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
decreased heart rate Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.13×10-05
decreased mean corpuscular hemoglobin concentration Slc29a1tm2b(NCOM)Mfgc HOM Early adult 3.47×10-10
vertebral fusion Slc29a1tm2b(NCOM)Mfgc HOM Early adult 3.43×10-10
decreased bone mineral density Slc29a1tm2b(NCOM)Mfgc HOM Early adult 9.18×10-05
decreased body length Slc29a1tm2b(NCOM)Mfgc HOM Early adult 7.50×10-17
increased mean corpuscular volume Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.14×10-27
abnormal rib morphology Slc29a1tm2b(NCOM)Mfgc HOM Early adult 9.26×10-13
increased grip strength Slc29a1tm2b(NCOM)Mfgc HOM   Early adult 4.89×10-07
prolonged RR interval Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.67×10-05
abnormal eye morphology Slc29a1tm2b(NCOM)Mfgc HOM Early adult 0.00
short tibia Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.38×10-05
improved glucose tolerance Slc29a1tm2b(NCOM)Mfgc HOM Early adult 2.21×10-05
abnormal sinus arrhythmia Slc29a1tm2b(NCOM)Mfgc HOM Early adult 1.45×10-05
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 Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

11 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Hind Leg and Hip

1 Images

Histopathology

Images

2 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
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis, Elevated circulating alkaline phosphatase concentration, Metaphyseal dysplasia OMIM:615198
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth... OMIM:118651
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Hypophosphatasia, Adult
Low alkaline phosphatase, Recurrent fractures, Increased susceptibility to fractures, Osteomalaci... OMIM:146300
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... ORPHA:668
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density, Elevated ci... OMIM:239100
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Avascular n... ORPHA:232
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Short thorax, Abnormal rib morphology, Vertebral fusion, Abnormali... OMIM:613686
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... ORPHA:3268
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Phocomelia, Absent radius, Fibular hypoplasia, Lateral clavicle... OMIM:171480
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Coxa valga, M... OMIM:609052
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Abnormal form of the vertebral bodies, Decreased skull ossification, Anemia, Scoliosi... ORPHA:3319
Diamond-Blackfan Anemia 6
Tracheomalacia, Mitral regurgitation, Triphalangeal thumb, Short thumb, Micrognathia, Increased m... OMIM:612561
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Multiple Epiphyseal Dysplasia Type 5
Genu varum, Premature osteoarthritis, Joint stiffness, Decreased hip abduction, Delayed proximal ... ORPHA:93311
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Femoral bowing, Elevated... OMIM:126550
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... OMIM:600081
Spondylocostal Dysostosis 5
Missing ribs, Supernumerary ribs, Short neck, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Abnormal bone ossification, Iron deficiency anemi... ORPHA:93315
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral compression fracture, Joint laxity, Vertebral wedging, Increased susceptibi... OMIM:610968
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Intermediate Osteopetrosis
Recurrent fractures, Sandwich appearance of vertebral bodies, Erlenmeyer flask deformity of the f... ORPHA:210110
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Short neck... OMIM:601559
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Osteoporosis, Abnormal rib morphology, Micromelia, Abnormal joint morphology, Genu va... ORPHA:93351
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Short palm, In... ORPHA:90650
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Familial Expansile Osteolysis
Bowing of the long bones, Thin bony cortex, Osteolysis, Pathologic fracture, Elevated circulating... OMIM:174810
Vitamin D-Dependent Rickets, Type 3
Genu varum, Bowing of the legs, Osteopenia, Metaphyseal cupping, Flared metaphysis, Elevated circ... OMIM:619073
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Joint stiffness, Abno... ORPHA:1801
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Camurati-Engelmann Disease, Type 2
Osteopenia, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Hip contracture, Ele... OMIM:606631
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Tapered finger, Joint contracture of the 5th finger, Long fingers... OMIM:614407
Diaphanospondylodysostosis
