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Gene: Slc29a1 MGI:1927073

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Gene Summary

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

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased erythrocyte cell number Slc29a1tm2b(NCOM)Mfgc HOM   Early adult 4.34×10-05
abnormal eye morphology Slc29a1tm2b(NCOM)Mfgc HOM Early adult 0.00
improved glucose tolerance Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.05×10-05
abnormal rib morphology Slc29a1tm2b(NCOM)Mfgc HOM Early adult 9.26×10-13
decreased prepulse inhibition Slc29a1tm2b(NCOM)Mfgc HOM Early adult 4.86×10-06
increased mean corpuscular volume Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.14×10-27
prolonged RR interval Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.67×10-05
increased grip strength Slc29a1tm2b(NCOM)Mfgc HOM   Early adult 2.45×10-05
decreased heart rate Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.13×10-05
vertebral fusion Slc29a1tm2b(NCOM)Mfgc HOM Early adult 3.43×10-10
decreased mean corpuscular hemoglobin concentration Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.08×10-07
decreased body length Slc29a1tm2b(NCOM)Mfgc HOM Early adult 7.50×10-17
decreased bone mineral density Slc29a1tm2b(NCOM)Mfgc HOM Early adult 9.18×10-05
abnormal sinus arrhythmia Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.45×10-05
short tibia Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.38×10-05
decreased total body fat amount Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.70×10-07

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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 Skull Dorso Ventral Orientation

14 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Eye Morphology

Images Slit Lamp

2 Images

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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
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Clavicul... OMIM:615198
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ... OMIM:607778
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Epiphyseal Chondrodysplasia, Miura Type
Elevated alkaline phosphatase of bone origin, Long hallux, Epiphyseal dysplasia, Broad hallux, Sc... OMIM:615923
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Genu varum, Metaphyseal irregul... OMIM:600785
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Hypophosphatasia, Adult
Low alkaline phosphatase, Increased susceptibility to fractures, Recurrent fractures, Osteomalaci... OMIM:146300
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Osteosarcoma
Abnormal metaphysis morphology, Abnormal femoral metaphysis morphology, Elevated circulating alka... ORPHA:668
Sickle Cell Anemia
Avascular necrosis, Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F... ORPHA:232
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Short neck, Decreased skull ossification, Scoliosis, Thrombocytopenia, Abnormal hemoglobi... ORPHA:3319
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Leri-Weill Dyschondrosteosis
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... OMIM:127300
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Micrognathia, Tracheomalacia, Persistence of hemoglobin F, Mitral regurgitat... OMIM:612561
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosi... ORPHA:3268
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Femoral bowing, Elevated circulating alkaline phosphatase concentration, Ost... OMIM:126550
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Type I diabetes mellitus, Pancytopenia, Increased mean corp... OMIM:620044
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... OMIM:171480
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Decreased hip abduc... ORPHA:93311
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Delayed skeletal maturation, Enlarged joints... OMIM:156530
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia OMIM:205950
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Osteogenesis Imperfecta, Type Xi
Increased susceptibility to fractures, Protrusio acetabuli, Biconcave vertebral bodies, Coxa vara... OMIM:610968
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Limb pain, Short neck, Ovoid vertebral bodie... ORPHA:93315
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, Sclerotic humera... OMIM:609052
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Hal... OMIM:135100
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Familial Expansile Osteolysis
Thin bony cortex, Elevated circulating alkaline phosphatase concentration, Osteolysis, Pathologic... OMIM:174810
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:600081
Vitamin D-Dependent Rickets, Type 3
Genu varum, Metaphyseal cupping, Elevated circulating alkaline phosphatase concentration, Bowing ... OMIM:619073
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Micrognathia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, ... OMIM:300946
Methylcobalamin Deficiency Type Cble
Clinodactyly, Hypertension, Pancytopenia, Syndactyly, Scoliosis, Macrocytic anemia, Increased mea... ORPHA:2169
