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Gene: Hoxb4 MGI:96185

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

homeobox B4

Synonyms:

Hox-2.6

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hoxb4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hoxb4 (0 diseases)
Human diseases predicted to be associated with Hoxb4 (732 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hoxb4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Abnormal heart valve morphology, Congenital diaphragmatic hernia, Redundant skin,...	ORPHA:171719
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia, Hip dislocation, Abnormal heart morphology, Cuti...	OMIM:614100
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:2141
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle...	ORPHA:1143
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of t...	ORPHA:1120
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb undergrowth, Tet...	OMIM:613630
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Respiratory insufficiency, Vertebral ...	ORPHA:1166
Poland Syndrome	Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy...	OMIM:173800
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ...	ORPHA:2311
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn...	OMIM:300580
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Congenital diaph...	ORPHA:1488
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly ...	ORPHA:1520
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Metaphyseal widening, F...	OMIM:263210
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri...	ORPHA:86812
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus exc...	ORPHA:2847
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Craniorachischisis	Omphalocele, Bifid sternum, Congenital diaphragmatic hernia	ORPHA:63260
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia...	ORPHA:380
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Pulmo...	OMIM:300887
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,...	OMIM:618254
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Camptodactyly of finger, Pectus excavatum, Increased variabil...	OMIM:614399
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Co...	ORPHA:958
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,...	OMIM:613561
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Respiratory distress, Ventricular septal defect, Thoracic hypoplasia, Po...	OMIM:617895
Neuronal Intestinal Pseudoobstruction	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:99811
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Tapered finger, Short neck, Pectus excavatum, Small hand, 2-3 to...	ORPHA:284180
Trisomy 1Q	Omphalocele, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of finger, ...	ORPHA:261344
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont...	ORPHA:536516
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Abnormal h...	OMIM:614608
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Pentalogy Of Cantrell	Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic...	ORPHA:1335
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th...	OMIM:601163
Acrocallosal Syndrome	Abnormal clavicle morphology, Inguinal hernia, Congenital diaphragmatic hernia, Postaxial hand po...	ORPHA:36
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric...	OMIM:611884
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Emanuel Syndrome	Inguinal hernia, Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragm...	OMIM:609029
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Central diaphragmatic hernia, Sm...	OMIM:617450
Emanuel Syndrome	Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong...	ORPHA:96170
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal...	ORPHA:94065
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Congenital Heart Block	Crackles, Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Endocardial fibroelast...	ORPHA:60041
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Pectus carinatu...	OMIM:245600
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Dextrocardia, Block vertebrae, Short neck...	OMIM:613686
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Rib fusion, Abnormal heart morphology, Hand polyda...	ORPHA:261197
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio...	ORPHA:141152
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Congenital Diaphragmatic Hernia	Prominent sternum, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic...	ORPHA:887
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m...	OMIM:187601
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Polyhydramnios, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped lo...	OMIM:151210
Lethal Recessive Chondrodysplasia	Respiratory distress, Polyhydramnios, Edema, Macroglossia, Short long bone, Narrow chest, Flared ...	ORPHA:1423
Tonne-Kalscheuer Syndrome	Brachydactyly, Broad thumb, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:300978
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Mosaic Trisomy 1	Omphalocele, Long toe, Broad toe, Toe syndactyly, Ventricular septal defect, Camptodactyly of fin...	ORPHA:1692
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Perching Syndrome	Respiratory distress, Joint contracture, Scoliosis, Camptodactyly	OMIM:617055
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium, Pulmonic ...	ORPHA:2414
Odontochondrodysplasia 1	Respiratory distress, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of fing...	OMIM:184260
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Bifid sternum, Tapere...	OMIM:303600
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy...	OMIM:265000
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia	ORPHA:66630
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonat...	OMIM:618393
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Missing ribs, Short neck, Abnormal rib morphology, ...	ORPHA:1834
Achondrogenesis, Type Ib	Inguinal hernia, Edema, Polyhydramnios, Hypoplastic ilia, Hydrops fetalis, Respiratory insufficie...	OMIM:600972
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental enamel morphology, Sp...	ORPHA:2092
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Short ...	OMIM:614294
Diaphanospondylodysostosis	Respiratory distress, Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax...	ORPHA:66637
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Cutis Laxa, Autosomal Recessive, Type Ia	Inguinal hernia, Arachnodactyly, Redundant skin, Congenital diaphragmatic hernia, Pectus excavatu...	OMIM:219100
