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Gene: Thbs2 MGI:98738

Gene Summary

Name:

thrombospondin 2

Synonyms:

TSP2, Thrombospondin-2, Thbs-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
enlarged prostate gland	Thbs2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal prostate gland morphology	Thbs2^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Thbs2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Thbs2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Thbs2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Thbs2^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Thbs2^em1(IMPC)Mbp	HOM	Early adult	7.52×10^-05
abnormal skin morphology	Thbs2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Thbs2^em1(IMPC)Mbp	HOM	Early adult	7.12×10^-05

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 Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 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.

Human diseases associated with Thbs2 (0 diseases)
Human diseases predicted to be associated with Thbs2 (865 diseases)

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	Matching phenotypes	Source
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Scoliosis, Flexion contracture	OMIM:166700
Osteomesopyknosis	Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie...	ORPHA:2777
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Excessiv...	OMIM:273800
Glanzmann Thrombasthenia 2	Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D...	OMIM:619267
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism	OMIM:274205
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Transient ischemic attack, Leukocytosis, Abnormality of thromb...	ORPHA:3318
Bernard-Soulier Syndrome	Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Giant platelets, Gingival bleeding, Meno...	OMIM:231200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Knee flexion contracture, Pancytopenia, Arthritis, Elbow flexion contracture, Sterile arthritis, ...	OMIM:604416
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Neutrophil inclusion bodies, Impaired epinephrine-induced platelet aggregation...	OMIM:155100
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Normochro...	ORPHA:75564
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h...	ORPHA:2790
Glanzmann Thrombasthenia	Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi...	ORPHA:849
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract, Hepatomegaly	ORPHA:79281
Bleeding Disorder, Platelet-Type, 11	Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Ecchymosis,...	OMIM:614201
Bleeding Disorder, Platelet-Type, 18	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men...	OMIM:615888
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem...	OMIM:263300
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal bleeding, Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neut...	ORPHA:86841
Melorheostosis With Osteopoikilosis	Multiple lipomas, Hypertension, Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis, Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:611225
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column	OMIM:602475
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Flynn-Aird Syndrome	Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Increased bone den...	OMIM:136300
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Sclerotic vertebral endplates	OMIM:615198
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Osteomesopyknosis	Increased bone mineral density, Low back pain	OMIM:166450
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb muscle weakness, Distal amyotrophy, Elbow flexion contracture, Hyperlordosis, S...	OMIM:600175
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:618963
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Thrombocytosis, Impaired platelet adhesion, Intramuscular hematoma, ...	ORPHA:324636
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epis...	OMIM:314050
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Hypertension, Gingi...	ORPHA:729
Primary Myelofibrosis	Abnormal bleeding, Purpura, Anemia, Thrombocytosis, Pancytopenia, Petechiae, Leukocytosis, Portal...	ORPHA:824
Schnitzler Syndrome	Anemia, Increased bone mineral density, Vasculitis, Skin rash, Arthritis, Leukocytosis, Lymphoma,...	ORPHA:37748
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Anemia, Petechiae, Increased bone mineral density, Facial palsy, Reticulocytosis, ...	OMIM:611490
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Gray Platelet Syndrome	Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number...	OMIM:139090
Mueller-Weiss Syndrome	Knee osteoarthritis, Arthritis, Facet joint arthrosis, Limitation of movement at ankles, Joint st...	ORPHA:566943
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Facial palsy, Abnormal cortical bone morphology	ORPHA:3416
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Rimmed vacuoles, Hyperlordosis, Kyphosis, Increased variability in mu...	OMIM:300718
Juvenile Arthritis	Skin rash, Thrombocytosis, Leukocytosis	OMIM:618795
Parastremmatic Dwarfism	Short neck, Scoliosis, Flexion contracture, Kyphosis	OMIM:168400
Sclerosteosis	Increased bone mineral density, Facial palsy, Craniofacial hyperostosis, Abnormal cortical bone m...	ORPHA:3152
Von Willebrand Disease, Type 3	Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Menorrhagia, Joint hem...	OMIM:277480
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Galactosuria	OMIM:230200
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Aplasia Cutis Congenita	Abnormality of bone mineral density, Prolonged bleeding time, Facial palsy	ORPHA:1114
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Dentin Dysplasia	Increased bone mineral density, Exostoses	ORPHA:1653
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Prolonged bleeding time, Abnormal bleeding, Giant platelets	OMIM:608404
Thrombocythemia 3	Ischemic stroke, Thrombocytosis	OMIM:614521
Slc35A1-Cdg	Abnormal bleeding, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Prolonged bleed...	ORPHA:238459
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Facial palsy	ORPHA:178377
Morm Syndrome	Cataract, Retinal atrophy, Micropenis	ORPHA:75858
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Abnormal epiphyseal ossifi...	ORPHA:93284
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Myositis, Malar rash, Skin rash, Pustular rash, Joint stiffness, Pustule, Leukopenia, Ske...	OMIM:615934
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time, Abnormal bleeding	OMIM:314560
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe...	OMIM:209050
Hemophilia B	Cephalohematoma, Intramuscular hematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding...	ORPHA:98879
Bethlem Myopathy 2	Distal joint hypermobility, Scoliosis, Scapular winging, Kyphosis, Increased variability in muscl...	OMIM:616471
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epistaxis, Increased mean pl...	ORPHA:182050
Blue Rubber Bleb Nevus	Skin rash, Intestinal bleeding, Cavernous hemangioma, Prolonged bleeding time, Microcytic anemia,...	ORPHA:1059
Tatsumi Factor Deficiency	Prolonged bleeding time, Abnormal bleeding	OMIM:272650
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P...	OMIM:601399
Poems Syndrome	Sclerosis of hand bone, Pulmonary arterial hypertension, Hemangioma, Sclerosis of foot bone, Poly...	ORPHA:2905
Intermediate Osteopetrosis	Anemia, Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent f...	ORPHA:210110
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Scoliosis, Kyphosis, Generalized amyotrophy, Flexion contracture, Joint hypermob...	OMIM:618323
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Wiskott-Aldrich Syndrome	Hematemesis, Spontaneous hematomas, Abnormal platelet function, Epistaxis, Hematochezia, Abnormal...	ORPHA:906
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Immunodeficiency 27A	Anemia, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytosis,...	OMIM:209950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Internal hemorrhage, Hemangioma, Patent du...	ORPHA:90308
Metatropic Dysplasia	Abnormal cortical bone morphology, Abnormal intervertebral disk morphology, Abnormal form of the ...	ORPHA:2635
Ghosal Hematodiaphyseal Dysplasia	Abnormal cortical bone morphology, Anemia, Craniofacial hyperostosis, Abnormal form of the verteb...	ORPHA:1802
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly, Arrhythmia	OMIM:618453
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar...	ORPHA:71493
Factor V Deficiency	Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P...	OMIM:227400
Diastrophic Dysplasia	Abnormal form of the vertebral bodies, Increased bone mineral density, Scoliosis, Kyphosis, Joint...	ORPHA:628
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Impaired platelet aggregation, Aortic valve stenosis, Menorrhagia, J...	OMIM:193400
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, J...	ORPHA:2485
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Platelet Disorder, Undefined	Abnormal bleeding, Impaired platelet aggregation, Neuroblastoma, Thrombocytopenia, Hematological ...	OMIM:173420
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto...	ORPHA:3226
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical sclerosis, Craniofacia...	OMIM:122860
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Heme Oxygenase 1 Deficiency	Hypertension, Asplenia, Epistaxis, Coombs-positive hemolytic anemia, Diffuse alveolar hemorrhage,...	OMIM:614034
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Distal lower limb muscle weakness, Lower limb amyotrophy, Scoliosis, Hyperlordosis, Scapular wing...	OMIM:615290
Idiopathic Hypereosinophilic Syndrome	Splenomegaly, Supraventricular arrhythmia, Myelofibrosis, Transient ischemic attack, Neutrophilia...	ORPHA:3260