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Craniofacial hyperostosis, Elevated circulating alkaline phosphatase concentratio... OMIM:122860
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... OMIM:122600
Camurati-Engelmann Disease, Type 2
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Elevated circulating alkaline... OMIM:606631
Brachydactyly, Type B1
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... OMIM:113000
Oslam Syndrome
Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnorma... ORPHA:2760
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Increased bone mineral density, Syn... ORPHA:90650
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad foot, Abnormal carpal morphology, Abnormal rib morphology, Abnormal metaphysis morphology, ... ORPHA:93351
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... ORPHA:3202
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Impaired glucose tolerance, Clinodactyly of the 5th finger, Atrioventricular bloc... OMIM:614407
Intermediate Osteopetrosis
Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, Erlenmeyer flask defor... ORPHA:210110
Hypophosphatasia, Childhood
Bowing of the legs, Low alkaline phosphatase, Rachitic rosary, Craniosynostosis OMIM:241510
Diaphanospondylodysostosis
Enlarged thorax, Short thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Narro... ORPHA:66637
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Hyporeflexia of lower limbs, Dil... OMIM:601419
Sillence Syndrome
Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ... ORPHA:3168
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Increased spinal bo... ORPHA:329475
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... ORPHA:174
Diamond-Blackfan Anemia 7
Triphalangeal thumb, Osteopenia, Macrocytic anemia, Scoliosis, Sprengel anomaly, Increased mean c... OMIM:612562
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... OMIM:616201
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Delayed skeletal maturation, Metaphyseal ... ORPHA:811
Aarskog-Scott Syndrome
Camptodactyly of finger, Broad foot, Abnormality of the cervical spine, Short foot, Finger syndac... ORPHA:915
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Aplasia/Hypop... OMIM:612447
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Majeed Syndrome
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... OMIM:609628
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... ORPHA:2635
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Hypertension, Gout, ... OMIM:610947
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy OMIM:618815
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... ORPHA:1801
Endosteal Hyperostosis, Worth Type
Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicu... ORPHA:2790
Kniest Dysplasia
Dumbbell-shaped long bone, Short neck, Enlarged joints, Delayed patellar ossification, Delayed ep... ORPHA:485
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thora... OMIM:605274
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Osteoarthritis OMIM:616833
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:241530
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Fu... ORPHA:3320
Bent Bone Dysplasia Syndrome 2
Short sternum, Short tibia, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna OMIM:144800
Short Rib-Polydactyly Syndrome
Horizontal ribs, Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Thoraci... ORPHA:1505
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Scoliosis OMIM:616276
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral fusion, Short thorax, Short long bone, Vertebral segmentation defect, Ta... OMIM:618845
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short n... ORPHA:2345
Holt-Oram Syndrome
Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morphology, Abnormality of the humerus, ... ORPHA:392
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Micrognathia, Fused cervical vertebrae, Pectus excavatum, Abnormal clavi... ORPHA:2522
Hypophosphatemic Rickets, Autosomal Dominant
Elevated circulating alkaline phosphatase concentration, Hypophosphatemic rickets, Rickets, Osteo... OMIM:193100
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... ORPHA:98870
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Arthrogryposis multiplex... OMIM:178110
Familial Pseudohyperkalemia
Stomatocytosis, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... ORPHA:90044
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Maternal diabetes, Preax... ORPHA:1988
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Paget Disease Of Bone 3
Elevated circulating alkaline phosphatase concentration, Osteolysis, Patchy osteosclerosis, Fract... OMIM:167250
Idiopathic Congenital Hypothyroidism
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... ORPHA:95717
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Type II diabetes mellitus, Fused cervical vertebrae, Abnormal sacrum morp... ORPHA:1436
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Increased susceptibility to fractures, Increased HbA2 hemoglobin... ORPHA:231222
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnor... ORPHA:79106
