562 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Anteverted nares, Micrognathia, Abn... |
OMIM:616331 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Humeroradial synostosis, Flexion... |
OMIM:207410 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... |
OMIM:106260 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De... |
ORPHA:99742 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Carious teeth, High, n... |
OMIM:615873 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Choanal... |
ORPHA:2658 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg... |
ORPHA:3241 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Micro... |
ORPHA:404440 |
| Stickler Syndrome, Type Ii |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Pierre-Robin sequenc... |
OMIM:604841 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Micrognathia, Abnormality of the dentition, Broad nasal tip,... |
OMIM:618529 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste... |
ORPHA:88630 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Coronal cranios... |
OMIM:241310 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Respiratory distress, Anteverted na... |
OMIM:166250 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Absent cupid's bow, Short ... |
ORPHA:284169 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, D... |
ORPHA:2753 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Large sternal ossification centers, Apnea, Anteriorly placed anus, Glossopto... |
OMIM:602535 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Multiple joint contractures, Dental crowding, Intestinal malrotation, Choanal atre... |
OMIM:305450 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Wide mouth, Widely spaced teeth, Respiratory distress, Micrognathia |
OMIM:300934 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Neonatal respiratory distress, Prominent nasal bridge, M... |
OMIM:618356 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Choanal stenosis, Depressed nasal bridge, Choanal atresia |
OMIM:179270 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Cleft upper lip, Anosmia, Pr... |
OMIM:147250 |
| Postaxial Acrofacial Dysostosis |
|
Choanal atresia, Conical tooth, Micrognathia, Pyloric stenosis, Midgut malrotation, Cleft upper l... |
OMIM:263750 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxill... |
ORPHA:178303 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m... |
ORPHA:329178 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Multiple prenatal fractures, Flexion contracture, High palate |
OMIM:271225 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia |
OMIM:615706 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Choanal atresia, Cleft palate, Micrognathia |
OMIM:613309 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Choanal atresia, Mi... |
OMIM:151050 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsorption, Oro... |
ORPHA:92050 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Camptodactyly, Neonatal death, Pulmonary ... |
OMIM:619751 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, High palate, Neonatal death, Retrognathia, Joint hypermob... |
OMIM:300219 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Micrognathia, Underdeveloped nasal alae, Supernumerary tooth, Osteoporosis, Concave na... |
OMIM:619525 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
| Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... |
OMIM:604757 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Anteverted nares, Joint hypermobility, Prominent... |
OMIM:619841 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Anteverted nares, Depressed na... |
ORPHA:314655 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Choanal atresia, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:270420 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia |
OMIM:616462 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexion contracture, Submucou... |
OMIM:222765 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
| Moebius Syndrome |
|
Respiratory distress, Abnormal nasopharynx morphology, Depressed nasal bridge, Abnormality of the... |
OMIM:157900 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Bulbous nose, Pierre-Robin sequence, Wi... |
OMIM:613604 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, High, narr... |
OMIM:608799 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Thick nasal alae, Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Short phi... |
ORPHA:293725 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Glossop... |
OMIM:620269 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Anteverted nares, Limited elbow movement, Micrognathia, Limited knee flexion, Bul... |
OMIM:615065 |
| Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Micrognathia, Respiratory insuf... |
ORPHA:1143 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Thin vermilion border, Short... |
ORPHA:261304 |
| Myopathy, Centronuclear, 5 |
|
Hip contracture, Micrognathia, Respiratory insufficiency, High palate, Narrow mouth, Retrognathia... |
OMIM:615959 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Sagittal... |
ORPHA:2872 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Abno... |
ORPHA:93346 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposmia |
OMIM:614838 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Anal fissure, Oral mucosal blisters, ... |
ORPHA:79408 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia |
ORPHA:596 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... |
ORPHA:884 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Hypoplasia of th... |
OMIM:252100 |
| Orofaciodigital Syndrome Xviii |
|
Prominent nasal bridge, Accessory oral frenulum, Diastema, Cleft lip, Wide nasal bridge, Short ph... |
OMIM:617927 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip ... |
ORPHA:2707 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Aplasia/Hypoplasia involving the nose, Absent nares, Narrow mouth, Mandibul... |
ORPHA:990 |
| Bnar Syndrome |
|
Anteriorly placed anus, Anal stenosis, Short lingual frenulum, Bifid nose |
ORPHA:217266 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, A... |
ORPHA:293939 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft pal... |
ORPHA:1790 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Ch... |
OMIM:275210 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... |
ORPHA:2712 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Micrognathia, Accessory oral frenulum, Cleft palate, Lobulated tongue, High ... |
OMIM:258860 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
| Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal synostos... |
ORPHA:2756 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Macroglossia, Abse... |
ORPHA:226313 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Thin upper lip vermilion, Osteomyelitis, Anteverted nares, High, narrow palate, Sho... |
OMIM:619475 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower li... |
OMIM:300602 |