Missing ribs, Short neck, Short thorax, Absent or minimally ossified vertebral bodies, Narrow pel... ORPHA:66637
Methylcobalamin Deficiency Type Cble
Pancytopenia, Clinodactyly, Osteoporosis, Neutropenia, Scoliosis, Increased mean corpuscular volu... ORPHA:2169
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short tibia, Delaye... OMIM:612447
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Hyporef... OMIM:601419
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Oslam Syndrome
Abnormality of neutrophils, Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean... ORPHA:2760
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Dislocated radial head, Abnormal foot morphology, Abn... OMIM:605274
Metatropic Dysplasia
Abnormal cortical bone morphology, Joint stiffness, Camptodactyly of finger, Abnormal enchondral ... ORPHA:2635
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Sudden cardiac death, Myocardial infarction, Glucose intolerance, Hypertension, Dia... OMIM:610947
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Micrognathia OMIM:221950
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Scoliosis, Hypertrophic cardiomyopathy OMIM:616276
Dehydrated Hereditary Stomatocytosis
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... ORPHA:3202
Sillence Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal proximal phalanx morphology... ORPHA:3168
Aarskog-Scott Syndrome
Talipes, Finger syndactyly, Short palm, Short neck, Pes planus, Clinodactyly of the 5th finger, A... ORPHA:915
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Hypophosphatasia, Childhood
Bowing of the legs, Craniosynostosis, Rachitic rosary, Low alkaline phosphatase OMIM:241510
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged epiphyses, Abnormal joint morphology, Delayed patellar ossifica... ORPHA:485
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, Delayed cr... ORPHA:95717
Diamond-Blackfan Anemia 7
Osteopenia, Triphalangeal thumb, Short thumb, Osteoporosis, Neutropenia, Scoliosis, Increased mea... OMIM:612562
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Flexion contracture OMIM:618815
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture, Inguinal hernia, Micrognathia OMIM:614498
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Tarsal synostosis, 2-3 toe syndactyly, Hypoplastic vert... OMIM:263540
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Recurrent fractures, Increased spinal bo... ORPHA:329475
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short ribs, Thin ribs, Femoral bowing, Elevated circulating alkaline phosphatase conc... OMIM:618188
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion,... OMIM:610017
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Flexion contracture, Osteomyelitis, Joint swelling, Erythr... OMIM:609628
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Arrhythmia, Asymme... ORPHA:1350
Holt-Oram Syndrome
Abnormal rib morphology, Scoliosis, Abnormality of the humerus, Phocomelia, First degree atrioven... ORPHA:392
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Flexion contracture, Insulin resistance, Hyperinsulinemia, Osteopenia, Osteoporosi... OMIM:613327
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Talipes, Clinodactyly of the 5th finge... ORPHA:1836
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Type II dia... ORPHA:1436
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short thorax, Talipes equinovarus, Vertebral fusion, Short long bone, Vertebral se... OMIM:618845
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Shwachman-Diamond Syndrome
Pancytopenia, Chronic neutropenia, Anemia, Abnormal joint morphology, Diabetes mellitus, Aplastic... ORPHA:811
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... OMIM:241530
Short Rib-Polydactyly Syndrome
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... ORPHA:1505
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Femoral-Facial Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Abnormality of pelvic girdle bone morp... ORPHA:1988
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Paget Disease Of Bone 6
Osteoarthritis, Recurrent fractures, Elevated circulating alkaline phosphatase concentration OMIM:616833
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Apla... ORPHA:168549
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... ORPHA:3320
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Hypoglycemia, Congestive heart failure OMIM:619048
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordosis, Abnormal clavicle morphology, ... ORPHA:2522
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short neck, Preaxial polydactyly, Mesomelic leg shortening, Oligod... ORPHA:2756
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Rickets, Osteo... OMIM:193100