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Abnormality of t... ORPHA:1836
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hypoglycemia, Bradycardia, Congestive heart failure OMIM:619048
Stuve-Wiedemann Syndrome 1
Short phalanx of finger, Short tibia, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... OMIM:601559
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Bowing of the long bones, Short femur, Elevated circulatin... OMIM:602080
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Splenomegaly, Hyperinsulinemia, Flexion contracture, Spinal rigidity, Accelerated ... OMIM:613327
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia OMIM:613839
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... ORPHA:168549
Weismann-Netter Syndrome
Anemia, Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, F... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad foot, Hypoplastic sacrum, Enlargement of the costochondral junction, Genu valgum, Metaphyse... OMIM:271650
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Retinal hemorrhage, Pedal edema, Abnormal mean corpuscular volume, Palpit... ORPHA:86839
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... OMIM:307800
Developmental And Speech Delay Due To Sox5 Deficiency
2-3 toe syndactyly, Vertebral fusion, Butterfly vertebrae, Thoracic kyphoscoliosis, Mitral regurg... ORPHA:313892
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, Toe syndactyly, Hip dysplasia, Elb... OMIM:616809
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Dominant Beta-Thalassemia
Genu valgum, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Bulging of... OMIM:264700
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Brachydactyly OMIM:618879
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome OMIM:617182
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Decreased... OMIM:616829
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Abnormality of alkaline phosphatase level, Flared iliac wing... OMIM:300106
X-Linked Hypophosphatemia
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... ORPHA:89936
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, S... OMIM:618469
16Q24.3 Microdeletion Syndrome
Kyphosis, Micrognathia, Hip dysplasia, Dilated cardiomyopathy, Mitral regurgitation, Proximal pla... ORPHA:261250
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... OMIM:619232
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Coxa valga, Broad ribs, Elevated circulating alkaline phosphatase concen... OMIM:269300
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middl... OMIM:309620
Diastrophic Dysplasia
Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla... ORPHA:628
Beta-Thalassemia Major
Genu valgum, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular... ORPHA:231214
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... OMIM:127550
Spondylocostal Dysostosis 4, Autosomal Recessive
Bell-shaped thorax, Vertebral fusion, Short thorax, Block vertebrae, Vertebral segmentation defec... OMIM:613686
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... OMIM:108720
Timothy Syndrome
Syndactyly, Prolonged QT interval, Hypoglycemia, Bradycardia, Cutaneous syndactyly OMIM:601005
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... OMIM:609616
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Cervical ribs, Short neck, Delayed skeletal maturation, Scol... ORPHA:2332
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Abnormality of the calcaneus, Micr... ORPHA:40366
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... OMIM:614022
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... OMIM:617222
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Metaphyseal irregularity, Bulging of the costochondral junction, Recurrent frac... OMIM:277440
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... ORPHA:2064
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu varum, Genu valgum, Coxa valga, Elevated circulating alkaline phosphatase concentration, Hyp... OMIM:613312
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... OMIM:259440
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Micrognathia, Pectus excavatum, Dislocated radial head, Radial de... OMIM:268310
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Fusion of midcervical facet joints, Widening of cervical spinal cana... OMIM:606842
Ring Chromosome 21 Syndrome
Small hand, Thoracic hemivertebrae, Abnormal thorax morphology, Clinodactyly, Syndactyly, Scolios... ORPHA:1445
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... ORPHA:370010
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:312150
Blackfan-Diamond Anemia
Triphalangeal thumb, Acute myeloid leukemia, Leukopenia, Absent thumb, Reticulocytopenia, Short t... ORPHA:124
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short metacarpal, Severe pl... OMIM:608940
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Abnormal epiphysis morphology, Bradycardia, Umb... ORPHA:226313
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Rhizomelia, Narrow chest, Micrognathia, Abnormal clavicle morphology, Short neck, Pr... ORPHA:93267
