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

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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

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Whole Body Lateral 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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Eye Morphology

Images Ophthalmoscopy

11 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Histopathology

Images

2 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
Clavicular sclerosis, Increased bone mineral density, Metaphyseal dysplasia, Dense metaphyseal ba... OMIM:615198
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Elevated alkaline phosphatase of bone origin, Scoliosis, Epiphyseal dysplasia, Arachn... OMIM:615923
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... OMIM:600785
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Hypophosphatasia, Adult
Rickets, Arthropathy, Osteomalacia, Low alkaline phosphatase, Pathologic fracture, Recurrent frac... OMIM:146300
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Osteosarcoma
Abnormal metaphysis morphology, Pathologic fracture, Abnormal femoral metaphysis morphology, Abno... ORPHA:668
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Decreased skull ossification, Thrombocy... ORPHA:3319
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Elevated circulating alkaline phosphatase c... OMIM:239100
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persis... OMIM:612561
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Epistaxis, Thrombocyto... OMIM:616216
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Intervertebral disk degeneration, Arthralgia of the hip, Abnormality of the epiphyse... ORPHA:93311
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly, Elevated circulating alkaline... OMIM:126550
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl... OMIM:156530
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Osteogenesis Imperfecta, Type Xi
Kyphoscoliosis, Osteopenia, Vertebral compression fracture, Vertebral wedging, Scoliosis, Coxa va... OMIM:610968
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:205950
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ... ORPHA:93315
Osteogenesis Imperfecta, Type Vi
Beaking of vertebral bodies, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodie... OMIM:613982
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent fractures... ORPHA:210110
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Elevated circulating al... OMIM:135100
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Glycosylphosphatidylinositol Biosynthesis Defect 16
Elevated circulating alkaline phosphatase concentration OMIM:617816
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Bone Marrow Failure Syndrome 6
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... OMIM:618849
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob... OMIM:617021
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Scoliosis, Hypertension, Oste... ORPHA:2169
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Pathologic fracture, Elevated circulating alkaline phosphat... OMIM:174810
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Enlargement of the costochondral junction, Fibular bowing, Elevated circulating alkaline... OMIM:600081
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Flared metaphysis, Metaphyseal cupping, Bowing of the legs, Elevated circulating alka... OMIM:619073
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Avascular necrosis, Increased ... ORPHA:232
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Craniofacial osteosclerosis,... OMIM:122860
Otopalatodigital Syndrome Type 1
Abnormal metacarpal morphology, Proximal placement of thumb, Sandal gap, Short hallux, Increased ... ORPHA:90650
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Bradycardia, Impaired glucos... OMIM:614407
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Abnormal c... ORPHA:93351
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Clinodactyly of the 5th finger, Ra... ORPHA:2760
Camurati-Engelmann Disease, Type 2
Osteopenia, Hyperostosis, Thoracolumbar scoliosis, Hip contracture, Knee flexion contracture, Ele... OMIM:606631
Sillence Syndrome
Short finger, Chess-pawn distal phalanges, Abnormal vertebral morphology, Large tarsal bones, Int... ORPHA:3168
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Hyporeflexia of lower limbs... OMIM:601419
Hypophosphatasia, Childhood
Craniosynostosis, Rachitic rosary, Bowing of the legs, Low alkaline phosphatase OMIM:241510
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo... ORPHA:329475
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Diamond-Blackfan Anemia 7
Osteopenia, Triphalangeal thumb, Macrocytic anemia, Increased mean corpuscular volume, Scoliosis,... OMIM:612562
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacral vertebrae, C... OMIM:105650
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Elevated circulating alkaline phosphatase concentration, Brachydactyly, Low alkaline phosphatase OMIM:618879
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Chronic Atrial And Intestinal Dysrhythmia
Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric... OMIM:616201
Aarskog-Scott Syndrome
Congestive heart failure, Clinodactyly of the 5th finger, Talipes, Inguinal hernia, Genu recurvat... ORPHA:915
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Delayed skeletal maturation, Supernumerary ribs, Abse... OMIM:612447
Kniest Dysplasia
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped... ORPHA:485
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Metaphyseal Dysplasia, Braun-Tinschert Type
Elevated alkaline phosphatase of bone origin, Exostoses of the ulna, Tibial bowing, Wide proximal... ORPHA:85188
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Impaired glucose tolerance, Osteoporosis, Type II diabetes mellitus, Gout, Glucose ... OMIM:610947
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia OMIM:618815
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Abnormal finger morphology, Chronic neutropenia, Delayed skel... ORPHA:811
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology... ORPHA:2635
Idiopathic Congenital Hypothyroidism
Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Um... ORPHA:95717
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Talipes equinovarus,... OMIM:618845
Thrombocytopenia-Absent Radius Syndrome
Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia... ORPHA:3320
Majeed Syndrome
Bone pain, Anemia of inadequate production, Delayed skeletal maturation, Hepatosplenomegaly, Flex... OMIM:609628
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Ele... OMIM:241530
Paget Disease Of Bone 6
Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Osteoarthritis OMIM:616833
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Coenzyme Q10 Deficiency, Primary, 7
Scoliosis, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Holt-Oram Syndrome
Pectus excavatum, Kyphosis, Broad thumb, Joint stiffness, Absent thumb, Abnormal clavicle morphol... ORPHA:392
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Reduced bone mineral density, Anemia, Acute myeloid leu... OMIM:617052
Femoral-Facial Syndrome
Abnormal fibula morphology, Maternal diabetes, Inguinal hernia, Scoliosis, Vertebral segmentation... ORPHA:1988
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Pectus carinatum, 2-3 toe syndactyly, Thoracic kyphoscoliosis, Scoliosis, Mi... ORPHA:313892
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn... OMIM:178110
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... OMIM:601559
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... OMIM:610017
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Melena, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythro... ORPHA:98870
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Type II diabetes mellitus, B... ORPHA:1436
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concen... OMIM:193100
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... ORPHA:79106
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Spinal rigidity, Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrill... OMIM:613327
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv... ORPHA:60041
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Clinodactyly of the 5th finger, Knee flexion contracture, 2-3 toe syndactyly, Elbow f... OMIM:616809
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Talipes, Clinodactyly of the 5th finger, Cubitus v... ORPHA:1836
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Extramedullary hematopoiesis, Anemia of inadequate prod... ORPHA:231222
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Bone pain, Anemia of inadequate production, Leukocytosis, Retinal hemorrh... ORPHA:86839
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Genu valgum, Fibular bowing, Elevated circulating alkaline phosphatase concentration, Hy... OMIM:307800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Trichothiodystrophy 6, Nonphotosensitive
