Gene Summary

thrombospondin 2
TSP2,  Thbs-2,  Thrombospondin-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
small kidney Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal prostate gland morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
cataract Thbs2em1(IMPC)Mbp HOM   Early adult 9.72×10-08
abnormal skin morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
enlarged prostate gland Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal vitreous body morphology Thbs2em1(IMPC)Mbp HOM   Early adult 1.09×10-07
enlarged spleen Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Thbs2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen 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
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Scoliosis, Osteopoikilosis OMIM:166700
Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... ORPHA:2777
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Imp... OMIM:273800
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism OMIM:274205
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Giant platelets, Abnormal bleeding, Purpura, Epistaxis, Thrombo... OMIM:231200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Arthritis, Elbow flexion contracture, Pancytopenia, Hepatosplenomegaly,... OMIM:604416
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:155100
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy... ORPHA:75564
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Impaired collagen-induced platelet aggregation, A... OMIM:614201
Polycythemia Vera
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... OMIM:263300
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Myelodysplasia, Abnorma... ORPHA:86841
Melorheostosis With Osteopoikilosis
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis, Multiple lipomas ORPHA:1879
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Abnormality of the vertebral column, Ectopic ossification OMIM:602475
Isolated Osteopoikilosis
Tarsal sclerosis, Abnormal bone ossification, Discoid lupus rash, Increased bone mineral density,... ORPHA:166119
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Distal lower l... OMIM:600175
Osteosclerotic Metaphyseal Dysplasia
Sclerotic vertebral endplates, Increased bone mineral density, Clavicular sclerosis OMIM:615198
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Kyphoscoliosis, Joint... OMIM:136300
Increased bone mineral density, Low back pain OMIM:166450
Immunodeficiency 69
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Reticulocytosis, Epistaxis, I... OMIM:314050
Autoerythrocyte Sensitization Syndrome
Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Superficial dermal periv... ORPHA:324636
Aplasia Cutis Congenita
Prolonged bleeding time, Abnormality of bone mineral density, Facial palsy ORPHA:1114
Schnitzler Syndrome
Lymphoma, Anemia, Increased bone mineral density, Skin rash, Arthritis, Leukocytosis, Pruritus, S... ORPHA:37748
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Galactosemia Ii
Cataract, Prolonged neonatal jaundice, Galactosuria OMIM:230200
Osteopetrosis, Autosomal Recessive 4
Anemia, Recurrent fractures, Petechiae, Increased bone mineral density, Reticulocytosis, Scleroti... OMIM:611490
Primary Myelofibrosis
Anemia, Petechiae, Abnormal bleeding, Purpura, Pancytopenia, Ecchymosis, Hepatosplenomegaly, Poik... ORPHA:824
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Facet joint arthrosis, Joint... ORPHA:566943
Parastremmatic Dwarfism
Flexion contracture, Short neck, Scoliosis, Kyphosis OMIM:168400
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Myelofibrosis, Epi... OMIM:139090
Sickle Cell Anemia
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic ... ORPHA:232
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Septic arthritis, Megaloblastic anemia, Eczema, Pancytopenia, Lymphopenia, Thrombocytosis, Macroc... OMIM:617780
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Lymphoma, Acute myeloid leukemia, Abnormal alpha granule content, Myelodysplasia, Impaired platel... OMIM:601399
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Facial palsy ORPHA:3416
Juvenile Arthritis
Skin rash, Thrombocytosis, Leukocytosis OMIM:618795
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Hyperlordosis, Flexion contracture, Kyphosis, Spi... OMIM:300718
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Fac... ORPHA:3152
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Osteochondrosis Of The Metatarsal Bone
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones ORPHA:564003
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Foot dorsiflexor weakness, Kyphosis OMIM:617087
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Cataract, Hepatomegaly, Splenomegaly ORPHA:79238
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Skeletal muscle atrophy, Scoliosis, Lower limb muscle weakness OMIM:611225
Dentin Dysplasia
Increased bone mineral density, Exostoses ORPHA:1653
Thrombocythemia 3
Thrombocytosis, Ischemic stroke OMIM:614521
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis, Facial palsy ORPHA:178377