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Dextrocardia, Thoracolumbar scoliosis, 2-3...	ORPHA:2437
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Scoliosis, Hemivertebrae, Congenital diaphragmatic hernia	ORPHA:370079
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Short ...	OMIM:222448
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus...	OMIM:208050
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Aspiratio...	OMIM:618651
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge...	ORPHA:251071
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, Metatarsal osteolysis, Metaca...	OMIM:166300
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Skeletal muscle atrophy, Increased connective tissue, Respiratory insuffici...	ORPHA:238329
Kniest Dysplasia	Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu...	OMIM:156550
Zaki Syndrome	Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Broad...	OMIM:619648
Odontochondrodysplasia	Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys...	ORPHA:166272
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Microphthalmia, Syndromic 9	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atr...	OMIM:601186
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Repeated ...	OMIM:617602
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Pectus carinatu...	ORPHA:363705
Ciliary Dyskinesia, Primary, 30	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat...	OMIM:616037
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Dextrocardia, Missing ribs, Respiratory insufficiency, Abnormal tricuspi...	ORPHA:1759
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Aplasia/Hypopla...	ORPHA:3099
Ciliary Dyskinesia, Primary, 25	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu...	OMIM:615482
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac...	OMIM:253700
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Abnormal cardiac septum mo...	ORPHA:2075
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Congenital diaphrag...	OMIM:200980
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ...	OMIM:617300
Ferguson-Bonni Neurodevelopmental Syndrome	Pectus excavatum, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary arter...	OMIM:619699
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Myopathy	ORPHA:26792
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, Pectus excavatum, 3-4 fin...	OMIM:612530
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Redundant neck skin, Ventricular septal defect, Postaxial hand polydactyly,...	ORPHA:2519
Diamond-Blackfan Anemia 10	Respiratory distress, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphr...	OMIM:613309
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Congenital Laryngeal Web	Respiratory distress, Stridor, Abnormal cardiac septum morphology	ORPHA:2374
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty...	OMIM:605809
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Distal amyotrophy, Kyphoscoliosis	OMIM:619099
American Trypanosomiasis	Edema, Periorbital edema, Myocarditis, Dyspnea, Cardiomyopathy, Pallor, Cough	ORPHA:3386
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Inguinal hernia, Absent in utero ossificati...	OMIM:608022
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tachypnea, Cor pulmonale, Respiratory failure, Cough	OMIM:263000
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum a...	ORPHA:2257
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Polyhydramnios, Missing ribs, Dyspnea, Abnormal rib morphol...	ORPHA:2759
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Pallor	ORPHA:2786
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro...	ORPHA:2596
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Pallor	ORPHA:49827
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Vertebra...	ORPHA:373
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Respiratory distress, Pulmonary edema, Cardiomegaly, Pericardial effusio...	OMIM:115197
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Sandal gap, Redundant ski...	OMIM:613177
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Death in infancy, Respiratory distress	OMIM:616974
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r...	OMIM:314390
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed...	ORPHA:100057
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Ciliary Dyskinesia, Primary, 17	Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia...	OMIM:614679
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
13Q12.3 Microdeletion Syndrome	Kyphoscoliosis, Hip dysplasia, Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency...	ORPHA:254875
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Congenital diaphragmatic hernia, Asthma, Atrial septal...	OMIM:616777
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Congenital diaphragmatic hernia, Postaxial polydactyly, Short neck, Polyhydram...	OMIM:616546
Fryns Syndrome	Omphalocele, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Abnormal cardiac septum...	ORPHA:2059
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Achilles tendon ...	ORPHA:363528
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Acute Peripheral Arterial Occlusion	Limb muscle weakness, Pallor	ORPHA:90064
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c...	OMIM:606763
Limb Body Wall Complex	Ventral hernia, Thoracoabdominal wall defect, Ventricular septal defect, Diastasis recti, Congeni...	ORPHA:2369
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ...	OMIM:154400
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu...	OMIM:620011
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology...	ORPHA:50251
Idiopathic Pulmonary Hemosiderosis	Crackles, Cardiomegaly, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough	ORPHA:99931
Dermatitis, Atopic	Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin	OMIM:603165
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Absent thumb, Short neck, Short thumb, Short 1st metacarpal, Hypoplasi...	OMIM:609053
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Hydrops fetalis, Bifid thoracic verte...	ORPHA:268249
Scimitar Syndrome	Respiratory distress, Hypoplasia of the diaphragm, Hernia, Cough, Atrial septal defect, Single ve...	ORPHA:185
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati...	OMIM:600001
