Gene Summary

thrombospondin 2
TSP2,  Thrombospondin-2,  Thbs-2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Thbs2em1(IMPC)Mbp HOM Early adult 7.12×10-05
abnormal prostate gland morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
small kidney Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
enlarged prostate gland Thbs2em1(IMPC)Mbp HOM Early adult 0.00
cataract Thbs2em1(IMPC)Mbp HOM Early adult 7.52×10-05
abnormal skin morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

36 Images


XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Thbs2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Thbs2 by phenotypic similarity.

Disease Similarity of
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
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
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
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
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
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
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
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, 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
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
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
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
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
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
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
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
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
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
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
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
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
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
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