Essential Thrombocythemia
Abnormality of thrombocytes, Myelodysplasia, Transient ischemic attack, Myelofibrosis, Myocardial... ORPHA:3318
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... ORPHA:238459
Intermediate Osteopetrosis
Increased susceptibility to fractures, Back pain, Anemia, Osteomyelitis, Recurrent fractures, Gen... ORPHA:210110
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Leukopenia, Telangiectasia, Anemia, Skin rash, Raynaud phenomenon, Lymphopenia, Myosi... OMIM:615934
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Poems Syndrome
Pulmonary arterial hypertension, Sclerosis of foot bone, Abnormality of skin physiology, Polycyth... ORPHA:2905
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Myopathy, Scoliosi... OMIM:616471
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Blue Rubber Bleb Nevus
Skin rash, Visceral angiomatosis, Intestinal bleeding, Cavernous hemangioma, Prolonged bleeding t... ORPHA:1059
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Myasthenic Syndrome, Congenital, 25, Presynaptic
Flexion contracture, Kyphosis, Generalized amyotrophy, Spinal rigidity, Joint hypermobility, Myop... OMIM:618323
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Bruising susceptibility, Myocardial infarction, Menorrhagia, Gi... ORPHA:182050
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Increased bone mineral density, Stiff knee, Premature osteoarthritis, Short n... ORPHA:93284
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Eczema, Neoplasm, Prolonged bleeding time, Hemate... ORPHA:906
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Coarse metaphyseal trabecula... ORPHA:2635
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, Histiocytosis... OMIM:209950
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Congestive heart failure, Internal hemorrhage, Hema... ORPHA:90308
Increased bone mineral density OMIM:265880
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Ectopic kidney, Cataract, Hepatomegaly, Cryptorchidism, Optic disc pallor OMIM:613730
Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Skeletal muscle atrophy... ORPHA:2485
Galactosemia Iv
Cataract, Prolonged neonatal jaundice OMIM:618881
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly, Abnormal form... ORPHA:1802
Familial Thrombocytosis
Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Myelodysplasia, Trans... ORPHA:71493
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis, Arrhythmia OMIM:618453
Thrombocythemia 2
Thrombocytosis OMIM:601977
Proteus Syndrome
Thin bony cortex, Multiple lipomas, Spinal canal stenosis, Hemangioma, Facial hyperostosis, Kypho... OMIM:176920
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Kyphosis, Squared-off platyspondyly, Short neck, Osteo... OMIM:271530
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Increased bone mineral density, Visceral angiomatosis, Hypopla... ORPHA:628
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... OMIM:614034
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Platelet Disorder, Undefined
Abnormal bleeding, Impaired platelet aggregation, Hematological neoplasm, Prolonged bleeding time... OMIM:173420
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Impaired platelet aggregation, Bruising susceptibility, Epistax... OMIM:193400
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Facial diplegia, Diaphyseal sclerosis, Craniofacial osteosclerosis, Co... OMIM:122860
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Abnormal neutrophil count, Leukocytosis, Myelop... ORPHA:3226
Buschke-Ollendorff Syndrome
Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,... ORPHA:1306
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Lower limb mus... OMIM:615290
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Supraventricular arrhythmia, Eczema, Hepatosplenomegaly, Eosinophilia, Erythroder... ORPHA:3260
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Joint hyperflexibility, Scoli... ORPHA:40
Gaucher Disease Type 1
Pulmonary arterial hypertension, Leukopenia, Anemia, Kyphosis, Increased bone mineral density, Hy... ORPHA:77259
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Anemia, Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mine... OMIM:259700
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Cryptorchidism, Aplasia/Hypoplasia of the lens ORPHA:1381
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Celiac Disease, Susceptibility To, 1
Lymphoma, Eczema, Rickets, Prolonged prothrombin time, Macrocytic anemia, Thrombocytosis, Iron de... OMIM:212750
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Kyphosis, Pericarditis, Osteopenia, Prolonged prothrombin time, Thrombocytos... OMIM:212065
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... OMIM:613679
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Foot acroosteolysis, Abnormal cortical bone morphology, Osteolysis, Skeletal muscl... ORPHA:970
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Leukopenia, Hemolytic anemia, Skin rash, Arthritis, Purpura, Myo... ORPHA:809