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Osteogenesis Imperfecta, Type X	Respiratory distress, Multiple rib fractures, Inguinal hernia, Short femur, Bowing of the long bo...	OMIM:613848
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo...	OMIM:187600
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Transposit...	ORPHA:1780
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Short neck	ORPHA:1832
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Dextrocardia	OMIM:606217
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Short neck...	OMIM:304110
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi...	ORPHA:1647
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Polyhydramnios, Dilated...	ORPHA:367
Congenital Myopathy 21 With Early Respiratory Failure	Inguinal hernia, Spinal rigidity, Dyspnea, Hypertrophic cardiomyopathy, Respiratory failure, Noct...	OMIM:620326
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Inguinal hernia, Edema of the dorsum of feet, Tapered finger, Edema of the ...	ORPHA:544503
Fetal Alcohol Syndrome	Atrial septal defect, Vertebral segmentation defect, Congenital diaphragmatic hernia	ORPHA:1915
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Congenital diaphra...	ORPHA:2255
Carnitine Deficiency, Systemic Primary	Respiratory distress, Cardiomegaly, Dehydration, Cardiomyopathy, Myopathy, Reduced muscle carniti...	OMIM:212140
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Trisomy 18	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:3380
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm, Scoliosis	OMIM:618238
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Flexion contracture, Respiratory distress, Oligohydramnios	OMIM:616733
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Polyhydramni...	ORPHA:596
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Transposition of the great arteries...	OMIM:313850
Meacham Syndrome	Death in infancy, Stillbirth, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Apl...	OMIM:608978
Achondroplasia	Respiratory distress, Polyhydramnios, Bowing of the legs, Femoral bowing, Narrow greater sciatic ...	OMIM:100800
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber...	ORPHA:254864
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema	OMIM:267450
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Proximal pl...	OMIM:217980
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Short neck,...	ORPHA:1001
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Abnormal femur morphology, Abnormal fibula morp...	ORPHA:2063
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipit...	ORPHA:536467
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea	OMIM:617577
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly, Scoliosis	OMIM:300934
Esophageal Atresia	Omphalocele, Respiratory distress, Ventricular septal defect, Polyhydramnios, Laryngotracheomalac...	ORPHA:1199
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker b...	OMIM:271225
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen	OMIM:602361
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Kyphoscoliosis	OMIM:617977
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Cardiomyopathy, Ne...	OMIM:619003
Mirage Syndrome	Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, 2-3 toe...	OMIM:618454
Pagod Syndrome	Omphalocele, Death in infancy, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Sit...	ORPHA:991
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Ciliary Dyskinesia, Primary, 22	Neonatal respiratory distress, Dextrocardia, Situs inversus totalis, Bronchiectasis, Decreased na...	OMIM:615444
Lowry-Maclean Syndrome	Atrioventricular canal defect, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2409
Cornelia De Lange Syndrome 1	Inguinal hernia, Ventricular septal defect, Pneumonia, Congenital diaphragmatic hernia, Hiatus he...	OMIM:122470
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ...	OMIM:208530
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Abnormal heart valve morp...	ORPHA:280
Acute Myelomonocytic Leukemia	Dyspnea, Pallor	ORPHA:517
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Myofiber disarray, Myopathy, Increased variability in mus...	OMIM:604377
Aymé-Gripp Syndrome	Pericarditis, Inguinal hernia, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finge...	ORPHA:1272
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Pallor	ORPHA:71518
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Polyhydramnios, Short neck, Flexion contracture, Genera...	OMIM:620369
Optic Atrophy 1	Pallor	OMIM:165500
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, O...	OMIM:260400
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Asbestos Intoxication	Reduced vital capacity, Edema, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheez...	ORPHA:2302
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotranspositi...	OMIM:306955
Arterial Tortuosity Syndrome	Respiratory distress, Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Femoral hernia, ...	ORPHA:3342
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie...	OMIM:614299
Diets-Jongmans Syndrome	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Hip ...	OMIM:618846
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Short neck, Polyhydramnios, Abnorma...	ORPHA:818
X-Linked Sideroblastic Anemia	Dyspnea, Pallor	ORPHA:75563
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Marden-Walker Syndrome	Inguinal hernia, Decreased muscle mass, Arachnodactyly, Dextrocardia, Short neck, Kyphosis, Conge...	OMIM:248700
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheo...	ORPHA:2745
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ne...	OMIM:183900
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Polyhydramnios, Centrally nucleated skeletal muscle fiber...	OMIM:300219
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Hypoplastic cervical vertebrae, At...	OMIM:616364
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Pectus carinatum, Vertebral segmentation defect,...	OMIM:312870
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Dextrocardia, Brachydactyly	ORPHA:2863
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,...	OMIM:610978
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Polyh...	OMIM:114290
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture, Sc...	OMIM:615042
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Pulmonary edema, Apnea, Edema, Cardiom...	ORPHA:79330
Gaucher Disease Type 2	Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough	ORPHA:77260
