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Gene: Thbs2 MGI:98738

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Gene Summary

Name:
thrombospondin 2
Synonyms:
TSP2,  Thrombospondin-2,  Thbs-2

Order Alleles

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
abnormal prostate gland morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Thbs2em1(IMPC)Mbp HOM   Early adult 6.74×10-08
abnormal spleen morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
cataract Thbs2em1(IMPC)Mbp HOM   Early adult 6.14×10-08
enlarged prostate gland Thbs2em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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Human diseases caused by Thbs2 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 Thbs2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Scoliosis, Joint stiffness OMIM:166700
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Sterile arthritis, Knee flexion... OMIM:604416
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... OMIM:155100
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... ORPHA:75564
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract OMIM:274205
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab... ORPHA:2790
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnor... ORPHA:86841
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column OMIM:602475
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Increased... OMIM:187900
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... OMIM:136300
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis OMIM:615198
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... ORPHA:324636
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Schnitzler Syndrome
Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Vasculitis, Lymp... ORPHA:37748
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... ORPHA:824
Aplasia Cutis Congenita
Prolonged bleeding time, Facial palsy, Abnormality of bone mineral density ORPHA:1114
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Facial palsy, Splenomegaly,... OMIM:611490
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... ORPHA:232
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Galactosemia Ii
Cataract, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... ORPHA:566943
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg... OMIM:139090
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Facial palsy ORPHA:3416
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Myelodyspla... OMIM:601399
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... OMIM:300718
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Fac... ORPHA:3152
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Dentin Dysplasia
Increased bone mineral density, Exostoses ORPHA:1653
Thrombocythemia 3
Thrombocytosis, Ischemic stroke OMIM:614521
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Facial palsy, Craniosynostosis ORPHA:178377
Essential Thrombocythemia
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, M... ORPHA:3318
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Skin rash, Joint stiffness, Raynaud phenomenon, Pustule, Malar... OMIM:615934
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bethlem Myopathy 2
Scapular winging, Distal joint laxity, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increa... OMIM:616471
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Poems Syndrome
Sclerosis of hand bone, Lymphoproliferative disorder, Sclerosis of foot bone, Abnormality of skin... ORPHA:2905
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Microcytic anemia, Visceral angiomatosis, Cavernous hemangiom... ORPHA:1059
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocar... ORPHA:182050
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... OMIM:618323
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmonella osteomyelitis, Thrombocytosis, Anemia,... OMIM:209950
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Neoplasm, Hypoplasia ... ORPHA:906
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Joint stiffness, Abnormal encho... ORPHA:2635
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Microcytic anemia, Pulmonary embolism, Cong... ORPHA:90308
Melorheostosis
Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis... ORPHA:2485
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical... ORPHA:1802
Familial Thrombocytosis
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Pruritus, S... ORPHA:71493
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Arrhythmia, Camptodactyly OMIM:618453
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Thrombocythemia 2
Thrombocytosis OMIM:601977
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Visceral angi... ORPHA:628
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Hypertension, Coombs-positive... OMIM:614034
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral... OMIM:271530
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Hematological neoplasm, Neuroblastoma, Impaired plate... OMIM:173420
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Multiple lipomas, H... OMIM:176920
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Lymphoma, Osteoporosis, Rickets, Iron deficiency anemia, Prolonged pro... OMIM:212750
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis... ORPHA:77259
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia... ORPHA:3260
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia OMIM:613730
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Pancytope... OMIM:259700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ... ORPHA:40
Morm Syndrome
Micropenis, Cataract, Retinal atrophy ORPHA:75858
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Kyphosis, Flexion contracture, Cardiomyopathy, Prolonged prothrombin ti... OMIM:212065
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Pericarditis, Myositis, S... ORPHA:809
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den... ORPHA:970
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis OMIM:277950
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General... OMIM:166600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness OMIM:617087
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Short neck, Spinal rigidity, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Congen... ORPHA:77297
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Abnormalit... OMIM:612840
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... OMIM:607634
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Kyphosis, Knee... OMIM:313420
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Lymphoproliferative disorder, Eczema, Portal hypertension, Skin rash, Raynaud pheno... OMIM:615688
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification... ORPHA:163649
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcin... ORPHA:902
