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

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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.

Combined SHIRPA and Dysmorphology

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3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Eye Morphology

Images Ophthalmoscopy

11 Images

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Gross Pathology and Tissue Collection

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9 Images

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Histopathology

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2 Images

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Eye Morphology

Images Slit Lamp

1 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
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Elevated circulat... OMIM:615198
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Elevated alkaline phosphatase of bone origin, B... OMIM:615923
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Hypophosphatasia, Adult
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susc... OMIM:146300
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... OMIM:239100
Osteosarcoma
Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration... ORPHA:668
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling, Short 3rd metacarpal,... OMIM:118651
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Osebold-Remondini Syndrome
Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,... OMIM:112910
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral bodies, Scolios... ORPHA:3319
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Limited elbow movement, Abnormal metatarsal morphology, Abnorma... OMIM:127300
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Elevated circulating alkaline phos... OMIM:126550
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... ORPHA:3268
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Diamond-Blackfan Anemia 6
Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, ... OMIM:612561
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal acetabulum morp... ORPHA:93311
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... OMIM:171480
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Vertebral wed... OMIM:610968
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Pectus carinatum, Iron deficie... ORPHA:93315
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Elevated circulating alkaline phosphatase concentration, Pa... OMIM:174810
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... OMIM:618849
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen... OMIM:600081
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... OMIM:617021
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating alkaline phosphatase conc... OMIM:619073
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... OMIM:122860
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Osteoporosis, Hypertension, Increased mean corpuscul... ORPHA:2169
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Tapered finger, Long fingers, Atrioventricular block, Glucose intoler... OMIM:614407
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Spondyloepimetaphyseal Dysplasia, Irapa Type
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... ORPHA:93351
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... ORPHA:2760
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis, Ele... OMIM:606631
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Sillence Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adduc... ORPHA:3168
Hypophosphatasia, Childhood
Rachitic rosary, Low alkaline phosphatase, Craniosynostosis, Bowing of the legs OMIM:241510
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... ORPHA:66637
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ... ORPHA:210110
Myopathy, Myofibrillar, 1
Hyporeflexia of lower limbs, Dilated cardiomyopathy, Third degree atrioventricular block, Bradyca... OMIM:601419
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia OMIM:300946
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... ORPHA:329475
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Diamond-Blackfan Anemia 7
Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Scol... OMIM:612562
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Aarskog-Scott Syndrome
Finger syndactyly, Inguinal hernia, Pes planus, Genu recurvatum, Camptodactyly of finger, Talipes... ORPHA:915
Diamond-Blackfan Anemia 1
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow chest, Triph... OMIM:105650
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... OMIM:612447
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplas... ORPHA:811
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th... OMIM:620076
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Hype... OMIM:610947
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures OMIM:616833
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... OMIM:605274
Majeed Syndrome
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Delayed skeletal maturation, F... OMIM:609628
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen... OMIM:241530
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Micrognathia, Absent radius... ORPHA:3320
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Ta... OMIM:618845
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia, Scoliosis OMIM:616276
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Holt-Oram Syndrome
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... ORPHA:392
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Micrognathia... ORPHA:2522
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... OMIM:178110
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Abnormal sacrum morphology, Rib fu... ORPHA:1988
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Rickets, Osteo... OMIM:193100
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Vertebral fusion, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... ORPHA:313892
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... ORPHA:95717
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Type II dia... ORPHA:1436
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro... ORPHA:1350
Stuve-Wiedemann Syndrome 1
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin... OMIM:601559
Eiken Syndrome
Short palm, Absence of the sacrum, Abnormal trabecular bone morphology, Abnormal acetabulum morph... ORPHA:79106
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Osteopenia, Tachycardia, Atrial fibrillation, Lipodystrophy, Accelerated s... OMIM:613327
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of... ORPHA:231222
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia ORPHA:46532
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... ORPHA:1836
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hypoglycemia, Bradycardia OMIM:619048
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Short... OMIM:616809
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone pain, Retinal hemorrh... ORPHA:86839
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Low alkaline phosphatase, Brachydactyly OMIM:618879
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia, Weight loss ORPHA:178029
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Sclerosis of skull base... OMIM:269300
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... OMIM:616829