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Absent phalangeal crease, Fused cervical...	OMIM:618469
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul...	ORPHA:3097
Lethal Congenital Contracture Syndrome 1	Abnormal thorax morphology, Widening of cervical spinal canal, Neonatal death	OMIM:253310
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Short femur, Sandal gap, Edema, Polyhydramnios, Hypoplasia o...	OMIM:607143
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Edema, Short neck, Hypoplast...	ORPHA:2347
7Q11.23 Microduplication Syndrome	Inguinal hernia, Sacral dimple, Ventricular septal defect, Congenital diaphragmatic hernia, Short...	ORPHA:96121
White-Sutton Syndrome	Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, A...	ORPHA:468678
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir...	ORPHA:98915
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Po...	OMIM:620025
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Overlapping toe, Flexion contracture, Pectus carinatum, Scoliosis, Atrial s...	OMIM:619383
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Constricting Bands, Congenital	Omphalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Gastroschisis, Scoliosis...	OMIM:217100
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t...	OMIM:617102
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ...	OMIM:620278
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Brachydactyly, Overlapping toe, Postaxial p...	ORPHA:221120
Moebius Syndrome	Respiratory distress, Syndactyly, Brachydactyly, Short neck, Split hand, Congenital fibrosis of e...	OMIM:157900
Pseudotrisomy 13 Syndrome	Omphalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular...	OMIM:264480
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle atrophy, Restr...	OMIM:600462
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Cardiomyopathy, Dehydration	ORPHA:79312
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,...	OMIM:157800
Hypoglossia With Situs Inversus	Situs inversus totalis, Upper airway obstruction, Respiratory distress	OMIM:612776
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Pallor	OMIM:606353
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios	OMIM:611812
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Petechiae, ...	OMIM:608013
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Cl...	OMIM:617303
Dysosteosclerosis	Sclerotic scapulae, Increased intervertebral space, Abnormal metaphyseal trabeculation, Flared me...	OMIM:224300
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Flexion contracture, Thin r...	OMIM:312150
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen co...	OMIM:261740
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Spontaneous Periodic Hypothermia	Pallor, Abnormal pattern of respiration	ORPHA:29822
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger...	OMIM:186500
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Cough, Chronic sinusitis	OMIM:619607
Holoprosencephaly	Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragm...	ORPHA:2162
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia	OMIM:618067
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ...	ORPHA:210122
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Redundant skin, Kyphosis, Tibial bowin...	OMIM:616482
Kabuki Syndrome	Congenital diaphragmatic hernia, Vertebral clefting, Small hand, Hip dislocation, Hemivertebrae, ...	ORPHA:2322
Peripartum Cardiomyopathy	Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm...	ORPHA:563
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger...	ORPHA:99776
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Abnormal cardiac septum morphology, Respiratory insufficiency	OMIM:601612
Agnathia-Otocephaly Complex	Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Trac...	OMIM:202650
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum	OMIM:258850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Polyhydramnios, Congenital diaphragmatic hernia, Atrial septal defect, Abnormal ilium morphology,...	OMIM:614080
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Apla...	ORPHA:1686
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Pol...	ORPHA:314655
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Respiratory failure requiring...	OMIM:211530
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Edema, Polyhydramnios, Flexion contracture, Thin r...	OMIM:253290
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Exercise-induced rhabdomyolysis, Ventricular septal defect, Episodic tachyp...	ORPHA:26793
Chitayat Syndrome	Hallux valgus, Respiratory distress, Polyhydramnios, Pectus excavatum, Tracheomalacia, Brachydactyly	OMIM:617180
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Kyphoscoliosis...	ORPHA:98914
Fryns Syndrome	Omphalocele, Prominent fingertip pads, Ventricular septal defect, Rocker bottom foot, Proximal pl...	OMIM:229850
Bent Bone Dysplasia Syndrome 2	Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft vertebrae, Plat...	OMIM:620076
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death	OMIM:276822
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia, ...	OMIM:108720
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, ...	OMIM:105650
Arthrogryposis Multiplex Congenita 6	Death in infancy, Polyhydramnios, Respiratory failure, Death in childhood, Neonatal death, Increa...	OMIM:619334
Lymphatic Malformation 12	Inguinal hernia, Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphe...	OMIM:620014
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog...	ORPHA:226313
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn...	ORPHA:3015
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Short neck, Polyhydramnios, Thoracic dysplasia, Narrow chest, Short pa...	OMIM:269860
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Abnormal heart morphology...	ORPHA:2041
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Congenital diaphragmatic hernia	OMIM:606164
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha...	ORPHA:454836
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i...	OMIM:615994
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Evans Syndrome	Dyspnea, Pallor, Epistaxis, Petechiae	ORPHA:1959
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran...	OMIM:614779
Breath-Holding Spells	Pallor	OMIM:607578
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Inguinal hernia, Short femur, Metaphyseal spurs, Polyhydramnios, Undulate r...	OMIM:618188