Proteus Syndrome	Kyphoscoliosis, Lipoma, Calvarial hyperostosis, Mandibular hyperostosis, Hemangioma, Spinal canal...	OMIM:176920
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Anemia, Pancytopenia, Increased bone min...	OMIM:259700
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Rickets, Iron deficiency anemia, Macrocytic anemia, Lymphoma, Osteopo...	OMIM:212750
Prothrombin Deficiency, Congenital	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he...	OMIM:613679
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism	ORPHA:1381
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Osteopenia, Cardiomyopathy, Kyphosis, Pericarditis, Flexion contractu...	OMIM:212065
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Mixed Connective Tissue Disease	Myocarditis, Purpura, Gastrointestinal hemorrhage, Myositis, Arthritis, Skin rash, Pulmonary arte...	ORPHA:809
Brachyolmia Type 1, Hobaek Type	Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoli...	OMIM:271530
Thrombocytopenia, Paris-Trousseau Type	Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia	OMIM:188025
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Hyperlordosis, Skeletal muscle a...	ORPHA:970
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Kyphosis	OMIM:277950
Majeed Syndrome	Hypochromic microcytic anemia, Increased bone mineral density, Leukocytosis, Synovitis, Pustule, ...	ORPHA:77297
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy, Foot dorsiflexor weakness	OMIM:617087
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol...	ORPHA:232
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Facial palsy...	OMIM:166600
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,...	ORPHA:75840
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Hermansky-Pudlak Syndrome 7	Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleedin...	OMIM:614076
Werner Syndrome	Hypertension, Joint stiffness, Neoplasm, Acral lentiginous melanoma, Thyroid carcinoma, Ovarian n...	ORPHA:902
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture...	ORPHA:536516
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Congenital Factor Ii Deficiency	Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s...	ORPHA:325
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Prolonged bleeding time, Hypertrophic cardiomyopathy	ORPHA:638
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Thickened cortex of...	OMIM:607634
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Osteopetrosis, Anemia, Petechiae, Leukocytosis, Abnormality of thrombocytes, E...	OMIM:612840
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip co...	OMIM:313420
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Ck Syndrome	Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility	OMIM:300831
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Increased bone mineral density, Thoracic kyphosis, Anisospondyly, Ovo...	ORPHA:163649
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat...	ORPHA:98855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Purpura, Anemia, Pancytopenia, Vasculitis, Skin rash, Hypertension, Arthritis, Leukocytosis, Port...	OMIM:615688
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Platyspondyly, Increas...	OMIM:614856
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, T-cell lymphoma, Impaired lymphocyte transformation with phytohemagg...	OMIM:243150
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Senior-Loken Syndrome	Nephronophthisis, Abnormality of retinal pigmentation, Congenital hepatic fibrosis, Chronic kidne...	ORPHA:3156
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Scoliosis, Hypertrophic cardiomyopathy,...	OMIM:618234
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Platyspondyly, Vertebral compression fracture, Recurrent fractures, Decreased calvari...	OMIM:616229
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Scoliosis, Premature osteoarthritis, Kyphosis, Contracture of the proximal interphala...	OMIM:130060
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Laurence-Moon Syndrome	Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the urethral meatus, Cataract, ...	ORPHA:2377
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Epistaxis...	OMIM:614074
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Joint hypermobility, Scoliosis, Osteoporosis, Joint stiffness, Osteomalacia,...	ORPHA:1901
X-Linked Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat...	ORPHA:98863
Diamond-Blackfan Anemia 1	Hypoplastic coccygeal vertebrae, Macrocytic anemia, Hypoplastic sacral vertebrae, Congenital hypo...	OMIM:105650
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Limb-girdle muscular dystrophy, Myopat...	ORPHA:98853
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Fibrosarcoma, Fractures of the long bones, Histiocytom...	OMIM:112250
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism	ORPHA:363741
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri...	ORPHA:2114
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Facial palsy, EMG: myopathic abnormal...	OMIM:606612
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Cataract, I...	ORPHA:1473
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Scoliosis, Platyspondyly, Thin bony cortex	OMIM:265900
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Increased variability in muscle fiber diameter, Centrally nu...	OMIM:618484
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Fetal Akinesia Deformation Sequence 4	Kyphosis, Camptodactyly, Skeletal muscle atrophy, Short neck, Arthrogryposis multiplex congenita	OMIM:618393
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Osteopetrosis, Autosomal Recessive 9	Osteopetrosis, Anemia, Increased bone mineral density, Cortical sclerosis, Pathologic fracture	OMIM:620366
Myofibrillar Myopathy 10	Ankle flexion contracture, Prolonged QTc interval, Elbow flexion contracture, EMG: myopathic abno...	OMIM:619040
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Dysostosis, Stanescu Type	Increased bone mineral density, Scoliosis, Hyperlordosis, Kyphosis, Exostoses, Massively thickene...	ORPHA:1798
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Zimmermann-Laband Syndrome 3	Flexion contracture, Kyphosis, Patent ductus arteriosus	OMIM:618658
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Pancytopenia, Recurrent fractu...	OMIM:259710
Bruck Syndrome 1	Ankle flexion contracture, Platyspondyly, Vertebral wedging, Scoliosis, Elbow flexion contracture...	OMIM:259450
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis, Myopathy, Hypertrophic cardiomyopathy	OMIM:618237
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Anemia, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis	OMIM:226300
Wagr Syndrome	Displacement of the urethral meatus, Cataract, Ambiguous genitalia, Aplasia/Hypoplasia of the iri...	ORPHA:893
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Anemia, Cardiac arrest, Hypotension, Leukocytosis, Leukopenia, Dilate...	ORPHA:20
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Coats Disease	Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract	ORPHA:190
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Scoliosis, Hyperlordosis, Kyphosis, Proximal amyotrophy	OMIM:617404
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density, Kyphosis	OMIM:618392
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Exostoses of the radius, Increased bone mineral density, Exostoses of the ulna, Scoli...	ORPHA:85188
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Hemangiomatosis, Torticollis, Osteolysis involving bones ...	ORPHA:73
Albers-Schönberg Osteopetrosis	Anemia, Arthritis, Recurrent fractures, Abnormal leukocyte morphology, Facial palsy, Osteoarthrit...	ORPHA:53
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma	OMIM:601794
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Elevated red cell adenosine deaminase activity, Acute myeloid...	ORPHA:124
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Abnormal vertebral morphology,...	OMIM:215045
Osteopathia Striata-Cranial Sclerosis Syndrome	Osteopetrosis, Spina bifida occulta, Increased bone mineral density, Scoliosis, Hyperlordosis, Fa...	ORPHA:2780
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Facial myokymia, Eczematoid dermatitis	OMIM:620007
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Scoliosis, Kyphosis, Short neck, Flexion contracture, Minicore myopathy, Arthrogryposis multiplex...	ORPHA:178148
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Macroglossia	ORPHA:1423
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Hepatic fibrosis	OMIM:613313
Dentinogenesis Imperfecta	Hyperextensibility at elbow, Knee joint hypermobility, Joint hypermobility, Bruising susceptibili...	ORPHA:49042
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Flexion contracture of toe, Scoliosis, Osteoporosis, Kyphosis, Finger joint...	ORPHA:48431
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Myopathy	OMIM:109130
Neuroleptic Malignant Syndrome	Thrombocytosis, Bradycardia, Hypertension, Hypertensive crisis, Hypotension, Leukocytosis, Rhabdo...	ORPHA:94093
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract	OMIM:614292
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ...	ORPHA:1782
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Macs Syndrome	Scoliosis, Osteoporosis, Bruising susceptibility, Joint hypermobility, Prolonged bleeding time	OMIM:613075
Hypogonadism-Cataract Syndrome	Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism	OMIM:240950
Mitochondrial Myopathy And Sideroblastic Anemia	Generalized limb muscle atrophy, Anemia, Scoliosis, Kyphosis, Myopathy	ORPHA:2598