| Esophageal Atresia |
|
Respiratory distress, Barrett esophagus, Intestinal malrotation, Choanal atresia, Pyloric stenosi... |
ORPHA:1199 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Bro... |
ORPHA:438216 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Respiratory distress, Tented upper lip vermilion, Anteverted nares, Flexion ... |
OMIM:619383 |
| Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Ant... |
OMIM:122470 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
| Supernumerary Nostril |
|
Supernumerary naris, Choanal atresia |
ORPHA:141096 |
| Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Wide anterior fontanel, Bilateral cleft lip and palate, Micrognathia |
OMIM:619339 |
| Myasthenic Syndrome, Congenital, 10 |
|
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity |
OMIM:254300 |
| Solar Urticaria |
|
Dyspnea, Abnormal lip morphology, Abnormal tongue morphology, Wheezing |
ORPHA:97230 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Radio-Renal Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, High, narrow palate, Dyspnea, Downtur... |
ORPHA:3015 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Choanal atresia, Reduced forced expiratory volume in one second, Short philtrum, Camptodactyly, L... |
OMIM:613385 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard palate, Wide nasal brid... |
OMIM:618106 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Bifid uvula, Cleft palate, Micrognathia |
OMIM:606164 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... |
ORPHA:60032 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral cle... |
OMIM:619122 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Micrognathia, Unilateral alveolar clef... |
ORPHA:2751 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Birk-Barel Syndrome |
|
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft ... |
OMIM:612292 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Anal stenosis, Micrognathia, Hypoplasia of the maxilla, Bilatera... |
ORPHA:314679 |
| Schilbach-Rott Syndrome |
|
Prominent nose, Micrognathia, Long nose, Submucous cleft hard palate, Narrow mouth, Bifid uvula |
OMIM:164220 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure |
OMIM:613435 |
| Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Mi... |
OMIM:217980 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Methimazole Embryofetopathy |
|
Esophageal atresia, Choanal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Micrognathia, Furrowed tongue, High palate, Short philtrum, Everted lower... |
ORPHA:1387 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Carious teeth, Trismus, Dyspne... |
OMIM:272430 |
| Pallister-Hall Syndrome |
|
Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Short no... |
OMIM:146510 |
| Meier-Gorlin Syndrome 7 |
|
Joint laxity, Anal stenosis, Choanal atresia, Sagittal craniosynostosis, Craniosynostosis, Wide a... |
OMIM:617063 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
| Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia |
OMIM:614526 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum, Over... |
OMIM:619142 |
| Arthrogryposis, Distal, Type 3 |
|
Decreased hip abduction, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Clef... |
OMIM:114300 |
| Holoprosencephaly |
|
Aplasia/Hypoplasia involving the nose, Median cleft lip, Anteverted nares, Bilateral cleft lip, C... |
ORPHA:2162 |
| Orofaciodigital Syndrome Type 6 |
|
Apnea, Prominent nasal bridge, Hamartoma of tongue, Micrognathia, Broad nasal tip, Episodic tachy... |
ORPHA:2754 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Bilateral Perisylvian Polymicrogyria |
|
Apnea, Choanal atresia, Protruding tongue, Micrognathia, Flexion contracture, Distal arthrogrypos... |
ORPHA:98889 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cleft palate, Hypoplasia of teeth, High... |
OMIM:603457 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Short nose |
ORPHA:79113 |
| W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
| Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Abnormality of the denti... |
ORPHA:261112 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid glan... |
OMIM:154500 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Choanal atresia |
OMIM:613970 |
| Rere-Related Neurodevelopmental Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia |
ORPHA:494344 |
| Recombinant 8 Syndrome |
|
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Cleft upper lip, Micrognathia,... |
ORPHA:96167 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Short uvula, Submucous cleft hard palate, Downturned cor... |
OMIM:619539 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Respiratory distress, Respiratory failure, High palate, ... |
OMIM:620278 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge |
OMIM:617127 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Cleft palate, Restrictive ve... |
OMIM:183900 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Choanal atresia, Micrognathia, Cleft upper lip, Long nose, Deep philtru... |
OMIM:251260 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607748 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Sagittal craniosyn... |
OMIM:610199 |
| Chitayat Syndrome |
|
Respiratory distress, Anteverted nares, Depressed nasal bridge, Short columella, Thick vermilion ... |
OMIM:617180 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bulbous nose, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Knee flexion contracture |
ORPHA:496689 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Choanal stenosis, Cleft soft palate |
OMIM:620183 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Death in infancy, Respiratory distress, Osteoporosis, Delayed ossifica... |
OMIM:184260 |
| Trisomy 18 |
|
Microretrognathia, Camptodactyly of finger, Choanal atresia, Esophageal atresia, Non-midline clef... |
ORPHA:3380 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
| Faciocardiomelic Dysplasia, Lethal |
|
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia |
OMIM:227270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, High palate, Inspiratory stridor,... |
OMIM:604377 |
| Stickler Syndrome, Type I |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Joint stiffness, Osteoarthritis, Pierre-R... |
OMIM:108300 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition |
OMIM:193100 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Depressed nasal bridge, Osteomalacia, Hiatus hernia, Micrognathia, Joint stiffness, O... |
ORPHA:1901 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Depressed nasal bridge, Micrognathia, Cleft palate, Microglos... |
OMIM:241800 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, De... |
OMIM:301044 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Prominent nose, Abnormal periodontium morphology, High palate, ... |
ORPHA:480880 |
| C Syndrome |
|
Fused sternal ossification centers, Anteverted nares, Accessory oral frenulum, Micrognathia, Wide... |
OMIM:211750 |
| Hydrolethalus |
|