Bile Acid Conjugation Defect 1
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:619232
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Thoracic scoliosis, Tricuspid regurgitation, Talipes, Spinal r... OMIM:620351
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Kyphosis, Dilated cardiomyopathy, Mitral regurgitation... ORPHA:261250
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Glucose intolerance, Short middle phalanx of f... OMIM:309620
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
X-Linked Hypophosphatemia
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... ORPHA:89936
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ... ORPHA:628
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... OMIM:108720
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Beta-Thalassemia Major
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231214
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... OMIM:185000
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Acheiropody
Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of the ulna, Absent radiu... OMIM:200500
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic... ORPHA:1445
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B... OMIM:127550
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... ORPHA:356961
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Vitamin D-Dependent Rickets, Type 2A
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Robinow Syndrome, Autosomal Recessive 1
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata... OMIM:259440
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Genu valgum, Elevated circulating alkaline phosphatase concentration, Hypophosphatemi... OMIM:613312
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Short neck, Micrognathia, Erythroid hypoplasia, Sh... ORPHA:124
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... OMIM:608940
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... ORPHA:93267
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Atelosteogenesis Type Iii
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... ORPHA:56305
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypopl... ORPHA:96334
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular tachycardia, Atrioventricular block, Cutaneous s... OMIM:601005
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Missing ribs, Micromelia, Micrognathia, Humeroradial synostosis, Ab... OMIM:251230
Carnitine-Acylcarnitine Translocase Deficiency
Hypoglycemia, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricu... OMIM:212138
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib mor... ORPHA:1354
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Glutamine Deficiency, Congenital
Flexion contracture, Bradycardia, Micromelia, Camptodactyly OMIM:610015
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... OMIM:602271
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Increased... OMIM:259700
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Hypophosphatasia, Infantile
Craniosynostosis, Bowing of the legs, Vertebral clefting, Low alkaline phosphatase, Increased sus... OMIM:241500
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia, Micrognathia OMIM:614498
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umbilical hernia, Ab... ORPHA:226313
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... OMIM:606612
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... OMIM:618000
Frontometaphyseal Dysplasia 1
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... OMIM:305620
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Grant Syndrome
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abn... ORPHA:2097
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Abnormal thorax morphology, Bradycardia, Hypotension ORPHA:70587
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Osteoarthritis, Cardiomyopathy, Glucose intoleranc... OMIM:606069
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Necrotizing Enterocolitis
Shock, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Abnormal glucose homeostasis, Hypergl... ORPHA:391673
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... OMIM:608728
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... OMIM:616860
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Cln3 Disease
T-wave inversion, Vacuolated lymphocytes, Bradycardia ORPHA:228346
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Delayed skeletal maturation, Osteoarthr... OMIM:602111
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Caudal Regression Syndrome
Maternal diabetes, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ilia... ORPHA:3027
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Inguinal hernia, Club-shaped proximal femur, Brachydactyly, Anterior rib cupping, Hyp... OMIM:184250
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... OMIM:619658
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Abnormal... ORPHA:93160
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Bradycardia, Umb... ORPHA:95716
Eisenmenger Syndrome
Ventricular tachycardia, Pedal edema, Iron deficiency anemia, Supraventricular tachycardia, Tricu... ORPHA:97214
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Hypoglycemia, Sandal gap, Hypoplasia of the radius, Short... OMIM:607143
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Multiple joint disl... OMIM:618395
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal s... OMIM:260400
Pseudo-Torch Syndrome 2
Thrombocytopenia, Bradycardia, Cerebral hemorrhage, Thin ribs OMIM:617397
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,... ORPHA:2916
Achondrogenesis Type 1B
Femoral hernia, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short tho... ORPHA:93298
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... ORPHA:90652
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... OMIM:618019
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Mucopolysaccharidosis Type 4
Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Abnormal d... ORPHA:582
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared... OMIM:616300
Occipital Horn Syndrome
Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win... ORPHA:198
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Heart block, Accelerated skeletal maturation, Metaphyseal chondrodysplasi... ORPHA:175
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hypoglycemia, Bradycardia OMIM:614702
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Diabetes mellitus, Bradycardia OMIM:609286
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Cardiomyopathy, Bradycardia, P... OMIM:615745
Hypophosphatasia
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... ORPHA:436
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume OMIM:611590
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydac... OMIM:263520
Autosomal Dominant Hypophosphatemic Rickets
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Bradycardia, Arrhythm... ORPHA:330001
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... OMIM:274000
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol... OMIM:258860
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Elevated circulating alkaline phosphatase con... OMIM:620366
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Micrognathia... ORPHA:3035