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Congenital Arthrogryposis With Anterior Horn Cell Disease	Scoliosis, Facial diplegia, Kyphosis, Skeletal muscle atrophy, Short neck, Arthrogryposis multipl...	OMIM:611890
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the 5th finger, Scoliosis, Kyphosis, Congenital contracture, Eczematoid derm...	ORPHA:352490
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Anemia, Facial palsy, Thrombocytopenia, Splenomegaly	OMIM:615085
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Generalized osteosclerosis, Increased bone mineral density, Sco...	ORPHA:763
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Wiskott-Aldrich Syndrome	Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,...	OMIM:301000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Calf muscle hypertrophy, Hyperlordosis, Scoliosis, Kyphosis, Achilles tendon ...	OMIM:607155
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Decreased mean corpuscular volume, Increased HbA2 hemoglobin, Cor...	OMIM:616943
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
Caffey Disease	Scoliosis, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregula...	ORPHA:1310
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Kyphosis,...	OMIM:255200
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Abnormal enchon...	OMIM:156530
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Kyphosis	ORPHA:101075
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Limitation of joint mob...	ORPHA:1486
Sandhoff Disease	Congestive heart failure, Splenomegaly, Kyphosis	ORPHA:796
Intellectual Disability-Developmental Delay-Contractures Syndrome	Congenital foot contractures, Scoliosis, Distal amyotrophy, Limitation of joint mobility, Kyphosis	ORPHA:3454
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Thrombocyto...	ORPHA:290
Beta-Ketothiolase Deficiency	Thrombocytosis, Hypertension, Leukocytosis, Hypotension	ORPHA:134
Pachydermoperiostosis	Gastrointestinal hemorrhage, Abnormal cortical bone morphology, Anemia, Seborrheic dermatitis, Ar...	ORPHA:2796
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Storage Pool Platelet Disease	Acute leukemia, Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Myelo...	OMIM:185050
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Impaired ADP-induced platelet aggregati...	OMIM:608233
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Wrist flexion contracture, Abnormally...	ORPHA:800
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Congenital Factor X Deficiency	Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hem...	ORPHA:328
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Sialidosis Type 2	Kyphosis, Osteoporosis, Flexion contracture, Splenomegaly, Skeletal muscle atrophy	ORPHA:87876
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis, Osteoporosis	ORPHA:2786
Cataract 47	Cataract, Glycosuria, Microcornea	OMIM:612018
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Anemia, Hypochromic microcytic anemia, Limb hypertonia, Panc...	OMIM:259720
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Diaphyseal sclerosis, Increased bone mineral density, Short neck, Increase...	ORPHA:94089
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle...	OMIM:618138
Autoimmune Hypoparathyroidism	Prolonged QT interval, Increased bone mineral density, Chronic mucocutaneous candidiasis, Ventric...	ORPHA:36913
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Spinal rigidity, Reduced muscle collagen VI, Torticollis, Distal joint hyperm...	OMIM:254090
Retinitis Pigmentosa 84	Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:618220
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia, Abnormal form of the vertebral bodies, Scoliosis, Kyph...	ORPHA:3344
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Trichothiodystrophy	Osteopenia, Anemia, Craniosynostosis, Increased mean corpuscular hemoglobin concentration, Increa...	ORPHA:33364
Bruck Syndrome	Scoliosis, Osteoporosis, Kyphosis, Joint stiffness, Platyspondyly, Arthrogryposis multiplex conge...	ORPHA:2771
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Congenital Myopathy 22A, Classic	Spinal rigidity, Kyphosis, Bradycardia, Ragged-red muscle fibers, Scoliosis, Scapular winging, Co...	OMIM:620351
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Kyphosis	OMIM:300434
Camurati-Engelmann Disease	Anemia, Diaphyseal sclerosis, Increased bone mineral density, Scoliosis, Cortical thickening of l...	OMIM:131300
Brucellosis	Myocarditis, Purpura, Anemia, Hip osteoarthritis, Arteritis, Knee osteoarthritis, Arthritis, Tran...	ORPHA:1304
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:616756
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Limited elbow movement, Skeletal muscle hypertrophy, Scoliosis, Cardiomyopathy, C...	OMIM:300280
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Platyspondyly, Increased intervertebral space, Sclerosis of han...	OMIM:224300
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excr...	OMIM:256550
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Cardiomyopathy, Ecchymosis, Epistaxis, Hematochezia, Bruising susceptibility, ...	OMIM:203300
Acquired Purpura Fulminans	Prolonged prothrombin time, Macular purpura, Skin rash, Internal hemorrhage, Thrombocytopenia, In...	ORPHA:49566
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrogryposis multiple...	OMIM:618291
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Increased level of galactitol in urine, Hepatosplen...	ORPHA:79237
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex, Osteopenia	ORPHA:85184
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Scoliosis, Kyphosis, Joint stiffness, Camptodactyly of finger, Acne,...	ORPHA:137834
Syndromic Diarrhea	Aortic regurgitation, Patent ductus arteriosus, Hypoplasia of the thymus, Increased mean platelet...	ORPHA:84064
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydro...	OMIM:222300
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane, Remnants of t...	OMIM:221900
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Skeletal muscle atrophy, Kyphosis	ORPHA:101078
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Kyphosis, Lu...	OMIM:609128
Typical Nemaline Myopathy	Spinal rigidity, Scoliosis, Facial diplegia, Facial palsy, Hyperlordosis, Nemaline bodies, Arthro...	ORPHA:171436
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Kyphosis, Generalized amyotrophy, Proxim...	OMIM:615084
Factor X Deficiency	Prolonged prothrombin time, Intramuscular hematoma, Gingival bleeding, Menorrhagia, Joint hemorrh...	OMIM:227600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Crisponi Syndrome	Scoliosis, Limitation of joint mobility, Kyphosis, Camptodactyly of finger, Flexion contracture, ...	ORPHA:1545
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Osteoporosis, Kyphosis, Ankylosis, Recurrent fractures	OMIM:239000
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene...	OMIM:214110
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Autosomal Recessive Spastic Paraplegia Type 53	Joint hypermobility, Kyphosis, Upper limb hypertonia	ORPHA:319199
Cranio-Osteoarthropathy	Abnormal cortical bone morphology, Arthritis, Eczematoid dermatitis, Joint stiffness, Osteoarthritis	ORPHA:1525
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly	OMIM:234250
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Arthritis, Skin rash, De...	OMIM:301074
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Acquired Von Willebrand Syndrome	Prolonged prothrombin time, Gastrointestinal hemorrhage, Normocytic anemia, Melena, Aortic regurg...	ORPHA:99147
Osteogenesis Imperfecta, Type Ix	Scoliosis, Kyphosis, Decreased calvarial ossification, Multiple prenatal fractures, Platyspondyly...	OMIM:259440
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Ragged-red muscle fibers, Kyphosis, Generalized amyotrophy, Arrhythmia, Weakness...	ORPHA:352447
Borjeson-Forssman-Lehmann Syndrome	Cervical spinal canal stenosis, Scoliosis, Scheuermann-like vertebral changes, Kyphosis	OMIM:301900
Eiken Syndrome	Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,...	ORPHA:79106
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Joint hypermobility, Muscular dystrophy, Kyphosis	ORPHA:1875
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration	OMIM:193230
Hermansky-Pudlak Syndrome 6	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu...	OMIM:614075
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Multiple small vertebral fractures, Multiple prenatal fractures, Re...	OMIM:619795
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Pelger-Huet Anomaly	Giant platelets, Kyphosis, Hyposegmentation of neutrophil nuclei, Eczematoid dermatitis, Lower li...	OMIM:169400
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormality of the vertebral column, Vertebral wedging, Scoliosi...	ORPHA:93314
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Sea-blue histiocytosis, Platyspondyly, Scoliosis, Joint stiffness, H...	OMIM:230600
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S...	ORPHA:79477
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Pulmonic stenosis, Increased mean platelet volume, Splenomegaly, Thrombocyt...	OMIM:222470
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Scoliosis, Kyphosis, Splenomegaly, Skeletal muscle atrophy,...	OMIM:230650
Grant Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb...	ORPHA:2969
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis	ORPHA:276630
Intellectual Developmental Disorder, Autosomal Dominant 26	Scoliosis, Arthrogryposis multiplex congenita, Kyphosis	OMIM:615834
Mucolipidosis Iii Gamma	Aortic regurgitation, Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Finger...	OMIM:252605
Alpha-Mannosidosis	Craniofacial hyperostosis, Arthritis, Scoliosis, Synostosis of joints, Kyphosis, Splenomegaly, Sh...	ORPHA:61