Pes cavus, Increased bone mineral density, Coronal craniosynostosis, Delayed skeletal maturation,... OMIM:616943
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Dominant Beta-Thalassemia
Genu valgum, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean corpuscu... ORPHA:231226
Congenital Myopathy 22A, Classic
Spinal rigidity, Talipes, Bradycardia, Scoliosis, Scapular winging, Pectus excavatum, Congenital ... OMIM:620351
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... OMIM:618469
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Weight loss, Anorexia ORPHA:178029
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Trimethylaminuria
Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Enlargement of the costochondral junction, Fibular bowing, Elevated circulating alkaline... OMIM:264700
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... OMIM:108720
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Scoliosis, Coxa valga, Broad long bon... OMIM:269300
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... OMIM:309620
Bile Acid Conjugation Defect 1
Rickets, Jaundice, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619232
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Increased mean corpuscular volume, Scoliosis, Kyphosis, Micrognathia... ORPHA:261250
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:616829
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Kbg Syndrome
Finger clinodactyly, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed s... ORPHA:2332
Overhydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Pulmonary embol... OMIM:185000
X-Linked Hypophosphatemia
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... ORPHA:89936
Beta-Thalassemia Major
Anisopoikilocytosis, Genu valgum, Hypochromic microcytic anemia, Extramedullary hematopoiesis, De... ORPHA:231214
Glycogen Storage Disease Iv
Bradycardia, Cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Flexion contracture, Arthro... OMIM:232500
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Slc35A2-Cdg
Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Craniosynostosis... ORPHA:356961
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia, Abnormality of the calcaneus,... ORPHA:40366
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Osteoporosis, L... OMIM:127550
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Clubbing, Portal hypertension, Thrombocytopenia, Splenomegaly OMIM:620367
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Global sys... OMIM:606842
Ring Chromosome 21 Syndrome
Scoliosis, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Clinodactyly, Abnormal t... ORPHA:1445
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Recurrent fractures, Scoliosis, Pectus excavatum, Kyphosis, Decr... OMIM:259440
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu... OMIM:614022
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis... OMIM:272460
Multiple Pterygium Syndrome, X-Linked
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Vertebral fusion, Fl... OMIM:312150
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d... OMIM:617222
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Elevated circulating alkaline phosphatase concentration, Enlargement of ... OMIM:277440
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Kyphosis, Achilles tendon contracture, Thigh h... OMIM:607155
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia... ORPHA:96334
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Microcephaly-Micromelia Syndrome
Narrow chest, Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosi... OMIM:251230
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Atelosteogenesis Type Iii
Short tubular bones of the hand, Thoracic hypoplasia, Abnormal cervical curvature, Absent radius,... ORPHA:56305
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin... OMIM:201170
Diamond-Blackfan Anemia
Triphalangeal thumb, Acute myeloid leukemia, Normochromic anemia, Erythroid hypoplasia, Elevated ... ORPHA:124
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Hypophosphatemic rickets, Genu varum, Elevated circulating alkaline phosphatase conc... OMIM:613312
Wild Type Attr Amyloidosis
Congestive heart failure, Pedal edema, Bradycardia, Atrial fibrillation, Decreased/absent ankle r... ORPHA:330001
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syndactyly, Syncope, Aborted... OMIM:618447
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Umbilical hernia, Joint hypermobility, Ce... OMIM:618000
Glutamine Deficiency, Congenital
Flexion contracture, Micromelia, Camptodactyly, Bradycardia OMIM:610015
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Bell-shaped t... OMIM:166210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Kyphosis, Achilles tendon contracture, Thigh h... OMIM:606612
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Micrognathia, Joint contracture, Inguinal hernia, Bradycardia OMIM:614498
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Multiple Pterygium Syndrome, Lethal Type
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Vertebral fusion, Fl... OMIM:253290
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventri... OMIM:212138
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Grant Syndrome
Abnormal cortical bone morphology, Narrow chest, Joint dislocation, Wormian bones, Abnormal pelvi... ORPHA:2097
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly, Short neck... OMIM:244600
Infant Acute Respiratory Distress Syndrome
Bradycardia, Cardiac arrest, Hypotension, Tachycardia, Abnormal thorax morphology ORPHA:70587
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Vertebral clefting, Decreased calva... OMIM:241500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Absent ossification of capital femoral epiphysis, Bradycardia, U... ORPHA:226313
Hemochromatosis, Type 4
Anemia, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Osteoarthritis, Arrhythm... OMIM:606069
Microphthalmia With Limb Anomalies
Sandal gap, Abnormal form of the vertebral bodies, Short long bone, Tibial bowing, Broad thumb, J... ORPHA:1106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li... OMIM:151200
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Glycosylphosphatidylinositol Biosynthesis Defect 25
Ankle flexion contracture, Low alkaline phosphatase OMIM:619985
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Maternal diabetes, Abnormal iliac wing morphology, Scoliosis, H... ORPHA:3027
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... OMIM:268310
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Type II diabetes mellitus, Splenomegaly, D... OMIM:616860
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Elevated alkaline phosphatase of bone origin, Enlargement of the costochondral junction,... ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Short ribs, Short femur, S... OMIM:607143
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Flared metaphysis, Sandwich appearance o... OMIM:259700
Hypocalcemic Vitamin D-Resistant Rickets
Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Abn... ORPHA:93160
Eiken Syndrome
Fibular hypoplasia, Elevated circulating alkaline phosphatase concentration, Delayed epiphyseal o... OMIM:600002
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Eisenmenger Syndrome
Clubbing, Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressur... ORPHA:97214
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Joint ... OMIM:618395
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... ORPHA:175
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Pseudo-Torch Syndrome 2
Thin ribs, Thrombocytopenia, Cerebral hemorrhage, Bradycardia OMIM:617397
Familial Thyroid Dyshormonogenesis
Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Um... ORPHA:95716
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Delayed skeletal maturat... ORPHA:582
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br... OMIM:617405
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor... ORPHA:2916
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... OMIM:260400
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine a... OMIM:619658
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Bell-shaped t... OMIM:616300
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Otopalatodigital Syndrome Type 2
Flared iliac wing, Hypoplastic frontal sinuses, Fibular aplasia, Tarsal synostosis, Abnormal meta... ORPHA:90652
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Micromelia, Abnormal enchondral ossification... ORPHA:93298
Occipital Horn Syndrome
Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ... ORPHA:198
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Atrial Standstill 2
Scarring, Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial car... OMIM:615745
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyn... OMIM:263520
Necrotizing Enterocolitis
Neutropenia, Abnormal glucose homeostasis, Bradycardia, Hypotension, Leukocytosis, Hyperglycemia,... ORPHA:391673
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia OMIM:611590
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Hypophosphatasia