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost... OMIM:614856
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Osteoporosis, Myopathy, Scoli... OMIM:618234
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Congenital hepatic fibrosis, Chronic kidney diseas... ORPHA:3156
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism ORPHA:1381
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky... OMIM:130060
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... ORPHA:98863
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Prolonged bleeding time, Recurrent fractures, Decreased calvarial ossification, Platy... OMIM:616229
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98853
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint ... ORPHA:1901
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Kyphosis, Abnormality ... ORPHA:2114
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Skeletal muscle atrophy, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Fractu... OMIM:112250
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Bruck Syndrome 1
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... OMIM:259450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Myelodysplasia, Short neck, Congenital hypoplastic anemia,... OMIM:105650
Pyle Disease
Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Thin bony cortex OMIM:265900
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... ORPHA:1473
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Laurence-Moon Syndrome
Hypoplasia of penis, Cataract, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, ... ORPHA:2377
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... OMIM:619040
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness of facial musculature, Kypho... OMIM:618484
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Dysostosis, Stanescu Type
Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis, Mas... ORPHA:1798
Zimmermann-Laband Syndrome 3
Kyphosis, Patent ductus arteriosus, Flexion contracture OMIM:618658
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Hypertrophic cardiomyopathy, Flexion contracture, Myopathy OMIM:618237
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, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ... OMIM:603552
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Prolonged prothrombin time, Hyp... ORPHA:20
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis, Anemia OMIM:226300
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteo... ORPHA:53
Immunodeficiency 92
Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop... OMIM:619652
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis OMIM:617404
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Exostoses of th... ORPHA:85188
Diamond-Blackfan Anemia
Acute myeloid leukemia, Abnormality of the thenar eminence, Pure red cell aplasia, Short neck, My... ORPHA:124
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density OMIM:618392
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Facial palsy, Hyperlordosis, Aortic valve stenosis, Osteopetrosis... ORPHA:2780
Gorham-Stout Disease
Osteopenia, Torticollis, Osteomyelitis, Hemangiomatosis, Osteolysis involving bones of the upper ... ORPHA:73
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Eczema, Facial myokymia OMIM:620007
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma ORPHA:363741
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis ORPHA:1423
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... OMIM:144750
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Macs Syndrome
Joint laxity, Prolonged bleeding time, Osteoporosis, Scoliosis, Bruising susceptibility, Joint hy... OMIM:613075
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Rhabdomyolysis, Hypertension,... ORPHA:94093
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Dentinogenesis Imperfecta
Prolonged bleeding time, Finger joint hypermobility, Hyperextensibility at elbow, Knee joint hype... ORPHA:49042
Axial Osteomalacia
Myopathy, Increased bone mineral density, Osteomalacia OMIM:109130
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... ORPHA:1782
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Osteoporosis, Scoliosis, Abnormality of ... ORPHA:48431
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Kyphosis, Facial diplegia, Scoliosis, Arthrogryposis multipl... OMIM:611890
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Anemia ORPHA:2598
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Autism Spectrum Disorder Due To Auts2 Deficiency
Eczema, Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrog... ORPHA:352490
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Prolonged bleeding time, Absent microvilli on th... OMIM:301000
Pycnodysostosis
Joint laxity, Increased bone mineral density, Hyperlordosis, Generalized osteosclerosis, Kyphosis... ORPHA:763
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hyperflexibility, Congenital muscular dystrophy, Kyphosis ORPHA:1875
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma ORPHA:231736
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont... OMIM:156530
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... ORPHA:1310
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation... ORPHA:2796
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal ... ORPHA:1486
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Pruritus, Abnormal sacroiliac joint morp... ORPHA:324964
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosis ORPHA:3454
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund... ORPHA:290
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... OMIM:607155
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Myelodysplasia, Decreased mean platelet volume, Acute... OMIM:185050
Sandhoff Disease
Splenomegaly, Kyphosis, Congestive heart failure ORPHA:796
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Wrist flexion contracture, Increased bone mineral density, A... ORPHA:800
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hypertension, Hypotension ORPHA:134
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, ... OMIM:608233
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Sialidosis Type 2
Skeletal muscle atrophy, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis ORPHA:87876
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Facial palsy, Thrombo... OMIM:259720
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Cataract, Hypogonadism, Retinal coloboma OMIM:601794
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Autoimmune Hypoparathyroidism
Prolonged QT interval, Increased bone mineral density, Chronic mucocutaneous candidiasis, Abnorma... ORPHA:36913
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Distal join... OMIM:254090
Weismann-Netter Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortical bone morphology, An... ORPHA:3344