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Osteolysis, Increased susceptibility to fractures, Abnormal long bone morphology, ... ORPHA:52430
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Proximal Spinal Muscular Atrophy
Multiple joint contractures, Flexion contracture, Hip dislocation, Elbow flexion contracture, Abs... ORPHA:70
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... OMIM:150250
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Ankle clonus, Bradycardia, Scoliosis, Prominent calcaneus, Neonatal... ORPHA:565624
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... OMIM:265000
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... OMIM:615583
Melnick-Needles Syndrome
Omphalocele, Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure,... ORPHA:2484
Klippel-Feil Syndrome 2, Autosomal Recessive
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly OMIM:214300
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Wide cranial sutures, Elevated alkaline phosphatase of bone origin, Os... ORPHA:289157
Acromesomelic Dysplasia 4
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... OMIM:619636
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... ORPHA:168555
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... OMIM:244460
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Plantar pits, Hemivertebrae, Vertebral wedging, Scoliosis, Brac... ORPHA:377
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... OMIM:259420
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Achondrogenesis Type 1A
Multiple rib fractures, Femoral hernia, Recurrent fractures, Micromelia, Short neck, Abnormal enc... ORPHA:93299
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Plan... OMIM:109400
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Acc... ORPHA:373
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Abnormal pelvis bone mor... ORPHA:73
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Frontometaphyseal Dysplasia
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... ORPHA:1826
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... OMIM:613848
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect... ORPHA:2911
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... OMIM:250420
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Thro... OMIM:618775
Alkaptonuria
Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Limited hip moveme... OMIM:203500
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cardiomyopathy, Cervical ... OMIM:616549
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Clinodactyly of the 5th... OMIM:261990
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Hyperglycemia, Abnormality of the cervical spine, Glucose intolerance OMIM:307500
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... ORPHA:324575
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... OMIM:271520
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Greenberg Dysplasia
Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine... OMIM:215140
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300554
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Microgna... OMIM:258315
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Neutrophilia, Splenomegaly, Periostitis, Osteolysis, Fused cervical ve... OMIM:612852
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... ORPHA:93317
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... OMIM:253010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Ankle clonus, Congenital contracture, Scoliosis, Type I d... OMIM:618397
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Tetanus
Hypertension, Tachycardia, Stiff neck, Bradycardia ORPHA:3299
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Metaphyseal chondrodysplasia, Knee flexion... OMIM:156400
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Elevated circulating alkaline phosphatase concentration OMIM:174050
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... OMIM:253000
Becker Nevus Syndrome
Lipoatrophy, Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphol... ORPHA:64755
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Abnormal pelvic girdle bone morphology, Paget disease of bone, Lumbar hyperlordosis, Elevated alk... OMIM:167320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, F... ORPHA:276580
Aapoaiv Amyloidosis
Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes m... ORPHA:439232
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Multi... OMIM:616897
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Abnormality of alkaline phosphatase level, Short distal phalanx of toe, Bilateral triphalangeal t... OMIM:619356
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp... OMIM:617925
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of t... ORPHA:1901
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Co... ORPHA:958
Boudin-Mortier Syndrome
Joint laxity, Mallet finger, Long toe, Elevated alkaline phosphatase of bone origin, Arachnodacty... OMIM:619543
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... OMIM:224300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cartilage-Hair Hypoplasia
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Neutropenia, Joint lax... OMIM:250250
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration OMIM:615426
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... OMIM:619484
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Neutropenia,... ORPHA:2643
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Micrognathia, Kyphosis, Postaxial hand polydact... ORPHA:3082
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Elevated alkaline phosphatase of bone origin, Osteomalacia, Bowing of the legs, Reduced bone mine... ORPHA:157215
Lateral Meningocele Syndrome
Vertebral fusion, Inguinal hernia, Short neck, Pectus excavatum, Kyphosis, Micrognathia, Keloids,... OMIM:130720
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Rhizomelia, Recurrent f... OMIM:616229
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Abnormal hand bone o... OMIM:200600
Fibrochondrogenesis 2
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... OMIM:614524
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:214900
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Bardet-Biedl Syndrome 9
Truncal obesity, Polydipsia, Polyphagia, Obesity OMIM:615986
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Joint hypermobilit... OMIM:617952
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femoral bowing, Tibial bowing, Small... ORPHA:93356
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hemivertebrae, Narrow chest, V... OMIM:213980
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Abnormality of the elbow, Abnormal rib morphology, Abnormal finger m... ORPHA:2319
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilated cardiomy... ORPHA:563
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib morphol... ORPHA:1486
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... OMIM:143095
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Short neck, Micrognathia, Short toe, Flexion contracture, Pectus carinatum, Ta... ORPHA:98791
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... OMIM:271640
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Sepsis In Premature Infants
Tachycardia, Thrombocytopenia, Leukocytosis, Splenomegaly, Bradycardia, Hypotension, Neutropenia,... ORPHA:90051
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Kniest Dysplasia