Abnormal metaphysis morphology, Anemia, Narrow chest, Bowing of the long bones, Abnormal rib morp... ORPHA:436
Orofaciodigital Syndrome Iv
Short finger, Pectus excavatum, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Microg... OMIM:258860
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... ORPHA:3035
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... OMIM:274000
Proximal Spinal Muscular Atrophy
Distal lower limb muscle weakness, Multiple joint contractures, Bradycardia, Scoliosis, Thoracic ... ORPHA:70
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Knee dislocation, Short me... OMIM:150250
Beta-Thalassemia
Reduced bone mineral density, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem... ORPHA:848
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the dis... OMIM:190350
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Elevated circulating alkaline phosphatase concentration, Bowing of the legs ORPHA:89937
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Short ribs, Flat acetabular roof, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Elevated circulating alkaline phosphatase concentration, Abnormality of alkaline phosphatase leve... OMIM:620375
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck OMIM:214300
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Oncogenic Osteomalacia
Abnormal fibula morphology, Abnormal femur morphology, Abnormal vertebral morphology, Fibrous dys... ORPHA:352540
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval ORPHA:542306
Osteogenesis Imperfecta, Type X
Tibial bowing, Thoracic hypoplasia, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, F... OMIM:613848
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica... ORPHA:2484
Osteopetrosis, Autosomal Recessive 9
Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fracture, Elevated ... OMIM:620366
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Congenital foot contractures, Bradycardia, Scoliosis, Prominent calcaneus,... ORPHA:565624
Verheij Syndrome
Scoliosis, Hemivertebrae, Short neck, Joint hypermobility, Short 5th finger, Hip dislocation, Cli... OMIM:615583
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Metaphyseal irregularit... OMIM:619636
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Plantar pits, Kyphoscoliosis, Vertebral wedging, Abnormal ster... OMIM:109400
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Coxa vara, Micromelia, Short palm, Flared, irregular rib ends, Plat... ORPHA:168555
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Anemia, Calvarial osteosclerosis, Slender long bone, Thin ribs, D... OMIM:244460
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Osteogenesis Imperfecta, Type Iii
Slender long bone, Thin ribs, Tibial bowing, Scoliosis, Pulmonary arterial hypertension, Kyphosis... OMIM:259420
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume OMIM:206100
Gorham-Stout Disease
Osteopenia, Elevated alkaline phosphatase of bone origin, Abnormal femur morphology, Abnormal bon... ORPHA:73
Mucopolysaccharidosis, Type Iva
Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Joint hypermobili... OMIM:253000
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal long bone morphology, Calvarial hyperostosis, Hyperlordosis, Pathologic fracture, Elevat... ORPHA:52430
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Prolonged QT interval, Cardiomyopathy, Pectus excavatum, Broad t... ORPHA:373
Kleine-Levin Syndrome
Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee... ORPHA:33543
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Abnormal enchondral ossification, Micromelia, Fe... ORPHA:93299
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Mucopolysaccharidosis, Type Ivb
Hyperlordosis, Kyphosis, Aortic valve stenosis, Joint stiffness, Constricted iliac wing, Joint hy... OMIM:253010
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Cardiomyopathy, Thoracolumbar scoliosis, Micrognathia, Flexion c... OMIM:616549
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Abnormal Hair, Joint Laxity, And Developmental Delay
Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle... OMIM:261990
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology ORPHA:1513
Poland Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Asymmetry of the thorax, Abnormal ... ORPHA:2911
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Thro... OMIM:618775
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missing ribs, Block vertebrae, ... OMIM:271520
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Neutrophilia, Flaring of rib cage, Splenomegal... OMIM:612852
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Glycosylphosphatidylinositol Biosynthesis Defect 17
Abnormality of alkaline phosphatase level, Clinodactyly of the 5th toe, Clinodactyly of the 5th f... OMIM:618010
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ... OMIM:300554
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Hypoplastic ischia, Dumbbell-shaped lo... OMIM:228520
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Short finger... OMIM:300232
Omodysplasia 1
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,... OMIM:258315
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Platyspondyly, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal r... ORPHA:93317
Combined Oxidative Phosphorylation Deficiency 39
Scoliosis, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion contracture, Ank... OMIM:618397
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Aapoaiv Amyloidosis
Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular... ORPHA:439232
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Tetanus
Tachycardia, Stiff neck, Hypertension, Bradycardia ORPHA:3299
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Elevated alkaline phosphatase of bone origin, Hypophosphatemic rickets, Sclerot... ORPHA:289176
Becker Nevus Syndrome
Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus... ORPHA:64755
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Femoral bowing, Short metacarpal, Decreased skull ossification, Kyphosis, Multiple... OMIM:610915
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hypoke... ORPHA:276580
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Joint dislocation, Scoliosis, Osteomalacia, Osteoporosis, Coxa vara, Joint s... ORPHA:1901
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal clavicle morphology, Congenital diaphr... ORPHA:958
Fibrous Dysplasia Of Bone
Rickets, Abnormal femur morphology, Abnormal tibia morphology, Fibrous dysplasia of the bones, Sc... ORPHA:249
Schneckenbecken Dysplasia
Snail-like ilia, Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Th... OMIM:269250
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Paget disease of bone, Elevated alkaline phosphatase of bone origin, Abnormal pelvic girdle bone ... OMIM:167320
Boudin-Mortier Syndrome
Pseudoepiphysis of the 1st metacarpal, Elevated alkaline phosphatase of bone origin, Pseudoepiphy... OMIM:619543
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short long ... OMIM:156400
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hyp... OMIM:614524
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Spondyloepimetaphyseal Dysplasia, Shohat Type
Narrow greater sciatic notch, Short ribs, Splenomegaly, Metaphyseal irregularity, Joint hypermobi... OMIM:602557
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
3M Syndrome
Rocker bottom foot, Enlarged thorax, Hyperlordosis, Kyphosis, Hypoplastic pelvis, Hypoplastic isc... ORPHA:2616
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Short distal phalanx of toe, Abno... OMIM:619356
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... OMIM:615234
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis,... ORPHA:79303
Lateral Meningocele Syndrome
Inguinal hernia, Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Biconcave vertebral bodies... OMIM:130720
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Neonatal hypoglycemia, Bradycardia, ST segment elevation, Cardiomyopath... OMIM:261740
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Enamel hypoplasia, Delayed skeletal maturation, Brachydactyly, Abnormal ... ORPHA:2643
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange... ORPHA:2378
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Asymmetry of the thorax, Macrocytic a... OMIM:250250
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly OMIM:258865
Dysosteosclerosis
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... OMIM:224300
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Reduced bone mineral density, Hypophosphatemic rick... ORPHA:157215
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Platyspondyly, Flared metaphysis, Short ribs, Decreased skull ossification, Hypertrop... OMIM:616897
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Bowing of the long bones, Kyphosis, Lateral femoral b... OMIM:239000
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Elevated circu... OMIM:619484
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Polyphagia OMIM:615986
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Joint hypermobility, Craniosynostosis, Overlapping toe, Sacral dimple, Inguinal... OMIM:213980