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology	ORPHA:166277
Arthrogryposis, Distal, Type 5	Firm muscles, Scoliosis, Congenital finger flexion contractures, Kyphosis, Decreased muscle mass,...	OMIM:108145
Scapuloperoneal Spinal Muscular Atrophy	Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus...	OMIM:181405
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Familial Expansile Osteolysis	Thin bony cortex, Pathologic fracture, Osteolysis	OMIM:174810
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Increased skull ossifica...	OMIM:618476
Microcephalic Primordial Dwarfism, Montreal Type	Scoliosis, Reduced bone mineral density, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Gaucher Disease	Osteopenia, Abnormal bleeding, Anemia, Pancytopenia, Increased bone mineral density, Abnormal bon...	ORPHA:355
Cogan Syndrome	Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Leukocytosis, Thrombocytosis	ORPHA:1467
Masa Syndrome	Hyperlordosis, Kyphosis	OMIM:303350
Kawasaki Disease	Myocarditis, Congestive heart failure, Vasculitis, Skin rash, Arthritis, Leukocytosis, Pericardit...	ORPHA:2331
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Cdkl5-Deficiency Disorder	Scoliosis, Kyphosis	ORPHA:505652
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Hypertension, Osteoporosis, Kyphosis, Skeletal muscle atrophy, Neoplasm, Bruising sus...	OMIM:219080
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Spastic Paraplegia 53, Autosomal Recessive	Joint hypermobility, Lower limb hypertonia, Kyphosis, Upper limb hypertonia	OMIM:614898
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis, Scoliosis, Skeletal muscle atrophy	ORPHA:94063
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Atypical Werner Syndrome	Reduced bone mineral density, Calf muscle hypertrophy, Hypertension, Neoplasm of the skin, Aortic...	ORPHA:79474
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Aniridia-Absent Patella Syndrome	Cataract, Cryptorchidism, Aniridia	ORPHA:1069
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Patent ductus arteriosus	OMIM:619797
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypo...	OMIM:301108
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Kyp...	OMIM:259600
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Lenz-Majewski Hyperostotic Dwarfism	Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de...	ORPHA:2658
Desmosterolosis	Increased bone mineral density, Osteopetrosis, Splenomegaly, Patent ductus arteriosus	ORPHA:35107
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney...	OMIM:208540
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Sple...	OMIM:235200
Paget Disease Of Bone 3	Osteosarcoma, Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Combined Deficiency Of Factor V And Factor Viii	Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo...	ORPHA:35909
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Kyphosis, Osteoporosis, Camptodactyly of finger, Short neck, Recurren...	ORPHA:3409
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ectopic posterior pitu...	OMIM:610125
Flynn-Aird Syndrome	Bone cyst, Scoliosis, Kyphosis, Joint stiffness, Skeletal muscle atrophy	ORPHA:2047
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:1548
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Proximal tubulopathy, Anem...	ORPHA:231222
Congenital Factor Vii Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin...	ORPHA:327
Pseudohypoparathyroidism Type 1A	Calcinosis, Reduced bone mineral density, Prolonged QT interval, Increased bone mineral density, ...	ORPHA:79443
Craniometaphyseal Dysplasia	Osteopetrosis, Facial palsy, Craniofacial hyperostosis	ORPHA:1522
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Increased bone mineral density, Scoliosis, Osteolytic defects o...	OMIM:265800
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Cataract, Nephropathy	OMIM:247410
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Thoracolumbar kyphosis, Platyspondyly, Delayed epiphyseal ossification, Scoliosis...	ORPHA:93360
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru...	ORPHA:335
Weismann-Netter Syndrome	Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyphosis	OMIM:112350
Desmosterolosis	Gingival fibromatosis, Patent ductus arteriosus, Generalized osteosclerosis, Arthrogryposis multi...	OMIM:602398
Osteogenesis Imperfecta, Type Iii	Scoliosis, Pulmonary arterial hypertension, Kyphosis, Decreased calvarial ossification, Multiple ...	OMIM:259420
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Scoliosis, Kyphosis, Osteoporosis, Joint contracture, Telangiectasia of the skin	OMIM:615381
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Coloboma, Ocular, Autosomal Recessive	Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma	OMIM:216820
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Rhizomelic Syndrome, Urbach Type	Abnormal form of the vertebral bodies, Limitation of joint mobility, Kyphosis, Pulmonic stenosis,...	ORPHA:3098
Leukocyte Adhesion Deficiency	Perianal abscess, Abnormal bleeding, Chronic oral candidiasis, Acute myeloid leukemia, Impaired p...	ORPHA:2968
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thoracic kyphosis, Thin bony cortex	OMIM:619638
Wieacker-Wolff Syndrome	Congenital foot contractures, Distal amyotrophy, Hyperlordosis, Facial palsy, Scoliosis, Camptoda...	OMIM:314580
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Cataract, Cryptorchidism, Pigmentary retinopathy	OMIM:300578
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Marinesco-Sjogren Syndrome	Scoliosis, Rimmed vacuoles, Kyphosis, Centrally nucleated skeletal muscle fibers, Flexion contrac...	OMIM:248800
Norrie Disease	Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of...	OMIM:310600
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Scoliosis, Kyphosis	ORPHA:99014
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Cephalohematoma, Sandwich appearance of vertebral bodies, Increased bone mineral density, Coarse ...	OMIM:620558
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis, Foot dorsiflexor weakness	OMIM:618124
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Emanuel Syndrome	Congenital diaphragmatic hernia, Chronic oral candidiasis, Sacral dimple, Torticollis, Scoliosis,...	OMIM:609029
Spastic Paraplegia 46, Autosomal Recessive	Limb muscle weakness, Scoliosis, Kyphosis, Lower limb muscle weakness	OMIM:614409
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Increased bone mineral density, Scoliosis, Synostosis of carpal bones, Camptod...	ORPHA:90652
Wieacker-Wolff Syndrome, Female-Restricted	Scoliosis, Facial palsy, Kyphosis, Short neck, Hip contracture, Achilles tendon contracture, Flex...	OMIM:301041
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Subaortic Stenosis-Short Stature Syndrome	Acne, Scoliosis, Synostosis of carpal bones, Kyphosis, Arrhythmia, Short neck	ORPHA:3191
Mcdonough Syndrome	Scoliosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:2471
Fibrous Dysplasia Of Bone	Rickets, Osteosarcoma, Thyroid carcinoma, Pathologic fracture, Abnormal lumbar spine morphology, ...	ORPHA:249
Erdheim-Chester Disease	Congestive heart failure, Anemia, Increased bone mineral density, Skin rash, Osteolysis, Osteomye...	ORPHA:35687
Gaucher Disease Type 3	Anemia, Pancytopenia, Increased bone mineral density, Pulmonary arterial hypertension, Thrombocyt...	ORPHA:77261
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Hypoparathyroidism, Familial Isolated, 1	Cataract, Nephrocalcinosis, Hypoparathyroidism	OMIM:146200
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Lens luxation, Vesicourete...	OMIM:120330
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia	OMIM:615486
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem...	OMIM:240300
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Multiple lipom...	OMIM:151800
Relapsing Fever	Prolonged prothrombin time, Abnormal bleeding, Anemia, Hypotension, Leukocytosis, Neutrophilia, E...	ORPHA:91547
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid...	OMIM:609049
Gm1 Gangliosidosis	Congestive heart failure, Patent ductus arteriosus, Abnormal form of the vertebral bodies, Scolio...	ORPHA:354
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Platyspondyly, Scoliosis, Hyperlordosis, K...	OMIM:253000
Sjögren-Larsson Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:816
Pituitary Adenoma 4, Acth-Secreting	Purpura, Vertebral compression fracture, Hypertension, Osteoporosis, Kyphosis, Biconcave vertebra...	OMIM:219090
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hydroneph...	ORPHA:1655
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Pinguecula, Cholelithiasis, Pancytopenia, Hematuria, Biliary tra...	ORPHA:77259
Schaaf-Yang Syndrome	Scoliosis, Kyphosis, Camptodactyly, Flexion contracture, Arthrogryposis multiplex congenita	OMIM:615547
Hurler-Scheie Syndrome	Aortic regurgitation, Scoliosis, Pulmonary arterial hypertension, Kyphosis, Joint stiffness, Camp...	OMIM:607015
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Prolonged prothrombin time, Abnormal bleeding, Epiphyseal stippling, Joint hemorrhage, Epistaxis,...	OMIM:277450
Thanatophoric Dysplasia	Platyspondyly, Patent ductus arteriosus, Kyphosis, Joint stiffness, Abnormal sacroiliac joint mor...	ORPHA:2655
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Cervical instability, Scol...	ORPHA:94068
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Raine Syndrome	Increased bone mineral density, Short neck, Arthrogryposis multiplex congenita, Subperiosteal bon...	OMIM:259775
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, Splenomegaly, Hypogonadism, Cryptor...	ORPHA:251066
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis	OMIM:615761