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... OMIM:156550
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... OMIM:235555
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Accelerated skelet... ORPHA:1517
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas... ORPHA:289176
Hyperparathyroidism, Transient Neonatal
Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r... OMIM:618188
Mosaic Trisomy 14
Camptodactyly of finger, Micrognathia, Short neck, Lower limb asymmetry, Abnormal rib morphology,... ORPHA:1703
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... ORPHA:2311
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy... OMIM:614653
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis ORPHA:529665
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Rhizomel... OMIM:611209
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Pectus excavatum, Kyphosis, ... ORPHA:96169
Kyphomelic Dysplasia
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... OMIM:211350
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia OMIM:619272
Cooper-Jabs Syndrome
Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of thu... ORPHA:1488
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra... ORPHA:2307
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Pectus excavatum, Kyphosis, Hip disloca... OMIM:610443
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Acro-Renal-Ocular Syndrome
Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Lujo Hemorrhagic Fever
Shock, Stiff neck, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia... ORPHA:319213
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, As... OMIM:252900
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... ORPHA:93324
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... OMIM:148050
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... OMIM:210720
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... OMIM:173800
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... OMIM:164900
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Clinodact... OMIM:139210
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
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
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Cholestasis, Benign Recurrent Intrahepatic, 2
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice OMIM:605479
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Inguinal hernia, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatars... OMIM:227330
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration OMIM:619656
Fibrochondrogenesis
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... ORPHA:2021
Cleidocranial Dysplasia
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... ORPHA:1452
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Micrognathia, Thrombocytopenia, Delayed skeletal maturation, Bell-shaped thorax,... OMIM:614857
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... OMIM:602196
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal t... ORPHA:1120
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Micrognathia, Short tubular bones... ORPHA:85184
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Bon... ORPHA:666
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
D-Glyceric Aciduria
Hypoglycemia, Bradycardia OMIM:220120
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Radial head s... ORPHA:2634
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Sprengel anomaly, Wrist flexio... ORPHA:800
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Ost... OMIM:614008
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Conges... OMIM:230500
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Pectus ex... OMIM:618150
Dent Disease 1
Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the le... OMIM:300009
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia, Epistaxis ORPHA:90042
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Syncope, Jaw claudication, Bradycardia ORPHA:221098
Spondyloepimetaphyseal Dysplasia, Krakow Type
Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndactyly, Knee flexion contracture, Ir... OMIM:618162
Renpenning Syndrome
Diabetes mellitus, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib mor... ORPHA:3242
Fanconi Renotubular Syndrome 1
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia OMIM:134600
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... ORPHA:2876
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Elevated circulating aspartate aminotransferase concentrati... ORPHA:2088
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia OMIM:617948
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... ORPHA:2772
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... ORPHA:2475
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Elevated circulating alkaline phosphatase concentration OMIM:615424
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Umbilical hernia, Delayed proximal femoral epiphyseal ossification... ORPHA:90673
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hyperm... ORPHA:508498
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce... ORPHA:1724
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Tricuspid regurgitation, Talipes equinovarus, Short femur OMIM:620306
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:613489
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... OMIM:200980
Vascular Malformation, Primary Intraosseous
Elevated circulating alkaline phosphatase concentration OMIM:606893
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asy... OMIM:252930
Mucopolysaccharidosis, Type X
Aortic regurgitation, Beaking of vertebral bodies, Irregular acetabular roof, Spatulate ribs, Bro... OMIM:619698
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo... ORPHA:73230
Fanconi Anemia, Complementation Group I
Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Neutro... OMIM:609053
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... ORPHA:2180
Glycosylphosphatidylinositol Biosynthesis Defect 11
Elevated circulating alkaline phosphatase concentration OMIM:616025
Bohring-Opitz Syndrome
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Micrognathia, Pectus ex... ORPHA:97297
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Hypertension, Bradycardia, Hypot... ORPHA:94093
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive OMIM:304800
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Long clavicles, Kyphoscoliosis, Micrognathia, Coxa valga, Splenomeg... OMIM:608149
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P... OMIM:603671
Marburg Hemorrhagic Fever
Shock, Back pain, Tachycardia, Pericarditis, Reticulocytosis, Lymphopenia, Hypoglycemia, Hypovole... ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Internal hemorrh... ORPHA:99827
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Split hand, Patellar aplasia, Hand monodactyly, Split fo... OMIM:119100
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia OMIM:610768
Familial Cold Urticaria
Polydipsia ORPHA:47045
Aggressive Systemic Mastocytosis
Portal hypertension, Osteoporosis, Osteolysis, Elevated circulating alkaline phosphatase concentr... ORPHA:98850
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho... ORPHA:2050
Aicardi Syndrome
Block vertebrae, Missing ribs, Hiatus hernia, Rib fusion, Small hand, Multiple lipomas, Hip dyspl... ORPHA:50
