Gene Summary

Name:
solute carrier family 29 (nucleoside transporters), member 1
Synonyms:
ENT1,  1200014D21Rik,  NBMPR-sensitive equilibrative nucleoside transporter

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal rib morphology Slc29a1tm2b(NCOM)Mfgc HOM Early adult 9.26×10-13
abnormal eye morphology Slc29a1tm2b(NCOM)Mfgc HOM Early adult 0.00
decreased body length Slc29a1tm2b(NCOM)Mfgc HOM Early adult 7.45×10-17
improved glucose tolerance Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.36×10-05
decreased total body fat amount Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.70×10-07
abnormal sinus arrhythmia Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.45×10-05
decreased bone mineral density Slc29a1tm2b(NCOM)Mfgc HOM Early adult 9.22×10-05
vertebral fusion Slc29a1tm2b(NCOM)Mfgc HOM Early adult 3.43×10-10
short tibia Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.38×10-05
decreased mean corpuscular hemoglobin concentration Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.01×10-07
decreased heart rate Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.13×10-05
decreased erythrocyte cell number Slc29a1tm2b(NCOM)Mfgc HOM   Early adult 4.61×10-05
increased mean corpuscular volume Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.26×10-27
prolonged RR interval Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.67×10-05
increased grip strength Slc29a1tm2b(NCOM)Mfgc HOM   Early adult 1.69×10-05
decreased prepulse inhibition Slc29a1tm2b(NCOM)Mfgc HOM Early adult 5.59×10-06

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Slit Lamp

2 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Eye Morphology

Images Ophthalmoscopy

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Histopathology

Images

2 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Human diseases caused by Slc29a1 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.