Winchester Syndrome
Generalized osteoporosis, Carpal osteolysis, Kyphosis, Osteolysis involving tarsal bones OMIM:277950
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Hip osteoarthritis, Facial palsy, Generalized osteosclerosis, Abnormality of... OMIM:166600
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Congenital Muscular Dystrophy, Ullrich Type
Knee flexion contracture, Increased variability in muscle fiber diameter, Hyperextensibility at w... ORPHA:75840
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Morm Syndrome
Retinal atrophy, Cataract, Micropenis ORPHA:75858
Majeed Syndrome
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Inflammatory abnormali... ORPHA:77297
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Menorr... OMIM:614076
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Congenital finger flexion contractures, Foot joint contracture, Flexion... ORPHA:536516
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of thrombocytes, Anemia, Petechiae, Extramedullary hematopoiesis, Abnormal bleeding, ... OMIM:612840
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Thoracolumbar scoliosis, Hip contracture, Hyperextensibility of the fin... OMIM:313420
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... OMIM:616689
Werner Syndrome
Increased bone mineral density, Melanoma, Neoplasm, Cutaneous melanoma, Breast carcinoma, Squamou... ORPHA:902
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Congenital Factor Ii Deficiency
Anemia, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracrania... ORPHA:325
Osteopetrosis, Autosomal Dominant 1
Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones, Abnormality... OMIM:607634
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Erythema nodosum, Arthritis, Skin rash, Raynaud phenomenon, Purpura, Eczema, ... OMIM:615688
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98855
Osteogenesis Imperfecta, Type Xiii
Recurrent fractures, Increased bone mineral density, Joint hypermobility, Kyphoscoliosis, Skeleta... OMIM:614856
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Abnormality of retinal pigmentation, Cataract, Nephronophthisis, ... ORPHA:3156
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, ... OMIM:618234
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:243150
Ck Syndrome
Hyperlordosis, Kyphosis, Abnormal cortical bone morphology, Joint hypermobility, Scoliosis OMIM:300831
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Thoracic kyphosis, Increased bone mineral density, Anisospondyly, Sho... ORPHA:163649
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Increased susceptibility to fractures, Kyphosis, Joint laxity, Bruising susceptibility, Premature... OMIM:130060
Laurence-Moon Syndrome
Hypoplasia of penis, Iris coloboma, Cataract, Cryptorchidism, Renal insufficiency, Displacement o... ORPHA:2377
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... OMIM:614074
Nephronophthisis 19
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... OMIM:616217
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98863
Osteogenesis Imperfecta, Type Xvi
Recurrent fractures, Bruising susceptibility, Joint hypermobility, Osteopenia, Decreased calvaria... OMIM:616229
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98853
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Kyphosis, Scoliosis, Abnormality of bone mineral density, Abnormal os... ORPHA:2114
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, External genital hypoplasia, Cataract, Cryptorchidism, Retinal coloboma ORPHA:363741
Dermatosparaxis Ehlers-Danlos Syndrome
Osteomalacia, Rickets, Joint hyperflexibility, Osteopenia, Scoliosis, Prolonged bleeding time, Jo... ORPHA:1901
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to slow healin... OMIM:112250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ... OMIM:606612
Bruck Syndrome 1
Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Kyphosis, Elbow... OMIM:259450
Retinitis Pigmentosa
Optic atrophy, Abnormal testis morphology, Hypogonadism, Hypoplasia of penis, Abnormality of reti... ORPHA:791
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Ascites, Splenomegaly ORPHA:1046
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Pyle Disease
Thin bony cortex, Scoliosis, Platyspondyly, Limited elbow extension, Reduced bone mineral density OMIM:265900
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:614075
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Hematuria, Cataract, Iris coloboma, Corneal opacity, Retina... ORPHA:1473
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Kyphosis, Elbow flexion contracture, Left ventri... OMIM:619040
Fetal Akinesia Deformation Sequence 4
Kyphosis, Camptodactyly, Short neck, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:618393
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count, Hepatosplen... OMIM:259710
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Massively thickened long bone cortices, Increased bone mineral density, ... ORPHA:1798