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Brucellosis
Pericarditis, Osteomyelitis, Thrombocytosis, Transient ischemic attack, Hypersplenism, Thrombocyt... ORPHA:1304
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... ORPHA:33364
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... ORPHA:2771
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... OMIM:224300
Camurati-Engelmann Disease
Skeletal muscle atrophy, Increased bone mineral density, Diaphyseal sclerosis, Cortical thickenin... OMIM:131300
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Neuraminidase Deficiency
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro... OMIM:256550
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Tricuspid regurgitation, Scapular winging, Spinal rigidity, ... OMIM:620351
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Limited elbow movement, Kyphoscoliosis, Kyphosis, Skeletal muscle h... OMIM:300280
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Syndromic Diarrhea
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Hyp... ORPHA:84064
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex ORPHA:85184
Galactokinase Deficiency
Hepatomegaly, Cataract, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Nuclear cataract, Inc... ORPHA:79237
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Neoplasm, Macular purpura,... ORPHA:49566
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Gingival bleeding, Ecchymosis, ... OMIM:203300
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Arthrogryposis, Distal, Type 4
Osteopenia, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal arthrogryposis, Lumba... OMIM:609128
Frank-Ter Haar Syndrome
Acne, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Beaking of verte... ORPHA:137834
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Limb-gir... ORPHA:171436
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, ... OMIM:615084
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Kyphosis, Osteoporosis OMIM:239000
Crisponi Syndrome
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Limitation of joint... ORPHA:1545
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro... OMIM:222300
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Hall-Riggs Syndrome
Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis OMIM:234250
Cranio-Osteoarthropathy
Eczema, Joint stiffness, Osteoarthritis, Arthritis, Abnormal cortical bone morphology ORPHA:1525
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Autosomal Recessive Spastic Paraplegia Type 53
Joint hyperflexibility, Kyphosis, Upper limb hypertonia ORPHA:319199
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... OMIM:618291
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Eiken Syndrome
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi... ORPHA:79106
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae OMIM:230650
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis OMIM:301900
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Skin rash, Perianal abscess, Arthritis, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Re... OMIM:301074
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Aortic regurgitation, Epistaxi... ORPHA:99147
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... OMIM:214110
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Splenomegaly, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspond... OMIM:230600
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific... ORPHA:93314
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... OMIM:619795
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Eczema, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neut... OMIM:169400
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Increased mean platelet volume, Splenomegaly, Pulmonic stenosis, Thrombocyt... OMIM:222470
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Increased bone mineral density, Short neck, Diaphyseal scleros... ORPHA:94089
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm... ORPHA:2969
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Gaucher Disease
Abnormal bleeding, Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur... ORPHA:355
Intellectual Developmental Disorder, Autosomal Dominant 26
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis OMIM:615834
Alpha-Mannosidosis
Craniofacial hyperostosis, Short neck, Kyphosis, Splenomegaly, Arthritis, Macroglossia, Scoliosis... ORPHA:61
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis ORPHA:276630
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... OMIM:618476
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Dilated cardiomyopathy, Ragged-red mus... ORPHA:352447
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density ORPHA:2617
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Hypertension, Neoplasm, Bruising sus... OMIM:219080
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Limited wrist extension, Kyphosis, Distal arthrogryposis, Firm muscles, Sc... OMIM:108145
Mucolipidosis Iii Gamma
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis, Aortic val... OMIM:252605
Cdkl5-Deficiency Disorder
Kyphosis, Scoliosis ORPHA:505652
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Patent ductus arteriosus, Kyphosis, Scoliosis OMIM:619797
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Spastic Paraplegia 53, Autosomal Recessive
Joint hyperflexibility, Lower limb hypertonia, Kyphosis, Upper limb hypertonia OMIM:614898
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Osteopoikilosis, Scoliosis, Skeletal muscle atrophy ORPHA:94063
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Reduced bone mineral density, Neoplasm of the br... ORPHA:79474
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,... OMIM:208540
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Facial palsy, Kyphosis, Cranial hyperostosis, Limitation of joint... ORPHA:2658
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Increased bone mineral density, Short neck, Reduced bone miner... ORPHA:79443
Desmosterolosis
Patent ductus arteriosus, Splenomegaly, Increased bone mineral density, Osteopetrosis ORPHA:35107
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Flynn-Aird Syndrome
Skeletal muscle atrophy, Joint stiffness, Kyphosis, Bone cyst, Scoliosis ORPHA:2047
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis, Flexion contrac... ORPHA:3409
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis, Osteosarcoma OMIM:167250
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Facial palsy, Osteopetrosis ORPHA:1522
Cold Agglutinin Disease
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:1548
Leukocyte Adhesion Deficiency
Abnormal bleeding, Acute myeloid leukemia, Chronic oral candidiasis, Osteomyelitis, Recurrent ski... ORPHA:2968
Pycnodysostosis