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

The table below shows human diseases predicted to be associated to Slc29a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Sclerotic vertebral endplates, Elevated circulating alkaline phosphatase... OMIM:615198
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Osteopenia, Fifth finger distal phalanx clinodactyly, Broad hallux, Long ha... OMIM:615923
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Hypophosphatasia, Adult
Chondrocalcinosis, Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractu... OMIM:146300
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal femoral metaphysis morphology... ORPHA:668
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Van Buchem Disease
Thickened cortex of long bones, Elevated circulating alkaline phosphatase concentration, Increase... OMIM:239100
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Radioulnar synostosis, Abnormal... ORPHA:3268
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Tracheomalacia, Short thumb, Persistence of hemoglobin F, Micr... OMIM:612561
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Paget Disease Of Bone 4
Osteolysis, Elevated circulating alkaline phosphatase concentration OMIM:606263
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... ORPHA:93311
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Osteopenia, Femoral bowing, Elevated circulating alkaline phosphatase concentratio... OMIM:126550
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,... OMIM:610968
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... ORPHA:93315
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Osteogenesis Imperfecta, Type Vi
Bowing of the arm, Increased susceptibility to fractures, Biconcave vertebral bodies, Joint hyper... OMIM:613982
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler... ORPHA:210110
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Ectopic ossification i... OMIM:135100
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Low back pain, Short neck, Supernumerary rib... OMIM:122600
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Pancytopenia, Macrocytic anemia, Neutropenia, Os... ORPHA:2169
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Familial Expansile Osteolysis
Pathologic fracture, Elevated circulating alkaline phosphatase concentration, Bowing of the long ... OMIM:174810
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:600081
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Metaphyseal cupping, Flared metaphysis, Elevated circulating alkaline phosphatase con... OMIM:619073
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Elevated circulating ... OMIM:122860
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t... ORPHA:90650
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Long fingers, B... OMIM:614407
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Oslam Syndrome
Radioulnar synostosis, Abnormality of neutrophils, Clinodactyly of the 5th finger, Increased mean... ORPHA:2760
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Chess-pawn distal phalanges, Broad thumb, Short fin... ORPHA:3168
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Hip contracture, Knee flexion contracture, Elevated circulating alkalin... OMIM:606631
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t... ORPHA:66637
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hyporefl... OMIM:601419
Hypophosphatasia, Childhood
Low alkaline phosphatase, Craniosynostosis, Rachitic rosary, Bowing of the legs OMIM:241510
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Long Qt Syndrome 15
Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve... OMIM:616249
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Diamond-Blackfan Anemia 7
Osteopenia, Increased mean corpuscular volume, Short thumb, Macrocytic anemia, Triphalangeal thum... OMIM:612562
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Short neck, Neutropeni... OMIM:105650
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Brachydactyly, Elevated circulating alkaline phosphatase concentration OMIM:618879
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Aarskog-Scott Syndrome
Genu recurvatum, Small hand, Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Conges... ORPHA:915
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation... OMIM:616201
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Fibular... OMIM:612447
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... ORPHA:1801
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Osteopenia, Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, ... OMIM:620076
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Gout, Type II diabetes mellitus, Osteoporosis, Sudden cardiac death, Hyperte... OMIM:610947
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Shwachman-Diamond Syndrome
Aplastic anemia, Abnormal joint morphology, Pancytopenia, Impaired neutrophil chemotaxis, Acute m... ORPHA:811
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, ... ORPHA:2635
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Short long bone, Short thorax, Vertebral fusi... OMIM:618845
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Delayed cranial suture closure, Umbilical hernia, Delayed proximal... ORPHA:95717
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Cervical ribs, Fibular aplasia, Mi... ORPHA:3320
Majeed Syndrome
Delayed skeletal maturation, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Erythroid hype... OMIM:609628
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:241530
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Osteoarthritis OMIM:616833
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Scoliosis, Bradycardia OMIM:616276
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Radioulnar synostosis, Abnormal metacarpal morphology, Sprengel a... ORPHA:392
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Abnormal clavicle morphology, Abnormal hip bone morphology, Mic... ORPHA:2522
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Persistence of he... OMIM:617052
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo... ORPHA:1988
Developmental And Speech Delay Due To Sox5 Deficiency
Pectus carinatum, Lumbar hyperlordosis, Butterfly vertebrae, Mitral regurgitation, 2-3 toe syndac... ORPHA:313892
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Short neck,... OMIM:178110
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... ORPHA:1972
Stuve-Wiedemann Syndrome 1
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones,... OMIM:601559
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo... ORPHA:98870
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Type II diabetes mellitus, Brachydactyly, Abnormal sacrum morphology, Sco... ORPHA:1436
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Elevated circulating alkaline phosphatase concentration, Osteo... OMIM:193100
Acquired Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:95626
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Elevated circulating alkaline phosphatase con... OMIM:167250
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Osteopenia, Hyperinsulinemia, Splenomegaly, Lipodystrophy, Tachycardia, Prolo... OMIM:613327
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Toe syndactyly, Elbow flexion contracture, Elevated circulating alkaline phosphatase ... OMIM:616809