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cryptorchidism, Mul...	ORPHA:3301
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly...	ORPHA:294
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hypermobility, Scoliosis, Aortic regurgitation, Kyphosis	ORPHA:2181
Meckel Syndrome	Optic atrophy, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Microcornea,...	ORPHA:564
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iris coloboma	OMIM:212550
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re...	OMIM:243605
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ...	ORPHA:2484
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal...	OMIM:183900
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis, Recurrent fractures, Osteoporosis	ORPHA:85193
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Nephritis, Proteinuria, Cata...	OMIM:203780
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Congestive heart failure, Portal hypertension, Hepatosplenomegaly, Fl...	ORPHA:367
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Kyphosis, Osteoporosis, Patent ductu...	OMIM:617190
Tricho-Dento-Osseous Syndrome	Increased bone mineral density	ORPHA:3352
Amyloidosis, Finnish Type	Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Cataract, Stage 5 ...	OMIM:105120
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Scoliosis, Hyperlordosis, Osteoporosis, Kyphosis, Aortic valve stenosis, Joint sti...	OMIM:253010
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Desbuquois Dysplasia 1	Platyspondyly, Scoliosis, Hyperlordosis, Osteoporosis, Kyphosis, Advanced tarsal ossification, Os...	OMIM:251450
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Scoliosis, Kyphosis, Short neck, Arrhythmia, Craniosynostosis, Arthrogrypos...	ORPHA:254346
Alg1-Cdg	Scoliosis, Limitation of joint mobility, Cardiomyopathy, Kyphosis	ORPHA:79327
Stüve-Wiedemann Syndrome	Osteopenia, Sacral dimple, Abnormal cortical bone morphology, Scoliosis, Elbow flexion contractur...	ORPHA:3206
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnor...	ORPHA:99901
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Kyphosis, Hump-shaped mound of bone ...	OMIM:313400
Pseudoachondroplasia	Limited elbow extension, Beaking of vertebral bodies, Atlantoaxial dislocation, Platyspondyly, De...	OMIM:177170
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Generalized osteoporosis, Biconcave vertebral bodies, Joint hyper...	OMIM:617952
Classical Ehlers-Danlos Syndrome	Osteopenia, Orthostatic hypotension, Scoliosis, Ecchymosis, Bruising susceptibility, Abnormal hea...	ORPHA:287
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal form of the vertebral bodies, Decreased skull ossification...	ORPHA:666
Doors Syndrome	Spina bifida occulta, Capillary hemangioma, Hemivertebrae, Lumbar scoliosis, Thrombocytosis, Sagi...	ORPHA:79500
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Kyphosis, Patent ductus arteriosus, Joint hypermobility	ORPHA:93274
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Zimmermann-Laband Syndrome 2	Short neck, Macroglossia, Kyphosis	OMIM:616455
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Scoliosis, Kyphosis, Joint stiffness, Radioulnar synostosis, Pate...	ORPHA:392
Mucopolysaccharidosis, Type Vii	Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Cardiomyopathy, Diastasis recti, ...	OMIM:253220
Pseudohypoparathyroidism Type 1C	Calcinosis, Prolonged QT interval, Increased bone mineral density, Ectopic ossification, Short neck	ORPHA:79444
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Distal amyotrophy, Flexion contracture, Kyphosis	OMIM:609541
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Limitation of joint mobility, Kyphosis, Atlantoaxial inst...	OMIM:607326
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex	ORPHA:75508
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Scoliosis, Kyphosis, Joint contracture of the 5th finger	ORPHA:1883
Marden-Walker Syndrome	Scoliosis, Camptodactyly, Congenital contracture, Kyphosis, Decreased muscle mass, Zollinger-Elli...	OMIM:248700
Hurler Syndrome	Cranial hyperostosis, Aortic regurgitation, Calvarial hyperostosis, Cardiomyopathy, Kyphosis, Joi...	OMIM:607014
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypop...	OMIM:610199
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Vertebral compression fracture, Hyperextensibility of the finger joints, Scoliosi...	OMIM:309583
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Congestive heart failure, Vacuolated lymphocytes, Scoliosis, Hypertr...	OMIM:230500
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck, Abnormal reticulocyte morphology	ORPHA:2522
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Patent ductus arteriosus	OMIM:614886
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Mgat2-Cdg	Osteopenia, Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Patent...	ORPHA:79329
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Lateral Meningocele Syndrome	Scoliosis, Kyphosis, Biconcave vertebral bodies, Short neck, Decreased muscle mass, Patent ductus...	OMIM:130720
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Increased bone mineral density...	OMIM:119600
Exudative Vitreoretinopathy 6	Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme...	OMIM:616468
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Multiple joint contractures	OMIM:128100
Weill-Marchesani Syndrome 1	Scoliosis, Pulmonic stenosis, Aortic valve stenosis, Joint stiffness, Spinal canal stenosis, Lumb...	OMIM:277600
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:600081
Becker Nevus Syndrome	Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy, Hamartoma	ORPHA:64755
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Hypomelanosis Of Ito	Scoliosis, Kyphosis	OMIM:300337
Distal Triplication 15Q	Scoliosis, Kyphosis, Camptodactyly, Flexion contracture, Patent ductus arteriosus, Nephroblastoma...	ORPHA:314588
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Scoliosis, Kyphosis, Camptodactyly of finger, Myelodysplasia, Joint hypermo...	OMIM:619951
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Weill-Marchesani Syndrome 2	Congestive heart failure, Flexion contracture of toe, Scoliosis, Elbow flexion contracture, Pulmo...	OMIM:608328
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Hypertension, Kyphosis, Osteoporosis, Bruising susceptibility	OMIM:610475
Williams Syndrome	Abnormal form of the vertebral bodies, Hypertension, Hyperlordosis, Cerebral ischemia, Kyphosis, ...	ORPHA:904
Myasthenic Syndrome, Congenital, 20, Presynaptic	Scoliosis, Facial palsy, Kyphosis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita	OMIM:617143
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Reduced bone mineral density, Spina bifida occulta, Kyphosis	ORPHA:2983
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint hypermobility, Distal lower limb amyotrophy, Macroglossia, Kyphosis	OMIM:300354
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Distal lower limb muscle weakness, Sacral dimple, Decreased proportion of...	ORPHA:508533
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur...	OMIM:241530
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed epiphyseal ossification, Cardiomyopathy, Leukocytosis, Splenomegaly, Sparse bone...	ORPHA:289157
Hemophilia B	Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he...	OMIM:306900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Kyphosis, Skeletal muscle atrophy, Thoracic scoliosis, Mitral regurgita...	OMIM:603387
Sanjad-Sakati Syndrome	Spinal canal stenosis, Myopathy, Patchy osteosclerosis	ORPHA:2323
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Intermittent claudication, Raynaud phenomeno...	OMIM:259900
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Scoliosis, Kyphosis	ORPHA:1858
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Abnormal intervertebral disk morphology, Spina bifida occulta, A...	ORPHA:2311
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Splenomegaly	OMIM:618541
Lopes-Maciel-Rodan Syndrome	Scoliosis, Kyphosis	OMIM:617435
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Scoliosis, Hypertension...	ORPHA:2769
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo...	OMIM:300554
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Vasculitis, Skin rash, Hypertension, Arthritis, Enchon...	ORPHA:1855
Osteogenesis Imperfecta, Type X	Osteopenia, Platyspondyly, Vertebral compression fracture, Scoliosis, Decreased calvarial ossific...	OMIM:613848
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Platyspondyly, Scoliosis, Hyperlordosis, Kyphosis, Spinal canal ste...	ORPHA:582
3-Methylglutaconic Aciduria, Type Viib	Prolonged prothrombin time, Congestive heart failure, Abnormal bleeding, Leukopenia, Flexion cont...	OMIM:616271
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Stickler Syndrome, Type I	Beaking of vertebral bodies, Platyspondyly, Spondylolisthesis, Arthritis, Scoliosis, Kyphosis, Mo...	OMIM:108300
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Anterior clefting of vertebral bodies, Fused cervical vertebrae,...	OMIM:265000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Kyphosis...	OMIM:143095
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Delayed phalangeal epiphyseal ossification, Laryngotracheomalaci...	OMIM:603546
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Abnormal B cell morphology, ...	OMIM:618223
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hyaloid vascular s...	OMIM:614643
Sialidosis Type 1	Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Splenomegaly, Skeletal muscle atrophy	ORPHA:812
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob...	ORPHA:89936
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Clark-Baraitser syndrome	Joint hypermobility, Scoliosis, Kyphosis	OMIM:300602