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormality of the sense... |
ORPHA:2189 |
| Native American Myopathy |
|
Joint laxity, Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth,... |
ORPHA:168572 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Anteriorly placed anus, Choanal stenosis, Elbow ankylos... |
ORPHA:95699 |
| Joubert Syndrome 18 |
|
Joint laxity, Cleft palate, Lobulated tongue, Camptodactyly, Retrognathia |
OMIM:614815 |
| Mulibrey Nanism |
|
Wide nose, Dental crowding, Depressed nasal bridge, Thickened cortex of long bones, Dental malocc... |
OMIM:253250 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te... |
ORPHA:1051 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Depressed nasal bridge, Delayed epiphyseal ossification, L... |
OMIM:156550 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Wheezing, Rickets, Fat malabsorption |
OMIM:211600 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Accessory oral frenulum |
ORPHA:1373 |
| Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Trismus, Submucous cleft har... |
ORPHA:2671 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Hyperextensibility of the finger joints, Choanal atresia, Underdevelope... |
ORPHA:163979 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Convex nasal ridge, Respiratory distress |
OMIM:619793 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Downturned corners of mouth, ... |
OMIM:613443 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Anosmia, Osteoporosis, Cleft palate |
OMIM:614880 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... |
OMIM:608670 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
| Tetrasomy 5P |
|
Respiratory distress, Anteverted nares, Micrognathia, Wide anterior fontanel, Wide nasal bridge, ... |
ORPHA:3309 |
| Eec Syndrome |
|
Abnormal dental enamel morphology, Choanal atresia, Carious teeth, Xerostomia, Cleft palate, Orof... |
ORPHA:1896 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the ... |
ORPHA:2554 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion b... |
OMIM:617102 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Wide nose, Short lingual frenulum, Craniosynostosis, Broad nasal tip, Asymmetry of the nares, Wid... |
ORPHA:1521 |
| Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Choanal atresia, Micrognathia, Cleft palate, Short philtrum |
OMIM:300712 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Short lingual frenulum, Partial anosmia, Total anosmia, Midgut malrotation, Osteoporo... |
ORPHA:2326 |
| Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... |
ORPHA:93958 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Overhanging nasal tip, Cleft soft palate, Eosinophilic infiltration o... |
OMIM:615582 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Anteverted nares, Choanal atresia, Micrognathia, Cleft lip, Bulbous nose, Furrowed tongue, High p... |
OMIM:616975 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... |
ORPHA:250999 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Tented upper lip vermilion, Dental crowding, Shoulder flex... |
OMIM:620369 |
| Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Neonatal respiratory distress, Calcaneal epiphyseal stippling, Cleft soft palate, ... |
OMIM:117650 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Anteverted nares, High, narrow palate, Submucous ... |
OMIM:612863 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Aplasia/Hypoplasia involving the nose, Multiple joint contractures, Camp... |
ORPHA:1662 |
| 20Q11.2 Microduplication Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Tented philtrum, Gingival o... |
ORPHA:363659 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Flexion contracture of finger, Apnea, Recurrent fractures, Camp... |
ORPHA:3206 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, A... |
ORPHA:100050 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Flexion contracture, Tongue fasciculations, Respiratory insufficiency |
OMIM:614678 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Hypoxemia, Submucous cleft ... |
ORPHA:2282 |
| Bazex-Dupre-Christol Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Furrowed tongue, Joint hypermobility, Low hanging ... |
OMIM:301845 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Depressed nasal bridge, Pyloric stenosis, Dyspnea... |
ORPHA:363705 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Respiratory distress, Chronic lung disease, Micrognathia, Pyloric steno... |
OMIM:613848 |
| Seckel Syndrome 2 |
|
Microdontia, Microglossia, Prominent nose, Micrognathia |
OMIM:606744 |
| Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Cleft palate |
OMIM:302905 |
| Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p... |
OMIM:619143 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion bord... |
OMIM:612938 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Abnormal intestine morphology, Choanal atresia, Chronic lung disease, Camptodactyly |
ORPHA:228426 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
| Tetraamelia Syndrome 1 |
|
Choanal atresia, Cleft upper lip, Micrognathia, Single naris, Cleft palate, Anal atresia |
OMIM:273395 |
| Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Respiratory distress, Hypoventilation, Neonatal respiratory distress, Limi... |
ORPHA:98915 |
| Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia |
ORPHA:2309 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Depressed nasal bridge, Abnormal den... |
ORPHA:1452 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Choanal atres... |
OMIM:129900 |
| Duane-Radial Ray Syndrome |
|
Anal stenosis, Abnormal nasopharynx morphology, Aganglionic megacolon, Choanal atresia, Fused cer... |
OMIM:607323 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... |
OMIM:263000 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Short lingual frenulum, Joint hypermobility, Prominent nasal bridge, Bu... |
OMIM:617360 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Apne... |
OMIM:608013 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Retrognathia, Depressed nasal bridge, Cleft palate |
OMIM:165590 |
| Desmosterolosis |
|
Increased bone mineral density, Depressed nasal bridge, Intestinal malrotation, Micrognathia, Abn... |
ORPHA:35107 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathi... |
ORPHA:818 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Respiratory distress, Flexion contracture, Hyperextensibility at wrists, Hyp... |
ORPHA:544503 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Tongue atrophy |
OMIM:158900 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Carious teeth, Abnormality of t... |
ORPHA:2363 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Protruding tongue, Malabsorption,... |
OMIM:242860 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis... |
OMIM:604292 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Increased bone mineral density, Neonatal respiratory distress, Depressed na... |