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis OMIM:241520
Wagr Syndrome
Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Cataract, Cryptorchidism, Displacement of th... ORPHA:893
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Increased variability in muscle fiber diameter, Flexion contracture, Centrally nucleated skeletal... OMIM:618484
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus, Flexion contracture, Kyphosis OMIM:618658
Gorham-Stout Disease
Osteomyelitis, Abnormal bone ossification, Abnormality of the cervical spine, Torticollis, Osteol... ORPHA:73
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Anemia, Thrombocytosis, Iron deficiency anemia, Budd-Chiari syndrome OMIM:226300
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture, Kyphosis OMIM:618237
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology, Retinal detachment ORPHA:190
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... ORPHA:846
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Kyphosis, Spinal rigidity, Scoliosis, Proximal amyotrophy OMIM:617404
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:620010
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopen... OMIM:603552
Albers-Schönberg Osteopetrosis
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... ORPHA:53
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Exostoses of the radius, Increased bone mineral density, Coarse metaphyseal tra... ORPHA:85188
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Leukopenia, Anemia, Cardiac arrest, Dilated cardiomyopathy, Prolonged prothrombin ti... ORPHA:20
Diamond-Blackfan Anemia 1
Reticulocytopenia, Myelodysplasia, Bifid thoracic vertebrae, Congestive heart failure, Hypoplasti... OMIM:105650
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Reduced bone mineral density OMIM:618392
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma OMIM:601794
Immunodeficiency 92
Osteomyelitis, B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B ... OMIM:619652
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Clavicular sclerosis, ... OMIM:144750
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... OMIM:231095
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis ORPHA:1423
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Hepatomegaly, Splenomegaly OMIM:613313
Osteopathia Striata-Cranial Sclerosis Syndrome
Hyperlordosis, Increased bone mineral density, Coarse metaphyseal trabecularization, Spina bifida... ORPHA:2780
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Osteosarcoma, Abnormality of the thenar eminence, Adenocarcin... ORPHA:124
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Fava bean-induced hemolytic anemia OMIM:618660
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Macs Syndrome
Joint laxity, Bruising susceptibility, Joint hypermobility, Scoliosis, Prolonged bleeding time, O... OMIM:613075
Axial Osteomalacia
Increased bone mineral density, Myopathy, Osteomalacia OMIM:109130
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Facial myokymia, Eczema, Kyphosis OMIM:620007
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Dentinogenesis Imperfecta
Finger joint hypermobility, Bruising susceptibility, Joint hypermobility, Knee joint hypermobilit... ORPHA:49042
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Flexion contracture, Kyphosis, Short neck, Minicore myopathy, Scoliosis, Increased endomysial con... ORPHA:178148
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Irregular vertebral endplates, Recurrent fractures, Increased bone mineral density, Coarse metaph... ORPHA:1782
Neuroleptic Malignant Syndrome
Hypotension, Pulmonary embolism, Rhabdomyolysis, Hypertension, Hypertensive crisis, Thrombocytosi... ORPHA:94093
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Lattice retinal degeneration, Cataract, Retinal detachment OMIM:614292
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Abnormality of the cervical spine, Kyphosis, Acute rhabdomyolysis, Scoli... ORPHA:48431
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Facial diplegia, Short neck, Skeletal muscle atrophy, Scoliosis, Arthrogryposis multipl... OMIM:611890
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis ORPHA:2598
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Osteopetrosis, Splenomegaly, Facial palsy OMIM:615085
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Congenital muscular dystrophy, Joint hyperflexibility, Kyphosis ORPHA:1875
Hepatocellular Carcinoma
Hypotension, Anemia, Hepatic necrosis, Polycythemia, Internal hemorrhage, Thrombocytopenia, Neopl... ORPHA:88673
Increased susceptibility to fractures, Spondylolysis, Hyperlordosis, Kyphosis, Coronal craniosyno... ORPHA:763
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphaden... OMIM:615559
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Iris coloboma, Posterior lenticonus, Microcornea ORPHA:231736
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Hypogonadism-Cataract Syndrome
Male hypogonadism, Cataract, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:240950
Metatropic Dysplasia