Cholestasis-Lymphedema Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:214900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal rib morpholo... ORPHA:377
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Peripartum Cardiomyopathy
Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul... ORPHA:563
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form... ORPHA:1486
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat... OMIM:143095
Kniest Dysplasia
Tibial bowing, Pectus excavatum, Hypoplastic pelvis, Dumbbell-shaped long bone, Dumbbell-shaped f... OMIM:156550
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... ORPHA:2319
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Pectus carinatum, Micrognathia, Short toe, Flexion contracture, Short neck, Micro... ORPHA:98791
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calc... OMIM:300863
Holt-Oram Syndrome
Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Pectus excavatum, Pulmonic stenosis... OMIM:142900
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap... OMIM:135750
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia, Cardiomyopathy, Flar... OMIM:253200
Lathosterolosis
2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Intrahepatic cholestasis, Elevated ci... OMIM:607330
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Wormian bones, Bowing of the long bone... OMIM:617952
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Lower limb asymmetry, Camptodactyly of finger, Micrognathi... ORPHA:1703
Sepsis In Premature Infants
Anemia, Bradycardia, Hypotension, Leukocytosis, Thrombocytopenia, Splenomegaly, Tachycardia, Neut... ORPHA:90051
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Corneal scarring, Retinal hemorrhage, Hand clenching, Flexion contract... OMIM:614653
Cantú Syndrome
Abnormal metaphysis morphology, Deep plantar creases, Platyspondyly, Narrow chest, Short hallux, ... ORPHA:1517
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Hypoplastic pelvis, Irregular ... OMIM:187760
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Platyspondyly, Narrow chest, Vertebral compression fracture, Angulated hu... OMIM:616229
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Short long bone, Broad femoral neck, Butterfly vertebrae, Rhizomelia, Camptodacty... OMIM:611209
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatos... ORPHA:846
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Inguinal hernia, Abnorm... ORPHA:2311
Hyperparathyroidism, Transient Neonatal
Osteopenia, Subperiosteal bone formation, Thin ribs, Femoral bowing, Short ribs, Short long bone,... OMIM:618188
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Prominent fingertip pads, Pectus excavatum, Kyphosis... OMIM:610443
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Koolen-De Vries Syndrome
Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Pectus excavatum, Ky... ORPHA:96169
Kyphomelic Dysplasia
Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy... OMIM:211350
Lujo Hemorrhagic Fever
Myocarditis, Stiff neck, Bradycardia, Hypotension, Leukocytosis, Leukopenia, Subconjunctival hemo... ORPHA:319213
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Mitochondrial Complex I Deficiency, Nuclear Type 37
Inguinal hernia, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elev... OMIM:235555
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short h... ORPHA:959
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor... ORPHA:1488
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Leukocytosi... ORPHA:2307
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Myhre Syndrome
Short finger, Radial deviation of finger, Enlarged vertebral pedicles, Hypoplastic iliac wing, 2-... OMIM:139210
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk... ORPHA:93324
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Elbow dislocat... OMIM:164900
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of... OMIM:148050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Tibial bowing, Delayed skeletal maturation, Short distal phalanx of finge... OMIM:210720
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Hypertrophic cardiomyopathy, Reticul... OMIM:613673
Poland Syndrome
Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, Rib fusion, Uni... OMIM:173800
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Limited elbow movement, Sinus tachycardia, Hypertension, Joint stiffness, Pathologic... OMIM:614008
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Inguinal hernia, Scoliosis, Asymmetric septal hypertrophy, Joint stiffness, Ovoid... OMIM:252900
Nephronophthisis 9
Polydipsia OMIM:613824
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Aortic regurgitation, Inguinal hernia, Spondylolisthesis, Scoliosis, Shor... OMIM:252600
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... OMIM:184460
Faciodigitogenital Syndrome, Autosomal Recessive
Clinodactyly of the 5th finger, Inguinal hernia, Short foot, Camptodactyly, Pectus excavatum, Met... OMIM:227330
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem... OMIM:263300
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Cleidocranial Dysplasia
Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal... ORPHA:1452
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
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... OMIM:602196
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Delayed proximal femoral epiphyseal ossification, Umbilical hernia... ORPHA:90673
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Normochromic anemia, Inguinal hernia, Pulmonary arterial hypertension, Delaye... OMIM:614857
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal thumb morphology, Triphalangeal thumb, Proximal placeme... ORPHA:1120
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal foot morphology, Abnormal diaphysis morphol... ORPHA:85184
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Hip dysplasia ORPHA:530983
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Saul-Wilson Syndrome
Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t... OMIM:618150
Osteogenesis Imperfecta
Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Abnormal f... ORPHA:666
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration OMIM:605479
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Pectus excavatum, W... ORPHA:800
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Congestive heart failure, Inguinal hernia, Vacuolated lymphocytes, S... OMIM:230500
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspar... ORPHA:79302
Dent Disease 1
Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ... OMIM:300009
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Abnormal form of the vertebral bodies, Pterygium, Abnor... ORPHA:2876
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Abnormality of the cervical spine, Bradycardia ORPHA:221098
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Spondyloepimetaphyseal Dysplasia, Krakow Type
Irregular epiphyses, Delayed pubic bone ossification, Clinodactyly of the 5th finger, Knee flexio... OMIM:618162
D-Glyceric Aciduria
Hypoglycemia, Bradycardia OMIM:220120
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, ... OMIM:277400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Broad thumb, Short 5th finger, Overlapping toe, Hip dislocation, Aortic regurgi... ORPHA:508498
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint hypermobility, Recur... ORPHA:2772
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short femur, Short tibia, Tricuspid regurgitation OMIM:620306
Mosaic Trisomy 20
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Limit... ORPHA:1724
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Split foot, Hip dislocation, Hypoplasia of the u... OMIM:200980
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Elevated circulating alkaline phosphatase concentration OMIM:134600
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Asymmetric septal hypertrophy, Joint... OMIM:252930
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Abnor... ORPHA:2050
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Aortic regurgitation, Spatulate ribs, Broad clavicles, ... OMIM:619698
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Fanconi-Bickel Syndrome
Rickets, Osteopenia, Bowing of the long bones, Elevated circulating alanine aminotransferase conc... ORPHA:2088
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Short neck, Absent thumb, Short thumb, Short ... OMIM:609053
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar... ORPHA:73230
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Neuroleptic Malignant Syndrome
Thrombocytosis, Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Leukocytosis, Thromb... ORPHA:94093
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... ORPHA:300298
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive OMIM:304800
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Congenital Disorder Of Glycosylation, Type Iij
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... OMIM:613489
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, ... ORPHA:2180