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormal rib mor... ORPHA:1836
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation... OMIM:613686
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Palpitations, Leukocytosis, Anemia of inadequate production, Ac... ORPHA:86839
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O... OMIM:307800
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Delayed skeletal maturation, Pes cavus, Increased HbA2 hemoglobin, Incr... OMIM:616943
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... OMIM:602080
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231226
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Talipes equinovarus, Short neck, Fused thoracic vertebrae, Antecubital pterygi... OMIM:618469
Central Diabetes Insipidus
Weight loss, Polydipsia, Failure to thrive, Anorexia ORPHA:178029
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Micrognathia, Knee contracture, Bradycardia, Hip contracture, Thoracic s... OMIM:620351
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Bulgi... OMIM:264700
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Talipes, Tal... OMIM:108720
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia OMIM:618235
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... OMIM:609616
Christian Syndrome
Thoracic hemivertebrae, Glucose intolerance, Fused cervical vertebrae, Scoliosis, Short middle ph... OMIM:309620
Craniometadiaphyseal Dysplasia
Osteopenia, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of skull base, Genu valgum... OMIM:269300
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Bile Acid Conjugation Defect 1
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619232
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:616829
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Micrognathia, Mitral regurgitation, Th... ORPHA:261250
Kbg Syndrome
Delayed skeletal maturation, Finger clinodactyly, Persistent open anterior fontanelle, Cervical r... ORPHA:2332
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Elevated circulating alkaline phosphatase concentratio... ORPHA:89936
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Beta-Thalassemia Major
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... ORPHA:231214
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Glycogen Storage Disease Iv
Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Talipes equinovarus, Bradycardia, Flexio... OMIM:232500
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Camptodactyly of ... ORPHA:356961
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Abnormality of the calcaneus, Micrognathia, Aplasia/hypoplas... ORPHA:40366
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia... OMIM:127550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Splenomegaly, Thrombocytopenia, Clubbing OMIM:620367
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to... ORPHA:370010
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Fusion of midcervical facet joints, Widening of cervical spinal canal, Global sys... OMIM:606842
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Kyphosis, Bowing of limbs due to mult... OMIM:259440
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vert... ORPHA:1445
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... ORPHA:2064
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fractures, ... OMIM:312150
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Bulgi... OMIM:277440
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Calf muscle hypertrophy, Thigh hypertrophy, Hyperlordosis, Achilles tendo... OMIM:607155
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Pulmonary arterial hypertension, Ventricular tachycardia, C... OMIM:601005
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... OMIM:251230
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol... ORPHA:93267
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... OMIM:602271
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Absent thumb, Persistence... ORPHA:124
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, G... OMIM:613312
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Accele... ORPHA:1354
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Decre... ORPHA:330001
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Micrognathia, Ventral hernia, Short neck, Pes planus, Hip dislocation, Osteopenia, At... OMIM:618000
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Congestive... OMIM:166210
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Micromelia, Bradycardia OMIM:610015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Elbow contracture, Calf muscle hypertrophy, Thigh hypertrophy, Hyperlordosis, Achilles tendon con... OMIM:606612
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... OMIM:619217
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Premature ventricular contract... OMIM:212138
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Micrognathia, Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Micrognathia, Increased susceptibility to fractures, ... OMIM:253290
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Multiple Epiphyseal Dysplasia, Lowry Type
Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Abnormal sternum morphology, S... ORPHA:166016
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly of the 5th finger... OMIM:244600
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Infant Acute Respiratory Distress Syndrome
Hypotension, Abnormal thorax morphology, Bradycardia, Tachycardia, Cardiac arrest ORPHA:70587
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Increased susce... OMIM:241500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Umbilical hernia, Bradycardia, Ab... ORPHA:226313
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho... ORPHA:1106
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Arrhythmia, Osteoarthritis, Anemia, Diabetes mellitus, Impai... OMIM:606069
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Sync... OMIM:163800
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior... OMIM:608728
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Broad thumb, Limitation of joint mobility, Interphalangeal joint contracture of ... OMIM:151200
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Joint stiffness, Missin... ORPHA:3027
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Limitation of joint mobility, Finger syndac... ORPHA:3329
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... OMIM:616860
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Osteoma... ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Hypoglycemia, Butterfly vertebrae, Short humerus, Short ribs... OMIM:607143
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Joint dislocation, O... ORPHA:93160
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Sandwich appearance of vertebral bodie... OMIM:259700
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad... OMIM:600002
Eisenmenger Syndrome
Elevated jugular venous pressure, Clubbing, Pedal edema, Right ventricular failure, Tricuspid reg... ORPHA:97214
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint... OMIM:618395
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Abnormal bone ossification, Neutropenia, Diaphy... ORPHA:175