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Melena, Abnormal erythrocyte morphology,... ORPHA:98870
Hyperostosis Frontalis Interna
Elevated circulating alkaline phosphatase concentration, Hyperostosis frontalis interna OMIM:144800
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Absent radius, Oligodactyly, Abnormal rib morphology, Micrognathia,... OMIM:251230
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Butterfly vertebrae, 2-3 toe syndactyly, Lumbar hyperlordosis, Scoliosis... ORPHA:313892
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... OMIM:264700
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Glucose intolerance, Scoliosis, Short middle phalanx of finger, Fused ce... OMIM:309620
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia OMIM:617248
Paget Disease Of Bone 3
Fractures of the long bones, Patchy osteosclerosis, Osteolysis, Elevated circulating alkaline pho... OMIM:167250
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Sacral dimple, Abnormal form of the vertebral bodies, Tarsal synostosis, Posteri... ORPHA:2064
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Mesomelic ... OMIM:609616
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density, Rickets OMIM:241520
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Osteopenia, High-output congestive heart failure, Splenomegaly,... ORPHA:231222
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, 11 pairs of ribs, Thoracic platyspondyly,... OMIM:108720
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Diastrophic Dysplasia
Abnormal rib morphology, Micrognathia, Micromelia, Scoliosis, Hip dysplasia, Bowing of the long b... ORPHA:628
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Dominant Beta-Thalassemia
Bowing of the long bones, Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular ... ORPHA:231226
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Timothy Syndrome
Hypoglycemia, Cutaneous syndactyly, Prolonged QT interval, Bradycardia, Syndactyly OMIM:601005
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Syndactyly, Sudden cardiac death, Syncope, Prolonged... OMIM:618447
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Fractures of the long bones, Abnormality of pelvic girdle bone morpholo... OMIM:602080
Craniometadiaphyseal Dysplasia
Genu varum, Wormian bones, Coxa valga, Osteopenia, Sclerosis of skull base, Elevated circulating ... OMIM:269300
X-Linked Hypophosphatemia
Genu varum, Upper limb metaphyseal widening, Rachitic rosary, Flattening of the talar dome, Genu ... ORPHA:89936
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Micrognathia,... ORPHA:56305
Spondyloepiphyseal Dysplasia Tarda
Knee pain, Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Limb... ORPHA:93284
Beta-Thalassemia Major
Bowing of the long bones, Dilated cardiomyopathy, Hepatosplenomegaly, Decreased mean corpuscular ... ORPHA:231214
Kbg Syndrome
Thoracic kyphosis, Cervical ribs, Short neck, Cutaneous syndactyly, Persistent open anterior font... ORPHA:2332
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Ring Chromosome 21 Syndrome
Clinodactyly, Abnormal thorax morphology, Fused thoracic vertebrae, Scoliosis, Small hand, Thorac... ORPHA:1445
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Acute myeloid leukemia, Abnormal mean corpuscular volume, Palpi... ORPHA:86839
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly, Low alkaline phosphatase OMIM:618879
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated hepatic transaminase, Elevated circulating alkaline phosphatas... OMIM:616829
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Cervical ribs, Radial deviation of finger, Vertebral arch anomal... OMIM:148050
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Kyphosis, Micrognathia, Scoliosis, Proximal placement of thumb, Increased... ORPHA:261250
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Acitretin/Etretinate Embryopathy
Bradycardia, Aplasia/hypoplasia involving bones of the lower limbs, Third degree atrioventricular... ORPHA:40366
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Microgn... OMIM:312150
Osteogenesis Imperfecta, Type Ii
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... OMIM:166210
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fixed elbow flexion, Fibular hypoplasia, Dislocated radial he... ORPHA:166016
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Short distal phalanx of the... ORPHA:370010
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic il... OMIM:223800
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Short neck, Abnormality of epiphysis morphology, Rhizomelia, Decreased ... ORPHA:93267