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Sheehan Syndrome
Orthostatic hypotension, Hypoglycemia, Normochromic anemia, Palpitations, Bradycardia ORPHA:91355
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Micrognathia, Bowing of the legs, Pectus carinatum, Knee flexion contract... OMIM:271665
Developmental And Epileptic Encephalopathy 95
Joint laxity, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Low alkaline p... OMIM:618143
Encephalitis Lethargica
Limb pain, Stiff neck, Bradycardia ORPHA:83600
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed skeletal maturation, Delayed proximal femoral epiphyseal ossification, Bradycardia, Abnor... ORPHA:90674
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Abnormal rib morpholog... ORPHA:2145
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cholesteryl Ester Storage Disease
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... OMIM:278000
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... ORPHA:1145
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... ORPHA:2769
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Pes planus, Sandal gap, Short h... OMIM:607323
Shashi-Pena Syndrome
Short metacarpal, Hypoglycemia, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosi... OMIM:617190
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th... OMIM:615716
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... OMIM:253220
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular... OMIM:252600
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Lumbar hyperlordosis, Hypertension, Anemia OMIM:184850
Antley-Bixler Syndrome
Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ... ORPHA:83
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:613812
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... ORPHA:263501
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Splenomegaly... ORPHA:583
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle... OMIM:617895
Osteofibrous Dysplasia, Susceptibility To
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Short neck, Missing ribs, ... ORPHA:1834
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Delayed skeletal maturation, Short toe,... OMIM:609441
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal h... OMIM:252920
Teratoma, Pineal
Polydipsia OMIM:273120
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, He... OMIM:224690
Graft Versus Host Disease
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... ORPHA:39812
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin... OMIM:276820
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Micrognathia, Hemivertebrae, ... OMIM:134780
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ... ORPHA:85167
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly OMIM:617333
Microphthalmia With Limb Anomalies
Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ... OMIM:206920
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets OMIM:616026
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Rickets,... OMIM:607765
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:617093
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... OMIM:619662
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... OMIM:182212
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Short neck, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Bra... ORPHA:226307
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Arachnodactyly, Pectus excavatum, Delayed skeletal maturation, Thin metacarpal cortic... ORPHA:2463
Hurler Syndrome
Abnormal clavicle morphology, Angina pectoris, Camptodactyly of finger, Short neck, Splenomegaly,... ORPHA:93473
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... OMIM:616294
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Hemivertebrae, Rib fus... OMIM:304050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Sandal gap, Abnormal finger flexion ... OMIM:210600
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Tricuspid regurgitation, Sandal gap, Elevated hemoglobin A1c, Joint stiffness, Pectus... OMIM:619127
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Micrognathia, ... ORPHA:97360
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion, Pseudoep... OMIM:194190
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Early ossification of capital femoral epiphyses, C... OMIM:208500
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... ORPHA:79345
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... OMIM:617137
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... ORPHA:163966
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Aplasia/Hypoplasia of the distal phalanges of the toes, Tachycardia, Syncope, Premature ventricul... OMIM:192445
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F... ORPHA:1788
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum,... OMIM:614437
Castleman Disease
Myelofibrosis, Anemia, Decreased mean corpuscular volume, Restrictive cardiomyopathy, Thrombocyto... ORPHA:160
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Absent radius, Preaxial hand polydacty... ORPHA:233
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... OMIM:101200
Cystinosis
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms ORPHA:213
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Fanconi-Bickel Syndrome
Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrahepatic cholest... OMIM:227810
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... OMIM:616828
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Postaxial polydactyly, Elevated circulating alkaline phosphatase c... OMIM:614576
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe... OMIM:304150
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Pectus excavatum, Leukocytosis, Hepatosplenomega... OMIM:618278
Nephrogenic Diabetes Insipidus
Polydipsia, Failure to thrive, Anorexia ORPHA:223
Ochoa Syndrome
Polydipsia ORPHA:2704
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... OMIM:617796
Premature Aging Syndrome, Penttinen Type
Hyperextensibility of the knee, Micrognathia, Palmoplantar hyperkeratosis, Tibial bowing, Short p... OMIM:601812
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Elevated circulating alkaline phosphatase concentration, Intermittent j... OMIM:601847
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn... ORPHA:95699
Xylt1-Cdg
Joint dislocation, Joint laxity, Pes planus, Accelerated skeletal maturation, Coxa valga, Flared ... ORPHA:370930
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Alagille Syndrome
Hypoplasia of the ulna, Telangiectasia of the skin, Micrognathia, Delayed skeletal maturation, Ab... ORPHA:52
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... OMIM:119800
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... OMIM:200610
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Jaundice, Rickets, Intrahepatic cholestasis with episodic jaundice OMIM:211600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobili... ORPHA:3068
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed skeletal maturation, S... OMIM:612921
Cousin Syndrome
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... OMIM:260660
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae, Joint hypermobility, Micro... OMIM:617101
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Lateral clavicle hook, ... ORPHA:3144
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Pedal edema, Sinus bradycardia OMIM:126320