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Kyphosis, Coronal craniosynostosis, Platyspondyly, Recur...	OMIM:616294
Noonan Syndrome 14	Limited elbow extension, Aortic regurgitation, Scapular winging, Hypertrophic cardiomyopathy, Kyp...	OMIM:619745
Cowden Syndrome	Lipoma, Neoplasm of the skin, Kyphosis, Neoplasm, Neoplasm of the central nervous system, Adenoma...	ORPHA:201
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Kyphosis	ORPHA:464282
Ruvalcaba Syndrome	Limited elbow extension, Scoliosis, Kyphosis	OMIM:180870
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Tracheomalacia, Accessory spleen, Patent ductus arteriosus, Tach...	OMIM:618280
Fountain Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Spina bifida occulta, Scoliosis...	ORPHA:3219
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenom...	OMIM:617913
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis	ORPHA:3085
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Congenital muscular torticollis, Scoliosis, Hemivertebrae,...	ORPHA:2916
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scoliosis, Scapular winging, Kyphosis, Patent ductus arteriosus	OMIM:617061
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Multicentric ossification of proximal humeral epiphyses, Multicentri...	OMIM:223800
Osteogenesis Imperfecta, Type Viii	Osteopenia, Platyspondyly, Vertebral compression fracture, Scoliosis, Decreased skull ossificatio...	OMIM:610915
Oculodentodigital Dysplasia	Cranial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, H...	ORPHA:2710
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Mucolipidosis Type Ii	Pulmonary insufficiency, Aortic regurgitation, Abnormal atrioventricular valve physiology, Diasta...	ORPHA:576
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Frank-Ter Haar Syndrome	Osteopenia, Kyphoscoliosis, Anterior concavity of thoracic vertebrae, Osteoporosis, Cortical irre...	OMIM:249420
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:264700
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Anemia, Thickened cortex of long bones	OMIM:127000
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedul...	OMIM:259730
Knobloch Syndrome	Retinal detachment, Macular degeneration, Vesicoureteral reflux, Ectopia lentis, Lymphangioma, Bi...	ORPHA:1571
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Sacral dimple, Kyphosis	OMIM:618272
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:277440
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Limb hypertonia, Patent ductus arteriosus	OMIM:619909
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Joint hypermobility, Scoliosis, Kyphosis	ORPHA:94065
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Scoliosis, Kyphosis, Biconcave flattened vertebrae, Bowing of limbs...	OMIM:166220
Koolen-De Vries Syndrome	Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Eczematoid dermatitis, Pulmonic stenosis, ...	OMIM:610443
Achondroplasia	Limited elbow extension, Cervical spinal canal stenosis, Hip joint hypermobility, Kyphosis, Spina...	ORPHA:15
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Pulmonic sten...	OMIM:609008
Cataract 5, Multiple Types	Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract	OMIM:116800
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Scoliosis, Kyphosis, Joint hypermobility, Abnormality of muscle size	ORPHA:364028
Trisomy 13	Capillary hemangioma, Scoliosis, Kyphosis, Patent ductus arteriosus	ORPHA:3378
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Tracheobronchomalacia, Kyphosis, Hepatosplenomegaly, Splenomegaly, Flex...	OMIM:309900
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Bradycardia, Skin rash, Reticulocytosis, Pericarditis, Leukopenia, Ly...	ORPHA:99826
3M Syndrome	Increased vertebral height, Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Joint hypermobi...	ORPHA:2616
Trisomy 20P	Reduced bone mineral density, Platyspondyly, Abnormal form of the vertebral bodies, Scoliosis, Ve...	ORPHA:261318
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Prolonged prothrombin time, Abnormal bleeding, Epistaxis	OMIM:610842
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Platyspondyly, Synostosis of joints	ORPHA:50945
4Q21 Microdeletion Syndrome	Short neck, Scoliosis, Kyphosis	ORPHA:238750
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ...	OMIM:106210
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis	OMIM:300676
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Aortic regurgitation, Kyphosis, Back pain, Sacroiliac arthritis, Enthesitis, ...	OMIM:106300
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pulmonary embolism, Gastrointestinal hemorrhage, Scoliosis, Hypertension, Cerebral ischemia, Oste...	ORPHA:394
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Hypertension, Kyphosis, Osteoporosis, Bruising susceptibility	OMIM:610489
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Abnormal form of the vertebral bodies, Bone cyst, Scoliosis, Kyphosis, Hip contracture, P...	ORPHA:3042
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Retinal detachment, Microcornea, Reti...	OMIM:612109
Cockayne Syndrome Type 2	Scoliosis, Kyphosis, Flexion contracture, Limb hypertonia	ORPHA:90322
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Scoliosis, Kyphosis, Camptodactyly, Flexion contracture of finger, Osteomyelitis	ORPHA:88628
Neurofibromatosis Type 1	Rhabdomyosarcoma, Spinal neurofibroma, Pheochromocytoma, Neoplasm of the skin, Hypertension, Kyph...	ORPHA:636
Hellp Syndrome	Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Hypotension, Int...	ORPHA:244242
Hyperferritinemia With Or Without Cataract	Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract	OMIM:600886
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Multiple mucosal neuromas, Pheochromocytoma, Hypertension, Kyphosis, Gastrointe...	ORPHA:97685
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Primary Hyperoxaluria	Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Generalized osteoscle...	ORPHA:416
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Pr...	ORPHA:2062
Srd5A3-Cdg	Abnormal sacrum morphology, Microcytic anemia, Kyphosis	ORPHA:324737
Cowden Syndrome 1	Carcinoma, Scoliosis, Breast carcinoma, Kyphosis, Hamartomatous polyposis, Transitional cell carc...	OMIM:158350
Dent Disease 1	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	OMIM:300009
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Macrocytic anemia, Normoch...	OMIM:615512
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Spondylolisthesis, Scoliosis, Limitation of joint mobility, Cardiomyopathy,...	OMIM:252600
Atypical Rett Syndrome	Scoliosis, Kyphosis	ORPHA:3095
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Limited elbow extension, Thoracolumbar kyphosis, Platyspondyly, Hyperlordosis, Camptodactyly, Hyp...	OMIM:618019
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Scoliosis, Kyphosis, Retinal hemorrhage, Cerebral h...	OMIM:177850
Atelis Syndrome 2	Sacral dimple, Anemia, Supravalvar pulmonary stenosis, Kyphosis, Pulmonic stenosis, Thrombocytope...	OMIM:620185
Multiple Pterygium-Malignant Hyperthermia Syndrome	Congenital muscular torticollis, Capillary hemangioma, Scoliosis, Kyphosis, Camptodactyly of fing...	ORPHA:2215
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Kyphosis, Joint stiffness, Abnormal sacroiliac joint morphology, Platys...	ORPHA:1860
Camurati-Engelmann Disease	Anemia, Abnormality of the vertebral column, Hyperostosis, Scoliosis, Hyperlordosis, Facial palsy...	ORPHA:1328
Kasabach-Merritt Phenomenon	Prolonged prothrombin time, Hepatic hemangioma, Purpura, Anemia, Petechiae, Capillary hemangioma,...	ORPHA:2330
Alg12-Cdg	Prolonged prothrombin time, Abnormal bone ossification, B lymphocytopenia, Scoliosis, Camptodacty...	ORPHA:79324
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Rett Syndrome	Prolonged QTc interval, Scoliosis, Kyphosis, Skeletal muscle atrophy, Abnormal T-wave	OMIM:312750
Abetalipoproteinemia	Prolonged prothrombin time, Osteopenia, Distal lower limb muscle weakness, Abnormal bleeding, Con...	ORPHA:14
Sclerosteosis 1	Facial palsy, Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis...	OMIM:269500
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Hajdu-Cheney Syndrome	Osteopenia, Scoliosis, Decreased skull ossification, Osteoporosis, Kyphosis, Aortic valve stenosi...	ORPHA:955
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Thickened Achilles tend...	OMIM:203500
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kypho...	ORPHA:2789
Norrie Disease	Optic atrophy, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacity, Remnants of t...	ORPHA:649
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility,...	OMIM:617821
3C Syndrome	Scoliosis, Hemivertebrae, Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Short neck, Facial ...	ORPHA:7
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Mucopolysaccharidosis Type 6	Kyphosis, Joint stiffness, Ovoid vertebral bodies, Splenomegaly, Short neck, Macroglossia	ORPHA:583
Marfanoid-Progeroid-Lipodystrophy Syndrome	Craniosynostosis, Hyperextensibility of the finger joints, Hypertension, Scapular winging, Kyphos...	OMIM:616914
Alexander Disease	Osteopenia, Scoliosis, Hypertension, Facial palsy, Hypotension, Hyperlordosis, Kyphosis, Short ne...	ORPHA:58
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Corneal neovascularization, Reduced bone mineral density, Tarsal scle...	ORPHA:404454
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Vertebral compression fracture, S...	OMIM:259770
Weaver Syndrome	Limited elbow extension, Scoliosis, Diastasis recti, Limited knee extension, Camptodactyly, Kypho...	OMIM:277590
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Scoliosis, Synostosis of carpal bones, Kyphosis	ORPHA:3121