OMIM:119600 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Radial club hand, Microglossia, Narrow mouth |
ORPHA:1972 |
| 22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Abnormal dental enamel morphology, Micrognathia, C... |
ORPHA:567 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Tarsal synostosis, Prominent nasal bridge, Hypoplasia of the maxilla, Cleft pa... |
ORPHA:1307 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Wide nasal bridge, Respiratory distress |
ORPHA:89844 |
| Charge Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Cleft upper lip, Abnormal sof... |
ORPHA:138 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Submucous cleft hard palate, Thick l... |
OMIM:619103 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip |
ORPHA:100057 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Conical tooth, Non-mi... |
ORPHA:1071 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bri... |
ORPHA:989 |
| Choanal Atresia |
|
Respiratory distress, Craniosynostosis, Upper airway obstruction, Nasal congestion, Tracheomalaci... |
ORPHA:137914 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia |
ORPHA:2140 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Wide nasal ridge, Craniosynostosis |
ORPHA:531151 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t... |
ORPHA:2457 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Joint stiffness, Cleft palate, B... |
ORPHA:2167 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Thin upper lip vermilion, Respiratory distress, Anteverted nares, Micrognath... |
ORPHA:177907 |
| Chand Syndrome |
|
Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... |
ORPHA:922 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Tooth abscess |
ORPHA:89937 |
| Branchiogenic-Deafness Syndrome |
|
Trismus, Submucous cleft hard palate |
OMIM:609166 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Anteverted nares, Depressed nasal bridge, Micrognathia, Osteoarthr... |
ORPHA:1427 |
| Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Low ha... |
OMIM:613680 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture |
ORPHA:2596 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Narrow palate, Hyperplasia o... |
ORPHA:313892 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Furrowed tongue |
ORPHA:2928 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, High palate, Microdo... |
ORPHA:536467 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Upper airway obstruction, Cleft palate, Micrognathia |
ORPHA:440354 |
| Cree Mental Retardation Syndrome |
|
Cleft soft palate, Micrognathia |
OMIM:606851 |
| Fanconi Anemia |
|
Aganglionic megacolon, Choanal atresia, Micrognathia, Aplasia/Hypoplasia of the uvula, Tracheoeso... |
ORPHA:84 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Duodenal ulcer, Intestinal mal... |
OMIM:135900 |
| Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft pa... |
ORPHA:1358 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High... |
OMIM:614091 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Depressed nasal bridge, Mic... |
OMIM:300990 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Bulbous... |
ORPHA:324410 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Osteomalacia, Recurrent fractures, Malabsorption, Camptod... |
ORPHA:2176 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... |
OMIM:619314 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Micrognathia, Accessory oral frenulum, Cleft upper lip, Broad nasal tip, Cle... |
OMIM:277170 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Recurrent fractures,... |
ORPHA:93160 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin... |
ORPHA:364577 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
| Congenital Myasthenic Syndrome |
|
Microretrognathia, Joint laxity, Sudden episodic apnea, Intermittent episodes of respiratory insu... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Joint laxity, Sudden episodic apnea, Intermittent episodes of respiratory insu... |
ORPHA:98914 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Unicoronal synostosis, Prominent nose, Cleft... |
OMIM:616300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
| Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft pal... |
ORPHA:3426 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip, Trismus, Pierre-Robin se... |
OMIM:254940 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Limited elbow movement, Micrognathia, Osteoporosis, Abnormal respi... |
ORPHA:94068 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Cough, P... |
ORPHA:3392 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Anteverted nares, ... |
OMIM:607812 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Macrodontia, Prominent nasal bridge, Protruding tongue, Diaste... |
OMIM:212066 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Intestinal malrotation, Choanal atresia, Micrognathi... |
ORPHA:199 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Smooth philtrum, Abnormality of the dentition, Carious teeth, Long nose, Velopharyngeal insuffici... |
ORPHA:363444 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Micrognathia, Prominent nose, Long nose,... |
ORPHA:2636 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Agenesis of canine, Single naris, ... |
ORPHA:141099 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Apnea, Micrognathia, Delayed epiphyseal ossification, ... |
OMIM:114290 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal columella mo... |
ORPHA:436003 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Joint stiffness, Hypoplasia of the maxilla, Sub... |
ORPHA:2588 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia |
ORPHA:93316 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Wide nose, Flexion contracture, Recurrent pneumonia, Wide nasal bridge, Mac... |
OMIM:617303 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate, Micrognathia |
ORPHA:2001 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Down Syndrome |
|
Joint laxity, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of th... |
ORPHA:870 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, D... |
OMIM:619680 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Hy... |
ORPHA:1299 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Nasal polyposis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... |
OMIM:264700 |
| Limb Body Wall Complex |
|
Depressed nasal bridge, Choanal atresia, Cleft lip, Wide nasal bridge, Cleft palate, Abnormal int... |
ORPHA:2369 |
| Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Anteverted nares, Choanal atresia, Accessory oral frenulum, Cleft... |
ORPHA:672 |
| Meier-Gorlin Syndrome 1 |
|
Joint laxity, Death in infancy, Respiratory distress, Absent sternal ossification, Micrognathia, ... |
OMIM:224690 |
| Dyskeratosis, Hereditary Benign Intraepithelial |
|
Oral leukoplakia |
OMIM:127600 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Downturned corners of mouth, High palate, Widely sp... |
ORPHA:79500 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Wide nose, Apnea, High palate, Retrognathia |