Flexion contracture, Relatively short spine, Abnormal enchondral ossification, Kyphosis, Caudal a... OMIM:156530
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Scoliosis, Calvarial hyperosto... ORPHA:1310
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Kyphosis, Eczema, Scoliosis, Joint contracture of the 5th finger, ... ORPHA:352490
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility, Short neck,... ORPHA:1486
Splenomegaly, Anemia, Osteomyelitis, Neoplasm of the lung, Arthritis, Abnormal cortical bone morp... ORPHA:2796
Intellectual Disability-Developmental Delay-Contractures Syndrome
Congenital foot contractures, Kyphosis, Limitation of joint mobility, Scoliosis, Distal amyotrophy ORPHA:3454
Myopathy, Centronuclear, 2
Hyperlordosis, Flexion contracture, Centrally nucleated skeletal muscle fibers, Generalized amyot... OMIM:255200
Sandhoff Disease
Splenomegaly, Congestive heart failure, Kyphosis ORPHA:796
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Osteomyelitis, Pruritus, Arthritis, Skin rash, Vasculitis, Abnormal vertebral morphology,... ORPHA:324964
Congenital Rubella Syndrome
Anemia, Aplasia/Hypoplasia of the iris, Jaundice, Abnormality of retinal pigmentation, Cataract, ... ORPHA:290
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Eczema, Eosinophilia, Decreased proportion of CD4-positive helper T cell... OMIM:301000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Congenital muscular dystrophy... OMIM:607155
Uruguay Faciocardiomusculoskeletal Syndrome
Limited elbow movement, Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Hypertroph... OMIM:300280
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Chr... OMIM:608233
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Kyphosis, Platyspondyly ORPHA:2786
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal upper limb amyotrophy, Kyphosis, Scoliosis, Distal lower limb amyotrophy ORPHA:101075
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Beta-Ketothiolase Deficiency
Hypotension, Thrombocytosis, Hypertension, Leukocytosis ORPHA:134
Schwartz-Jampel Syndrome
Wrist flexion contracture, Increased bone mineral density, Short neck, Skeletal muscle hypertroph... ORPHA:800
Persistent Hyperplastic Primary Vitreous
Tractional retinal detachment, Leukocoria, Hyaloid vascular remnant and retrolental mass, Develop... ORPHA:91495
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Weismann-Netter Syndrome
Anemia, Kyphosis, Abnormal cortical bone morphology, Scoliosis, Abnormal form of the vertebral bo... ORPHA:3344
Osteopetrosis, Autosomal Recessive 5
Anemia, Limb hypertonia, Increased bone mineral density, Pancytopenia, Decreased osteoclast count... OMIM:259720
Storage Pool Platelet Disease
Myelodysplasia, Abnormal bleeding, Acute leukemia, Prolonged bleeding time, Decreased mean platel... OMIM:185050
Sialidosis Type 2
Flexion contracture, Kyphosis, Osteoporosis, Skeletal muscle atrophy, Splenomegaly ORPHA:87876
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Macular atrophy, Bone spicule pigmentation of the retina OMIM:618220
Autoimmune Hypoparathyroidism
Increased bone mineral density, Ventricular arrhythmia, Chronic mucocutaneous candidiasis, Prolon... ORPHA:36913
Ullrich Congenital Muscular Dystrophy 1
Increased variability in muscle fiber diameter, Hyperextensibility at wrists, Flexion contracture... OMIM:254090
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Corneal opacity, Hepatomegaly ORPHA:79292
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Kyphosis, Calf muscle hypertrophy, Internally nuc... OMIM:618138
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Sacroiliac arthritis, Septic arthritis, Leukopenia, Anemia, Osteomyelitis, Hip osteoarthritis, Tr... ORPHA:1304
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Scoliosis, Kyphosis, Lumbar hyperlordosis OMIM:616756
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Wolfram Syndrome 1
Megaloblastic anemia, Optic atrophy, Neurogenic bladder, Hydroureter, Sideroblastic anemia, Testi... OMIM:222300
Bruck Syndrome
Recurrent fractures, Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Platyspondyly, Join... ORPHA:2771
Increased mean corpuscular hemoglobin concentration, Anemia, Multiple joint contractures, Thoraci... ORPHA:33364
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis ORPHA:85288
Camurati-Engelmann Disease
Anemia, Increased bone mineral density, Cortical thickening of long bone diaphyses, Diaphyseal sc... OMIM:131300
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... OMIM:256550
Increased susceptibility to fractures, Irregular vertebral endplates, Increased intervertebral sp... OMIM:224300
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Syndromic Diarrhea
Patent ductus arteriosus, Hypoplasia of the thymus, Increased mean platelet volume, Lymphopenia, ... ORPHA:84064
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Hemat... OMIM:203300
Acquired Purpura Fulminans
Macular purpura, Skin rash, Intracranial hemorrhage, Internal hemorrhage, Shock, Neoplasm, Prolon... ORPHA:49566