Hyperphosphatasia With Mental Retardation Syndrome 6
Clinodactyly, Shortening of all distal phalanges of the fingers, Flexion contracture, 2-3 toe syn... OMIM:616809
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Abnormality of epiphysis morphology, Bradycardi... ORPHA:226313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Thigh hypertrophy, Scoliosis, Vertebral fus... OMIM:606612
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Kyphosis, Abnormal left ventricular function... OMIM:607155
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib mo... ORPHA:1354
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Pes planus... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Fe... OMIM:602111
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Verheij Syndrome
Clinodactyly, Short neck, Short 5th finger, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislo... OMIM:615583
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Abnormal thorax morphology, Bradycardia, Tachycardia ORPHA:70587
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Microgn... OMIM:253290
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Glutamine Deficiency, Congenital
Micromelia, Bradycardia, Camptodactyly, Flexion contracture OMIM:610015
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Pes planus, Clinodactyly of the 5th finger, Inguinal hernia, ... OMIM:272460
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Brachydactyly, Flat capital femoral epi... OMIM:601560
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Abnormal rib cage morphology, Scoliosis, Narrow greater sci... OMIM:184252
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Hypoglycemia, Cardiac arrest, Premature ventricular contraction, Ventricul... OMIM:212138
Cardiospondylocarpofacial Syndrome
Brachydactyly, Carpal synostosis, Joint laxity, Cone-shaped epiphysis, Pseudoepiphyses, Scoliosis... OMIM:157800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Hernia of the abdominal wall, Mi... ORPHA:96334
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Long foot, Partial fusion of ta... OMIM:305620
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Micrognathia, Inguinal hernia, Scoliosis... OMIM:268310
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Coxa valga, Osteopenia, ... ORPHA:356961
Grant Syndrome
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... ORPHA:2097
Congenital Disorder Of Glycosylation, Type Ig
Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short tibia, Short humerus, Butterf... OMIM:607143
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Rhizomelia, Splenomegaly, Proximal femoral metaphyseal ... OMIM:602271
Keratoconus Posticus Circumscriptus
Brachydactyly, Short neck, Clinodactyly of the 5th finger, Limited elbow extension and supination... OMIM:244600
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Bulging epi... OMIM:277440
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Atrial Standstill 2
Atrial standstill, Scarring, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave... OMIM:615745
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Joint stiffness, Short palm, Short metacarpal, Li... OMIM:151200
Caudal Regression Syndrome
Missing ribs, Abnormality of pelvic girdle bone morphology, Joint stiffness, Hypoplastic vertebra... ORPHA:3027
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Vaginal hernia, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic verte... ORPHA:2916
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morphology, Delayed cr... ORPHA:95716
Blackfan-Diamond Anemia
Absent thumb, Leukopenia, Short neck, Thrombocytosis, Triphalangeal thumb, Erythroid hypoplasia, ... ORPHA:124
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Carpal bone hypoplasia, Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femor... OMIM:618395
Hemochromatosis, Type 4
Arrhythmia, Osteoarthritis, Anemia, Cardiomyopathy, Diabetes mellitus, Glucose intolerance, Impai... OMIM:606069
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Micrognathia... ORPHA:93298
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Platyspondyly, Micromelia, Flared, irregular rib ends, Limitation of joint mobility, ... ORPHA:168555
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Corneal scarring, Limited hip extension, Hand clenching, Bradycardia, Tachyc... OMIM:614653
Osteopetrosis, Autosomal Recessive 1
Increased circulating lactate dehydrogenase concentration, Craniosynostosis, Increased bone miner... OMIM:259700
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Mucopolysaccharidosis Type 4
Hernia, Abnormal rib morphology, Scoliosis, Spinal canal stenosis, Genu valgum, Bowing of the lon... ORPHA:582