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiac arrest, Neonatal hypoglycemia, Premature ventricular contraction, Hypoglycem... OMIM:212138
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Flexion contracture, Thoracic hypoplasia, Coxa valga, Micrognathia, Epiphyseal stipp... ORPHA:96334
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Syndactyly, Aborted sudden cardiac death... OMIM:618447
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Short tibia, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Spondylocarpotarsal Synostosis Syndrome
Short neck, Delayed skeletal maturation, Limited elbow extension, Scapular winging, Talipes equin... OMIM:272460
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation OMIM:614302
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... OMIM:223800
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia, Micromelia OMIM:610015
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Thoracic hypoplasia, Coxa vara, Rhizomelia, Short femoral neck, Proximal fe... OMIM:602271
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... OMIM:607155
Hypophosphatasia, Infantile
Vertebral clefting, Low alkaline phosphatase, Increased susceptibility to fractures, Metaphyseal ... OMIM:241500
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Pulmonary insufficiency, Recurrent ... OMIM:166210
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Accelerated skeletal maturation, Narrow chest, Ab... ORPHA:1354
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Increased bone mineral densit... OMIM:259700
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Narrow chest, Toe syndactyly, Abnormal pelvic girdle b... ORPHA:474
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Verheij Syndrome
Vertebral fusion, Short 5th finger, Clinodactyly, Hip dislocation, Short neck, Scoliosis, Hemiver... OMIM:615583
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Micrognathia, Joint contracture, Bradycardia OMIM:614498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... OMIM:606612
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Atelosteogenesis Type Iii
Short tibia, Thoracic hypoplasia, Patellar dislocation, Short tubular bones of the hand, Vertebra... ORPHA:56305
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Necrotizing Enterocolitis
Hypotension, Abnormal glucose homeostasis, Shock, Leukocytosis, Hyperglycemia, Thrombocytopenia, ... ORPHA:391673
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Abnormal sternum morphology, Genu valgum, Rhizomelia, Fixed elbow flexi... ORPHA:166016
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, Hallux valgus, Micrognathia, Hip dislocation, Short neck, Knee dislocation,... OMIM:618000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Type II diabetes mellitus, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corp... OMIM:616860
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... OMIM:305620
Infant Acute Respiratory Distress Syndrome
Hypotension, Cardiac arrest, Abnormal thorax morphology, Bradycardia, Tachycardia ORPHA:70587
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Grant Syndrome
Joint dislocation, Narrow chest, Micrognathia, Abnormal cortical bone morphology, Abnormality of ... ORPHA:2097
Hemochromatosis, Type 4
Anemia, Impaired glucose tolerance, Diabetes mellitus, Arrhythmia, Glucose intolerance, Osteoarth... OMIM:606069
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Short femur, ... OMIM:607143
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Thoracic hypoplasia, Hypoplastic pubic bone, Short long bone, Lumbar hyper... OMIM:608728
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... OMIM:244600
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Metaphyseal cupping, Pear-... OMIM:602111
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Familial Thyroid Dyshormonogenesis
Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Abnormal epiphy... ORPHA:95716
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Metaphyseal irregularity, Genu valgum, Anterior rib cupping, Coxa vara, Hypoplasti... OMIM:184250
Eisenmenger Syndrome
Pedal edema, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations, ... ORPHA:97214
Cln3 Disease
T-wave inversion, Bradycardia, Vacuolated lymphocytes ORPHA:228346
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Joint dislocation, Recurrent fractures, Osteomalacia, Coarse metaphyseal... ORPHA:93160
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Spondylometaphyseal Dysplasia, Kozlowski Type
Flared iliac wing, Elbow flexion contracture, Irregular capital femoral epiphysis, Short neck, De... OMIM:184252
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... OMIM:619658
Chromosome 8Q22.1 Duplication Syndrome
Short phalanx of finger, Hallux valgus, Short metacarpal, Limitation of joint mobility, Joint sti... OMIM:151200
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Omphalocele, Preaxial hand polydactyly, Finger syndactyly, Patel... ORPHA:3329
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Weight loss ORPHA:178029
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... ORPHA:1106