ORPHA:79330 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Hypophosphatemic rickets |
OMIM:307800 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Protruding tongue, Gingi... |
OMIM:618797 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Short lingual frenulum, Bulbous nose, Anteriorly placed anus, Widely-spaced maxillary central inc... |
OMIM:608980 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Tetanus |
|
Respiratory distress, Trismus, Stiff neck, Tachypnea |
ORPHA:3299 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture |
OMIM:616733 |
| Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Abnormality of th... |
ORPHA:570 |
| Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Cough |
ORPHA:99825 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thin upper lip vermilion, Anteverted nares, Micrognathia, Pierre-Robin sequence, Wide... |
OMIM:611209 |
| C Syndrome |
|
Death in infancy, Anteverted nares, Depressed nasal bridge, Accessory oral frenulum, Micrognathia... |
ORPHA:1308 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Choanal atresia |
OMIM:113700 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susc... |
ORPHA:289157 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Hypoplasia... |
OMIM:300534 |
| Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Conical tooth, Hypoplasia of the maxilla, Carious teeth, Velopharyngeal i... |
OMIM:129400 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Anteverted nares, Recurrent pneumonia, Cleft palate, Furrowed tongue,... |
OMIM:616449 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Oral leukoplakia |
OMIM:615735 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Bulbous nose, Lobulated t... |
ORPHA:2752 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in childhood, Death in adolescence, Osteoporosis, Rickets |
OMIM:560000 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Mi... |
OMIM:115150 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency |
OMIM:620285 |
| 7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Craniosynostosis, Micrognathia, Diastema, Broad... |
ORPHA:96121 |
| Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Dyspnea... |
ORPHA:435628 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... |
ORPHA:289176 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Micrognathia, Wide nasal bridge,... |
OMIM:618580 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Micrognathia, Knee flexion contracture, Smooth tongue, Pursed lips, Death in infancy, Ante... |
OMIM:601559 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
| Tarp Syndrome |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Tongue nodules, Glossoptosis, Hi... |
OMIM:311900 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Osteoporosis, Microdontia, Oral leukoplakia |
OMIM:224230 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Wide anterior fontanel, Submucous cleft hard palate, ... |
ORPHA:457279 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Depressed nasal bridge, Tarsal synostosis, Camptodactyly of finge... |
ORPHA:90652 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Esoph... |
ORPHA:95430 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Protruding tongue, Persistence of primary t... |
OMIM:610253 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Depressed nasal bridge, Long philtrum |
OMIM:617895 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Dyspnea, Osteoporosis, Interstitial pneumonitis, Premature loss of teeth, Oral leu... |
OMIM:127550 |
| Au-Kline Syndrome |
|
Wide nasal ridge, Sagittal craniosynostosis, Craniosynostosis, Prominent nasal bridge, Underdevel... |
OMIM:616580 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Fibrous dysplasia of the bones, Rickets, Abnormal mandible morpho... |
ORPHA:249 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Respiratory insufficiency, Glossoptosis, Short nose |
ORPHA:2031 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Craniosynostosis, Hiatus hernia, Pyloric stenosis, Dyspnea, Cardiorespirato... |
ORPHA:3342 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Glossitis |
ORPHA:54028 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa m... |
OMIM:305100 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Depressed nasal bridge, Accessory oral frenulum, Micrognathia, Craniosynostosis, Wide... |
OMIM:266920 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Cleft lip, Short nose, Dental malocclusio... |
OMIM:616894 |
| Isolated Arrhinia |
|
Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas... |
ORPHA:1134 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Depressed nasal bridge, Craniosynostosis, Micrognathia,... |
ORPHA:235 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Decreased cranial base ossification, Stillbirth, Depressed nasal bridge |
OMIM:151210 |
| Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... |
OMIM:613805 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Anteverted nares, Recurrent fractures, Depressed nasal bridge, ... |
OMIM:618188 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Abnormal h... |
OMIM:200600 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi... |
ORPHA:352665 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Flexion contracture, Esophageal varix, Respiratory insufficiency |
ORPHA:367 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys... |
ORPHA:141083 |
| Pachyonychia Congenita 1 |
|
Oral leukoplakia |
OMIM:167200 |
| Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| White Sponge Nevus 1 |
|
Oral leukoplakia |
OMIM:193900 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Micrognathia, Cleft palate, Glossoptosis, Trache... |
ORPHA:1393 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... |
OMIM:212750 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Icf Syndrome |
|
Depressed nasal bridge, Protruding tongue, Malabsorption, Micrognathia, Macroglossia |
ORPHA:2268 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607765 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Oral leukoplakia, Squamous cell carcinoma of the tongue |
OMIM:613988 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Micrognathia, Underdeveloped nasal alae, Pyloric stenosis, Contracture of t... |
ORPHA:83617 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Furrowe... |
ORPHA:453499 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hip contracture, Broad nasal tip, Deep philtrum, Submucous cleft hard p... |
OMIM:619194 |
| Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Wide anterior fontanel, High ... |
OMIM:300963 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Depressed nasal bridge, Wide anterior fontanel, Respiratory ... |
OMIM:616482 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood |
OMIM:615597 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
| You-Hoover-Fong Syndrome |
|
Accessory oral frenulum, Cleft palate |