Bohring-Opitz Syndrome
Fixed elbow flexion, Joint dislocation, Bradycardia, Metacarpophalangeal joint contracture, Limit... ORPHA:97297
Marburg Hemorrhagic Fever
Bradycardia, Capillary leak, Neutrophilia in presence of infection, Arthritis, Abnormal lymphocyt... ORPHA:99826
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Bradycardia OMIM:610768
Familial Cold Urticaria
Polydipsia ORPHA:47045
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Inguinal hernia, Thin ribs, Pulmonary arteria... OMIM:608149
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Diffuse alveolar hem... ORPHA:99827
Aicardi Syndrome
Butterfly vertebrae, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block vertebrae, Bi... ORPHA:50
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Isolated Thyroid-Stimulating Hormone Deficiency
Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, De... ORPHA:90674
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Aggressive Systemic Mastocytosis
Decreased liver function, Elevated total serum tryptase, Portal hypertension, Osteoporosis, Patho... ORPHA:98850
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal ri... ORPHA:2759
Sheehan Syndrome
Orthostatic hypotension, Normochromic anemia, Bradycardia, Palpitations, Hypoglycemia ORPHA:91355
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C... OMIM:608940
Encephalitis Lethargica
Limb pain, Stiff neck, Bradycardia ORPHA:83600
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, Kyphosis, Osteoporosis, Accelerated... OMIM:617190
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Brachydactyly, ... ORPHA:2145
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Cardiomyopathy, Pectus excavatu... OMIM:253220
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Clinodactyly of the 5th finger, Scoliosis, Short fourth metatarsal, Arthrog... OMIM:618143
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr... OMIM:617895
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, In... ORPHA:1145
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Fuse... OMIM:607323
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Familial Osteodysplasia, Anderson Type
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... ORPHA:2769
Stiff-Person Syndrome
Anemia, Hypertension, Tachycardia, Diabetes mellitus, Lumbar hyperlordosis OMIM:184850
Cholesteryl Ester Storage Disease
Portal hypertension, Reduced lysosomal acid lipase activity, Increased circulating lactate dehydr... OMIM:278000
Antley-Bixler Syndrome
Talipes, Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, J... ORPHA:83
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pectus excavatum, Pseudoarthrosis OMIM:607278
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long... ORPHA:85167
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Thin ribs, Narrow iliac wing, Pectus exca... OMIM:616294
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Short finger, Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal os... ORPHA:226307
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... ORPHA:1834
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc... OMIM:615716
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Talipes equinovarus, Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sacral dimpl... OMIM:206920
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Long foot, Abnormal bone ossification, Thin metacarpal cortices, Loss of truncal subc... ORPHA:2463
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Kyphosis, Epiphyseal dysplasia, Joint stiffness, Ovo... ORPHA:583
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Delayed skeletal maturation, Joint hyp... OMIM:224690
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Abnor... ORPHA:93473
Teratoma, Pineal
Polydipsia OMIM:273120
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... ORPHA:263501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block OMIM:616812
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Proximal placement of thumb, Lipoma, Scoliosis, Hemivertebrae, M... OMIM:304050
Mucopolysaccharidosis, Type Iiib
Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Ovoid thoracolumbar vertebrae, Sp... OMIM:252920
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Robinow Syndrome
Fused thoracic vertebrae, Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Mis... ORPHA:97360
Seckel Syndrome 1
Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Disloc... OMIM:210600
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Bile Acid Synthesis Defect, Congenital, 3
Jaundice, Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Elev... OMIM:613812
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic tr... OMIM:616026
Campomelic Dysplasia
Fibular hypoplasia, 11 pairs of ribs, Narrow chest, Poorly ossified cervical vertebrae, Tracheoma... ORPHA:140
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Generalized lipodystrop... OMIM:619127
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentrat... OMIM:607765
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Delayed skeletal maturation, Hip dislocation, Sa... OMIM:194190
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Umbilical hernia, Joi... OMIM:182212
Castleman Disease
Anemia, Restrictive cardiomyopathy, Myelofibrosis, Thrombocytopenia, Decreased mean corpuscular v... ORPHA:160
Graft Versus Host Disease
Limited elbow movement, Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminas... ORPHA:39812
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Lateral clavicle hook, Irreg... OMIM:208500
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Slender long bone, Scoliosis, Joint hypermobility, Elevated circulating alkaline phos... OMIM:618590
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Scoliosis,... OMIM:617137
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp... OMIM:617093
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Abnormal pelvic gir... ORPHA:1788
Orofaciodigital Syndrome Type 2
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... ORPHA:2751
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Aplasia/Hypoplasia of the distal phalanges of the toes, Syncope, Premature ventricul... OMIM:192445
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ... ORPHA:163966
Apert Syndrome
Limited elbow movement, Pectus carinatum, Broad thumb, Syndactyly, Craniosynostosis, Postaxial ha... OMIM:101200
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Cystinosis
Polydipsia, Failure to thrive, Motor stereotypy ORPHA:213
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chronic lymphatic le... ORPHA:98849
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology, Microretrognathia ORPHA:276422
Cholestasis, Progressive Familial Intrahepatic, 8
Jaundice, Elevated circulating alkaline phosphatase concentration, Elevated circulating alanine a... OMIM:619662
Ochoa Syndrome
Polydipsia ORPHA:2704
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Tibial bowing, Delayed skeletal maturation, Flexion contracture of finger, Cervical ... OMIM:601812
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly... OMIM:600920
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Limited knee extension, Pectus excavatum, Kyphosis, Persistent... OMIM:304150
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia ORPHA:223
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Pulmonary insufficiency, Scarring, Inguinal hernia, Bradycardia,... OMIM:614437
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Lumbar scoliosis, Lumbar hyp... OMIM:617796
Fanconi-Bickel Syndrome
Rickets, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, E... OMIM:227810
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Hypertension, Short metac... ORPHA:95699
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac... OMIM:134780
Congenital Disorder Of Glycosylation, Type Iio
Prolonged neonatal jaundice, Elevated alkaline phosphatase of bone origin, Elevated circulating h... OMIM:616828
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror ima... OMIM:119800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Pectus excavatum, Leukocytosis, Reticulocytosis, Poikilocytosis, Ellipt... OMIM:618278
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating hepatic transaminase concentration, Postaxial polydactyly, Elevated gamma-gl... OMIM:614576
Xylt1-Cdg
Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Accelerated ... ORPHA:370930
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Butterfly vertebral arch, Abnormal form o... ORPHA:52
Duane Retraction Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu... ORPHA:233
Congenital Disorder Of Glycosylation, Type Iiaa
Knee flexion contracture, Short long bone, Elevated circulating aspartate aminotransferase concen... OMIM:620454
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Joint hypermobility, Micrognathia, Persistence of hemoglobin F, Anterior concavity of thoracic ve... OMIM:617101
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Intr... ORPHA:1163
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Achondrogenesis, Type Ii
Short tubular bones of the hand, Abnormal foot morphology, Barrel-shaped chest, Hypoplastic iliac... OMIM:200610