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Tako-Tsubo Cardiomyopathy
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... ORPHA:66529
Caudal Regression Syndrome
Missing ribs, Maternal diabetes, Hypertension, Hypoplastic vertebral bodies, Abnormal pelvic gird... ORPHA:3027
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... OMIM:115200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... OMIM:618395
Atrial Standstill 2
Scarring, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wav... OMIM:615745
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyly, Lateral clav... OMIM:617405
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... OMIM:612576
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Anterior rib cupping... OMIM:260400
Achondrogenesis Type 1B
Umbilical hernia, Short thorax, Femoral hernia, Abnormal enchondral ossification, Narrow chest, M... ORPHA:93298
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Patellar dislocation, Kyphosis, Clinodactyly of the 5th finger, Vaginal hernia,... ORPHA:2916
Eiken Syndrome
Broad femoral neck, Pseudoepiphyses, Long hallux, Flat acetabular roof, Delayed ossification of c... OMIM:600002
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Rickets OMIM:611590
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Mucopolysaccharidosis Type 4
Coxa valga, Grayish enamel, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Abn... ORPHA:582
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... ORPHA:90652
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia OMIM:614702
Cartilage-Hair Hypoplasia
Heart block, Abnormal distal phalanx morphology of finger, Short neck, Delayed skeletal maturatio... ORPHA:175
Occipital Horn Syndrome
Delayed cranial suture closure, Coxa valga, Large iliac wing, Scarring, Hip dislocation, Abnormal... ORPHA:198
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short tibia, Rhizomelia, Short ribs, Short long bone, Flat a... OMIM:616300
Pseudo-Torch Syndrome 2
Thrombocytopenia, Bradycardia, Cerebral hemorrhage, Thin ribs OMIM:617397
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Bradycardia, Diabetes mellitus, Arrhythmia OMIM:609286
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... OMIM:118100
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal EKG, Congestive heart... ORPHA:330001
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Thoracic hypoplasia, Short 4th metacarpal, Camptodactyly, Broad hallux, Limb und... OMIM:618019
Autosomal Dominant Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Bowing of the legs, Rickets, Osteomalacia ORPHA:89937
Hypophosphatasia
Anemia, Recurrent fractures, Craniosynostosis, Narrow chest, Abnormal metaphysis morphology, Bowi... ORPHA:436
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... ORPHA:3203
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia OMIM:206100
Proximal Spinal Muscular Atrophy
Knee flexion contracture, Flexion contracture, Multiple joint contractures, Thoracic kyphosis, El... ORPHA:70
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs,... OMIM:263520
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Oncogenic Osteomalacia
Increased susceptibility to fractures, Abnormality of the tarsal bones, Abnormal vertebral morpho... ORPHA:352540
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Dyschondrosteosis And Nephritis
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity OMIM:127350
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Beta-Thalassemia
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcy... ORPHA:848
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... OMIM:609945
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Platyspondyly, Micromelia, S... ORPHA:168555
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Thin bony cortex, Increased susceptibility to fract... ORPHA:289157
Acromesomelic Dysplasia 4
Short phalanx of finger, Beaking of vertebral bodies, Thoracic platyspondyly, Lumbar hyperlordosi... OMIM:619636
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... OMIM:265000
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion OMIM:214300
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Short thorax, Co... ORPHA:2484
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased susceptibility to fractures, Hyperlordosis, Abnormal long bone morphology, Elevated cir... ORPHA:52430
Achondrogenesis Type 1A
Umbilical hernia, Short thorax, Short foot, Recurrent fractures, Abnormal enchondral ossification... ORPHA:93299
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Micrognathia, Radial bowing, Lower limb undergrowth, ... ORPHA:3035
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Plantar pits, Vertebral wedging, Scoliosis, Brachydactyly, Hemi... ORPHA:377
Larsen Syndrome
Spatulate thumbs, Hip dislocation, Pectus excavatum, Talipes equinovalgus, Elbow dislocation, Bip... OMIM:150250
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Protrusio acetabuli, Dentinogenesis imperfecta, Bowing of limbs ... OMIM:259420
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... ORPHA:239
Kenny-Caffey Syndrome, Type 1