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Prominent fingertip pads, Sandal gap, Dysplastic tricuspid valve, Small han...	OMIM:612863
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Joubert Syndrome With Ocular Defect	Apnea, Dextrocardia, Hand polydactyly, Foot polydactyly, Scoliosis, Abnormal vertebral morphology...	ORPHA:220493
Cutis Laxa, Autosomal Recessive, Type Ib	Dermal translucency, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Pectus exc...	OMIM:614437
C Syndrome	Omphalocele, Death in infancy, Sacral dimple, Toe syndactyly, Redundant skin, Congenital diaphrag...	ORPHA:1308
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion...	OMIM:608799
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Broad hallux, Congenital diaphragmatic hernia, Tapered finger, 1-2 toe...	OMIM:301044
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Congenital Enterovirus Infection	Respiratory distress, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops f...	ORPHA:292
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr...	ORPHA:699
Retinitis Pigmentosa 51	Polydactyly, Pallor	OMIM:613464
Succinic Acidemia	Respiratory distress	OMIM:600335
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Flexion contracture,...	ORPHA:505248
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Iniencephaly	Omphalocele, Rocker bottom foot, Congenital diaphragmatic hernia, Hyperlordosis, Polyhydramnios, ...	ORPHA:63259
Dominant Beta-Thalassemia	Bowing of the long bones, Hypoplasia of the musculature, Dyspnea, Dilated cardiomyopathy, Skin ul...	ORPHA:231226
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Meier-Gorlin Syndrome 1	Respiratory distress, Lateral clavicle hook, Flexion contracture, Flat glenoid fossa, Hemivertebr...	OMIM:224690
Oligomeganephronia	Secundum atrial septal defect, Congenital diaphragmatic hernia, Dehydration	ORPHA:2260
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic ...	ORPHA:2556
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Dyspnea, Pulmonary arterial hypertension, Pedal edema	ORPHA:422
Mgat2-Cdg	Respiratory distress, Ventricular septal defect, Pectus excavatum, Kyphosis, Hydrops fetalis, Abn...	ORPHA:79329
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Hypoplastic left heart, Apical muscular ventricula...	OMIM:301022
Catel-Manzke Syndrome	Short humerus, Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Short ...	OMIM:616145
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Oculopharyngodistal Myopathy 1	Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci...	OMIM:164310
Acute Lung Injury	Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip pads, Clin...	OMIM:135900
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Short neck, Pectus excavatum, Long fingers, Hip dislocat...	ORPHA:96092
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Axial muscle stiffness	ORPHA:240085
Monosomy 9P	Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Abnormality of the tars...	ORPHA:261112
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aortic valve a...	ORPHA:2299
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea, Hydrops fetalis	ORPHA:45452
Cleidocranial Dysplasia 1	Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti...	OMIM:119600
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Pulmonary edema, Left atrial enlargement, Dyspnea, Pulmonary venous hypertension, Inte...	ORPHA:75249
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Pulmo...	ORPHA:3260
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Edema, Tachypnea, Dilated cardiomyopathy, Dehydration, Pallor	ORPHA:20
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Pallor, Lymphedema	ORPHA:3226
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Pectus excavatum, Facial edema, Poly...	OMIM:616843
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd...	OMIM:610536
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Aplasia ...	OMIM:617088
Scarf Syndrome	Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Pectus carin...	ORPHA:3134
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Incr...	OMIM:220110
Isolated Atp Synthase Deficiency	Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:254913
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Pedal edema, Hypoxemia, Atri...	ORPHA:439
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Pallor	OMIM:615631
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Palpebral edema, Polyhydramnios, Short neck, Adducted thumb	ORPHA:50810
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Myopathy, Mitochondrial, And Ataxia	Pectus excavatum, Multiple lipomas, Distal amyotrophy, Pallor, Scoliosis, Increased variability i...	OMIM:617675
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Apnea, Abnormal pulmonary valve morphology, Abnormal rib morphology, Ab...	ORPHA:667
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Redundant neck skin, Overlapping toe, Short hallux, Sh...	ORPHA:3309
Malaria	Respiratory distress	ORPHA:673
Marden-Walker Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Arachn...	ORPHA:2461
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Lipoatrophy, Oligohydramnios	ORPHA:261304
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi...	ORPHA:308552
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia	ORPHA:250999
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Respiratory distress, Polyhydramnios	ORPHA:990
Congenital Gerbode Defect	Ventricular septal defect, Crackles, Dyspnea, Right atrial enlargement, Pedal edema, Pulmonary ar...	ORPHA:99095
Greenberg Dysplasia	Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c...	OMIM:215140
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Dravet Syndrome	Pallor, Tibial torsion	ORPHA:33069
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ...	OMIM:615067
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Respiratory insufficiency, Oligohydramnios, Congenital diaphragmatic hernia, Abnormal heart morph...	OMIM:617641
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Hypoplasia of the ...	ORPHA:96097
Sepsis In Premature Infants	Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Abnormal respiratory system physio...	ORPHA:90051
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Abnormal thorax morphology, Hypoxemia, Respiratory failure, ...	ORPHA:70587
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Apnea, Dehydration, Cardiomyopathy, Pallor, Aspiration	ORPHA:2131