Marshall-Smith Syndrome	Large sternal ossification centers, Kyphoscoliosis, Atlantoaxial dislocation, Scoliosis, Hyperten...	OMIM:602535
Sialuria	Prolonged prothrombin time, Joint hypermobility, Hepatosplenomegaly, Neuropathic spinal arthropathy	ORPHA:3166
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukopenia, Spleno...	OMIM:603553
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Kyphosis, Pulmonary arterial hypertension, Exostoses, Platyspondyly, Ut...	OMIM:616482
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Osteopenia, Congestive heart failure, Neoplasm of the gallbladder, Sp...	ORPHA:171
Developmental Malformations-Deafness-Dystonia Syndrome	Scoliosis, Macroglossia, Kyphosis	ORPHA:79107
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Scoliosis, Elbow flexion contracture, Kyphosis, Hip contracture, Finger joint hypermobility	OMIM:618493
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Joint hypermobility, Scoliosis, Kyphosis	ORPHA:2479
Cowden Syndrome 6	Scoliosis, Kyphosis, Hamartomatous polyposis, Transitional cell carcinoma of the bladder, Meningi...	OMIM:615109
Schinzel-Giedion Midface Retraction Syndrome	Teratoma, Splenopancreatic fusion, Short neck, Hepatoblastoma, Thickened cortex of long bones, Sc...	OMIM:269150
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Skeletal m...	ORPHA:192
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomega...	OMIM:263700
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis, Acne	ORPHA:261190
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Splenomega...	OMIM:618641
Congenital Disorder Of Glycosylation, Type Il	Short neck, Splenomegaly, Kyphosis	OMIM:608776
Noonan Syndrome 9	Prolonged prothrombin time, Short neck, Pulmonic stenosis	OMIM:616559
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Scoliosis, Kyphosis, Thrombocytopenia, Dilated cardiomyopathy,...	ORPHA:261250
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Prominent protruding coccyx, Prominent coccyx, Scoliosis, Kyphosis, Ec...	OMIM:300966
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Rickets, Extramedullary hematopoiesis	ORPHA:79303
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Anemia, Craniosynostosis, Pulmonary arterial hyperte...	ORPHA:667
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Muscular dystrophy, Hepatocellular carcinoma, Cardiomyopathy	ORPHA:88618
Cowden Syndrome 5	Scoliosis, Kyphosis, Hamartomatous polyposis, Transitional cell carcinoma of the bladder, Meningi...	OMIM:615108
Cog8-Cdg	Prolonged prothrombin time, Spontaneous hematomas, Skeletal muscle atrophy	ORPHA:95428
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Scoliosis, Hyperlordosis, Kyphosis	OMIM:618443
Yellow Fever	Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Reduced left ventricular ejection fra...	ORPHA:99829
Monosomy 9Q22.3	Rhabdomyosarcoma, Basal cell carcinoma, Abnormality of the vertebral column, Odontogenic keratocy...	ORPHA:77301
Autosomal Recessive Ataxia, Beauce Type	Scoliosis, Skeletal muscle atrophy, Kyphosis, Lower limb muscle weakness	ORPHA:88644
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Kyphosis	ORPHA:3082
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Scoliosis, Kyphosis, Osteoporosis, Joint hypermobility	OMIM:619718
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Anemia, Pancytopenia, Pulmonary arterial hypertension, Elliptocytosis, Leukopenia,...	ORPHA:2785
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Macroglossia, Kyphosis	ORPHA:261144
X-Linked Intellectual Disability, Cabezas Type	Scoliosis, Kyphosis, Camptodactyly of finger, Joint hypermobility, Short neck	ORPHA:85293
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Scoliosis, Hyperlordosis, Kyphosis, Medullary thyroid carcinoma, Ganglioneuroma...	OMIM:162300
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Scoliosis, Facial palsy, Kyphosis, Camptodactyly of finger, Mitral regurgit...	ORPHA:261349
Hypermethioninemia Due To Adenosine Kinase Deficiency	Prolonged prothrombin time, Skeletal muscle atrophy, Pulmonic stenosis	OMIM:614300
Trisomy 9P	Short neck, Scoliosis, Sacral dimple, Kyphosis	ORPHA:236
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Facial palsy, Kyphosis, Hand muscle atrophy, Skeletal muscle atrophy	OMIM:211530
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Scoliosis, Kyphosis, Camptodactyly, Joint hypermobility	OMIM:617602
Tetraamelia Syndrome 1	Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal atresia, Urethral ...	OMIM:273395
Jaberi-Elahi Syndrome	Joint stiffness, Joint hypermobility, Scoliosis, Kyphosis	OMIM:617988
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Butterfly vertebrae, Scoliosis, Hemivertebrae, Kyphosis, Short neck	ORPHA:958
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Scoliosis, Tricuspid regurgitation, Kyphosis, Camptodactyly, Patent ductus arterio...	OMIM:616894
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Anemia, Abnormal trabecular bone morphology, Splenomegaly	OMIM:612301
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Scoliosis, Kyphosis, Eczematoid dermatitis, Aortic valve stenosis, Abnormal...	ORPHA:464306
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Scoliosis, Kyphosis, Osteoporosis, Flexion contracture	ORPHA:398069
Pelizaeus-Merzbacher Disease	Joint stiffness, Scoliosis, Kyphosis	ORPHA:702
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Joint hypermobility, Recurrent fractures	ORPHA:2050
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Vertebral segmentation defect, Synostosis of carpal bones, Kyphosis, Joint stiffness	ORPHA:1005
Fliedner-Zweier Syndrome	Joint hypermobility, Scoliosis, Kyphosis	OMIM:620511
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio...	OMIM:301040
Occipital Horn Syndrome	Limited elbow extension, Platyspondyly, Orthostatic hypotension, Bladder carcinoma, Limited knee ...	OMIM:304150
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Pulmonary arterial hypertension, Rhabdomyolysis, Tachycardia, Aborted...	OMIM:614921
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Scoliosis, Portal hypert...	OMIM:613658
Cardiofacioneurodevelopmental Syndrome	Pulmonic stenosis, Kyphosis, Camptodactyly, Asplenia	OMIM:619123
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Flexion contracture, Kyphosis	ORPHA:500055
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Aortic regurgitation, Scoliosis, Kyphosis, Aortic valve stenosis, Flex...	ORPHA:464311
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Tracheomalacia, Tracheobronchomalacia, Scoliosis, Kyphosis, S...	ORPHA:140
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Scoliosis, Kyphosis	ORPHA:404440
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time, Cardiomyopathy	OMIM:616483
Koolen-De Vries Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis, Joint hypermobility, Vertebral fusion	ORPHA:96169
Harrod Syndrome	Joint hypermobility, Scoliosis, Kyphosis	ORPHA:2115
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia	OMIM:267700
Microphthalmia, Lenz Type	Camptodactyly of finger, Scoliosis, Hyperlordosis, Kyphosis	ORPHA:568
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Osteoporosis, Kyphosis, Thenar muscle atrophy, Small hypothenar eminence, Contracture...	ORPHA:2232
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Kyphoscoliosis, Sacral dimple, Kyphosis, Thoracic scoliosis, Joint hypermobility, Bru...	ORPHA:536532
Poland Syndrome	Congenital diaphragmatic hernia, Acute leukemia, Aplasia of the pectoralis major muscle, Reduced ...	ORPHA:2911
Fucosidosis	Decreased muscle mass, Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Koolen-De Vries Syndrome Due To A Point Mutation	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Craniosynostosis, Tracheomalaci...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Craniosynostosis, Tracheomalaci...	ORPHA:363958
Marfan Syndrome	Osteopenia, Congestive heart failure, Limited elbow movement, Reduced bone mineral density, Abnor...	ORPHA:558
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen...	OMIM:300166
Dent Disease	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	ORPHA:1652
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Joint h...	OMIM:618050
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Kyphosis, Pulmonary arterial hypertension	OMIM:616449
Occipital Horn Syndrome	Rickets, Osteopenia, Platyspondyly, Joint hypermobility, Scoliosis, Synostosis of joints, Osteopo...	ORPHA:198
Spondyloperipheral Dysplasia	Limited elbow extension, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platysp...	OMIM:271700
Prader-Willi Syndrome	Osteopenia, Scoliosis, Kyphosis, Osteoporosis, Decreased muscle mass	OMIM:176270
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Scoliosis, Kyphosis	ORPHA:2075
Aspartylglucosaminuria	Beaking of vertebral bodies, Abnormal vertebral morphology, Abnormal cortical bone morphology, An...	ORPHA:93
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Contractures of the large joints, Kyphosis, Limb hypertonia	ORPHA:521426
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged prothrombin time, Prolonged QT interval, Hypertrophic cardiomyopathy, Hepatic necrosis,...	ORPHA:71212
Spondyloocular Syndrome	Osteopenia, Femur fracture, Vertebral compression fracture, Platyspondyly, Thin bony cortex	OMIM:605822
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Marden-Walker Syndrome	Muscular dystrophy, Abnormal form of the vertebral bodies, Scoliosis, Aplasia/Hypoplasia involvin...	ORPHA:2461
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Platyspondyly, Pathologic fracture, Spondylolisthesis...	OMIM:208400
Acute Liver Failure	Prolonged prothrombin time, Abnormal bleeding, Gastrointestinal hemorrhage, Skin rash, Hepatic pe...	ORPHA:90062