Increased bone mineral density, Spondylolysis, Osteolytic defects of the distal phalanges of the ... OMIM:265800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Weismann-Netter Syndrome
Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... ORPHA:335
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr... OMIM:259420
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Nephropathy OMIM:247410
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Desmosterolosis
Generalized osteosclerosis, Patent ductus arteriosus, Gingival fibromatosis, Arthrogryposis multi... OMIM:602398
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Thoracic kyphosis, Thin bony cortex OMIM:619638
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... OMIM:314580
Rhizomelic Syndrome, Urbach Type
Acne, Short neck, Kyphosis, Limitation of joint mobility, Abnormal form of the vertebral bodies, ... ORPHA:3098
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia of the skin, Kyphosis, Osteoporosis, Scoliosis, Joint contracture OMIM:615381
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Scoliosis ORPHA:99014
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Foot dorsiflexor weakness, Scoliosis OMIM:618124
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contractur... OMIM:248800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossification, Generalized joint laxity... ORPHA:93360
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Limb muscle weakness, Lower limb muscle weakness, Scoliosis OMIM:614409
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac... OMIM:301041
Emanuel Syndrome
Chronic oral candidiasis, Sacral dimple, Torticollis, Truncus arteriosus, Congenital diaphragmati... OMIM:609029
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Scoliosis, Carpal syn... ORPHA:90652
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Subaortic Stenosis-Short Stature Syndrome
Acne, Short neck, Kyphosis, Scoliosis, Arrhythmia, Synostosis of carpal bones ORPHA:3191
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Mcdonough Syndrome
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Atopic dermatitis, Osteopetrosis, Thrombocytopenia ORPHA:3240
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Testicular neoplasm, Fibrous dysplasia of ... ORPHA:249
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Nephrocalcinosis, Cataract OMIM:146200
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Osteoporosis, Hypertension, Biconcave verte... OMIM:219090
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence o... OMIM:120330
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Gm1 Gangliosidosis
Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Splenomegaly, Patent ductus ar... ORPHA:354
Interstitial Lung And Liver Disease
Thrombocytosis, Anemia OMIM:615486
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cataract, Asplenia, Keratoconj... OMIM:240300
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Skin rash, Congestive heart failure, Osteolysis, A... ORPHA:35687
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Joint stiffness, Thenar muscle atrophy, Contractur... OMIM:607015
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:816
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:615547
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Optic nerve hypoplasia, Cryptorchidism, Microcornea, Micro... OMIM:610125
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Thanatophoric Dysplasia
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteriosus, Joint ... ORPHA:2655
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopen... ORPHA:91547
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec... ORPHA:94068
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... OMIM:277450
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... OMIM:259775
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma OMIM:212550
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Biconcave vertebral bodies, Vertebral compre... OMIM:617952
Melnick-Needles Syndrome
Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hyperflexibilit... ORPHA:2484
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Joint hyperflexibility, Kyphosis, Scoliosis ORPHA:2181
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia OMIM:618213
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Mucopolysaccharidosis, Type Iva
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, F... ORPHA:367
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Increased bone mineral density, Short neck, Ectopic ossification ORPHA:79444
Shashi-Pena Syndrome
Kyphosis, Patent ductus arteriosus, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion, Lim... OMIM:617190
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... OMIM:203780
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... ORPHA:1655
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Doors Syndrome
Sagittal craniosynostosis, Hemivertebrae, Lumbar scoliosis, Capillary hemangioma, Thrombocytosis,... ORPHA:79500
Desbuquois Dysplasia 1
Joint laxity, Short neck, Hyperlordosis, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific... OMIM:251450
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl... OMIM:313400
Pseudoachondroplasia
Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, De... OMIM:177170
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis, Cardiomyopathy ORPHA:79327
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Sacral dimple, Recurrent fractures, Camptodactyly of f... ORPHA:3206
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Abnormality of the musculature of the lower limbs, Scoliosis ORPHA:464282
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Craniosynostosis, Short neck, Kyphosis, Mitral regurgitation, Scoliosis, Ar... ORPHA:254346
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Classical Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Orthostatic hypotension, Osteoarthritis, Generalized joint l... ORPHA:287
Thanatophoric Dysplasia Type 2
Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Joint hyperflexibility, Platysp... ORPHA:93274
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck OMIM:616455
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Joint stiffness, Kyphosis, P... ORPHA:392
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,... OMIM:607326
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex ORPHA:75508
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, EM... ORPHA:99901
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... ORPHA:666
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... ORPHA:464329
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Joint stiffness, Hypop... OMIM:253220
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia of the odontoid ... OMIM:253010
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis OMIM:609541
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Developmental glaucoma, Hepati... OMIM:610199