OMIM:616954 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Micrognathia, Trismus, Bulbous nose, Flexion contracture, Recurrent pneumonia |
OMIM:616271 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micrognathia, Hypoplasia o... |
ORPHA:193 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Micrognathia, Prominent nose, Long nose, Bulbous nose, Submucous cleft h... |
ORPHA:3047 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
| Frontorhiny |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Midline nasal groove, Bifid tongue |
ORPHA:391474 |
| Rodrigues Blindness |
|
Narrow nasal bridge, Tooth malposition, Nasal flaring |
OMIM:268320 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Nicolaides-Baraitser Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Narrow nasal bridge, Short lingual frenulum, Anteverte... |
OMIM:601358 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, High pala... |
ORPHA:798 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Multiple joint contractures, Limited hip extension, Shoulder flexion contracture,... |
OMIM:617114 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Hig... |
ORPHA:464738 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Flexion contracture, Downturned corners of mouth, Shor... |
OMIM:619321 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Restrictive ventilatory defect, Oral leukoplakia |
OMIM:619767 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Depressed nasal ridge, Poorly o... |
ORPHA:3003 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Limited hip extension, Depressed nasal bridge, Generalize... |
OMIM:100800 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... |
ORPHA:2930 |
| Pachyonychia Congenita 2 |
|
Natal tooth, Oral leukoplakia, Angular cheilitis |
OMIM:167210 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Short lingual frenulum, Depressed nasal bridge, Flexion contractur... |
OMIM:619479 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Psoriasis 14, Pustular |
|
Oligoarthritis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D... |
ORPHA:534 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Dental crowding, Recurrent upper and lower respiratory tract in... |
ORPHA:79329 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Flexion contra... |
ORPHA:365 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
| Cystinosis |
|
Rickets, Malabsorption |
ORPHA:213 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Narrow nasal bridge, Dental crowding, Prominent nose, High, narrow palate, Wide mou... |
OMIM:300967 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Tachypnea, Esophageal varix, Rickets, Respirato... |
OMIM:613658 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow pala... |
OMIM:180849 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Short nose, Long philtrum |
ORPHA:50810 |
| Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Aplasia of the nose, S... |
OMIM:301043 |
| Zttk Syndrome |
|
Depressed nasal bridge, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla... |
OMIM:617140 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Respiratory distress, Neonata... |
OMIM:616268 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615108 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Wide nose, Protruding tongue, Micrognathia, Neonatal asphyxia, Respiratory insu... |
OMIM:608779 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Tolchin-Le Caignec Syndrome |
|
Prominent nose, Micrognathia, Submucous cleft hard palate, Wide nasal bridge, High palate, Narrow... |
OMIM:618971 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Bulbous nos... |
ORPHA:434179 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Catel-Manzke Syndrome |
|
Joint laxity, Narrow nose, Micrognathia, Cleft upper lip, Pierre-Robin sequence, Cleft palate, Gl... |
OMIM:616145 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Malabsorption, Recurrent pneumonia, Glossoptosis, Arthritis |
ORPHA:47 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Micrognathia, Carious teeth, Broad nasal tip, ... |
OMIM:223370 |
| Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Dental malocclusion, Nasal con... |
ORPHA:562 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Protruding... |
ORPHA:50945 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Wide nose, Recurrent upper respiratory tract infe... |
OMIM:607143 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Wide anterior fontanel, Depressed nasal bridge, Respiratory distress |
OMIM:231680 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Joint stiffness, Flexion contracture, Stridor, Macroglossia, Thick vermilio... |
ORPHA:505248 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Joint laxity, Vertebral fusion, Anteve... |
OMIM:268310 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Rickets, Steatorrhea |
ORPHA:79303 |
| Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue |
ORPHA:1839 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Decreased DLCO, Osteoporosis, Oral leukoplakia |
OMIM:613990 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Abnor... |
ORPHA:958 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Osteoporosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:613989 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, High palate, Broa... |
OMIM:619472 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Abruzzo-Erickson Syndrome |
|
Abnormal palate morphology, Radioulnar synostosis, Cleft palate |
ORPHA:921 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:615109 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Cleft palate, Depressed nasal bridge, Hamartoma of tongue |
OMIM:616546 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Cleft soft palate |
OMIM:614557 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... |
OMIM:209885 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Hyperventilation, Protruding tongue |
OMIM:614325 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernum... |
OMIM:617088 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Wide nose, Depressed nasal bridge, Tarsal synostosis, Craniosynostosis, Choanal atresia, Humerora... |
OMIM:201750 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Bifid uvula |
ORPHA:69085 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:617660 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Stickler Syndrome |
|
Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridge, Micrognathia, Hypopl... |
ORPHA:828 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Apnea, Micrognat... |
OMIM:619503 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Microdontia, Oral leukoplakia |
OMIM:148210 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Bifid uvula, Craniosynostosis, Micrognathia |
OMIM:601374 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Tarp Syndrome |
|
Anteverted nares, Apnea, Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft pa... |
ORPHA:2886 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Irregular ossification at anterior rib ends,... |