Galactokinase Deficiency
Hepatosplenomegaly, Cataract, Increased level of galactitol in urine, Nuclear cataract, Hepatomeg... ORPHA:79237
Coloboma, Ocular, Autosomal Dominant
Vesicoureteral reflux, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Frank-Ter Haar Syndrome
Camptodactyly of finger, Kyphosis, Osteolysis, Scoliosis, Beaking of vertebral bodies, Joint stif... ORPHA:137834
Arthrogryposis, Distal, Type 4
Distal arthrogryposis, Lumbar scoliosis, Kyphosis, Torticollis, Camptodactyly, Osteopenia, Campto... OMIM:609128
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Vertebral arch anomaly, Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He... OMIM:194380
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Aminoaciduria, Optic nerve dysplasia, Hypoplasia of the thymus, Jaundice, Polyc... OMIM:214110
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Mitochondrial Dna Depletion Syndrome 11
Kyphosis, Generalized amyotrophy, Spinal rigidity, Neuropathic spinal arthropathy, Dilated cardio... OMIM:615084
Crisponi Syndrome
Camptodactyly of finger, Sudden cardiac death, Flexion contracture, Kyphosis, Limitation of joint... ORPHA:1545
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Scoliosis, Kyphosis ORPHA:101078
Arthritis, Abnormal cortical bone morphology, Eczema, Joint stiffness, Osteoarthritis ORPHA:1525
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Ankylosis, Osteopenia, Osteoporosis OMIM:239000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... ORPHA:171436
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, I... OMIM:227600
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... OMIM:618892
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Flexion contracture, Multiple joint contractures, Kyphosis, Spina bifida occulta, ... OMIM:618291
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Scoliosis, Platyspondyly, Osteoporosis OMIM:234250
Eiken Syndrome
Thin bony cortex, Abnormal bone ossification, Absence of the sacrum, Abnormal trabecular bone mor... ORPHA:79106
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st... OMIM:617394
Osteogenesis Imperfecta, Type Ix
Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Multiple prenatal fract... OMIM:259440
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Kyphosis, Skeletal muscle atrophy, Scoliosis, Platyspondyly OMIM:230650
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Cervical spinal canal stenosis, Scoliosis, Kyphosis OMIM:301900
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration OMIM:193230
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Acquired Von Willebrand Syndrome
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Normocytic anemia, Hypoch... ORPHA:99147
Autosomal Recessive Spastic Paraplegia Type 53
Upper limb hypertonia, Joint hyperflexibility, Kyphosis ORPHA:319199
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus, Thin bony cortex, Sea-blue histiocytosis, Hypoplastic vertebral bodies,... OMIM:230600
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Arthritis, Lymphocytosis, Skin rash, Thrombo... OMIM:301074
Osteogenesis Imperfecta, Type Xxii
Thin bony cortex, Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral frac... OMIM:619795
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Progressive distal muscular atrophy, Peroneal muscle atrophy, Hyperlordos... OMIM:181405
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Abnormal enchondral ossification... ORPHA:93314
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Pelger-Huet Anomaly
Kyphosis, Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Foot dorsifl... OMIM:169400
Proteus-Like Syndrome
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Polycystic ovaries, Re... ORPHA:2969
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... ORPHA:848
Kyphosis, Arthritis, Craniofacial hyperostosis, Macroglossia, Synostosis of joints, Short neck, S... ORPHA:61
Gaucher Disease
Pulmonary arterial hypertension, Splenomegaly, Anemia, Osteomyelitis, Recurrent fractures, Increa... ORPHA:355
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone density with cystic changes, Increased bone mineral density, Diaphysea... ORPHA:94089
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis OMIM:615834
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis ORPHA:276630
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Trichohepatoenteric Syndrome 1
Pulmonic stenosis, Increased mean platelet volume, Aortic regurgitation, Thrombocytosis, Splenome... OMIM:222470
Masa Syndrome
Hyperlordosis, Kyphosis OMIM:303350
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Kyphosis, Generalized amyotrophy, Spinal rigidity, Neuropathic spinal arthropathy, Dilated cardio... ORPHA:352447
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Kyphosis, Increased skull ossification, Diaphyseal sclerosis, Craniofacial osteosclerosis, Platys... OMIM:618476
Cogan Syndrome
Anemia, Large vessel vasculitis, Aortic regurgitation, Thrombocytosis, Leukocytosis, Vasculitis ORPHA:1467