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Short neck, Osteopenia, Rhizomelia, Abnormal rib morphology, Micro... OMIM:611209
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Cone-shaped capital femoral epiphysis, Metaphyseal widening, Brachydactyly, Thoracic kyphosis, Sh... OMIM:300232
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Abnormal hip bone morphology, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:93160
Illum Syndrome
Bradycardia, Arthrogryposis multiplex congenita OMIM:208155
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Diabetes mellitus, Arrhythmia OMIM:609286
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... OMIM:118100
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Decreased cranial ... OMIM:151210
Otopalatodigital Syndrome Type 2
Carpal synostosis, Short thumb, Abnormal rib morphology, Micrognathia, Scoliosis, Narrow chest, S... ORPHA:90652
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Anemia, Patellar dis... OMIM:274000
Necrotizing Enterocolitis
Leukocytosis, Shock, Hypotension, Neutropenia, Bradycardia, Hyperglycemia, Thrombocytopenia, Abno... ORPHA:391673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Type II diabetes m... OMIM:616860
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Eiken Syndrome
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... OMIM:600002
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Sprengel anomaly, Fused cervical vertebrae OMIM:214300
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259420
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Disproportionate shortening of the tibia, Short long bone, Short ... OMIM:263520
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Occipital Horn Syndrome
Pes planus, Osteoporosis, Osteomalacia, Inguinal hernia, Scoliosis, Scarring, Narrow chest, Genu ... ORPHA:198
Achondrogenesis Type 1A
Short neck, Short thorax, Short palm, Abnormal enchondral ossification, Recurrent fractures, Micr... ORPHA:93299
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619658
Proximal Spinal Muscular Atrophy
Thoracic kyphosis, Flexion contracture, Absent patellar reflexes, Multiple joint contractures, Br... ORPHA:70
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Hypoglycemic seizures, Fasting hypoglycemia, Neonatal hypoglycemia, Hyperin... ORPHA:324575
Cartilage-Hair Hypoplasia
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... ORPHA:175
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Splenomegaly, Abnormal... ORPHA:3035
Lateral Meningocele Syndrome
Wormian bones, Short neck, Kyphosis, Sclerosis of skull base, Micrognathia, Pectus excavatum, Joi... OMIM:130720
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thoracic platyspondyly, Third degree atri... OMIM:619636
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Shwachman-Diamond Syndrome 1
Pancytopenia, Enlargement of the costochondral junction, Anterior rib cupping, Ovoid vertebral bo... OMIM:260400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Inguinal hernia, Hypoplastic iliac wi... OMIM:609945
Gorlin Syndrome
Brachydactyly, Vertebral wedging, Plantar pits, Arachnodactyly, Scoliosis, Vertebral fusion, Hemi... ORPHA:377
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Inguinal hernia, Pointed proximal second through fifth metacarpals, Scoliosis, Meta... OMIM:253010
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Glucose intolerance, Hyperglycemia, Superior rib anomalies OMIM:307500
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Block vertebrae, Short neck, Short ribs, Thin ribs, Supernumerary vertebrae, Inguin... OMIM:271520
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Pe... OMIM:258860
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Joint hyperflexibility, Cone-shaped epiphyses... ORPHA:2484
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Cupped ribs, Narrow iliac wing, Genu varum, Scoliosis, Metaphyseal widening, Genu valgum, Brachyd... OMIM:250420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Basal Cell Nevus Syndrome
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... OMIM:109400
Spondylometaphyseal Dysplasia, Sedaghatian Type
Accelerated skeletal maturation, Short palm, Arrhythmia, Short metacarpal, Rhizomelic arm shorten... ORPHA:93317
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Osteomalacia, sclerosing, with cerebral calcification
Generalized osteosclerosis, Increased bone mineral density, Osteomalacia OMIM:259660
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Rickets OMIM:611590
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia ORPHA:89937
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Hypertrophic cardiomyopathy, Palpi... ORPHA:276580
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciati... OMIM:250220