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Edema, Dilated cardiomyopathy, Death in adolescence, Clubbing of finger...	OMIM:605676
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing...	ORPHA:1329
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Cardiomyopathy, Dehydration	OMIM:251000
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Cardiomegaly, Pneumothorax, Short tibia, Limb hypertonia	OMIM:620306
Osteoglophonic Dysplasia	Respiratory distress, Inguinal hernia, Short metacarpal, Hypoplastic scapulae, Camptodactyly of f...	OMIM:166250
Marshall-Smith Syndrome	Thoracic scoliosis, Apnea, Large sternal ossification centers, Distal widening of metacarpals, Co...	OMIM:602535
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Bicuspid aortic valve, Dext...	ORPHA:536545
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec...	OMIM:309801
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Episodic Ataxia Type 1	Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis	ORPHA:37612
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislo...	OMIM:300968
Diamond-Blackfan Anemia	Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Short neck, Short thumb, Part...	ORPHA:124
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Broad ribs	OMIM:612852
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str...	ORPHA:142
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Myositis, Sinusitis, Pneumonia, Edema, Myocarditis, Tachypnea, S...	ORPHA:36234
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Cutaneous ...	OMIM:311900
Dextrocardia	Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal rib morphology, Abnorm...	ORPHA:1666
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral...	OMIM:312830
Leishmaniasis	Rhinitis, Pallor, Skin ulcer	ORPHA:507
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
8Q24.3 Microdeletion Syndrome	Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck, Finger clinodac...	ORPHA:508488
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Polyhydramnios, Perimembranous ventricular septal defect, Pa...	OMIM:606812
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90037
Lujo Hemorrhagic Fever	Respiratory distress, Purpura, Crackles, Facial edema, Myocarditis, Nonproductive cough, Periorbi...	ORPHA:319213
Cornelia De Lange Syndrome	Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Congenital diaphragmatic ...	ORPHA:199
Q Fever	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus...	ORPHA:781
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome...	ORPHA:365
Beta-Ketothiolase Deficiency	Edema, Tachypnea, Dehydration, Pallor, Cough	ORPHA:134
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Death in infancy, Respiratory insufficiency due to...	OMIM:615512
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rha...	ORPHA:116
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Anemic pallor, Absent thumb, Absent radius, Short thumb, Flexion contr...	OMIM:227645
Johanson-Blizzard Syndrome	Death in infancy, Abnormal cardiac septum morphology, Dextrocardia, Edema	ORPHA:2315
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Inguinal hernia, Pulmonary arterial hypertension	OMIM:619272
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90036
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Tachypnea, Pallor, Cough, Pulmonary edema	ORPHA:137675
Restrictive Dermopathy 2	Respiratory distress, Overtubulated long bones, Short clavicles	OMIM:619793
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Degcags Syndrome	Polyhydramnios, Pallor, Atrial septal defect, Diaphragmatic eventration, Patent foramen ovale, Sy...	OMIM:619488
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent...	ORPHA:209905
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Neonatal death, Congenital di...	OMIM:194080
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous retur...	OMIM:619657
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Overlapping toe, Short neck, Small hand, Oligohydramnios, Abnormal heart mo...	ORPHA:177907
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Short n...	OMIM:601803
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Short toe, Flexion contracture, Hydrops fetalis, R...	ORPHA:333
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha...	ORPHA:100050
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Proximal placement of thumb, Patent foramen ovale, Short sternum, Clin...	OMIM:620113
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Waldenström Macroglobulinemia	Epistaxis, Periorbital edema, Respiratory insufficiency, Pedal edema, Pallor, Pleural effusion, P...	ORPHA:33226
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood	OMIM:246450
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Sprengel anomaly	OMIM:618929
Cold Agglutinin Disease	Back pain, Pallor	ORPHA:56425
Fanconi Anemia, Complementation Group E	Anemic pallor, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Complete dupl...	OMIM:600901
Nasolacrimal Duct Cyst	Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy...	ORPHA:141083
Hereditary Spherocytosis	Restrictive cardiomyopathy, Pallor, Skin ulcer	ORPHA:822
Cardiac Valvular Dysplasia 1	Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, V...	OMIM:212093
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Short humerus, Short femur, Apnea, Ragged-red musc...	ORPHA:17
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of ...	ORPHA:99106
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Contractures of the large joints, Polyhydramnios, Scoliosis	ORPHA:329178
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met...	ORPHA:99646
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Short neck, Tibial bowing, Broad ribs, Abnorm...	ORPHA:798
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Eisenmenger Syndrome	Respiratory distress, Generalized edema, Ventricular septal defect, Increased pulmonary vascular ...	ORPHA:97214
Congenital Tracheal Stenosis	Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Neonatal asphyxia...	ORPHA:141127
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Perlman Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Edema, Hypoplasia of the abdominal wall musculat...	OMIM:267000
Fanconi Anemia, Complementation Group A	Anemic pallor, Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Complete dupl...	OMIM:227650
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Contractu...	ORPHA:83617
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Orofaciodigital Syndrome Type 3	Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor...	ORPHA:2752