Proteus Syndrome	Abnormal form of the vertebral bodies, Lipoma, Calvarial hyperostosis, Kyphosis, Joint stiffness,...	ORPHA:744
Basel-Vanagaite-Smirin-Yosef Syndrome	Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 3rd finger, Pulmona...	ORPHA:464738
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hypomimic face, Contractures of the large joints, Kyphosis	OMIM:617527
Micro Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:2510
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Scoliosis, Kyphosis, Decreased hemoglobin concentration, Thromb...	OMIM:619005
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Capillary hemangioma, Scoliosis, Elbow flexion contracture, Kyphosis, Hip contracture, Knee flexi...	OMIM:619194
Cockayne Syndrome Type 3	Increased blood pressure, Scoliosis, Cardiomyopathy, Retinal hemorrhage, Kyphosis, Flexion contra...	ORPHA:90324
Monosomy 13Q34	Prolonged prothrombin time, Epistaxis, Hematochezia, Pulmonic stenosis	ORPHA:96168
Zttk Syndrome	Aortic regurgitation, Scoliosis, Hemivertebrae, Kyphosis, Flexion contracture, Patent ductus arte...	OMIM:617140
2Q31.1 Microdeletion Syndrome	Scoliosis, Vertebral segmentation defect, Kyphosis, Camptodactyly of finger, Short neck	ORPHA:251014
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Osteoporosis, Camptodactyly, Kyphosis, Decreased muscle mass, Recurrent fractures	ORPHA:3063
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Sacral dimple, Abnormal vertebral morphology, Abnormality of the...	ORPHA:280
Intellectual Developmental Disorder, Autosomal Dominant 73	Limited elbow extension, Scoliosis, Hyperlordosis, Kyphosis, Thoracolumbar scoliosis, Flexion con...	OMIM:620450
Tyrosinemia, Type I	Prolonged prothrombin time, Gastrointestinal hemorrhage, Hypophosphatemic rickets, Anemia, Melena...	OMIM:276700
Cohen Syndrome	Joint hypermobility, Scoliosis, Kyphosis, Neutropenia	ORPHA:193
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Hematochezia	OMIM:214950
Cdags Syndrome	Coronal craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis, Kyphosis	OMIM:603116
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Bilateral camptodactyly, Scoliosis, Kyphosis	OMIM:619557
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Scoliosis, Kyphosis, Left ventricular noncompaction cardiomyopathy, Right ventric...	OMIM:300967
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Prolonged prothrombin time, Intraventricular hemorrhage, Scoliosis	OMIM:619055
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Kyphosis, Knee flexion contracture	OMIM:619708
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypomimic face, Prolonged prothrombin time, Hypertrophic cardiomyopathy, Portal hypertension, Pol...	ORPHA:309854
Alstrom Syndrome	Congestive heart failure, Scoliosis, Hypertension, Hyperostosis frontalis interna, Kyphosis, Elev...	OMIM:203800
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Neuroocular Syndrome	Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Lens coloboma, Brushfield sp...	OMIM:619539
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Oculocerebrorenal Syndrome Of Lowe	Anemia, Platyspondyly, Arthritis, Scoliosis, Neoplasm of the skin, Kyphosis, Joint stiffness, Thr...	ORPHA:534
Stickler Syndrome	Reduced bone mineral density, Platyspondyly, Spondylolisthesis, Abnormal form of the vertebral bo...	ORPHA:828
Cockayne Syndrome A	Hypertension, Limitation of joint mobility, Kyphosis, Hip contracture, Ivory epiphyses of the pha...	OMIM:216400
Cockayne Syndrome	Limb hypertonia, Malar rash, Scoliosis, Hypertension, Retinal hemorrhage, Congenital contracture,...	ORPHA:191
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Anemia, Scoliosis, Osteoporosis, Thrombocytopenia, Splenomegaly, Blee...	OMIM:619525
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Kyphosis, Arrhythmia	OMIM:153400
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Kyphosis	OMIM:300942
Liver Failure, Infantile, Transient	Prolonged prothrombin time	OMIM:613070
Lowe Oculocerebrorenal Syndrome	Rickets, Platyspondyly, Pathologic fracture, Scoliosis, Kyphosis, Camptodactyly of finger, Osteom...	OMIM:309000
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Increased intervertebral space, Platyspondyly, Thin bony cortex	OMIM:619727
Cockayne Syndrome B	Hypertension, Limitation of joint mobility, Osteoporosis, Kyphosis, Ivory epiphyses of the phalan...	OMIM:133540
1P36 Deletion Syndrome	Scoliosis, Kyphosis, Joint stiffness, Camptodactyly of finger, Spinal canal stenosis, Neuroblasto...	ORPHA:1606
Autosomal Recessive Robinow Syndrome	Sacral dimple, Scoliosis, Vertebral segmentation defect, Synostosis of carpal bones, Kyphosis, Ca...	ORPHA:1507
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Scoliosis, Kyphosis	ORPHA:476126
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Tarsal synostosis, Kyphosis, Eczematoid dermatitis	ORPHA:85199
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Limited pronation/s...	ORPHA:1724
Acromegaly	Hypertension, Pituitary growth hormone cell adenoma, Hypertrophic cardiomyopathy, Kyphosis, Pitui...	ORPHA:963
Cono-Spondylar Dysplasia	Short neck, Scoliosis, Kyphosis	ORPHA:420794
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Congestive heart failure, Aortic regurgitation, Torticollis, Scoliosis, Kyphosis, Back pain, Abno...	OMIM:619475
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Faci...	ORPHA:818
Faciocardiomelic Syndrome	Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex	OMIM:612731
Intellectual Developmental Disorder, X-Linked 112	Joint hypermobility, Scoliosis, Kyphoscoliosis, Kyphosis	OMIM:301111
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Facial hypotonia, Limitation of joint mobility, Kyphosis, Joint hypermobility, Lu...	ORPHA:457359
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, Hypertrophic cardiomyopathy	OMIM:618329
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Sotos Syndrome	Ankle flexion contracture, Abnormal vertebral morphology, Small cell lung carcinoma, Bilateral ca...	ORPHA:821
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormal sternal ossification, Accessory spleen, Abnormal form of the vertebral bo...	OMIM:194190
Somatomammotropinoma	Hypertension, Pituitary growth hormone cell adenoma, Hypertrophic cardiomyopathy, Kyphosis, Pitui...	ORPHA:314769
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Scoliosis, Skeletal muscle atrophy, Kyphosis	ORPHA:1969
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Scoliosis, Hypertension, Osteopo...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Scoliosis, Hypertension, Osteopo...	ORPHA:99228
Monosomy X	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Scoliosis, Hypertension, Osteopo...	ORPHA:99226
Turner Syndrome	Osteopenia, Reduced bone mineral density, Prolonged QT interval, Scoliosis, Hypertension, Osteopo...	ORPHA:881
Viss Syndrome	Butterfly vertebrae, Epidural hemorrhage, Exostosis of the external auditory canal, Contracture o...	OMIM:619472
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time	OMIM:617049
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint hypermobility, Scoliosis, Hyperlordosis, Kyphosis	OMIM:617011
Ramon Syndrome	Gingival fibromatosis, Scoliosis, Kyphosis, Juvenile rheumatoid arthritis, Telangiectasia	OMIM:266270
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb hypertonia, Kyphosis, Foot dorsiflexor weakness	ORPHA:171629
Primrose Syndrome	Reduced bone mineral density, Distal amyotrophy, Osteoporosis, Kyphosis, Generalized osteoporosis...	OMIM:259050
Mend Syndrome	Aortic valve stenosis, Sacral dimple, Kyphosis, Limb hypertonia	ORPHA:401973
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Hepatosplenom...	ORPHA:247598
Wrinkly Skin Syndrome	Osteopenia, Hypoplasia of the musculature, Scoliosis, Scapular winging, Kyphosis, Joint hypermobi...	OMIM:278250
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Hemang...	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	Sacral dimple, Aortic regurgitation, Scoliosis, Kyphosis, Aortic valve stenosis	ORPHA:268261
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Kyphosis, Eczematoid dermatit...	ORPHA:2273
Mend Syndrome	Aortic valve stenosis, Sacral dimple, Kyphosis	OMIM:300960
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Sinus bradycardia, Kyphosis	OMIM:619482
Holoprosencephaly 2	Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Spondyloepimetaphyseal Dysplasia, X-Linked	Limited elbow extension, Platyspondyly, Delayed ossification of carpal bones, Kyphosis, Anterior ...	OMIM:300106
Coffin-Lowry Syndrome	Lumbar kyphosis, Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Mitral regurgitation	OMIM:303600
Cerebrocostomandibular Syndrome	Kyphosis, Tracheomalacia	ORPHA:1393
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time	OMIM:311250
Shprintzen Omphalocele Syndrome	Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:182210
Branchiooculofacial Syndrome	Elbow flexion contracture, Facial palsy, Hyperlordosis, Kyphosis, Fusion of middle ear ossicles, ...	OMIM:113620
Yunis-Varon Syndrome	Absent sternal ossification, Anterior concavity of thoracic vertebrae, Cardiomyopathy, Decreased ...	OMIM:216340
Alström Syndrome	Congestive heart failure, Hypertension, Hyperostosis frontalis interna, Pulmonary arterial hypert...	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

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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.

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MGI Allele	Allele Type	Produced
Thbs2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Thbs2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Thbs2 MGI:98738

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Thbs2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data