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... OMIM:617159
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A... OMIM:618265
Yellow Fever
Shock, Low back pain, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capil... ORPHA:99829
Lethal Congenital Contracture Syndrome 10
Omphalocele, Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Micrognathia, Femor... OMIM:617022
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated hepat... ORPHA:263455
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Broad hallux... OMIM:614749
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Omodysplasia 2
Short humerus, Micrognathia, Short 1st metacarpal, Fibular hypoplasia, Limited elbow flexion/exte... OMIM:164745
Osteogenesis Imperfecta, Type Vii
Osteopenia, Multiple rib fractures, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurr... OMIM:610682
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib mor... ORPHA:96061
Xq12-Q13.3 Duplication Syndrome
Cutaneous finger syndactyly, Low alkaline phosphatase, 2-3 toe syndactyly ORPHA:314389
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Bardet-Biedl Syndrome 17
Polydipsia, Obesity OMIM:615994
Apparent Mineralocorticoid Excess
Polydipsia, Failure to thrive ORPHA:320
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Pediatric-Onset Graves Disease
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ri... OMIM:157800
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Alpha-Mannosidosis, Infantile Form
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... ORPHA:309282
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Aspergillosis
Osteomyelitis, Eosinophilia, Abnormal rib morphology, Intracranial hemorrhage, Abnormal long bone... ORPHA:1163
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Inguinal hernia, Arachnodactyly, Camptodactyly of fin... ORPHA:2215
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Dilated cardiomyopathy, Osteoporosis, Bradycardia, Mitten deformit... ORPHA:79404
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia ORPHA:90037
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... ORPHA:71275
Weill-Marchesani Syndrome 2
Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Delayed ... OMIM:608328
Peroxisome Biogenesis Disorder 5A (Zellweger)
Persistent open anterior fontanelle, Elevated circulating aspartate aminotransferase concentratio... OMIM:614866
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... OMIM:619227
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Tapered finger, Short toe, Elevated circulating alkaline phosphatase concentration, Delayed ossif... OMIM:239300
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Missing ... ORPHA:1647
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Abnorma... ORPHA:667
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Gen... OMIM:225500
Hyperphosphatasia-Intellectual Disability Syndrome
Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc... ORPHA:247262
Trichohepatoneurodevelopmental Syndrome
Joint laxity, Overlapping toe, Hip dislocation, Short foot, Elevated circulating alkaline phospha... OMIM:618268
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... ORPHA:3378
Estrogen Resistance Syndrome
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... ORPHA:785
Infantile Systemic Hyalinosis
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... ORPHA:2176
Gallbladder Disease 1
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration OMIM:600803
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Shortening of all distal phalanges of the fingers, Elevated circulating alkaline phosphatase conc... OMIM:614207
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Tapered finger, Absent frontal sinuses, Kyphosis, Coxa valga, Reduced alpha/beta ... OMIM:301040
Lymphangiectasia, Intestinal
Lymphopenia, Prominent floating ribs, Pedal edema OMIM:152800
Dextrocardia
Abnormal EKG, Congenital hip dislocation, Abnormality of the spleen, Abnormal foot morphology, Ab... ORPHA:1666
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Omphalocele, Inguinal hernia, Long toe, Overlapping toe, Pectus excavatum, Flexion ... ORPHA:254528
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Hypoplastic scapulae, Short neck, Bowing of the legs, Splenomegaly,... OMIM:269860
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short... OMIM:252940
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... ORPHA:2970
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Cystic Echinococcosis
Elevated hepatic transaminase, Jaundice, Bone cyst, Elevated circulating alkaline phosphatase con... ORPHA:400
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... OMIM:304120
Lathosterolosis
Elevated hepatic transaminase, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polydacty... OMIM:607330
Hypercholanemia, Familial 1
Rickets OMIM:607748
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... ORPHA:2167
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ... ORPHA:1318
Nephronophthisis 4
Polydipsia OMIM:606966
Trisomy 1Q
Omphalocele, Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenit... ORPHA:261344
Renal Hypoplasia
Polydipsia, Small for gestational age ORPHA:93101
3-Methylglutaconic Aciduria, Type Viii
Bradycardia, Neonatal hypoglycemia, Neutropenia OMIM:617248
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c... OMIM:620369
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Multiple pterygia, Micrognathia, Pec... ORPHA:2990
Severe Congenital Nemaline Myopathy
Increased connective tissue, Multiple prenatal fractures, Abnormal thorax morphology, Flexion con... ORPHA:171430
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the musculature of the lower limbs, Fused cervical vertebrae, Fatigabl... ORPHA:268882
Dent Disease
Enlarged epiphyses, Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Osteomalac... ORPHA:1652
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Mitral regurgitat... OMIM:277600
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Craniofacial hyperostosis, Inguinal hernia, Joint stiffness, Avascu... ORPHA:581
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... OMIM:613095
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia OMIM:601076
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Thin ribs, Congenital contracture OMIM:615368
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal st... ORPHA:2519
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Micrognathi... ORPHA:263508
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Inguinal hernia, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Shor... OMIM:613458
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Craniosynostosis, Low alkaline phosphatase, Upper limb undergrowth, Slender long bone... ORPHA:369837
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Osteopenia, Joint dislocation, Congenital hip dislocation, Joint lax... OMIM:225400
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity ORPHA:3157
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... ORPHA:284984
Whipple Disease
Cachexia, Polydipsia, Anorexia ORPHA:3452
Myhre Syndrome
Craniofacial hyperostosis, Inguinal hernia, Brachydactyly, Femoral hernia, Joint stiffness, Abnor... ORPHA:2588
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Decreased skull os... OMIM:602361
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... OMIM:151050
Developmental And Epileptic Encephalopathy 80