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Scoliosis, Kyphosis, Reduced bone mineral density ORPHA:2617
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the... ORPHA:289176
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Griscelli Syndrome Type 2
Iris hypopigmentation, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, N... ORPHA:79477
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Chronic oral candidiasis, Perianal abscess, Coronal cranio... ORPHA:2968
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Aortic regurgitation, Short neck, Scoliosis, Aortic valve stenosis, Join... OMIM:252605
Arthrogryposis, Distal, Type 5
Congenital finger flexion contractures, Distal arthrogryposis, Decreased muscle mass, Limited wri... OMIM:108145
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasis, Bile duct pr... OMIM:602347
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Calf muscle hypertrophy, Increased bone mineral ... ORPHA:79474
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... OMIM:600785
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis ORPHA:505652
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Nonspherocytic hemolyt... OMIM:235700
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Cryptorchidism ORPHA:1069
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Hypertension, Bruising susceptibility, Skeletal muscle atrophy, Osteopenia, Neoplasm, O... OMIM:219080
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... OMIM:616278
12Q14 Microdeletion Syndrome
Scoliosis, Abnormality of the spleen, Skeletal muscle atrophy, Osteopoikilosis ORPHA:94063
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Azoospermia, Testicular atrophy, Hepatomegaly, Hypogonadotro... OMIM:235200
Multicentric Osteolysis, Nodulosis, And Arthropathy
Wrist flexion contracture, Thin bony cortex, Hip contracture, Metatarsal osteolysis, Camptodactyl... OMIM:259600
Renal-Hepatic-Pancreatic Dysplasia 1
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Renal insufficiency, ... OMIM:208540
Flynn-Aird Syndrome
Kyphosis, Skeletal muscle atrophy, Scoliosis, Bone cyst, Joint stiffness ORPHA:2047
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Kyphosis, Short neck, Osteoporosis, Flexion contrac... ORPHA:3409
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Lim... ORPHA:2658
Patent ductus arteriosus, Increased bone mineral density, Osteopetrosis, Splenomegaly ORPHA:35107
Spastic Paraplegia 53, Autosomal Recessive
Upper limb hypertonia, Joint hyperflexibility, Kyphosis, Lower limb hypertonia OMIM:614898
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Hypogonadism, Increase... ORPHA:231222
Adams-Oliver Syndrome 6
Portal hypertension, Hepatic fibrosis, Renal hypoplasia, Splenomegaly OMIM:616589
Pseudohypoparathyroidism Type 1A
Ectopic ossification, Calcinosis, Hyperostosis frontalis interna, Increased bone mineral density,... ORPHA:79443
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus, Kyphosis, Scoliosis, Hyperextensibility of the finger joints OMIM:619797
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Mucopolysacchariduria, Corneal opac... ORPHA:585
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis, Facial palsy ORPHA:1522
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... OMIM:603909
Paget Disease Of Bone 3
Osteolysis, Osteosarcoma, Patchy osteosclerosis, Fractures of the long bones OMIM:167250
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Weismann-Netter Syndrome
Calvarial hyperostosis, Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Joint stiffness, Scoliosis, Kyphosis ORPHA:1548
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... ORPHA:35909
Spondylolysis, Increased bone mineral density, Spondylolisthesis, Scoliosis, Osteolytic defects o... OMIM:265800
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Left ventricular hypertrophy, Abnorma... ORPHA:335
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension, Biconcave vertebral bodies, Bowing of limbs due to multiple frac... OMIM:259420
Lymphedema-Hypoparathyroidism Syndrome
Pulmonary lymphangiectasia, Cataract, Nephropathy, Hypoparathyroidism, Renal insufficiency OMIM:247410
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Hemat... OMIM:603903
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Ectopic posterior pituitary, Microcornea, Cataract, Cryptorchidism, Micro... OMIM:610125
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Thin bony cortex, Platyspondyly OMIM:619638
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Patent ductus arteriosus, Joint contracture of the hand, Gingival fibromatosis, Generalized osteo... OMIM:602398
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Scoliosis, Telangiectasia of the skin, Joint contracture, Osteoporosis OMIM:615381
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... OMIM:266200
Wieacker-Wolff Syndrome
Hyperlordosis, Congenital foot contractures, Kyphosis, Camptodactyly, Short neck, Scoliosis, Dist... OMIM:314580
Rhizomelic Syndrome, Urbach Type
Kyphosis, Limitation of joint mobility, Short neck, Pulmonic stenosis, Abnormal form of the verte... ORPHA:3098