OMIM:260400 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Pyloric stenosis, Submucous cleft hard pa... |
ORPHA:2461 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Camptodactyly of finger, Abnormal dental enamel morphology, Choanal atresi... |
ORPHA:2273 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Farber Disease |
|
Respiratory distress, Flexion contracture, Osteoporosis, Recurrent upper respiratory tract infect... |
ORPHA:333 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Flexion contractu... |
ORPHA:258 |
| Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligo... |
ORPHA:3107 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Tachypnea, Anteriorly placed anus |
ORPHA:26793 |
| Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
| Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Micrognathia, Cleft lip, Wide nasal bridge, High palat... |
ORPHA:124 |
| Charge Syndrome |
|
Anal stenosis, Choanal atresia, Micrognathia, Cleft upper lip, Esophageal atresia, Anosmia, Trach... |
OMIM:214800 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Wide nose, Dental crowding, Anteverted nares, Prominent nasal bridge, Abno... |
ORPHA:769 |
| Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Depressed nasal bridge, Submucous cleft hard palate, Hypoplasia of the zygomati... |
ORPHA:1340 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Depressed nasal bridge, Micrognathia, Humeroradial synostosis, Pneumothorax... |
ORPHA:3404 |
| Vater/Vacterl Association |
|
Abnormal nasopharynx morphology, Choanal atresia, Esophageal atresia, Tracheoesophageal fistula, ... |
OMIM:192350 |
| Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Respiratory distress, Depressed nasal bridge, Thick lower... |
ORPHA:404448 |
| Occipital Horn Syndrome |
|
Osteopenia, Osteomalacia, Hiatus hernia, High, narrow palate, Osteoporosis, Rickets, Osteolysis, ... |
ORPHA:198 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Dyspnea... |
ORPHA:79404 |
| Dyskeratosis Congenita |
|
Esophageal stenosis, Recurrent fractures, Malabsorption, Hypoplasia of the maxilla, Carious teeth... |
ORPHA:1775 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Oral leukoplakia |
OMIM:613987 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Osteoporosis, Colitis, Steatorrhea |
ORPHA:309031 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Oral leukoplakia, Gingivitis, Furrowed tongue |
OMIM:615726 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress |
ORPHA:254913 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cleft soft palate, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Pyloric st... |
ORPHA:268261 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Flexion contracture, Narrow nose |
OMIM:618891 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Osteoporosis, Bilate... |
OMIM:301068 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Depressed nasal bridge, Joint hypermobility, Sagittal craniosynostos... |
ORPHA:500150 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hamartomatous poly... |
OMIM:158350 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Intestinal bleeding, Pathologic ... |
OMIM:612199 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Prominent nasal bridge, Persistence of primary teeth, Broad nasal tip,... |
OMIM:300166 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hereditary Folate Malabsorption |
|
Eosinophilia, Glossitis, Cheilitis |
ORPHA:90045 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Protruding tongue, Micrognathia, Wide nasal bridge, H... |
OMIM:617062 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Coronal craniosynostosis, Anteriorly pl... |
OMIM:612289 |
| Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia |
OMIM:618165 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Peptic ulcer |
OMIM:600740 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia, Malabsorption |
OMIM:227810 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Osteolysis, Cough, Pleural effusion |
ORPHA:1546 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Eosinophilia, Malabsorption, Pulmonary embolism, Dyspnea, As... |
ORPHA:3260 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Stomatitis, Pulmonary arterial hypertension, Glossitis,... |
ORPHA:79282 |
| Coffin-Siris Syndrome 12 |
|
Joint laxity, Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Micrognathia, Cel... |
OMIM:619325 |
| Giant Cell Arteritis |
|
Epistaxis, Joint stiffness, Recurrent pharyngitis, Arthritis, Cough, Glossitis |
ORPHA:397 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... |
ORPHA:141127 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Interstitial pne... |
ORPHA:37042 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Cheilitis, Oral leukoplakia, Angular cheilitis |
OMIM:616295 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Furrowed tongue, Rhinorrhea |
OMIM:158310 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Wide nose, Abnormal dental enamel morphology, Micrognathia, Dyspnea, Wide n... |
ORPHA:2556 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Choanal atresia, Tracheoesophageal fistula, Rectovaginal fi... |
OMIM:107480 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Osteomyelitis, Sinusitis, Pneumonia, Tachypnea, Arthritis, Septic arthritis |
ORPHA:36234 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Respiratory insuffici... |
OMIM:269860 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Peters-Plus Syndrome |
|
Joint laxity, Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated ... |
OMIM:261540 |
| Vascular Ehlers-Danlos Syndrome |
|
Narrow nasal bridge, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth... |
ORPHA:286 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy, Reduced vital capacity, Respiratory insufficiency |
ORPHA:99956 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Macroglossia, Pleural effusion, Apnea |
OMIM:261740 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture |
OMIM:618733 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Asthma, Downturned corners of mouth, Ma... |
ORPHA:444077 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Carious teeth, Gingivitis, Periodontitis, Oral leukoplakia |
OMIM:173650 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Bulbous nose, Asthma, Nasal fl... |
ORPHA:466943 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Restricti... |
ORPHA:537 |
| Cocaine Intoxication |
|
Respiratory distress, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, Colitis, Cough, ... |
ORPHA:90068 |
| Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
| Japanese Encephalitis |
|
Respiratory distress, Stiff neck, Elbow flexion contracture, Respiratory paralysis, Abnormal patt... |
ORPHA:79139 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Wide nose, Depressed nasal bridge, Micrognathia, Cleft upper lip, Esophageal atresia, Abnormal pe... |
ORPHA:93271 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Rhinitis |
ORPHA:319213 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
| Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, E... |
ORPHA:90051 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Open mouth, Osteoporosis, Anteverted nares |
OMIM:615273 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
| Generalized Pustular Psoriasis |
|
Arthritis, Geographic tongue, Cheilitis |
ORPHA:247353 |
| 8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Joint laxity, Respiratory distress, Anteverted nares... |
ORPHA:508488 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Flexion contracture, Apnea, Orofacial cleft |
ORPHA:17 |
| Wilson Disease |
|
Osteomalacia, Osteoarthritis, Esophageal varix, Osteoporosis, Hyposmia, Joint hypermobility |
OMIM:277900 |
| Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Hoyeraal-Hreidarsson Syndrome |
|
Oral leukoplakia |
ORPHA:3322 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters |
ORPHA:79396 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Exaggerated cupid's bow, Downturned corners of mouth, Aspiration |
ORPHA:2131 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Broad nasal tip, Generalize... |
ORPHA:1596 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B... |
ORPHA:261537 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Hypoventilation, Tongue atrophy, Respiratory insufficiency, Tongue fasciculations, Difficulty in ... |
ORPHA:99949 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Natal tooth, Thin upper lip vermilion, Anteverted nares, Camptodactyly of finger, Wid... |
ORPHA:3455 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Respiratory insufficiency due to muscle weakness, Rickets, Increased susceptibility... |
ORPHA:18 |
| Fraser Syndrome |
|
Death in infancy, Anal stenosis, Cleft ala nasi, Dental crowding, Depressed nasal bridge, Cleft u... |
ORPHA:2052 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Widely spaced tee... |
ORPHA:2152 |
| Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Eosinophilia, Osteolysis, Arthritis, Pleural empy... |
ORPHA:228123 |
| Yunis-Varon Syndrome |
|
Narrow nasal base, Absent sternal ossification, Anteverted nares, Premature loss of primary teeth... |
ORPHA:3472 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... |
ORPHA:31204 |
| Dyskeratosis Congenita, X-Linked |
|
Carious teeth, Esophageal stricture, Osteoporosis, Restrictive ventilatory defect, Premature loss... |
OMIM:305000 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Short philtrum, B... |
ORPHA:261552 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy, Flexion contracture of finger |
ORPHA:101085 |
| Dyskeratosis Congenita, Digenic |
|
Oral leukoplakia, Abnormality of the dentition |
OMIM:620040 |
| Q Fever |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Pleural effusion |
ORPHA:781 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Osteomalacia, Pneumonia, Oral ulcer, B... |
OMIM:619381 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
| Plague |
|
Respiratory distress, Chapped lip, Enterocolitis, Acute infectious pneumonia, Arthritis, Inflamma... |
ORPHA:707 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
| Listeriosis |
|
Respiratory distress, Stiff neck, Miscarriage, Osteomyelitis, Pneumonia, Respiratory failure, Sep... |
ORPHA:533 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax |
OMIM:620306 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, In... |
ORPHA:2729 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Ethylene Glycol Poisoning |
|
Tachypnea, Gastritis, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation |
ORPHA:79241 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
| Meckel Syndrome, Type 1 |
|
Smooth philtrum, Natal tooth, Thin upper lip vermilion, Intestinal malrotation, Camptodactyly of ... |
OMIM:249000 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, P... |
OMIM:309580 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
| Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Osteopenia, Multiple joint contractures, Joint l... |
ORPHA:79318 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur... |
OMIM:256810 |
| Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
| Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Rickets, Pathologic fracture, Enamel hypoplasia, Joint con... |
OMIM:309000 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Peptic ulcer |
ORPHA:405 |
| Agel Amyloidosis |
|
Tongue atrophy, Xerostomia |
ORPHA:85448 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Depressed nasal bridge, Camptodactyly of finger, Cleft upper lip, Wide anterior fontanel, Submuco... |
OMIM:607872 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
| Cowden Syndrome |
|
Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Colorectal polyposis, High palate |
ORPHA:201 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Micrognathia, Depressed nasal ridge, Cleft palate, Furrowed tongue |
ORPHA:564 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Osteoarthritis, Arthritis, Oral leukoplakia |
ORPHA:342 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy, Flexion contracture of finger, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:466768 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Block vertebrae, Posteriorly placed anus, Anal atresia, Duodenal atresia |
OMIM:306955 |
| Revesz Syndrome |
|
Oral leukoplakia |
OMIM:268130 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Prominent nose, Respiratory acidosis, Narrow... |
OMIM:614748 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Recurrent pneumonia, Thin vermilion border, Ab... |
ORPHA:99646 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
| Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglion... |
ORPHA:653 |
| Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
| Kawasaki Disease |
|
Arthritis, Glossitis, Cheilitis, Recurrent pharyngitis |
ORPHA:2331 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation |
ORPHA:255210 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Microsporidiosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Rhinitis, Glossitis |
ORPHA:2552 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
| Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
| Gitelman Syndrome |
|
Respiratory distress, Gout |
ORPHA:358 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical ve... |
ORPHA:51608 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Rickets |
OMIM:219800 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation |
ORPHA:2255 |
| Glucagonoma |
|
Stomatitis, Intestinal obstruction, Glossitis, Steatorrhea |
ORPHA:97280 |
| Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... |
ORPHA:97214 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure |
ORPHA:805 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Recurrent upper respiratory tract infections, ... |
ORPHA:64 |
| Leptospirosis |
|
Respiratory distress, Pleural effusion, Cough |
ORPHA:509 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the pharynx, Ab... |
ORPHA:1359 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