Mucopolysaccharidosis Type 4
Genu valgum, Hernia, Bowing of the long bones, Short neck, Pectus carinatum, Joint dislocation, D... ORPHA:582
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Shwachman-Diamond Syndrome 1
Narrow chest, Proximal femoral epiphysiolysis, Delayed skeletal maturation, Persistence of hemogl... OMIM:260400
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Pseudo-Torch Syndrome 2
Thin ribs, Cerebral hemorrhage, Thrombocytopenia, Bradycardia OMIM:617397
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Clin... ORPHA:2916
Familial Thyroid Dyshormonogenesis
Abnormal epiphysis morphology, Delayed cranial suture closure, Umbilical hernia, Delayed proximal... ORPHA:95716
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:619658
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Microretrognathia, Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydac... OMIM:616300
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn... OMIM:118100
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Micromelia, Umbilical hernia, Abnormal rib morpho... ORPHA:93298
Occipital Horn Syndrome
Synostosis of joints, Osteomalacia, Delayed cranial suture closure, Humerus varus, Genu valgum, P... ORPHA:198
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia OMIM:614702
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Diabetes mellitus, Cardiomyopathy, Bradycardia OMIM:609286
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly... OMIM:263520
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr... OMIM:615745
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormal rib morphology, Anemia, Craniosynostosis, Abnorm... ORPHA:436
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Necrotizing Enterocolitis
Hypotension, Shock, Hyperglycemia, Leukocytosis, Bradycardia, Abnormal glucose homeostasis, Throm... ORPHA:391673
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Abnormal rib morphology, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of... ORPHA:3035
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... OMIM:274000
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... OMIM:150250
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... ORPHA:848
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Proximal Spinal Muscular Atrophy
Absent patellar reflexes, Elbow flexion contracture, Multiple joint contractures, Knee flexion co... ORPHA:70
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Severe limb shortening, Radial bowing, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Abnormality of alkaline ph... OMIM:190350
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Rickets, Elevated circulating alkaline phosphatase concentration, Osteomalacia ORPHA:89937
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Congenital diaph... OMIM:265000
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae OMIM:214300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:620375
Oncogenic Osteomalacia
Abnormal vertebral morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal fem... ORPHA:352540
Osteogenesis Imperfecta, Type X
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thora... OMIM:613848
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Melnick-Needles Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Anisospondyly, Narrow chest, Abnormal ... ORPHA:2484
Verheij Syndrome
Short 5th finger, Clinodactyly, Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion,... OMIM:615583
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating alkaline phosphatase concentration,... OMIM:620366
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval ORPHA:542306
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis OMIM:613702
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Prominent calcaneus, Bradycardia, Neonatal hypoglycemia, Scoliosis, Congenital foot... ORPHA:565624
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Plantar pits, Vertebral wedging, Abnormal sternum morphology, ... OMIM:109400
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared, irregular rib ends, S... ORPHA:168555
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Delayed skeletal maturation, Decreased skull ossificati... OMIM:244460
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Kyphosis, Slender long bone, Micrognathia, Bowing of limbs ... OMIM:259420
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,... ORPHA:73
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia OMIM:206100
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphragmatic hernia, Broad foot, Tali... ORPHA:373
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Pathologic fracture, Increased susceptibility to fractures, Elevated circulating alkaline phospha... ORPHA:52430
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Micromelia, Umbilical hernia, Micrognathia, Multi... ORPHA:93299
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot... OMIM:250420
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela... OMIM:619774
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fifth metatarsal, Increased carrying angle, Tricuspid regurgitation, Lower limb pain, Mitra... OMIM:261990
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... ORPHA:1826
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, M... OMIM:253010
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, ... OMIM:616549
Poland Syndrome
Acute leukemia, Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Congenital diap... ORPHA:2911
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Missing ribs, R... OMIM:271520
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Broad ribs, Splenomegaly, Joint swelling, Flaring of rib ... OMIM:612852
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Superior rib anomalies, Glucose intolerance, Abnormality of the cervical spine OMIM:307500
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Arrhythmia, ... OMIM:250220
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Persistent fetal circulation, Thrombocytopenia, Bradycardia, Normoch... OMIM:618775
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Fibrochondrogenesis 1
Thin ribs, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Broad long bones, Sho... OMIM:228520
Glycosylphosphatidylinositol Biosynthesis Defect 17
Clinodactyly of the 5th toe, Osteomyelitis, Clinodactyly of the 5th finger, Abnormality of alkali... OMIM:618010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat... OMIM:300232
Omodysplasia 1
Axillary pterygium, Rhizomelia, Popliteal pterygium, Short tibia, Limited knee flexion/extension,... OMIM:258315
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Ankle clonus, Joint contract... OMIM:618397
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Hypoketotic hypoglycemia, R... ORPHA:324575
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Atrioventricular block, Cone-shaped epiphysis, Narrow chest, Abnormal scapula morp... ORPHA:93317
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Polyarticular arthritis, Osteomalacia, Ric... ORPHA:289176
Becker Nevus Syndrome
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern... ORPHA:64755
Tetanus
Stiff neck, Tachycardia, Hypertension, Bradycardia ORPHA:3299
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Vertebral segmentation defect, Missing ribs, Short neck, Hyperlordosis, ... ORPHA:1797