Elevated circulating alkaline phosphatase concentration, Short distal phalanx of finger, Triphala... OMIM:618580
Hyperparathyroidism, Neonatal Severe
Polydipsia, Failure to thrive OMIM:239200
Osteopathia Striata With Cranial Sclerosis
Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B... OMIM:300373
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Mccune-Albright Syndrome
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Hepatitis, Abnormal femur morp... ORPHA:562
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... ORPHA:488434
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Asplenia, Short ... OMIM:306955
Primary Biliary Cholangitis
Portal hypertension, Jaundice, Osteoporosis, Hepatitis, Elevated circulating alkaline phosphatase... ORPHA:186
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Long clavicles, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Micro... ORPHA:83617
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Rocker bottom foot, Limitation of joint m... ORPHA:79474
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Portal hypertension, Jaundice, Elevated circulating alkaline phosp... ORPHA:567983
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:612089
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, 11 pairs of ribs, Portal hypertension, Craniosynostosis, Tapered f... OMIM:620005
Lead Poisoning
Delayed skeletal maturation, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T ce... ORPHA:330015
Nephronophthisis 3
Polydipsia OMIM:604387
Citrullinemia, Type Ii, Neonatal-Onset
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... OMIM:605814
Nephronophthisis 1
Polydipsia OMIM:256100
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Elevated circulating alkaline phosphata... OMIM:259775
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Vacterl/Vater Association
Omphalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic... ORPHA:887
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Joint stiffness, Flexion contracture, Talipes equinovarus, Clinodactyly of t... ORPHA:847
Isolated Biliary Atresia
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:30391
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... OMIM:269500
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Delayed skeletal maturation, Bradycardia OMIM:218700
Radio-Renal Syndrome
Micromelia, Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Hypoplas... ORPHA:3015
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice ORPHA:69665
Autosomal Recessive Robinow Syndrome
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t... ORPHA:1507
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Maternal diabetes, Short neck, Micrognathia, Humeroradial synost... ORPHA:3404
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia ORPHA:369929
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Cervical C2/C3 vertebral fusion, Micrognathia, Congestive heart failure, Small han... ORPHA:444077
Cranioectodermal Dysplasia 1
Narrow chest, Joint laxity, Rhizomelia, Sagittal craniosynostosis, Short toe, Short thorax, Osteo... OMIM:218330
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Micrognathia, Missing ribs, Abnormal rib morphology, Aplasia/Hypop... ORPHA:3301
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Osteop... OMIM:612301
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Arthrogryposis m... ORPHA:2671
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p... ORPHA:1827
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Avascular necrosis of the capital femoral epiphysis, Elevated circulating alkaline phosphatase co... ORPHA:247691
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f... ORPHA:2636
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Camptodactyly of finger, Osteomalacia,... OMIM:309000
Caroli Disease
Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminotransf... ORPHA:53035
Nephronophthisis 11
Polydipsia OMIM:613550
Oligomeganephronia
Polydipsia, Small for gestational age ORPHA:2260
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... OMIM:259770
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Gitelman Syndrome
Failure to thrive, Polydipsia, Salt craving OMIM:263800
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Hallermann-Streiff Syndrome
Wormian bones, Hyperlordosis, Pectus excavatum, Micrognathia, Metaphyseal widening, Telangiectasi... OMIM:234100
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Split hand, Abnormal rib morpho... ORPHA:1300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Hypoglycemia, Hyperlordosis, Tapered finger, Hip dislocation, Genu valgum, Hepatosple... OMIM:301066
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Umbilical hernia, Hiatus hernia OMIM:619769
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... ORPHA:280
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... ORPHA:99867
Monosomy 9Q22.3
Accelerated skeletal maturation, Pectus excavatum, Short neck, Kyphosis, Plantar pits, Abnormal r... ORPHA:77301
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyl... OMIM:236680
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Short neck, Aplasia o... ORPHA:2879
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck ORPHA:1780
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin OMIM:615363
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Congenital diaphragmatic hernia, Micrognathia, Rib fusion, Hand polydactyly, Sc... ORPHA:261197
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Elevated circulating alkaline phosphatase concentration, Scoliosis OMIM:618548
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly, Splenomegaly OMIM:616368
Kinsship Syndrome
Osteopenia, Pes planus, Sacral dimple, Short neck, Micrognathia, Coxa valga, Hip dislocation, Fib... OMIM:619297
Kindler Epidermolysis Bullosa
Finger syndactyly, Abnormal dental enamel morphology, Camptodactyly of finger, Flexion contractur... ORPHA:2908
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619525
Oculocerebrorenal Syndrome Of Lowe
Micrognathia, Osteomalacia, Abnormal dental enamel morphology, Abnormal rib morphology, Joint hyp... ORPHA:534
Pagod Syndrome
Omphalocele, Abnormal clavicle morphology, Sudden cardiac death, Congenital diaphragmatic hernia,... ORPHA:991
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Gout, Elevated hepatic transaminase OMIM:137920
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Elevated circulating aspartate aminotransferase concentration, Broad 2nd toe, Elevated circulatin... OMIM:280000
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Splenomegaly, Fl... ORPHA:217085
Hypomagnesemia 3, Renal
Polydipsia, Failure to thrive OMIM:248250
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Kyphoscoliosis, Short neck, Micrognathia, Coxa valga, Limitation of... ORPHA:254519
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Thin ribs OMIM:614833
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectus excav... OMIM:613610
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Charge Syndrome
Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short t... OMIM:214800
Wilson Disease
Acute hepatic failure, Osteomalacia, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Coccidioidomycosis
Pericarditis, Osteomyelitis, Eosinophilia, Abnormality of the spleen, Vasculitis, Osteolysis, Aty... ORPHA:228123
Tibial Hemimelia
Absent tibia OMIM:275220