Hurler Syndrome
Aortic regurgitation, Short neck, Joint stiffness, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:607014
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Gm1-Gangliosidosis, Type I
Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Dilated cardiomyopat... OMIM:230500
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Kyphoscolios... OMIM:309583
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology ORPHA:2522
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:128100
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Patent ductus arteriosus, Spinal canal stenosis, Mitral re... OMIM:277600
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Abnormal cortical bone morphology OMIM:614886
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Cleidocranial Dysplasia 1
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... OMIM:119600
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Patent ductus arteriosus, Sclerosi... OMIM:130720
Mgat2-Cdg
Abnormal bleeding, Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Kyphos... ORPHA:79329
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Becker Nevus Syndrome
Hamartoma, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle muscle atrophy ORPHA:64755
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Distal Triplication 15Q
Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contracture, Scoliosis, Camptodacty... ORPHA:314588
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Joint stiffness, Congestive heart failure, Patent ductus arteriosus, Elbow ... OMIM:608328
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck, Reduced bone mineral density ORPHA:2983
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, I... OMIM:259900
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility OMIM:610475
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Kyphosis, Macroglossia, Distal lower limb amyotrophy OMIM:300354
Williams Syndrome
Osteopenia, Myocardial infarction, Abnormal form of the vertebral bodies, Vertebral segmentation ... ORPHA:904
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Distal lower limb muscle weakness, Craniosynostosis, Limited... ORPHA:508533
Sanjad-Sakati Syndrome
Myopathy, Spinal canal stenosis, Patchy osteosclerosis ORPHA:2323
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Mitral regurgita... OMIM:603387
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Kyphosis, Radioulnar synostosis, Congenital contracture, Scoli... OMIM:248700
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Camptodactyly of finger, Joint hypermobility, Myelodysplasia, Kyphosis, Scoliosis, Leukemia, Bico... OMIM:619951
Lopes-Maciel-Rodan Syndrome
Kyphosis, Scoliosis OMIM:617435
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis OMIM:618541
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... ORPHA:2311
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to... ORPHA:2769
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, R... ORPHA:1855
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis... OMIM:269200
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Diaphragmatic eventration, Multiple joint contractures,... OMIM:265000
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Congestive heart failure, Flexion contracture, Leukopenia, Prolonged prothromb... OMIM:616271
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Generalized joint laxity, Decreased calvarial ossif... OMIM:613848
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, Decreased ... OMIM:143095
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Scoliosis, Morbus Scheuerman... OMIM:108300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture... OMIM:618223
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral density, Joint h... ORPHA:582
Sialidosis Type 1
Skeletal muscle atrophy, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Noonan Syndrome 14
Aortic regurgitation, Lymphopenia, Scapular winging, Short neck, Kyphosis, Pulmonic stenosis, Hyp... OMIM:619745
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... ORPHA:89936
Clark-Baraitser syndrome
Joint laxity, Kyphosis, Scoliosis OMIM:300602
Ruvalcaba Syndrome
Kyphosis, Limited elbow extension, Scoliosis OMIM:180870
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal a... OMIM:617913
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Baralle-Macken Syndrome
Kyphosis OMIM:619255
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... OMIM:616294
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... ORPHA:2916
Fountain Syndrome
Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi... ORPHA:3219
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Lumbar hyperlordosis, Short neck, Multicentric ossification of proxi... OMIM:223800
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Conjunctiva... ORPHA:201
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased c... OMIM:610915
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Oculodentodigital Dysplasia
Camptodactyly of finger, Cranial hyperostosis, Abnormal form of the vertebral bodies, Hyperostosi... ORPHA:2710
Frank-Ter Haar Syndrome
Osteopenia, Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosi... OMIM:249420
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Kyphosis, Patent ductus arteriosus, Scoliosis OMIM:617061
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Nephroblastoma OMIM:618272
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
15Q24 Microdeletion Syndrome
Joint laxity, Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:94065
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:277440
Spondyloarthropathy, Susceptibility To, 1
Back pain, Aortic regurgitation, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, S... OMIM:106300
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Diastasis rect... ORPHA:576
Trisomy 13
Kyphosis, Patent ductus arteriosus, Capillary hemangioma, Scoliosis ORPHA:3378
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones, Anemia OMIM:127000
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Facial hypotonia, Kyphosis, Scoliosis, Abnormality of muscle size ORPHA:364028
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Tachycardia, Congenital diaphragmatic hernia, Patent d... OMIM:618280
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... OMIM:166220
Achondroplasia
Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Spinal canal stenosis, Thoracolumbar kyp... ORPHA:15
Trisomy 20P
Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Reduced bon... ORPHA:261318
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Limb hypertonia ORPHA:500180
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Osteopor... ORPHA:97685
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
4Q21 Microdeletion Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:238750