Fibrochondrogenesis 1
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... OMIM:228520
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Diaphyseal thickening, Abnormal rib morphology ORPHA:1513
Combined Oxidative Phosphorylation Defect Type 39
Ankle clonus, Neonatal hypoglycemia, Scoliosis, Congenital foot contractures, Bradycardia, Promin... ORPHA:565624
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Posterior rib fusion, Hyperlo... ORPHA:1797
Simpson-Golabi-Behmel Syndrome
Hypoglycemia, Clinodactyly of the 5th finger, Bundle branch block, Abnormal rib morphology, Ingui... ORPHA:373
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Hypophosphatasia
Bowing of the long bones, Craniosynostosis, Recurrent fractures, Abnormal rib morphology, Anemia,... ORPHA:436
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Genu varum, Enlargement of the costochondral junction, Sparse bone tra... ORPHA:289157
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Metaphyseal widening, Fi... OMIM:613091
Omodysplasia 1
Umbilical hernia, Short neck, Popliteal pterygium, Fibular hypoplasia, Rhizomelia, Increased fibu... OMIM:258315
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of long bone morphology, Increased susceptibility to fractures, Hyperlordosis, Osteol... ORPHA:52430
Abnormal Hair, Joint Laxity, And Developmental Delay
Sinus bradycardia, 2-3 toe syndactyly, Tricuspid regurgitation, Joint hypermobility, Increased ca... OMIM:261990
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss ORPHA:178029
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... ORPHA:2911
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Short neck, Flexion contracture, Thoracolumbar scoliosis, Microg... OMIM:616549
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Inguinal hernia, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposi... OMIM:265000
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Abnormality of fibula morphology... ORPHA:352540
Frontometaphyseal Dysplasia
Pes valgus, Limitation of knee mobility, Camptodactyly of finger, Micrognathia, Pes cavus, Scolio... ORPHA:1826
Tetanus
Bradycardia, Tachycardia, Stiff neck, Hypertension ORPHA:3299
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Lipoatrophy, Pectus excavatum, Micromelia, Scoliosis, Abnormality o... ORPHA:64755
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Decreased calvarial ossification, Hypoplastic pubic bone, Short long bone, Short... OMIM:617925
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Alkaptonuria
Limitation of knee mobility, Kyphosis, Intervertebral disc degeneration, Vertebral fusion, Arthro... OMIM:203500
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Beta-Thalassemia
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Anemia, Abnormal hemoglobin, Thromb... ORPHA:848
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Spars... OMIM:300554
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Left ventricular outflow tract obstruction, Hypertrophic cardi... ORPHA:439232
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Elevated alkaline phosphatase... ORPHA:73
Kenny-Caffey Syndrome, Type 1
Short palm, Delayed closure of the anterior fontanelle, Thin ribs, Decreased skull ossification, ... OMIM:244460
Mucopolysaccharidosis, Type Iva
Large elbow, Osteoporosis, Inguinal hernia, Pointed proximal second through fifth metacarpals, Sc... OMIM:253000
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Multiple prenatal fractures, Decreased skull ossification, Ingu... OMIM:610915
Greenberg Dysplasia
Talipes, Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Decreased s... OMIM:215140
Mucopolysaccharidosis, Type Vi
Avascular necrosis, Inguinal hernia, Hypoplastic iliac wing, Anterior wedging of L2, Metaphyseal ... OMIM:253200
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Polyarticular arthritis, Enlargement of the wrist... ORPHA:289176
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Metaphyseal Chondrodysplasia, Jansen Type
Bowing of the long bones, Osteopenia, Short ribs, Clinodactyly of the 5th finger, Pathologic frac... OMIM:156400
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnorm... ORPHA:2319
Fibrous Dysplasia Of Bone
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... ORPHA:249
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Wormian bones, Recurrent fractures, Vertebral... OMIM:617952
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Finger syndactyly, Short neck, K... ORPHA:958
3M Syndrome
Horizontal ribs, Clinodactyly of the 5th finger, Micromelia, Scoliosis, Enlarged thorax, Scapular... ORPHA:2616
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Short neck, Flexion contracture, Multiple prenatal fractures, Osteopenia, Short ri... OMIM:616897