Anemia, Delayed closure of the anterior fontanelle, Thin clavicles, Short foot, Small hand, Calva... OMIM:244460
Gorham-Stout Disease
Elevated alkaline phosphatase of bone origin, Osteomyelitis, Abnormal bone ossification, Abnormal... ORPHA:73
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Limb undergrowth, Short nec... OMIM:151210
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Broad foot, Toe syndactyly, Pectus excavatum, Hypoglycemia, Short neck, ... ORPHA:373
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Hypertrophic cardiomyopathy, Thrombocytopenia, Bradycardia, Normoch... OMIM:618775
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Hyperinsulinism Due To Hnf1A Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Ketotic hypoglycemia, Syncope, Maternal diabetes, Hyp... ORPHA:324575
Basal Cell Nevus Syndrome 1
Bifid ribs, Polydactyly, Abnormal sternum morphology, Vertebral fusion, Short 4th metacarpal, Pla... OMIM:109400
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Congenital foot contractures, Neonatal hypoglycemia, Prominent calcaneus, Scoliosis... ORPHA:565624
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... ORPHA:2911
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Broad foot, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregu... OMIM:250420
Alkaptonuria
Vertebral fusion, Kyphosis, Arthropathy, Arthritis, Limited hip movement, Limited shoulder moveme... OMIM:203500
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening ORPHA:1513
Osteogenesis Imperfecta, Type X
Thin bony cortex, Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Dentinogenesis ... OMIM:613848
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, Micrognathia, Acetabular dysplasia, Short neck, Cer... OMIM:616549
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Widely patent coronal ... OMIM:228520
Abnormal Hair, Joint Laxity, And Developmental Delay
2-3 toe syndactyly, Clinodactyly of the 4th toe, Lower limb pain, Increased carrying angle, Clino... OMIM:261990
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Supernumerary vertebrae, Short ribs, Block vertebrae, Missing ribs, Inguinal he... OMIM:271520
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Osteomalacia,... OMIM:300554
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... OMIM:250220
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance, Superior rib anomalies OMIM:307500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome ORPHA:542306
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Tetanus
Tachycardia, Stiff neck, Bradycardia, Hypertension ORPHA:3299
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Osteolysis, Periostitis, Osteopenia, Joint... OMIM:612852
Omodysplasia 1
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... OMIM:258315
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, S... OMIM:613091
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelic arm shortening, Iliac crest serration, Cone-shaped epiphysis, Short metacarpal, Narrow... ORPHA:93317
Hypophosphatemic Bone Disease
Rickets, Bowing of the legs, Osteomalacia OMIM:146350
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Frontometaphyseal Dysplasia
Short diaphyses, Camptodactyly of finger, Short phalanx of finger, Wrist flexion contracture, Mic... ORPHA:1826
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... OMIM:253010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Broad foot, Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Delayed skel... OMIM:300232
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Clin... OMIM:156400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoketotic hypoglycemia, Hyperinsulinemia, Syncope, Maternal diabetes, Type I diabetes mellitus,... ORPHA:276580
Fibrous Dysplasia Of Bone
Thin bony cortex, Coxa vara, Abnormality of femur morphology, Osteomalacia, Abnormality of the hu... ORPHA:249
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, C... OMIM:253000
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Abnormality of tibia morpho... ORPHA:64755
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... ORPHA:1797
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Back pain, Abnormal cardiac ventricular function, Hyp... ORPHA:439232
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Combined Oxidative Phosphorylation Deficiency 39
Ankle clonus, Flexion contracture, Type I diabetes mellitus, Scoliosis, Joint contracture, Arthro... OMIM:618397
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Short humerus, Short palm, Short toe, Ac... OMIM:250215
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Elevated alkaline phosphatase of bone origin, Abnormal pelvic girdle bone morphology, Paget disea... OMIM:167320
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Abnormal circulating enzyme concentrati... ORPHA:79303
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micr... OMIM:215140
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, ... OMIM:617925
Acro-Renal-Mandibular Syndrome
Pectus carinatum, Finger syndactyly, Kyphosis, Hypoplasia of the radius, Micrognathia, Hip disloc... ORPHA:958