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Eczema, Kyphosis, Patent ductus arteriosus, Hypotrophy of the sm... OMIM:610443
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Macular degeneration, Vesicoureteral reflux, Lympha... ORPHA:1571
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Hyperextensibility of the finger joints, Kyphosis, Pulmonic stenosis, Scoli... OMIM:609008
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... OMIM:203500
Marburg Hemorrhagic Fever
Back pain, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Re... ORPHA:99826
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints, Platyspondyly ORPHA:50945
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Patent ductus arteriosus, Limb hypertonia OMIM:619909
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Joint hyperfle... ORPHA:2616
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis, Hypertension, Bruising susceptibility OMIM:610489
Classic Homocystinuria
Gastrointestinal hemorrhage, Recurrent fractures, Joint stiffness, Pulmonary embolism, Kyphosis, ... ORPHA:394
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Cockayne Syndrome Type 2
Kyphosis, Flexion contracture, Scoliosis, Limb hypertonia ORPHA:90322
Hellp Syndrome
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorr... ORPHA:244242
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Splenomegaly, Flexion contracture, Congestive heart failure, Hepatosplenome... OMIM:309900
Atypical Rett Syndrome
Kyphosis, Scoliosis ORPHA:3095
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... OMIM:612109
Cowden Syndrome 1
Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartoma... OMIM:158350
Primary Hyperoxaluria
Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, Arterial occlus... ORPHA:416
Dent Disease 1
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte... ORPHA:3042
Atelis Syndrome 2
Sacral dimple, Kyphosis, Patent ductus arteriosus, Supravalvar pulmonary stenosis, Anemia, Vitreo... OMIM:620185
Thanatophoric Dysplasia Type 1
Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platys... ORPHA:1860
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... OMIM:106210
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Kyphosis, Spleno... OMIM:615512
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Kyphosis, Capi... ORPHA:2215
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Kyphosis, Splenomegaly, Craniofacial osteos... ORPHA:1328
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... OMIM:177850
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal... ORPHA:2062
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Hepatic hemang... ORPHA:2330
Rett Syndrome
Skeletal muscle atrophy, Kyphosis, Scoliosis, Abnormal T-wave, Prolonged QTc interval OMIM:312750
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Microcytic anemia ORPHA:324737
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Alg12-Cdg
Patent ductus arteriosus, Prolonged prothrombin time, Camptodactyly, B lymphocytopenia, Scoliosis... ORPHA:79324
Abetalipoproteinemia
Abnormal bleeding, Osteopenia, Reticulocytosis, Kyphoscoliosis, Acanthocytosis, Congestive heart ... ORPHA:14
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Kyphosis, Short neck OMIM:608776
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Sclerosteosis 1
Facial palsy, Sclerotic scapulae, Facial palsy secondary to cranial hyperostosis, Sclerotic verte... OMIM:269500
3C Syndrome
Short neck, Kyphosis, Hemivertebrae, Pulmonic stenosis, Scoliosis, Aortic valve stenosis, Facial ... ORPHA:7
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... ORPHA:2789
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Joint stiffness, Splenomegaly, Kyphosis, Macroglossia ORPHA:583
Hajdu-Cheney Syndrome
Osteopenia, Mitral stenosis, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, K... ORPHA:955
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Scoliosis, Bruising susceptibil... OMIM:617821
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Craniosynostosis, Kyphosis, Hypertensi... OMIM:616914
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Alexander Disease
Osteopenia, Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Hypertension... ORPHA:58
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Synostosis of carpal bones ORPHA:3121
Weaver Syndrome
Diastasis recti, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly, Limited knee exten... OMIM:277590
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Congestive heart failure, Platyspondyly, Uterine leiomyoma, Pulmo... OMIM:616482
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Kyphosis, Scoliosis ORPHA:79107
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Facial hypotonia, Splenomegaly, Achilles tendon contracture, Reduced bone... ORPHA:404454
Marshall-Smith Syndrome
Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu... OMIM:602535
Sialuria
Neuropathic spinal arthropathy, Prolonged prothrombin time, Joint hypermobility, Hepatosplenomegaly ORPHA:3166
Cowden Syndrome 6
Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Meningioma, Scol... OMIM:615109
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Scoliosis, Finger joint hypermobility OMIM:618493
Alstrom Syndrome
Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hyperostosis frontalis ... OMIM:203800
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Joint hyperflexibility, Kyphosis, Scoliosis ORPHA:2479
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... OMIM:273395
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Skin rash, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrom... OMIM:603553
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Splenopancreatic fusion, Ma... OMIM:269150
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodi... ORPHA:192
15Q14 Microdeletion Syndrome
Kyphosis, Acne, Scoliosis ORPHA:261190
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... ORPHA:649
16Q24.3 Microdeletion Syndrome
Kyphosis, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Scolio... ORPHA:261250
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Osteopetrosis,... ORPHA:667
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Eczema, Short neck, Kyphosis, Prominent protruding coccyx, Prominent c... OMIM:300966
Infantile Liver Failure Syndrome 3
Splenomegaly, Hypoplastic vertebral bodies, Prolonged prothrombin time, Platyspondyly, Beaking of... OMIM:618641
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis, Short neck OMIM:616559
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Thrombocytopenia, Leukopenia, Elliptocytosis, Osteopetrosis, P... ORPHA:2785
Cowden Syndrome 5
Kyphosis, Breast carcinoma, Hamartomatous polyposis, Meningioma, Scoliosis, Thyroid adenoma, Subc... OMIM:615108
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis, Rickets ORPHA:79303
Yellow Fever
Abnormal bleeding, Low back pain, Shock, Neutrophilia, Skin rash, Supraventricular arrhythmia, Ex... ORPHA:99829