Absence Of The Pulmonary Artery	Orthopnea, Abnormal hemidiaphragm morphology, Cardiomegaly, Nonproductive cough, Dyspnea, Recurre...	ORPHA:980
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure	OMIM:620166
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Slc35A1-Cdg	Respiratory distress, Hypoxemia, Pneumonia, Cellulitis	ORPHA:238459
Myotonic Dystrophy 1	Respiratory distress, Facial diplegia, Polyhydramnios	OMIM:160900
Nocardiosis	Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,...	ORPHA:31204
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Leukopenia...	ORPHA:227990
Floating-Harbor Syndrome	11 pairs of ribs, Inguinal hernia, Ivory epiphyses of the distal phalanges of the hand, Brachydac...	OMIM:136140
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Carpenter Syndrome 2	Short neck, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum, Cutaneou...	OMIM:614976
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Exertional dyspnea	ORPHA:90033
Von Hippel-Lindau Disease	Back pain, Myocarditis, Macular edema, Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal...	ORPHA:892
Matthew-Wood Syndrome	Congenital diaphragmatic hernia	ORPHA:2470
Arboleda-Tham Syndrome	Respiratory distress, Secundum atrial septal defect, Long thorax, Narrow chest, Atrial septal def...	OMIM:616268
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Short fifth metatarsal, Aplasia of the right hemidiaphragm, Epistaxis, T...	OMIM:619841
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Ventricular septal defect, Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, ...	OMIM:123700
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Coccidioidomycosis	Respiratory distress, Pericarditis, Pneumonia, Cough, Atypical scarring of skin, Abnormal long bo...	ORPHA:228123
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Edema, Dyspnea, Myocarditis, Pleural empyema, Pallor, Generalized edema	ORPHA:544482
Tay-Sachs Disease	Aspiration, Pallor	OMIM:272800
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Leukopenia...	ORPHA:227982
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Refractory Anemia With Excess Blasts	Anemic pallor, Pedal edema, Exertional dyspnea	ORPHA:86839
Incontinentia Pigmenti	Scarring, Kyphoscoliosis, Erythema, Hemivertebrae, Pallor, Supernumerary ribs	OMIM:308300
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Toxic Epidermal Necrolysis	Respiratory distress, Erythema, Skin ulcer, Restrictive ventilatory defect, Cough, Abnormal myoca...	ORPHA:537
Choanal Atresia	Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A...	ORPHA:137914
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Rubinstein-Taybi Syndrome 1	Respiratory distress, Polyhydramnios, Flexion contracture, Hypoplastic iliac wing, Prominent fing...	OMIM:180849
Letterer-Siwe Disease	Dyspnea, Pallor	OMIM:246400
Witteveen-Kolk Syndrome	Inguinal hernia, Toe syndactyly, Overlapping toe, Arachnodactyly, Congenital diaphragmatic hernia...	OMIM:613406
Stüve-Wiedemann Syndrome	Respiratory distress, Bowing of the long bones, Sacral dimple, Apnea, Camptodactyly of finger, Me...	ORPHA:3206
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly	ORPHA:2707
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Tarp Syndrome	Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia...	ORPHA:2886
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Dextro...	ORPHA:1662
Childhood Absence Epilepsy	Pallor, Hyperventilation	ORPHA:64280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Posterior rib fusion, Neonatal dea...	OMIM:265380
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia	OMIM:613095
Senior-Loken Syndrome 8	Polydactyly, Pallor	OMIM:616307
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, A...	ORPHA:79282
Primary Dystonia, Dyt4 Type	Respiratory distress, Torticollis, Kyphoscoliosis	ORPHA:98805
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnor...	ORPHA:3404
Tetraamelia Syndrome 1	Gastroschisis, Hypoplastic pelvis, Congenital diaphragmatic hernia	OMIM:273395
Irida Syndrome	Pallor	ORPHA:209981
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Pyruvate Kinase Deficiency Of Red Cells	Pallor, Nonimmune hydrops fetalis	OMIM:266200
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Fanconi Anemia, Complementation Group D2	Anemic pallor, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli...	OMIM:227646
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Increased variability in muscle fiber diameter, Stridor	OMIM:615595
Colchicine Poisoning	Respiratory distress, Myocarditis, Cardiorespiratory arrest, Dehydration	ORPHA:31824
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Polyhydramnios, Flexion contracture, Recurrent pneumonia, Dehydration	OMIM:616271
Heterotaxy, Visceral, 5, Autosomal	Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial a...	OMIM:270100
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Overlapping toe, Po...	OMIM:618371
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Edema, Dyspnea, Dilated cardiomyo...	ORPHA:79404
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Pulmonary edema, Facial palsy, Elbow flexion contr...	ORPHA:79139
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Hereditary Folate Malabsorption	Skeletal muscle atrophy, Pallor	ORPHA:90045
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Respiratory distress, Edema, Cardiomegaly, Pericardial effusion, Polyhyd...	ORPHA:51608
Aregenerative Anemia	Dyspnea, Pallor	ORPHA:101096
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Adnp Syndrome	Respiratory distress, Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morphology, Abnorma...	ORPHA:404448
Myelofibrosis	Pallor, Purpura	OMIM:254450
Listeriosis	Back pain, Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Rhabdomyolysi...	ORPHA:533
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A...	OMIM:618733
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Pericarditis, Myositis, Hypoplastic scapulae, Dextrocardia, ...	ORPHA:3310
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Ramos-Arroyo Syndrome	Atrial septal defect, Xerostomia, Respiratory distress	ORPHA:1051
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Mosaic Variegated Aneuploidy Syndrome 1	Short neck, Embryonal rhabdomyosarcoma, Short sternum, Pulmonic stenosis, Atrial septal defect, O...	OMIM:257300
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Dyspnea, Ragged-red muscle fibers, Dilated cardiomyopathy, Episodic respiratory distress, ...	ORPHA:255210