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c... ORPHA:3068
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Pr... OMIM:612921
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive ORPHA:320
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Pedal edema OMIM:126320
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Lateral clavicle ... ORPHA:3144
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Short femoral neck, Wormian bone... OMIM:617159
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Intrahepatic cholestasis with episodic jaundice, Jaundice, Rickets OMIM:211600
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Thin ribs, Decreased calvarial ossification, Micrognathia, Brachydactyly, Cran... OMIM:618265
Lethal Congenital Contracture Syndrome 10
Stiff neck, Narrow chest, Short long bone, Femoral bowing, Hypoplasia of the thymus, Thoracic sco... OMIM:617022
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Yellow Fever
Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri... ORPHA:99829
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Crumpled long bones, Narrow chest, Femoral retroversion, Recurrent fractu... OMIM:610682
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Periosteal thickening of lon... OMIM:114000
Mosaic Trisomy 8
Deep plantar creases, Clinodactyly of the 5th finger, Narrow chest, Scoliosis, Vertebral segmenta... ORPHA:96061
Estrogen Resistance Syndrome
Osteopenia, Elevated tissue non-specific alkaline phosphatase, Osteoporosis, Delayed epiphyseal o... ORPHA:785
Bardet-Biedl Syndrome 17
Polydipsia, Obesity OMIM:615994
Severe Generalized Junctional Epidermolysis Bullosa
Anemia, Bradycardia, Osteoporosis, Enamel hypoplasia, Abnormal fingertip morphology, Mitten defor... ORPHA:79404
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... ORPHA:263455
Coronary Arterial Fistula
Congestive heart failure, Pedal edema, Tachycardia, Angina pectoris, Elevated jugular venous pres... ORPHA:2041
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc... OMIM:614749
Alpha-Mannosidosis, Infantile Form
Pectus carinatum, Pectus excavatum, Joint stiffness, Umbilical hernia, Joint hypermobility, Crani... ORPHA:309282
Pediatric-Onset Graves Disease
Polydipsia, Failure to thrive, Polyphagia, Hyperactivity ORPHA:525731
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Multiple Pterygium-Malignant Hyperthermia Syndrome
Inguinal hernia, Finger syndactyly, Scoliosis, Pectus excavatum, Abnormal rib morphology, Hemiatr... ORPHA:2215
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Xq12-Q13.3 Duplication Syndrome
Cutaneous finger syndactyly, 2-3 toe syndactyly, Low alkaline phosphatase ORPHA:314389
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel a... OMIM:619227
Acromelic Frontonasal Dysostosis
Patellar hypoplasia, Midline central nervous system lipomas, Mesomelic leg shortening, Tubulonodu... OMIM:603671
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s... OMIM:608328
Garg-Mishra Progeroid Syndrome
Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Micrognathia, Ov... OMIM:620601
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Short fo... OMIM:157800
Nephronophthisis 3
Polydipsia, Failure to thrive OMIM:604387
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hypertension, Vertebral segmentation defect, ... ORPHA:87
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Cubitus valgus, Epiphyseal stippling, Camptodactyly, Elevated circulating alanine amino... OMIM:614866
Pyknoachondrogenesis
Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing morphology, Short thorax, Short... ORPHA:3003
Lymphangiectasia, Intestinal
Prominent floating ribs, Pedal edema, Lymphopenia OMIM:152800
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Talipes, Finger syndactyly, Missing ribs, Congenital hip disloca... ORPHA:1647
Loeys-Dietz Syndrome 6
Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee osteoarthri... OMIM:619656
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Delayed ossification of carpal bones, Short toe, Short distal phalanx of finger, Elevated circula... OMIM:239300
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Short palm, Brachydactyly, Os... ORPHA:2176
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short l... OMIM:225500
Trisomy 13
Narrow chest, Scoliosis, Postaxial hand polydactyly, Ectrodactyly, Abnormal pelvic girdle bone mo... ORPHA:3378
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Pulmonic stenosis, Abnormal... ORPHA:3109
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Prominent sternum, Pectus excavatum, Camptodactyly, Wrist flexion contracture, O... ORPHA:254528
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Talipe... OMIM:301040
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Short ribs, Short metacarpal, ... OMIM:304120
Autosomal Recessive Malignant Osteopetrosis
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Anemia, Narrow chest... ORPHA:667
Hyperphosphatasia-Intellectual Disability Syndrome
Scoliosis, Shortening of all distal phalanges of the fingers, Hip dysplasia, Elevated circulating... ORPHA:247262
Dextrocardia
Abnormal foot morphology, Abnormal rib morphology, Congenital hip dislocation, Abnormality of the... ORPHA:1666
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Fibular bowing, Clinodactyly of the 5th finger, Scoliosis, Bilateral co... OMIM:618268
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Short-Rib Thoracic Dysplasia 12
Short finger, Narrow chest, Inguinal hernia, Short thorax, Short long bone, Short ribs, Omphaloce... OMIM:269860
Ziegler-Huang Syndrome
Delayed skeletal maturation, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Campomelia, Cumming Type
Bowing of the long bones, Abnormal rib morphology, Micromelia, Abnormally ossified vertebrae, Clu... ORPHA:1318
Alkaptonuria
Increased susceptibility to fractures, Reduced bone mineral density, Intervertebral disk calcific... ORPHA:56
Hypercholanemia, Familial 1
Rickets OMIM:607748
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Genu valgum, Reduced bone mineral density, Reduced left ventricular... ORPHA:581
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Gallbladder Disease 1
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:600803
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Shortening of all distal phalanges of the fingers, Scoliosis, Elevated circulating alkaline phosp... OMIM:614207
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Holzgreve Syndrome
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti... ORPHA:2167
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Talipes, Tapered toe, Slender long bone, Shoulder flexion contracture, Thin ribs... OMIM:620369
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Abnormal foot morphology, Multiple pterygia, Inguinal he... ORPHA:2990
Dent Disease
Rickets, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement of the ankles, E... ORPHA:1652
Nephronophthisis 4
Polydipsia OMIM:606966
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Mucopolysaccharidosis, Type Iiid
Pes cavus, Inguinal hernia, Elbow flexion contracture, Asymmetric septal hypertrophy, Epiphyseal ... OMIM:252940
Cystic Echinococcosis
Jaundice, Elevated circulating hepatic transaminase concentration, Bone cyst, Elevated gamma-glut... ORPHA:400
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the musculature of the lower limbs, Fused cervical vertebrae, Cervical... ORPHA:268882
Trisomy 1Q
Congenital diaphragmatic hernia, Long foot, Short thorax, Abnormal rib morphology, Omphalocele, A... ORPHA:261344
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
3-Methylglutaconic Aciduria, Type Viii
Neonatal hypoglycemia, Neutropenia, Bradycardia OMIM:617248
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Flexion contracture, Increased connective tissue, Adducte... ORPHA:171430
Lethal Congenital Contracture Syndrome 5
Thin ribs, Retinal hemorrhage, Congenital contracture, Flexion contracture, Subdural hemorrhage OMIM:615368
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Pulmonic stenosis, A... OMIM:277600
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Pulmonary arterial hypertens... ORPHA:2519
Cog1-Cdg
Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Talipes equinovarus, Short long bone... ORPHA:263508
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity ORPHA:3157
Myhre Syndrome
Abnormal metaphysis morphology, Platyspondyly, Craniofacial hyperostosis, Inguinal hernia, Hypert... ORPHA:2588
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of hallux, Pes cavus, Sacral dimple, Proximal placement of... OMIM:613458
Whipple Disease
Polydipsia, Cachexia, Anorexia ORPHA:3452
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Subperiosteal bone formation, Elevated circulating alkaline phosphatase concentration OMIM:211900
Gracile Bone Dysplasia
Slender long bone, Flared metaphysis, Thin ribs, Decreased skull ossification, Asplenia, Hypoplas... OMIM:602361
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Delayed skeletal maturation, Syndactyly, Joint hypermobility, Broad ribs, Inguin... OMIM:151050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated gamma-glutamyltransfe... OMIM:613095