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Limb muscle weakness, Scoliosis, Lower limb muscle weakness OMIM:614409
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Cataract, Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Generalized joint laxity, Kyphosis, Elbow flexion contracture, Joint laxity, Laryngotracheomalaci... ORPHA:93360
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Scoliosis, Foot dorsiflexor weakness, Kyphosis OMIM:618124
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Skeletal muscle hypertrophy, Kyphosis ORPHA:99014
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Synostosis of carpal bones, Short neck, Scoliosis, Arrhythmia, Acne ORPHA:3191
Marinesco-Sjogren Syndrome
Flexion contracture, Centrally nucleated skeletal muscle fibers, Kyphosis, Myopathy, Skeletal mus... OMIM:248800
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Wieacker-Wolff Syndrome, Female-Restricted
Flexion contracture, Hip contracture, Kyphosis, Achilles tendon contracture, Limited shoulder mov... OMIM:301041
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Cataract, Hypoparathyroidism OMIM:146200
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Increased bone mineral density, Synostosis of carpal bones, Carpal synos... ORPHA:90652
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Norrie Disease
Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Catarac... OMIM:310600
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Fibrous Dysplasia Of Bone
Thin bony cortex, Abnormality of the cervical spine, Thyroid carcinoma, Osteomalacia, Abnormal lu... ORPHA:249
Emanuel Syndrome
Patent ductus arteriosus, Sacral dimple, Chronic oral candidiasis, Kyphosis, Truncus arteriosus, ... OMIM:609029
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Papillorenal Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Retinal coloboma, Lens luxation, Stage 5 chr... OMIM:120330
Gaucher Disease Type 3
Pulmonary arterial hypertension, Increased susceptibility to fractures, Anemia, Increased bone mi... ORPHA:77261
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Thrombocytopenia, Hepatomega... OMIM:619463
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis, Atopic dermatitis ORPHA:3240
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Sclerotic scapulae, Lumbar platyspondyly, Absen... OMIM:601376
Gm1 Gangliosidosis
Camptodactyly of finger, Patent ductus arteriosus, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:354
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrom... OMIM:609049
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Pigmentary retinopathy, Asplenia, Female hypogonadism, Keratoconjunctivitis, Chronic active hepat... OMIM:240300
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Thanatophoric Dysplasia
Patent ductus arteriosus, Kyphosis, Joint hyperflexibility, Abnormal sacroiliac joint morphology,... ORPHA:2655
Interstitial Lung And Liver Disease
Anemia, Thrombocytosis OMIM:615486
Sjögren-Larsson Syndrome
Joint stiffness, Scoliosis, Kyphosis ORPHA:816
Hurler-Scheie Syndrome
Camptodactyly of finger, Pulmonary arterial hypertension, Kyphosis, Aortic regurgitation, Contrac... OMIM:607015
Erdheim-Chester Disease
Anemia, Osteomyelitis, Increased bone mineral density, Skin rash, Congestive heart failure, Osteo... ORPHA:35687
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis ORPHA:85317
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadism, Hypoplasia of penis, Azoospermia, Microcornea, Iris coloboma, Cry... ORPHA:251066
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Mucopolysaccharidosis, Type Vii
Anterior beaking of lumbar vertebrae, Flexion contracture, Kyphosis, Hypoplasia of the odontoid p... OMIM:253220
Pituitary Adenoma 4, Acth-Secreting
Biconcave vertebral bodies, Kyphosis, Purpura, Hypertension, Bruising susceptibility, Ecchymosis,... OMIM:219090
Relapsing Fever
Hypotension, Leukopenia, Anemia, Neutrophilia, Abnormal bleeding, Epistaxis, Prolonged prothrombi... ORPHA:91547
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Kyphosis, Lumbar hyperlordosis, Spinal rigidity, Laryngotrache... ORPHA:94068
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia, Microcornea, Vaginal atresia,... ORPHA:3301
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormality o... ORPHA:1655
Meckel Syndrome
Pancreatic cysts, Asplenia, Urethral atresia, Multicystic kidney dysplasia, Ambiguous genitalia, ... ORPHA:564
Raine Syndrome
Increased bone mineral density, Short neck, Subperiosteal bone formation, Arthrogryposis multiple... OMIM:259775
Schaaf-Yang Syndrome
Flexion contracture, Kyphosis, Camptodactyly, Scoliosis, Arthrogryposis multiplex congenita OMIM:615547
Caroli Disease
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Jaundice, Con... ORPHA:53035
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Epiphyseal stippling, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:277450
Stromme Syndrome
Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, Cataract, Accessory spleen, B... OMIM:243605