Primary Ciliary Dyskinesia	Asplenia, Polysplenia	ORPHA:244
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal...	OMIM:269150
Pearson Marrow-Pancreas Syndrome	Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood	OMIM:557000
Momo Syndrome	Short sternum, Short neck	OMIM:157980
Hydrolethalus Syndrome 1	Omphalocele, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, P...	OMIM:236680
Ciliary Dyskinesia, Primary, 1	Asplenia	OMIM:244400
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Atrial septal defect, Dextrocardia	OMIM:277380
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, ...	OMIM:300166
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Dyspnea, Patellar aplasia, Abno...	ORPHA:2554
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Non-Functioning Pituitary Adenoma	Increased intraabdominal fat, Pallor	ORPHA:91349
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus	OMIM:619123
Momo Syndrome	Femoral bowing, Congenital pseudoarthrosis of the clavicle, Short sternum, Short neck	ORPHA:2563
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Chronic active hepatitis	OMIM:240300
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Respiratory distress	OMIM:231680
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Doors Syndrome	11 pairs of ribs, Respiratory distress, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Polyh...	ORPHA:79500
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis...	ORPHA:2044
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness	ORPHA:206436
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchy...	ORPHA:340
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Oromandibular Dystonia	Respiratory distress, Torticollis	ORPHA:93958
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Pleural effusion, Cough, Limb muscle weakness, Cerebral...	ORPHA:1546
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Redundant neck skin, Overlapping toe, Palmoplantar cutis laxa	OMIM:123790
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor	ORPHA:91347
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Respiratory distress, Sacral dimple, Congenital hip dislocation, Overlapping toe, ...	ORPHA:480880
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Wheezing, Rhabdomyolysis, Tachypnea, Pneumothorax, Cough, ...	ORPHA:90068
Adenohypophysitis	Pallor	ORPHA:95512
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Dehydration	OMIM:251110
Panhypophysitis	Pallor	ORPHA:95513
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Umbilical hernia	ORPHA:1555
Sweeney-Cox Syndrome	Asplenia	OMIM:617746
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Corneal scarring, Acral ulceration, Ascites	OMIM:256810
Pituitary Apoplexy	Pallor	ORPHA:95613
Elliptocytosis 1	Pallor	OMIM:611804
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Facial hypotonia	ORPHA:438216
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema	ORPHA:329971
Prolactinoma	Pallor	ORPHA:2965
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Biotinidase Deficiency	Respiratory distress, Limb muscle weakness, Apnea, Hyperventilation	ORPHA:79241
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Kyphoscoliosis, Hyperlordosis, Proximal amyotrophy, Pallor	ORPHA:653
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Dehydration	OMIM:251100
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Neurooculorenal Syndrome	Dextrocardia, Short hallux, Short 1st metacarpal, Mitral valve prolapse, Tetralogy of Fallot with...	OMIM:620305
Ethylene Glycol Poisoning	Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral...	ORPHA:31826
Plague	Respiratory distress, Edema, Skin ulcer, Endocarditis, Acute infectious pneumonia, Dry skin	ORPHA:707
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Short neck, Lymphedema, Enlarged thorax, Atrial septal defect, Short 5th m...	ORPHA:99413
Turner Syndrome	Bicuspid aortic valve, Short neck, Lymphedema, Enlarged thorax, Atrial septal defect, Short 5th m...	ORPHA:881
Mosaic Monosomy X	Bicuspid aortic valve, Short neck, Lymphedema, Enlarged thorax, Atrial septal defect, Short 5th m...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Short neck, Lymphedema, Enlarged thorax, Atrial septal defect, Short 5th m...	ORPHA:99226
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Facial hypotonia, Small hand, Intrinsic hand muscle atrophy, Short foot, Sc...	OMIM:615273
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Ascites, Polyhydramnios	OMIM:617156
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Gitelman Syndrome	Pericardial effusion, Rhabdomyolysis, Respiratory distress, Chondrocalcinosis	ORPHA:358
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Pallor, Cough, Exertional dy...	OMIM:233450
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Leptospirosis	Respiratory distress, Pericarditis, Rhabdomyolysis, Cough, Pleural effusion	ORPHA:509
Rodrigues Blindness	Nasal flaring	OMIM:268320
Knobloch Syndrome	Dextrocardia	ORPHA:1571
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure, Cardiac rhabdomyoma, Shagreen patch	ORPHA:805
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Periorbital wrinkles, Dry skin	OMIM:305100
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C...	ORPHA:564
Kasabach-Merritt Syndrome	Respiratory distress, Petechiae, Hypopnea, Purpura	ORPHA:2330
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Bile duct pro...	OMIM:249000
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Brachydactyly, Nasal flaring, Short palm	ORPHA:466943
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Xerostomia, ...	ORPHA:95455
Pmm2-Cdg	Respiratory distress, Pericarditis, Multiple joint contractures, Lipodystrophy, Kyphoscoliosis, L...	ORPHA:79318
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow chest	OMIM:614748
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Muscular dystrophy	OMIM:253280
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Short toe, Dilated car...	ORPHA:64
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia	ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hoxb4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxb4.

No publications found that use IMPC mice or data for Hoxb4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hoxb4^em1(IMPC)H	Indel	Mice
Hoxb4^em2(IMPC)H	Indel	Mice
Hoxb4^{tm417843(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hoxb4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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