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Congestive heart failure, Gastrointestinal hemorrhage, Kyphoscoliosis, Platyspondyly,... OMIM:225400
Cerebrofaciothoracic Dysplasia
Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Rib fusion, Sprengel anoma... ORPHA:1394
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Slender long bone, Upper limb undergrowth, Scoliosis, Low alkaline phosphatase, Joint... ORPHA:369837
Heterotaxy, Visceral, 1, X-Linked
Short long bone, Congenital hip dislocation, Pulmonic stenosis, Bilateral talipes equinovarus, As... OMIM:306955
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:457077
Aneurysm-Osteoarthritis Syndrome
Osteochondritis dissecans, Intervertebral disk degeneration, Knee osteoarthritis, Scoliosis, Oste... ORPHA:284984
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Pectus excavatum, Arachnodactyly, Paranasal sinus hypoplasia, Craniof... OMIM:300373
Developmental And Epileptic Encephalopathy 80
Short distal phalanx of finger, Elevated circulating alkaline phosphatase concentration, Triphala... OMIM:618580
Mccune-Albright Syndrome
Abnormal femur morphology, Fibrous dysplasia of the bones, Aneurysmal bone cyst, Scoliosis, Polyo... ORPHA:562
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Spina bifida occulta, Abnormal rib morphology, Broad femoral neck, Delayed skeletal m... ORPHA:488434
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Lead Poisoning
Abnormal T cell morphology, Cranial hyperostosis, Anemia, Hypertension, Delayed skeletal maturati... ORPHA:330015
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive OMIM:239200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, Inguinal hernia, B lymphocytopenia, Thin ribs, Cleft ve... ORPHA:83617
Atypical Werner Syndrome
Rocker bottom foot, Reduced bone mineral density, Osteolytic defects of the phalanges of the hand... ORPHA:79474
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Rachitic rosary, Hypophosphatemic rickets OMIM:612089
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated circulating hepatic transaminase concentration, 11 pairs of ribs, Delayed cranial suture... OMIM:620005
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Clinodactyly of the 5th finger, Joint stiffness, Abnormal hemoglobin, Brachydactyly, Flex... ORPHA:847
Nephronophthisis 1
Polydipsia OMIM:256100
Lowe Oculocerebrorenal Syndrome
Rickets, Wrist swelling, Genu valgum, Platyspondyly, Pathologic fracture, Scoliosis, Osteomalacia... OMIM:309000
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Sclerosteosis 1
Sclerotic vertebral endplates, Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation... OMIM:269500
Raine Syndrome
Subperiosteal bone formation, Increased bone mineral density, Bowing of the long bones, Long hall... OMIM:259775
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Finger syndactyly, Vert... ORPHA:887
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... ORPHA:69665
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowin... OMIM:269150
Parenteral Nutrition-Associated Cholestasis
Jaundice, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ... ORPHA:567983
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Delayed skeletal maturation, Bradycardia OMIM:218700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Fibular hypoplasia, Hip subluxation, Abnormal vertebral morphology, Cer... ORPHA:444077
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia ORPHA:369929
Radio-Renal Syndrome
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal rib morphology, Microme... ORPHA:3015
Isolated Biliary Atresia
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Elev... ORPHA:30391
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Kyphosis, Broad thu... ORPHA:1507
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, Elevated g... OMIM:605814
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Maternal diabetes, Thin ribs, Short ribs, Short metaca... ORPHA:3404
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Pectus excavatum, Short humerus, Short distal phalanx of ... OMIM:218330
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Midline central nervous system lipomas, Aplasia/Hypoplasia of the tibia, Pre... ORPHA:1827
Neu-Laxova Syndrome
Rickets, Osteopenia, Pterygium, Scoliosis, Osteoporosis, Flexion contracture, Osteomalacia, Arthr... ORPHA:2671
Caroli Disease
Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase concentration, Elev... ORPHA:53035
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Osteoporosis OMIM:560000
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing ribs, Abnormally ossifi... ORPHA:3301
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly, Multipl... OMIM:612301
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal metaphysis morphology, Aplasia/hypoplasia of the femur, Rickets, Broad distal phalanx of... ORPHA:2636
Nephronophthisis 11
Polydipsia OMIM:613550
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Barrel-shaped chest, Vertebral co... OMIM:259770
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating alkaline phosphatase concentration, Avascular necrosis of the capital femora... ORPHA:247691
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Slender long bone, Tracheomalacia, Thin ribs, H... OMIM:234100
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Gitelman Syndrome
Polydipsia, Failure to thrive, Salt craving OMIM:263800
Primary Biliary Cholangitis
Jaundice, Elevated circulating alkaline phosphatase concentration, Portal hypertension, Osteoporo... ORPHA:186
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, ... ORPHA:280
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Joint sti... ORPHA:1300
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo... OMIM:146510
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Genu valgum, Broad long bone diaphyses, Hyperlordosis, Broad metacarpals... OMIM:301066
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Monosomy 9Q22.3
Polydactyly, Abnormality of the vertebral column, Pectus excavatum, Abnormal rib morphology, Kyph... ORPHA:77301
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of hemoglobin F, Umbilical hernia OMIM:619769
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal vertebral morphology, Scoliosis, Hand polydactyly, Micr... ORPHA:261197
Hydrolethalus Syndrome 1
Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Omphalocele, Duplication of... OMIM:236680
Chops Syndrome
Cervical C2/C3 vertebral fusion, Splenomegaly, Brachydactyly, Tracheomalacia OMIM:616368
Phocomelia, Schinzel Type
Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph... ORPHA:2879
Thymoma
Aplastic anemia, Rheumatoid arthritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Le... ORPHA:99867
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion ORPHA:1780
Mucopolysaccharidosis Type 2, Severe Form
Diaphyseal undertubulation, Abnormal vertebral morphology, Inguinal hernia, Arthritis, Hypertensi... ORPHA:217085
Kinsship Syndrome
Polydactyly, Osteopenia, Fibular hypoplasia, Sacral dimple, Dislocated radial head, Scoliosis, Mi... OMIM:619297
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Anemia, Finger syndactyly, Abnormal dental enamel morphology, Abnormal rib ... ORPHA:2908
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Scoliosis, Elevated circulating alkaline phosphatase concentration OMIM:618548
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia OMIM:617994
Mucopolysaccharidosis Type 2, Attenuated Form
Diaphyseal undertubulation, Abnormal vertebral morphology, Inguinal hernia, Arthritis, Hypertensi... ORPHA:217093
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Narrow chest, Inguinal hernia, Metopic synostosis, Short ribs, Hypertens... OMIM:613610
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, 10 pairs of ribs, 11 pairs of ribs, Clinodactyly of the 5th... OMIM:117650
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:615363
Tibial Hemimelia
Absent tibia OMIM:275220
Pagod Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormal rib morphology, Omphaloce... ORPHA:991
Oculocerebrorenal Syndrome Of Lowe
Kyphosis, Joint stiffness, Umbilical hernia, Abnormal epiphysis morphology, Joint hypermobility, ... ORPHA:534
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:619525
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Kagami-Ogata Syndrome
Kyphoscoliosis, Bell-shaped thorax, Inguinal hernia, Limitation of joint mobility, Omphalocele, C... ORPHA:254519
Coccidioidomycosis
Abnormal long bone morphology, Abnormal metacarpal morphology, Panniculitis, Abnormality of the v... ORPHA:228123
Charge Syndrome
Hypoplasia of the ulna, Scoliosis, Hemivertebrae, Absent tibia, Hand monodactyly, Pulmonic stenos... OMIM:214800
Toxic Epidermal Necrolysis
Polydipsia, Dysphagia, Weight loss ORPHA:537
Loeys-Dietz Syndrome 3
Osteopenia, Osteochondritis dissecans, Hip osteoarthritis, Intervertebral disk degeneration, Knee... OMIM:613795
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Clinodactyly of the 5th fing... OMIM:280000