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Splenomegaly, Fl... ORPHA:217093
Refractory Celiac Disease
Elevated hepatic transaminase, Osteoporosis, Elevated alkaline phosphatase of bone origin ORPHA:398063
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Micrognathia, Pectus excavatum, Thrombocytopenia, Leukopenia, ... ORPHA:2785
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polydipsia, Salt craving OMIM:612780
Toxic Epidermal Necrolysis
Polydipsia, Weight loss, Dysphagia ORPHA:537
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration ORPHA:67
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Low alkaline phosphatase OMIM:201100
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Micrognathia, De... ORPHA:2554
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr... OMIM:218600
Helix Syndrome
Polydipsia OMIM:617671
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411629
Mirizzi Syndrome
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration ORPHA:521219
Senior-Boichis Syndrome
Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:84081
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Elevat... OMIM:300868
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:617156
Trisomy 18
Omphalocele, Microretrognathia, Camptodactyly of finger, Congenital diaphragmatic hernia, Abnorma... ORPHA:3380
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Radial head s... OMIM:146510
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con... ORPHA:562639
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broad ribs, Myeloid leukem... ORPHA:798
Panhypophysitis
Polydipsia ORPHA:95513
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Erdheim-Chester Disease
Polydipsia, Weight loss ORPHA:35687
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Osteoporosis, Rickets OMIM:212750
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Abnormal ... ORPHA:818
Loeys-Dietz Syndrome 3
Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoar... OMIM:613795
Caroli Syndrome
Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ... ORPHA:480520
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Transient ischemic attack, Osteomalacia, Retinal hemorrhage, Stippled ca... ORPHA:51608
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... OMIM:619727
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Abnormali... ORPHA:261112
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal rib morphology, ... ORPHA:2907
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Elevated hepatic transaminase, Portal hypertension, Rickets, Reduced bo... OMIM:613658
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Elevated circulating alk... ORPHA:275761
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Chondrocalcinosis OMIM:600740
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis, Sinus bradycardia OMIM:619482
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Parathyroid Carcinoma
Polydipsia, Weight loss, Dysphagia ORPHA:143
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs OMIM:300219
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Umbilical hernia, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Fryns Syndrome
Omphalocele, Microretrognathia, Rocker bottom foot, Proximal placement of thumb, Short neck, Shor... OMIM:229850
Brain-Lung-Thyroid Syndrome
Hyperactivity, Abnormal eating behavior, Abnormal drinking behavior, Compulsive behaviors, Failur... ORPHA:209905
Al Amyloidosis
Elevated circulating alkaline phosphatase concentration ORPHA:85443
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Distal Renal Tubular Acidosis
Polydipsia, Failure to thrive ORPHA:18
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... ORPHA:247598
Fetal Akinesia Deformation Sequence 1
Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Short n... OMIM:208150
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polydipsia, Failure to thrive OMIM:602522
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Intermittent jaun... ORPHA:100085
Zttk Syndrome
Aortic regurgitation, Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Hemivertebrae,... OMIM:617140
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive ORPHA:411634
Autosomal Dominant Centronuclear Myopathy
Calf muscle hypertrophy, Abnormality of the foot musculature, Areflexia of lower limbs, Thin ribs ORPHA:169189
Rabson-Mendenhall Syndrome
Polydipsia ORPHA:769
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial... ORPHA:2753
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th ... ORPHA:544488
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Kyphosis, Abnor... ORPHA:1606
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia OMIM:219800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia, Polyphagia ORPHA:293987
Wiedemann-Rautenstrauch Syndrome
Short neck, Micrognathia, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum... OMIM:264090
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-... OMIM:617088
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... OMIM:124000
Wolfram Syndrome
Polydipsia ORPHA:3463
Digeorge Syndrome
Patellar dislocation, Scoliosis, Intervertebral disc degeneration OMIM:188400
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Portal hypertension, Jaundice, ... ORPHA:171
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Syndactyly, Elevated circulating aspartate aminotransferase concentration, Portal hyp... OMIM:619534
Gitelman Syndrome
Failure to thrive, Polydipsia, Salt craving ORPHA:358
Vater/Vacterl Association
Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi... OMIM:192350
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Dysphagia ORPHA:99880
Proximal Renal Tubular Acidosis
Polydipsia, Failure to thrive ORPHA:47159
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... OMIM:600376
Elsahy-Waters Syndrome
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... OMIM:211380
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
Reynolds Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice OMIM:613471
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... ORPHA:100086
Arima Syndrome
Polydipsia OMIM:243910
Restrictive Dermopathy
Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract... ORPHA:1662
Charge Syndrome
Talipes, Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abnormal... ORPHA:138
Craniofacial Microsomia 1
Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, ... OMIM:164210
Pallister-Hall Syndrome
Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Umbilical her... ORPHA:672
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Noncompaction cardiomyopathy, Camptodactyly of finger, Delayed closure of the a... OMIM:607872
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Chondrocalcinosis ORPHA:405
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Transient ischemic attack, Arachnodactyly, Kyphoscoliosis, Sagittal cranios... ORPHA:500150
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... OMIM:118450
Townes-Brocks Syndrome
Broad hallux phalanx, Pes planus, Toe syndactyly, Lower limb asymmetry, Abnormal foot morphology,... ORPHA:857
Autosomal Recessive Polycystic Kidney Disease
Polydipsia ORPHA:731
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Osteomalacia, Hepatitis, Arthritis, Joint swelling OMIM:619381
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, 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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