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Abno... OMIM:619356
Osteogenesis Imperfecta, Type Viii
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... OMIM:610915
Delta-Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia ORPHA:231237
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Thoracic hypoplasia, Fractured radius, Short ribs, Multiple rib fractures, M... OMIM:616897
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Short humerus, Ankylosis, Elevated... OMIM:239000
Dysosteosclerosis
Short diaphyses, Delayed closure of the anterior fontanelle, Micrognathia, Sclerotic scapulae, Hy... OMIM:224300
Cartilage-Hair Hypoplasia
Limited elbow extension, Short palm, Lumbar hyperlordosis, Narrow vertebral interpedicular distan... OMIM:250250
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Boudin-Mortier Syndrome
Elevated alkaline phosphatase of bone origin, Mallet finger, Pseudoepiphysis of the 1st metacarpa... OMIM:619543
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Thoracic hypoplasia, Advanced ossification of carpal bones, Lateral cl... OMIM:269250
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Delayed skeletal maturation, Brachydactyly, Abnormal rib morphology, Abnormal ... ORPHA:2643
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Neonatal hypoglyc... OMIM:261740
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Metatarsus valgus, Kyphosis, Toe syndactyly, Micrognathia, Aplasia/Hypoplasia of toe, Aplasia/Hyp... ORPHA:3082
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Osteomalacia, Bowing of the legs, Rachitic rosary, ... ORPHA:157215
Dermatosparaxis Ehlers-Danlos Syndrome
Joint dislocation, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Os... ORPHA:1901
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... OMIM:619484
3M Syndrome
Horizontal ribs, Enlarged thorax, Short neck, Delayed skeletal maturation, Abnormal metaphysis mo... ORPHA:2616
Lateral Meningocele Syndrome
Vertebral fusion, Biconcave vertebral bodies, Kyphosis, Keloids, Micrognathia, Joint hypermobilit... OMIM:130720
Cholestasis-Lymphedema Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated hepatic transaminase OMIM:214900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Devi... OMIM:143095
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic... OMIM:614524
Orofaciodigital Syndrome Ix
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly OMIM:258865
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Talipes equinovarus, Be... OMIM:200600
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Recurrent fractures, Short long bone, Multiple rib fractures, Microretrognathia, Join... OMIM:616229
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly OMIM:615234
Juberg-Hayward Syndrome
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... ORPHA:2319
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Tibial bowing, Fe... ORPHA:93356
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormality of the elbow, Micrognathia, Slender long bone, Abnormal cortical... ORPHA:1486
Asymmetric Short Stature Syndrome
Micrognathia, Lumbar scoliosis, Hemihypotrophy of lower limb, Fused cervical vertebrae OMIM:108450
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Micrognathia, Hip disloc... OMIM:268305
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short toe, Flexion contracture, Micrognathia, HbH hemoglobin, Short neck, Microcytic anemia, Pect... ORPHA:98791
Bardet-Biedl Syndrome 9
Obesity, Polyphagia, Polydipsia, Truncal obesity OMIM:615986
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure... ORPHA:563
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Increased susceptibility to fractures, Epiphyseal streaking, Dentinogenesis imperfecta, Delayed c... OMIM:604922
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Micrognathia, Joint laxity, Fe... OMIM:617952
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Micrognathia, Pectus excavatum, Overlapping toe, Short neck, Postaxial hand polydactyly, Beaking ... OMIM:213980
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Distal shortening of l... OMIM:300863
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... OMIM:619897
Sepsis In Premature Infants
Hypotension, Anemia, Tachycardia, Leukocytosis, Thrombocytopenia, Neutropenia, Bradycardia, Splen... ORPHA:90051
Cenani-Lenz Syndrome
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... ORPHA:3258
Autosomal Recessive Hypophosphatemic Rickets
Elevated alkaline phosphatase of bone origin, Genu varum, Coxa vara, Rickets of the lower limbs, ... ORPHA:289176
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia ORPHA:464453
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Flexion contracture, Coxa valga, Hallux valgus, Advanced ossification of carpal ... OMIM:271640
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Kniest Dysplasia
Dumbbell-shaped long bone, Hip dislocation, Pectus excavatum, Short neck, Enlarged joints, Flatte... OMIM:156550
Mucopolysaccharidosis, Type Vi
Hypoplastic acetabulae, Flexion contracture, Sinus tachycardia, Flared iliac wing, Anterior wedgi... OMIM:253200