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Salt craving OMIM:612780
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Elevated circulating hepatic transaminase concentratio... OMIM:137920
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic transaminase concentra... ORPHA:398063
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Helix Syndrome
Polydipsia OMIM:617671
Ear-Patella-Short Stature Syndrome
Clinodactyly of the 5th finger, Craniosynostosis, Slender long bone, Mandibular aplasia, Abnormal... ORPHA:2554
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating alkaline phosphatase concentration, Elevated circulating hepatic transaminas... ORPHA:67
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Prominent floating ribs, Anemia, Pancytopenia, Pectus excavatum, Pulmonary arteria... ORPHA:2785
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... OMIM:218600
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411629
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase OMIM:201100
Erdheim-Chester Disease
Polydipsia, Weight loss ORPHA:35687
Trisomy 18
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormality of the lower limb, Pos... ORPHA:3380
Panhypophysitis
Polydipsia ORPHA:95513
Mirizzi Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... ORPHA:521219
Schinzel-Giedion Syndrome
Kyphoscoliosis, Stiff elbow, Tibial bowing, Umbilical hernia, Short distal phalanx of finger, Ove... ORPHA:798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elbow flexion contracture, Hip contracture, Flexion contracture, Knee flexion contracture, Metopi... OMIM:300868
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:617156
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal form of the vertebral bodi... ORPHA:818
Hereditary Acrokeratotic Poikiloderma
Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor... ORPHA:2907
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Rickets, Osteopenia, Reduced bone mineral density, Elevated circulating... OMIM:613658
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Left ventricular systolic dysfunction, Hypophosphatemic rick... ORPHA:51608
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Combined Oxidative Phosphorylation Deficiency 58
Elevated circulating alkaline phosphatase concentration OMIM:620451
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Interface hepatitis, Elevated circulatin... ORPHA:562639
Craniotubular Dysplasia, Ikegawa Type
Diaphyseal dysplasia, Platyspondyly, Increased intervertebral space, Broad ischia, Thin bony cort... OMIM:619727
Celiac Disease, Susceptibility To, 1
Rickets, Elevated circulating hepatic transaminase concentration, Osteoporosis OMIM:212750
Monosomy 9P
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of the vertebral column... ORPHA:261112
Caroli Syndrome
Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentration, Port... ORPHA:480520
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Chondrocalcinosis OMIM:600740
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Sinus bradycardia, Kyphosis OMIM:619482
Brain-Lung-Thyroid Syndrome
Hyperactivity, Compulsive behaviors, Abnormal drinking behavior, Failure to thrive, Abnormal eati... ORPHA:209905
Lysosomal Acid Lipase Deficiency
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Fata... ORPHA:275761
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Parathyroid Carcinoma
Polydipsia, Dysphagia, Weight loss ORPHA:143
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Coat hanger sign of ribs, Thoracic hypoplasia, Omphalocele ORPHA:254534
Wilson Disease
Jaundice, Osteomalacia, Elevated circulating alanine aminotransferase concentration, Osteoporosis... OMIM:277900
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus OMIM:614688
Fryns Syndrome
Rocker bottom foot, Proximal placement of thumb, Thin ribs, Prominent fingertip pads, Aplasia of ... OMIM:229850
Al Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:85443
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphatase of hepatic... ORPHA:100085
Distal Renal Tubular Acidosis
Polydipsia, Failure to thrive ORPHA:18
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Slender long bone, Thin ribs, Ulnar deviation of the hand or of fingers of th... OMIM:208150
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptod... ORPHA:2753
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Failure to thrive OMIM:602522
Zttk Syndrome
Aortic regurgitation, Scoliosis, Hemivertebrae, Kyphosis, Rib fusion, Flexion contracture, Cervic... OMIM:617140
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ... ORPHA:247598
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Tapered toe, Inguinal hernia, Rib fusion, Tapered ... ORPHA:544488
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411634
Autosomal Dominant Centronuclear Myopathy
Areflexia of lower limbs, Thin ribs, Calf muscle hypertrophy, Abnormality of the foot musculature ORPHA:169189
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
1P36 Deletion Syndrome
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Scoliosis, Delayed cranial suture c... ORPHA:1606
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Polyphagia, Compulsive behaviors, Obesity, Self-injurious behavior, Aggressive behavior ORPHA:293987
Cystinosis, Nephropathic
Polydipsia, Failure to thrive, Dysphagia, Weight loss, Failure to thrive in infancy OMIM:219800
Hypomagnesemia 3, Renal
Rickets, Genu valgum, Short metacarpal, Bowing of the legs, Elevated circulating alkaline phospha... OMIM:248250
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Abnormal vertebral morphology, Triphalangeal thum... OMIM:192350
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Short humerus, Long toe, Clinodactyly, Genu varum, Delayed closure of the anterior f... OMIM:264090
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Osteoporosis ORPHA:309031
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Short clavicles, Short long bone, Short ribs, Postaxial ... OMIM:617088
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Pectus excavatum, Cutaneous finger syndactyly, Shortening of all... OMIM:211380
Wolfram Syndrome
Polydipsia ORPHA:3463
Digeorge Syndrome
Scoliosis, Patellar dislocation, Intervertebral disk degeneration OMIM:188400
Primary Sclerosing Cholangitis
Osteopenia, Jaundice, Elevated circulating hepatic transaminase concentration, Elevated alkaline ... ORPHA:171
Gitelman Syndrome
Polydipsia, Failure to thrive, Salt craving ORPHA:358
Proximal Renal Tubular Acidosis
Polydipsia, Failure to thrive ORPHA:47159
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Charge Syndrome
Polydactyly, Clinodactyly of the 5th finger, Abnormal tibia morphology, Talipes, Abnormality of b... ORPHA:138
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu... OMIM:124000
Reynolds Syndrome
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating hepatic t... OMIM:613471
Bartter Syndrome, Type 2, Antenatal
Polydipsia, Failure to thrive, Small for gestational age OMIM:241200
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Osteopenia, Jaundice, Portal hypertension, Elevated circulating alanine aminotransfe... OMIM:619534
Arima Syndrome
Polydipsia OMIM:243910
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice, Elevated gamma-glutamyltr... ORPHA:100086
Restrictive Dermopathy
Osteopenia, Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Decreased skull ossification, Str... ORPHA:1662
Craniofacial Microsomia 1
Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Partial duplication of thumb phalanx... OMIM:164210
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Chondrocalcinosis ORPHA:405
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly affecting the 3rd... ORPHA:672
Chromosome 1P36 Deletion Syndrome, Distal
Pes cavus, Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed closure of the a... OMIM:607872
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Cervical ribs, Ischemic stroke, Kyphoscoliosis, Hyperextensible hand joints, Slender long bone, H... ORPHA:500150
Alagille Syndrome 1
Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology, Short d... OMIM:118450
Townes-Brocks Syndrome
Abnormal foot morphology, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal vertebral... ORPHA:857
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomalacia, Joint swelling, Hepatitis, Osteomyelitis OMIM:619381
Fraser Syndrome
Finger syndactyly, Vertebral segmentation defect, Abnormal rib morphology, Omphalocele, Limb unde... ORPHA:2052
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures ORPHA:3337

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term developmental dysplasia Slc29a1tm2b(NCOM)Mfgc HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc29a1.

No publications found that use IMPC mice or data for Slc29a1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Slc29a1tm2b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Slc29a1tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Slc29a1tm2a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Slc29a1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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