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy ORPHA:88644
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Pruritus, Spl... ORPHA:171
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis OMIM:619718
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time, Skeletal muscle atrophy ORPHA:95428
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis OMIM:211530
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyphosis, Medu... ORPHA:77301
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Scoliosis ORPHA:261144
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Medullary thyroid c... OMIM:162300
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Short neck, Kyphosis, Joint hyperflexibility, Scoliosis ORPHA:85293
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Jaberi-Elahi Syndrome
Kyphosis, Scoliosis, Joint hypermobility, Joint stiffness OMIM:617988
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Camptodactyly of finger, Facial palsy, Kyphosis, Mitral regurgitation, Scol... ORPHA:261349
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Joint hypermobility OMIM:617602
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Prolonged prothrombin time, Pulmonic stenosis OMIM:614300
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Scoliosis ORPHA:398069
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis, Joint stiffness ORPHA:702
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Tricuspid regurgitation, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis... OMIM:616894
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Joint stiffness, Kyphosis, Vertebral segmentation defect, Scoliosis, Synostosis of carpal bones ORPHA:1005
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Eczema, Kyphosis, Patent ductus arteriosus, Sc... ORPHA:464306
Occipital Horn Syndrome
Joint laxity, Orthostatic hypotension, Pelvic bone exostoses, Capitate-hamate fusion, Kyphosis, O... OMIM:304150
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt... OMIM:301040
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Prolonged prothrombin ... OMIM:614921
Cole-Carpenter Syndrome
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco... ORPHA:2050
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Scoliosis, Tracheo... ORPHA:140
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ankle flexion contracture, Kyphosis, Patent ductus arteriosus, Scoliosis, A... ORPHA:464311
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Joint hyperflexibility, Vertebral segmentation defect, Scoliosis ORPHA:96169
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Flexion contracture, Scoliosis ORPHA:500055
Infantile Liver Failure Syndrome 2
Cardiomyopathy, Prolonged prothrombin time OMIM:616483
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Prolonged prothrombin time, Muscular dystrophy ORPHA:88618
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Pulmonic stenosis, Camptodactyly OMIM:619123
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Hand muscle atrophy, Sacral dimple, Eczema, Craniosynostosis, Hyperlordosis, Testic... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Hand muscle atrophy, Sacral dimple, Eczema, Craniosynostosis, Hyperlordosis, Testic... ORPHA:363958
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Portal hypertension, Rickets, Reduced bone mineral densit... OMIM:613658
Harrod Syndrome
Joint hyperflexibility, Kyphosis, Scoliosis ORPHA:2115
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia OMIM:612301
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Retinal hamartoma, Kyphosis, Aplasia of the pectoral... ORPHA:2911
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Ost... ORPHA:2232
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Bruising susceptibility,... ORPHA:536532
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia OMIM:267700
Prader-Willi Syndrome
Osteopenia, Decreased muscle mass, Kyphosis, Osteoporosis, Scoliosis OMIM:176270
Neurofibromatosis Type 1
Astrocytoma, Recurrent fractures, Joint stiffness, Kyphosis, Chronic myelogenous leukemia, Hypert... ORPHA:636
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Pulmonary arterial hypertension, Scoliosis OMIM:616449
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Pl... ORPHA:198
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Fucosidosis
Kyphosis, Decreased muscle mass, Anterior beaking of lumbar vertebrae ORPHA:349
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Proteus Syndrome
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal form of the vertebral... ORPHA:744
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly, Limit... OMIM:271700
Genitopalatocardiac Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:2075
Aspartylglucosaminuria
Joint stiffness, Splenomegaly, Arthritis, Macroglossia, Anterior beaking of lumbar vertebrae, Sco... ORPHA:93
Aspartylglucosaminuria
Joint laxity, Acne, Kyphosis, Vacuolated lymphocytes, Macroglossia, Platyspondyly, Mitral regurgi... OMIM:208400
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Dilated cardiomyopathy, Hepatic necrosis, Prolonged prothrombin time, Hype... ORPHA:71212
Distal 16P11.2 Microdeletion Syndrome
Kyphosis ORPHA:261222
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the... ORPHA:2461
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Kyphosis, Limb hypertonia, Contractures of the large joints ORPHA:521426
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... OMIM:300166
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatic necrosis, Hepatocellula... ORPHA:90062
Micro Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:2510
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Scoliosis, Pulmonary arterial hypertension, Contracture of the proximal interphalangeal... ORPHA:464738
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Kyphosis, Hypomimic face OMIM:617527
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Decreased heart rate variability, Kyphosis, Scoliosis, Thromb... OMIM:619005
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Camptodactyly ORPHA:3063
Zttk Syndrome
Aortic regurgitation, Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contracture, ... OMIM:617140
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... OMIM:619194
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Limited elbow movement, Kyphosis, Cong... ORPHA:558
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Kyphosis, Splenomegaly, Flexion contracture, Subdural hemorrhage, Retina... ORPHA:90324
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis ORPHA:96168
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:251014
Spondyloocular Syndrome
Osteopenia, Vertebral compression fracture, Platyspondyly, Thin bony cortex OMIM:605822
Wolf-Hirschhorn Syndrome
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Osteoporosis, Abnormal form of the vert... ORPHA:280