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Bell-shaped thorax, Hypoplastic iliac wing, Irregular vertebral endplates, Irreg... OMIM:187760
Mosaic Trisomy 14
Camptodactyly of finger, Narrow chest, Micrognathia, Short neck, Abnormal rib morphology, Lower l... ORPHA:1703
Cantú Syndrome
Umbilical hernia, Coxa valga, Finger syndactyly, Cuboid-shaped vertebral bodies, Accelerated skel... ORPHA:1517
Cyanosis, Transient Neonatal
Methemoglobinemia, Anemia, Reticulocytosis OMIM:613977
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmentation defect... ORPHA:2311
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circ... OMIM:235555
Disorder Of Bile Acid Synthesis
Rickets, Elevated hepatic transaminase ORPHA:79168
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Hip dislocation, Pectus excavatum, Joi... ORPHA:96169
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia OMIM:619272
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... OMIM:615633
Ivic Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Shor... ORPHA:2307
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Lujo Hemorrhagic Fever
Hypotension, Leukopenia, Myocarditis, Stiff neck, Lymphopenia, Shock, Leukocytosis, Thrombocytope... ORPHA:319213
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Elevated circulating alkaline phosphatase concentration, Osteoporosis, Osteopenia ORPHA:529665
Hyperparathyroidism, Transient Neonatal
Recurrent fractures, Undulate ribs, Short ribs, Short long bone, Short femur, Elevated circulatin... OMIM:618188
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Camptodactyly, Butterfly vertebrae, Posterior rib gap, Short neck, Thrombocytopenia... OMIM:611209
Kyphomelic Dysplasia
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Talipes equinovarus, Ptery... OMIM:211350
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:846
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Vertebral fusion, Radial club hand, Preaxial hand polydactyly, Finger syndac... ORPHA:959
Cooper-Jabs Syndrome
Camptodactyly of finger, Missing ribs, Congenital diaphragmatic hernia, Proximal placement of thu... ORPHA:1488
Autosomal Recessive Kenny-Caffey Syndrome
Delayed cranial suture closure, Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of... ORPHA:93324
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Radial bowing, Abnormal thorax morphology, Lateral humeral co... OMIM:164900
Multiple Synostoses Syndrome 1
2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f... OMIM:186500
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Flexion contracture, Limited hip extension, Corneal scarring, Hypertension, B... OMIM:614653
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Narrow pelvis bone, Delayed skeletal maturation, Limited elbow extension, Pseudoepiphyses of the ... OMIM:210720
Koolen-De Vries Syndrome
Sacral dimple, Vertebral fusion, Kyphosis, Hip dysplasia, Hip dislocation, Positional foot deform... OMIM:610443
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Kbg Syndrome
Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis, Clinodactyly of the 5th finger, Cerv... OMIM:148050
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Syndactyly, Rib fusion, Sprengel a... OMIM:173800
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae OMIM:608681
Polycythemia Vera
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... OMIM:263300
Myhre Syndrome
Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Vertebral fusion, Short long bone, Short f... OMIM:139210
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... ORPHA:79302
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Thickened ribs, Asymmetric septal hypertrophy, Dense calvaria, Ing... OMIM:252900
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Elevated circulating alkaline phosphatase concentration, Paget disease of bone OMIM:615422
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... ORPHA:85170
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Metatars... OMIM:227330
Cleidocranial Dysplasia
Tapered finger, Micrognathia, Hypoplastic inferior ilia, Spina bifida occulta, Abnormal rib morph... ORPHA:1452
D-Glyceric Aciduria
Hypoglycemia, Bradycardia OMIM:220120
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Scoliosis, Arachnodactyly, Intervertebral disc degeneration, Knee osteoarthritis OMIM:619656
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Pectus excavatum, Abn... OMIM:602196
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Toe syndactyly, Fused cervical vertebrae, Broad hall... OMIM:184460
Fibrochondrogenesis
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Short ribs, Narrow chest, Brachydactyly,... ORPHA:2021
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Preaxial hand polydactyly, Vertebral segmentation defect, Abnormal thumb mor... ORPHA:1120
Cholestasis, Benign Recurrent Intrahepatic, 2
Elevated circulating alkaline phosphatase concentration, Jaundice, Intrahepatic cholestasis OMIM:605479
Congenital Disorder Of Glycosylation, Type Iij
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Elevated hepatic transa... OMIM:613489
Osteogenesis Imperfecta