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Short neck, Metatarsus valgus, Abnormality of epiphysis morphology, Kyphosis, Apl... ORPHA:3082
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thin ribs, Rhizomelia, Decreased sku... OMIM:300863
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Neutrophilia, Splenomegaly, Flaring of rib cage, Osteomyelitis, Osteolys... OMIM:612852
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Clinodactyly of the 3rd toe, Asymmetry of the thorax, Delayed closure of the anter... OMIM:604922
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:1486
Asymmetric Short Stature Syndrome
Hemihypotrophy of lower limb, Fused cervical vertebrae, Micrognathia, Lumbar scoliosis OMIM:108450
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Pes planus, Narrow vertebral interpedicular distan... OMIM:143095
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Bradycardia, Normochromic anemia, Persistent fetal circulation, Thro... OMIM:618775
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hy... OMIM:187760
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of finger, Abnormality of alkaline phosphatase level, Short distal phalanx o... OMIM:619356
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Thin ribs, Bradycardia, Thrombocytopenia OMIM:617397
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Dermatosparaxis Ehlers-Danlos Syndrome
Coxa valga, Osteopenia, Joint stiffness, Joint dislocation, Osteoporosis, Osteomalacia, Scoliosis... ORPHA:1901
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopat... OMIM:261740
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphos... OMIM:239000
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Hand polydactyly, Short tibia OMIM:258865
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Short ribs, Hypoplastic scapulae, Hypoplasia of the radius, Decre... OMIM:200600
Cantú Syndrome
Accelerated skeletal maturation, Coxa valga, Finger syndactyly, Short neck, Ovoid vertebral bodie... ORPHA:1517
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Rachi... ORPHA:157215
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Cupped ribs, Carpal synostosis, Radial head subluxation, Pes planus, 11 pairs of ribs, Osteoporos... OMIM:271640
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Anemia, Pedal... ORPHA:563
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemia, Hypertrophic cardiomyopathy, Palpi... ORPHA:276575
Congenital Bile Acid Synthesis Defect Type 2
Increased circulating lactate dehydrogenase concentration, Hepatic failure, Jaundice, Abnormal en... ORPHA:79303
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae, Rib fusion OMIM:608681
Cholestasis-Lymphedema Syndrome
Elevated circulating alkaline phosphatase concentration, Elevated hepatic transaminase, Jaundice OMIM:214900
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology, Enamel hypoplasia, Abnormal rib morphology, N... ORPHA:2643
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Fanconi Renotubular Syndrome 2
Elevated alkaline phosphatase of bone origin, Osteopenia, Rickets OMIM:613388
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Finger syndactyly, Short thorax, Short neck, Kyphosis, Abnormal form of the ver... ORPHA:2311
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Talipes,... ORPHA:959
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Bell-... OMIM:615633
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Elevated hepat... OMIM:619484
Poland Syndrome
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Unilateral oligodactyly, Hemivertebrae, R... OMIM:173800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Short neck, Flexion contracture, Micrognathia, HbH hemoglobin, Short toe, Pect... ORPHA:98791
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Decreased skull ossification, Thin clavicles, Stenosis of the medullary cavity of the ... ORPHA:93324
Mosaic Trisomy 14
Short neck, Camptodactyly of finger, Abnormal rib morphology, Micrognathia, Narrow chest, Lower l... ORPHA:1703
Kyphomelic Dysplasia
Pterygium, Micrognathia, Micromelia, Lateral clavicle hook, Flared metaphysis, Ulnar bowing, Shor... OMIM:211350
Sprengel Deformity
Scoliosis, Sprengel anomaly, Spina bifida occulta, Cervical segmentation defect, Hemivertebrae, R... OMIM:184400
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Sandal gap, Flared femoral metaphysis, ... ORPHA:1427
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Boudin-Mortier Syndrome
Clinodactyly, Long toe, Joint laxity, Elevated alkaline phosphatase of bone origin, Mallet finger... OMIM:619543
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Reactive hypoglycemia... ORPHA:276556