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Joint dislocation, Osteomalacia, Abnormal joint morphology, Joint stiffness,... ORPHA:1901
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Micrognathia, Horizontal ribs, Long thorax, Fibu... OMIM:617925
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul... ORPHA:958
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Type I diabetes mellitus, Abnormal oral glucose tolerance, Hypertrophic cardiomyopathy, Hyperinsu... ORPHA:276580
Fibrous Dysplasia Of Bone
Rickets, Abnormal rib morphology, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnor... ORPHA:249
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Micrognathia, Bell-sha... OMIM:614524
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Abnormal pelvic girdle bone morphology, Lumbar hyperlordosis, Paget disease of bone, Elevated alk... OMIM:167320
Boudin-Mortier Syndrome
Clinodactyly, Pseudoepiphysis of the 1st metacarpal, Long hallux, Mallet finger, Pseudoepiphyses ... OMIM:619543
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Pathologic fracture, Elevated circulating alkaline phosphatase c... OMIM:156400
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Delayed skeletal maturation,... ORPHA:2616
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Abnormality of alkaline phosphata... OMIM:619356
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... ORPHA:79303
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... OMIM:615234
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Lateral Meningocele Syndrome
Keloids, Umbilical hernia, Sclerosis of skull base, Micrognathia, Inguinal hernia, Biconcave vert... OMIM:130720
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lymphopenia, Narrow vertebral interpedicular distance, Neutro... OMIM:250250
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Delayed skeletal maturation, Enamel hypoplasia, Brachydactyly, Neu... ORPHA:2643
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Dysosteosclerosis
Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, A... OMIM:224300
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Rachitic rosary, Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Elevated alkaline p... ORPHA:157215
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Hypertrophic cardiomyopathy, D... OMIM:616897
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Increased bone mineral density, Elevated circulating alkaline phosphatase c... OMIM:239000
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu... OMIM:619484
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Pes planus, Beaking of vertebral ... OMIM:213980
Bardet-Biedl Syndrome 9
Polyphagia, Obesity, Polydipsia, Truncal obesity OMIM:615986
Cholestasis-Lymphedema Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... OMIM:214900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Gorlin Syndrome
Abnormal vertebral morphology, Plantar pits, Vertebral wedging, Abnormal rib morphology, Arachnod... ORPHA:377
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Peripartum Cardiomyopathy
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Pe... ORPHA:563
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Elbow dislocation, Genu valgum, Mitral regurgitation, Barrel-shaped chest,... OMIM:143095
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... OMIM:156550
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Acquired Methemoglobinemia
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Mitral regurgi... OMIM:271640
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Pectus carinatum, HbH hemoglobin, Short toe, Microcytic anemia, Micrognathia, Talipes equinovarus... ORPHA:98791
Alkaptonuria
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A... OMIM:203500
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Mi... OMIM:253200
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Micrognathia, Femoral bowing, Biconcave vertebral bodies, Joint hype... OMIM:617952
Mosaic Trisomy 14
Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Short neck, Abnormal r... ORPHA:1703
Lathosterolosis
2-3 toe cutaneous syndactyly, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis,... OMIM:607330
Sepsis In Premature Infants
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Thrombocytopenia, Neutropenia, Anemia, Tach... ORPHA:90051
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta... OMIM:187760
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Deep plantar crea... ORPHA:1517
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Corneal scarring, Talipes equinovarus, Bradycardia, Retinal hemorrhage, Tachycard... OMIM:614653
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Joint hypermobility, Bowi... OMIM:616229
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Talipes equinovarus, Short ... OMIM:611209
Alpha-Thalassemia
Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemoglobin Barts, Hepa... ORPHA:846
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal form of the vertebral bodies, Umbilical hernia, Camptodactyly of fing... ORPHA:2311
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Prominent fingertip pads, Sacral dimple, Positional foot deformity, Spo... OMIM:610443
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Undulate ribs, Elevated ... OMIM:618188
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra... OMIM:615633
Koolen-De Vries Syndrome
Kyphosis, Abnormal dental enamel morphology, Joint hypermobility, Arachnodactyly, Vertebral segme... ORPHA:96169
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Lujo Hemorrhagic Fever
Hypotension, Stiff neck, Lymphopenia, Leukopenia, Shock, Leukocytosis, Thrombocytopenia, Bradycar... ORPHA:319213
Cooper-Jabs Syndrome
Umbilical hernia, Camptodactyly of finger, Abnormal hip bone morphology, Congenital diaphragmatic... ORPHA:1488
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia OMIM:619272
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis ORPHA:163596
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Delayed skeletal maturation, Delayed cranial suture closure, Decreased sku... ORPHA:93324
Myhre Syndrome
Aortic valve stenosis, Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinod... OMIM:139210
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Kbg Syndrome
Radial deviation of finger, Delayed skeletal maturation, Cervical ribs, Ulnar deviation of the 2n... OMIM:148050
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decreased mobility 3rd-5th fin... OMIM:164900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me... OMIM:210720
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Poland Syndrome
Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, Hemivertebrae, Unilateral brac... OMIM:173800
Nestor-Guillermo Progeria Syndrome
Thin ribs, Micrognathia, Mitral regurgitation, Limited elbow movement, Flexion contracture, Right... OMIM:614008
Mucopolysaccharidosis, Type Iiia
Umbilical hernia, Joint stiffness, Inguinal hernia, Splenomegaly, Thickened ribs, Ovoid thoracolu... OMIM:252900
Nephronophthisis 9
Polydipsia OMIM:613824
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Shallow acetabular fossae, Limitation of joint mobility, Cardiomyopathy, Br... OMIM:252600
Stapes Ankylosis With Broad Thumbs And Toes