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Cdags Syndrome
Kyphosis, Coronal craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis OMIM:603116
Cohen Syndrome
Joint hyperflexibility, Kyphosis, Scoliosis, Neutropenia ORPHA:193
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time, Scoliosis OMIM:619055
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Lymphopenia, Knee flexion contracture OMIM:619708
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Kyphosis, Patent duc... OMIM:300967
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Portal hypertension, Splenomegaly, Prolonged prothrombin time, Hypertrophic cardiomyopathy, Polyc... ORPHA:309854
Neuroocular Syndrome
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... OMIM:619539
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Hypophosphatemic r... OMIM:276700
Stickler Syndrome
Skeletal muscle atrophy, Kyphosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the ve... ORPHA:828
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Recurrent fractures, Osteomalacia, Joint stiffness... ORPHA:534
Lymphedema-Distichiasis Syndrome
Kyphosis, Patent ductus arteriosus, Arrhythmia OMIM:153400
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Cockayne Syndrome A
Hip contracture, Splenomegaly, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the pha... OMIM:216400
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Pituitary adenoma OMIM:300942
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Kyphosis, Rickets, Platyspondyly, Scoliosis, Pathologic fr... OMIM:309000
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Sclerosis of skull base, Platyspondyly, Thin bony cortex OMIM:619727
Liver Failure, Infantile, Transient
Prolonged prothrombin time OMIM:613070
Cockayne Syndrome
Skeletal muscle atrophy, Kyphosis, Splenomegaly, Retinal hemorrhage, Contractures of the large jo... ORPHA:191
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Prolonged prothrombin time, Blee... OMIM:619525
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... ORPHA:1507
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Coronal craniosynostosis, Eczema, Tarsal synostosis ORPHA:85199
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:476126
1P36 Deletion Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, Patent ductus arte... ORPHA:1606
Cockayne Syndrome B
Splenomegaly, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalan... OMIM:133540
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Acromegaly
Acne, Kyphosis, Osteoarthritis, Spinal canal stenosis, Hypertension, Mitral regurgitation, Macrog... ORPHA:963
Cono-Spondylar Dysplasia
Kyphosis, Scoliosis, Short neck ORPHA:420794
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Joint laxity, Back pain, Aortic regurgitation, Osteomyelitis, Torticollis, Kyphosis, Congestive h... OMIM:619475
Faciocardiomelic Syndrome
Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex OMIM:612731
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Short neck, Facial capillary hemangioma, Kyphosis, Patent ductus... ORPHA:818
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Limitation of joi... ORPHA:457359
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Prolonged prothrombin time OMIM:618329
Sotos Syndrome
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Astrocytoma, Ankle flexion contracture, C... ORPHA:821
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Decreased muscle mass, Kyphosis, Abnormal form... OMIM:194190
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:1969
Rett Syndrome, Congenital Variant
Kyphosis, Scoliosis OMIM:613454
Somatomammotropinoma
Kyphosis, Osteoarthritis, Pituitary adenoma, Spinal canal stenosis, Hypertension, Mitral regurgit... ORPHA:314769
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Prolonged QT interval, Myocardial infarction, Short neck, Kyphosis, Osteoporosis, Red... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Prolonged QT interval, Myocardial infarction, Short neck, Kyphosis, Osteoporosis, Red... ORPHA:99228
Monosomy X
Osteopenia, Prolonged QT interval, Myocardial infarction, Short neck, Kyphosis, Osteoporosis, Red... ORPHA:99226
Turner Syndrome
Osteopenia, Prolonged QT interval, Myocardial infarction, Short neck, Kyphosis, Osteoporosis, Red... ORPHA:881
Viss Syndrome
Joint laxity, Exostosis of the external auditory canal, Epidural hemorrhage, Eczema, Kyphosis, Ge... OMIM:619472
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Ramon Syndrome
Kyphosis, Gingival fibromatosis, Telangiectasia, Scoliosis, Juvenile rheumatoid arthritis OMIM:266270
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness ORPHA:171629
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Joint hypermobility, Kyphosis, Flexion contracture, Ost... OMIM:259050
Mend Syndrome
Kyphosis, Sacral dimple, Aortic valve stenosis, Limb hypertonia ORPHA:401973
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Prolonged prothrombin time, A... ORPHA:247598
Wrinkly Skin Syndrome
Osteopenia, Scapular winging, Hypoplasia of the musculature, Kyphosis, Scoliosis, Joint hypermobi... OMIM:278250
Coffin-Siris Syndrome 1
Joint laxity, Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Patent ductus arteriosus,... OMIM:135900
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Sacral dimple, Kyphosis, Scoliosis, Aortic valve stenosis ORPHA:268261
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Eczema, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Ab... ORPHA:2273
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Iris coloboma, Anterior pituitary agenesis OMIM:157170
Mend Syndrome
Kyphosis, Sacral dimple, Aortic valve stenosis OMIM:300960
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis, Sinus bradycardia OMIM:619482
Spondyloepimetaphyseal Dysplasia, X-Linked
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgin... OMIM:300106
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Kyphosis, Lumbar kyphosis, Mitral regurgitation, Scoliosis OMIM:303600
Cerebrocostomandibular Syndrome
Tracheomalacia, Kyphosis ORPHA:1393
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ea... OMIM:113620
Yunis-Varon Syndrome
Absent sternal ossification, Anterior concavity of thoracic vertebrae, Kyphosis, Heart murmur, Ca... OMIM:216340
Alström Syndrome
Thoracic scoliosis, Portal hypertension, Kyphosis, Splenomegaly, Congestive heart failure, Dilate... ORPHA:64

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.

There is no histopathology data for Thbs2

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 Thbs2.

No publications found that use IMPC mice or data for Thbs2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Thbs2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Thbs2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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