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Missing ribs, Umbilical hernia, Abnormal rib morphology, Congenital... ORPHA:1488
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... OMIM:210720
Koolen-De Vries Syndrome
Kyphosis, Joint hyperflexibility, Pectus excavatum, Arachnodactyly, Scoliosis, Abnormal dental en... ORPHA:96169
Acquired Methemoglobinemia
Arrhythmia, Palpitations, Syncope, Tachycardia, Methemoglobinemia ORPHA:464453
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Coxa valga, Increased bone mineral density, Osteopenia, Abnormal foot morphology, ... ORPHA:85184
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Fibrochondrogenesis
Brachydactyly, Short neck, Camptodactyly of finger, Abnormal form of the vertebral bodies, Short ... ORPHA:2021
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia, Inguinal hernia OMIM:619272
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs,... OMIM:304120
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Micrognathia, Joint hypermobility, Abnormal rib morphology, Pectus excavatum, Hypoplastic distal ... OMIM:602196
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia, Obesity, Truncal obesity OMIM:615986
Cartilage-Hair Hypoplasia
Abnormality of pelvic girdle bone morphology, Short palm, Congenital hypoplastic anemia, Hypoplas... OMIM:250250
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Short distal phalanx of finger, Fused cervical vertebrae, Broad thu... OMIM:184460
Myhre Syndrome
Brachydactyly, Clinodactyly, Short neck, 2-3 toe syndactyly, Joint stiffness, Aortic valve stenos... OMIM:139210
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abnormal atriovent... ORPHA:85451
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Rickets ORPHA:79168
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Abnormality of e... ORPHA:90673
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormality of the humeroulnar joint, Abnormal form of the vertebral bodies, Abnormal... ORPHA:2234
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Hypotension, Neutropenia, Anemia, Bradycardia, Tachycardia, Thrombocy... ORPHA:90051
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Joint stiffness, Splenomegaly, Dense calvaria, Inguinal hernia, As... OMIM:252900
Faciodigitogenital Syndrome, Autosomal Recessive
Hyperextensible hand joints, Clinodactyly of the 5th finger, Down-sloping shoulders, Pectus excav... OMIM:227330
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Absent ossification of capital femoral epiphysis, Cervical kyphosis, Short neck, Flexion contract... OMIM:245160
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Tricuspid regurgitation, Abnormal ri... ORPHA:1120
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Intervertebral disc degeneration, Knee osteoarthritis, Arachnodactyly, Scoliosis OMIM:619656
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Ge... OMIM:613848
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Mucopolysaccharidosis, Type X
Posterior scalloping of vertebral bodies, Spatulate ribs, Aortic regurgitation, Aortic valve sten... OMIM:619698
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Hypoketotic hypoglycemia, Tachycar... ORPHA:276608
Mandibuloacral Dysplasia With Type B Lipodystrophy
Wormian bones, Flexion contracture, Loss of facial adipose tissue, Hyperinsulinemia, Decreased ad... OMIM:608612
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Short neck, Joint stiffness, Hypoplastic vertebral bodies, Vacuolated lym... OMIM:230500
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Elevated circ... OMIM:235555
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication, Abnormality of the cervical spine ORPHA:221098
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Jaundice, Intrahepatic cholestasis, Hepatitis, Elevated hepatic transaminase, El... OMIM:613812
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Sprengel anomaly, Spi... ORPHA:2475
Koolen-De Vries Syndrome
Slender finger, Kyphosis, Sacral dimple, Positional foot deformity, Pulmonic stenosis, Pectus exc... OMIM:610443
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Ivic Syndrome
Synostosis of carpal bones, Leukocytosis, Joint stiffness, Arrhythmia, Aplastic clavicle, Triphal... ORPHA:2307
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Radioulnar dislocation, Abnormal thorax morphology, Ulnar deviate... OMIM:164900
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... ORPHA:1452
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Lamb-Shaffer Syndrome
Thoracic kyphosis, Micrognathia, Scoliosis, Fused cervical vertebrae, Hip dysplasia ORPHA:530983
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome