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Gene: Idh2 MGI:96414

Gene Summary

Name:

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Synonyms:

Idh-2, IDPm

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular volume	Idh2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.01×10^-05
decreased mean corpuscular hemoglobin	Idh2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.44×10^-06
increased hemoglobin content	Idh2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.77×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	50% (1 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	Not available
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 4)
Brain	N/A	homozygote	50% (1 of 2)
Ear	N/A	heterozygote	0.0% (0 of 4)
Ear	N/A	homozygote	0.0% (0 of 2)
Embryo	N/A	heterozygote	100% (4 of 4)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	0.0% (0 of 4)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	0.0% (0 of 4)
Footplate	N/A	homozygote	0.0% (0 of 2)
Forebrain	N/A	heterozygote	0.0% (0 of 4)
Forebrain	N/A	homozygote	50% (1 of 2)
Forelimb	N/A	heterozygote	0.0% (0 of 4)
Forelimb	N/A	homozygote	50% (1 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 4)
Handplate	N/A	homozygote	0.0% (0 of 2)
Head	N/A	heterozygote	75% (3 of 4)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	25% (1 of 4)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	0.0% (0 of 4)
Hindbrain	N/A	homozygote	50% (1 of 2)
Hindlimb	N/A	heterozygote	0.0% (0 of 4)
Hindlimb	N/A	homozygote	50% (1 of 2)
Liver	N/A	heterozygote	0.0% (0 of 4)
Liver	N/A	homozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 4)
Lung	N/A	homozygote	0.0% (0 of 2)
Mandibular process	N/A	heterozygote	0.0% (0 of 4)
Mandibular process	N/A	homozygote	0.0% (0 of 2)
Maxillary process	N/A	heterozygote	0.0% (0 of 4)
Maxillary process	N/A	homozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 4)
Midbrain	N/A	homozygote	50% (1 of 2)
Oral cavity	N/A	heterozygote	0.0% (0 of 4)
Oral cavity	N/A	homozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 4)
Skin	N/A	homozygote	0.0% (0 of 2)
Tail somite	N/A	heterozygote	0.0% (0 of 4)
Tail somite	N/A	homozygote	0.0% (0 of 2)
Tail	N/A	heterozygote	0.0% (0 of 4)
Tail	N/A	homozygote	50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Adult LacZ

LacZ Images Wholemount

16 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by Idh2 mutations

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

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

Human diseases associated with Idh2 (3 diseases)
Human diseases predicted to be associated with Idh2 (687 diseases)

The table below shows human diseases associated to Idh2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ollier Disease	Chondrosarcoma, Joint stiffness, Visceral angiomatosis, Osteolysis, Multiple enchondromatosis, Pl...	ORPHA:296
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Recurrent fractures, Hemangiomatosis...	ORPHA:163634
D-2-Hydroxyglutaric Aciduria 2		OMIM:613657

The table below shows human diseases predicted to be associated to Idh2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral...	OMIM:271530
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ...	ORPHA:2114
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Ollier Disease	Chondrosarcoma, Joint stiffness, Visceral angiomatosis, Osteolysis, Multiple enchondromatosis, Pl...	ORPHA:296
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral...	OMIM:271630
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Abnormal pelvis bone ossification, ...	ORPHA:1426
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, Thickened cortex of long bones	ORPHA:53697
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Advanced ossification of carpal bones, Vertebral wedging	OMIM:617719
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Pyle Disease	Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Thin bony cortex	OMIM:265900
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c...	OMIM:259450
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat...	OMIM:610967
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee...	OMIM:313420
Eiken Syndrome	Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi...	ORPHA:79106
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Limitation of joint mobility, Knee osteoarthritis, Platyspondyly, Hip osteoarthritis,...	ORPHA:2619
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio...	ORPHA:2635
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Irregular vertebral endplates, Platyspondyly, Thor...	OMIM:609223
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Scoliosis, Short neck	OMIM:168400
Proteus Syndrome	Kyphoscoliosis, Facial hyperostosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis...	OMIM:176920
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Osteoarthritis With Mild Chondrodysplasia	Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl...	OMIM:604864
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Joint contracture, Scoliosis	OMIM:611225
Bruck Syndrome	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry...	ORPHA:2771
Hall-Riggs Syndrome	Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scoliosis	OMIM:234250
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Beaking of vertebr...	OMIM:616583
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Multiple small vertebral fractures, Osteoporosis of vertebrae, Platyspondyly	OMIM:156510
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Dysspondyloenchondromatosis	Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Multiple enchondromatosis, Vertebral se...	ORPHA:85198
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis	OMIM:126550
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Osteochondroma, Hip contracture, B-cell lymphoma, Ankle flexion contracture, Burkitt lymphoma, Kn...	OMIM:620232
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky...	OMIM:130060
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Patent ductus arteriosus, Beaking of vert...	OMIM:618961
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Joint stiffness, Hypoplasia of the odo...	ORPHA:750
Weismann-Netter Syndrome	Calvarial hyperostosis, Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Kyphoscoliosis, Joint stiffness, Osteoarthritis, Osteoporosis, Joint con...	OMIM:208230
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thoracic kyphosis, Thin bony cortex	OMIM:619638
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Ovoid vertebral bodies, Osteoporotic tarsals	OMIM:609052
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement	ORPHA:163665
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Geroderma Osteodysplastica	Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnormal form of the vertebral...	ORPHA:2078
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte...	ORPHA:1782
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Platyspondyly, Flexion contracture	ORPHA:157965
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl...	OMIM:144750
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Abnormal enchondral ossification, Hypoplasia of the odont...	OMIM:156530
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Platyspondyly, Osteoporosis	ORPHA:319195
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Platyspondyly, Delayed ossificati...	ORPHA:93346
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Hyperlordosis, Short neck, Delayed epiphyseal ossification, Premature osteoarthriti...	ORPHA:93352
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine	ORPHA:48431
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Scoliosis	OMIM:616471
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Camptodactyly	OMIM:618453
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Limitation of join...	ORPHA:1159
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals	OMIM:269630
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Splenomegaly, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspond...	OMIM:230600
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Microcephalic Primordial Dwarfism, Montreal Type	Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density	ORPHA:2617
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Delayed ossification of carpa...	OMIM:609616
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Ovoid vertebral bodies, Abnormality of the vertebral endplates, Platyspondyly, Delayed pubic bone...	ORPHA:1856
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Joint hypermobility	OMIM:619131
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, Delayed pubic bone o...	OMIM:184250
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification...	ORPHA:163649
Weismann-Netter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortical bone morphology, An...	ORPHA:3344
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Abnormal enchondral ossific...	ORPHA:93314
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal ossification, Pl...	OMIM:602557
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr...	OMIM:231070
Arthrogryposis, Distal, Type 4	Osteopenia, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, ...	OMIM:609128
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Visceral angiomatosis, ...	ORPHA:628
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Recurrent fractures, Hemangiomatosis...	ORPHA:163634
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Short neck, Osteoporosis, Joint hyperflexibility, Platys...	ORPHA:85194
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short neck, Hypoplasia of the odontoid process, Kyphosis,...	OMIM:607326
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Limited hip movem...	ORPHA:99642
Sialidosis Type 2	Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Platyspondyly, Synostosis of carpal b...	ORPHA:93351
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur...	OMIM:166220
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Irregular vertebral endplates,...	OMIM:612350
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Neoplasm, Osteoporosis	OMIM:219080
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Limited elbow movement, Short nec...	ORPHA:94068
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Decreased skull ossification, Short neck	ORPHA:93267
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis	OMIM:618728
Flynn-Aird Syndrome	Kyphosis, Bone cyst, Scoliosis, Joint stiffness	ORPHA:2047
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly	OMIM:184095
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Short neck, Irregular vertebral endplates, Platyspondyly, Delayed ossification of c...	OMIM:618395
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly	OMIM:608361
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m...	OMIM:614856
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Vertebral wedging, Increased susce...	OMIM:610968
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Cantu Syndrome	Ovoid vertebral bodies, Short neck, Patent ductus arteriosus, Cuboid-shaped vertebral bodies, Ost...	OMIM:239850
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Morquio Syndrome C	Platyspondyly	OMIM:252300
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis	ORPHA:85174
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion contracture, Platys...	OMIM:184252
Mucopolysaccharidosis, Type Iva	Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce...	OMIM:253000
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone mineral density, Pl...	OMIM:616507
Frank-Ter Haar Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Beaking of vertebral b...	ORPHA:137834
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Difference Of Sex Development-Intellectual Disability Syndrome	Reduced bone mineral density, Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae	OMIM:230650
Odontochondrodysplasia 1	Biconvex vertebral bodies, Osteoporosis, Coronal cleft vertebrae, Platyspondyly, Delayed ossifica...	OMIM:184260
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy...	OMIM:610915
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Platyspondyly	OMIM:609324
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Kyphoscoliosis, Kyphosis, Delayed epiphyseal ossification, Generalized joint laxity...	ORPHA:93360
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky...	OMIM:177170
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal fractures, Kyphosis, Decr...	OMIM:259420
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Reduced bone mineral density, Joint h...	ORPHA:582
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Platyspondyly, Osteoarthritis	OMIM:271600
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Scoliosis	OMIM:300434
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Shoulder fl...	OMIM:255800
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Platyspondyly, Hypoplasia of the odontoid process	ORPHA:85172
Cole-Carpenter Syndrome 2	Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr...	OMIM:616294
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C...	OMIM:264180
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Osteosclerosis of ribs, Abnor...	ORPHA:174
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Camptodactyly of finger, Short neck, Kyphosis, Osteoporosis, Flexion contrac...	ORPHA:3409
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebr...	ORPHA:168549
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Recurrent fractures, Decreased calvarial ossification, Platyspondyly, Vertebral compr...	OMIM:616229
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Lumbar hyperlordosis, Short neck, Limited elbow extension, Elbow f...	OMIM:607095
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Fetal Akinesia Deformation Sequence 4	Kyphosis, Arthrogryposis multiplex congenita, Camptodactyly, Short neck	OMIM:618393
Alpha-Mannosidosis	Craniofacial hyperostosis, Short neck, Kyphosis, Splenomegaly, Arthritis, Scoliosis, Synostosis o...	ORPHA:61
Kniest Dysplasia	Short neck, Joint stiffness, Hypoplasia of the odontoid process, Delayed epiphyseal ossification,...	ORPHA:485
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ...	OMIM:615290
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef...	OMIM:256050
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Platyspondyl...	OMIM:313400
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Joint hyperflexibility	ORPHA:1875
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Osteoarthritis, Joint stiffness	ORPHA:1345
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Platyspondyly, Scoliosis	OMIM:602271
Sandhoff Disease	Splenomegaly, Kyphosis	ORPHA:796
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Myelodysplasia, Squamous cell c...	ORPHA:2909
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Decreased skull ossification	OMIM:300863
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Zimmermann-Laband Syndrome 3	Kyphosis, Patent ductus arteriosus, Flexion contracture	OMIM:618658
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di...	OMIM:601216
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Platyspondyly, Bowing of limbs due to multiple fractures, Scoliosis, Joint h...	OMIM:615220
Desbuquois Dysplasia 1	Joint laxity, Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific...	OMIM:251450
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di...	OMIM:618476
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis...	ORPHA:77259
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:1548
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Thoracolumbar scoliosis, Craniosynostosis, Short neck, Platyspondyly, Scoliosis, Limi...	OMIM:616723
Congenital Muscular Dystrophy, Ullrich Type	Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Hyperexten...	ORPHA:75840
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Hypoplasia of the odontoid ...	OMIM:253010
Dysostosis, Stanescu Type	Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Massively thicken...	ORPHA:1798
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility...	OMIM:259770
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Kyphoscoliosis, Advanced ossification of carpal bones, Cervical spine i...	OMIM:615349
Heart Defects-Limb Shortening Syndrome	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Kniest Dysplasia	Hip contracture, Short neck, Delayed epiphyseal ossification, Limitation of joint mobility, Coron...	OMIM:156550
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Myelodysplasia, Lymphoma, Finge...	ORPHA:221016
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Platyspondyly, ...	OMIM:271650
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Scoliosis	ORPHA:2598
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Joint contracture, Osteoporosis, Scoliosis	OMIM:615381
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Joint stiffness, Thoracic platyspondyly, Osteoarthritis, Limit...	ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Laryngotracheomalacia, Platyspondyly, Thoracic ...	OMIM:271510
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Joint hyperflexibility	ORPHA:319199
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis...	ORPHA:536516
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytope...	OMIM:242900
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased...	OMIM:224300
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical insta...	OMIM:617425
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Myelodysplasia, Finger symphala...	ORPHA:221008
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hyperlordosis, Hypoplasia of the odontoid process, Osteoporosis, Ivory epiphyses of the phalanges...	OMIM:226980
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Kyphosis, Osteoporosis, Scoliosis, Joint hypermobility	OMIM:619718
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Osteoarthritis, Limitation of jo...	ORPHA:1427
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture	OMIM:618237
Hypophosphatasia, Infantile	Craniosynostosis, Vertebral clefting, Increased susceptibility to fractures, Decreased calvarial ...	OMIM:241500
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Cantú Syndrome	Ovoid vertebral bodies, Short neck, Patent ductus arteriosus, Cuboid-shaped vertebral bodies, Ost...	ORPHA:1517
Fountain Syndrome	Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifi...	ORPHA:3219
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Osteogenesis Imperfecta, Type Ii	Multiple prenatal fractures, Platyspondyly, Recurrent fractures, Absent ossification of calvaria	OMIM:166210
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis, Short neck	OMIM:611890
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia...	OMIM:612394
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Fractured radius, Short neck, Multiple prenatal fractures, Flexion contracture, Platy...	OMIM:616897
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:178148
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Thoracic scoliosis, Generalized joint laxity, Platyspondyly, Decreased ...	OMIM:613848
Autosomal Recessive Stickler Syndrome	Irregular vertebral endplates, Platyspondyly, Joint hyperflexibility	ORPHA:250984
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis, Joint hyperflexibility	ORPHA:90653
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space...	OMIM:607944
Schneckenbecken Dysplasia	Ovoid vertebral bodies, Short neck, Advanced ossification of carpal bones, Advanced tarsal ossifi...	OMIM:269250
Odontochondrodysplasia	Patent ductus arteriosus, Joint hyperflexibility, Platyspondyly, Scoliosis	ORPHA:166272
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Pituitary adenoma, Osteoporosis, Biconcave vertebral bodies, Vertebral compression frac...	OMIM:219090
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Fle...	OMIM:618484
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Joint ...	ORPHA:2655
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short...	ORPHA:457395
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Kyphosis, Bone cyst, Cavernous hemangioma, B...	ORPHA:201
Atelosteogenesis Type I	Abnormal ossification involving the femoral head and neck, Coronal cleft vertebrae, Platyspondyly...	ORPHA:1190
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin platyspondyly, Decreas...	OMIM:151210
Czech Dysplasia	Osteochondroma, Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates,...	OMIM:609162
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Patent ductus arteriosus, Hyperextensibility of the finger joints, Scoliosis	OMIM:619797
Gm1 Gangliosidosis	Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Patent ductus arteriosus, Sple...	ORPHA:354
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion...	OMIM:619040
Shashi-Pena Syndrome	Kyphosis, Patent ductus arteriosus, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:617190
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility	OMIM:614898
Thanatophoric Dysplasia Type 2	Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Joint hyperflexibility, Platysp...	ORPHA:93274
Mucolipidosis Iii Gamma	Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:252605
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Dysplastic sacrum, Severe platyspondyly, Short neck	OMIM:613320
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Abnormal trabecular bone morphology, Osteopetrosis, Anemia	OMIM:612301
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrogryposis ...	ORPHA:352490
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ovoid vertebral bodies, Joint stiffness, Platyspondyly, Scoliosis, Severe platyspondyly	OMIM:608940
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Stickler Syndrome, Type I	Joint stiffness, Kyphosis, Osteoarthritis, Arthritis, Platyspondyly, Morbus Scheuermann, Scoliosi...	OMIM:108300
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosis	OMIM:239000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Camptodactyly of finger, Myelodysplasia, Kyphosis, Scoliosis, Leukemia, Joi...	OMIM:619951
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:816
Becker Nevus Syndrome	Kyphosis, Hamartoma, Spina bifida occulta, Scoliosis	ORPHA:64755
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Renal neoplasm, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid vertebr...	ORPHA:536467
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Multic...	OMIM:223800
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Coronal cleft vertebrae, Platyspondyly, Decreased calvarial ossification,...	OMIM:620076
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia	ORPHA:2169
Trisomy 20P	Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Reduced bon...	ORPHA:261318
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Anterior scalloping of vertebral bodies, Delayed epiphyseal ossification, Cuboid-shap...	OMIM:611717
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:606612
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Scoliosis	ORPHA:1858
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:615834
Myopathy, Centronuclear, 2	Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis	OMIM:255200
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Short neck	OMIM:618958
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Nephroblastoma, Sacral dimple	OMIM:618272
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Decreased calvarial ossification, Platyspondyly, Vertebral wedging	OMIM:617866
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis	ORPHA:1545
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Oste...	OMIM:620351
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis, Joint hyperflexibility	ORPHA:2181
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal form of the verte...	ORPHA:3042
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology	ORPHA:2522
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Pycnodysostosis	Joint laxity, Increased bone mineral density, Hyperlordosis, Kyphosis, Generalized osteosclerosis...	ORPHA:763
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Kyphosis, Scoliosis, Joint hyperflexibility	ORPHA:2479
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Sacral dimple, Lumbar hyperlordosis, Limited elbow movement, Craniosynostosis, Increased interver...	ORPHA:508533
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo...	ORPHA:2789
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Limited elbow extension, Ovoid vertebral bodies	OMIM:608728
Occipital Horn Syndrome	Joint laxity, Pelvic bone exostoses, Kyphosis, Capitate-hamate fusion, Osteoporosis, Bladder carc...	OMIM:304150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis, Elbow flexion contracture	OMIM:618138
Rhizomelic Syndrome, Urbach Type	Kyphosis, Limitation of joint mobility, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Platyspondyly, Scoliosis	OMIM:619269
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Increased susceptibility to...	ORPHA:2769
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Lymphoproliferative disorder, Ovoid vertebral bodies, Short neck, Thrombocy...	ORPHA:1830
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Greenberg Dysplasia	Recurrent fractures, Multiple prenatal fractures, Costal cartilage calcification, Patchy variatio...	OMIM:215140
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Patent ductus arteriosus, Sclerosis of skull base, Scolio...	OMIM:130720
Distal Triplication 15Q	Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contracture, Scoliosis, Camptodacty...	ORPHA:314588
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Dent Disease	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Limited elbow movement, Kyphosis, Scoliosis, Camptodactyly, Camptodactyly of toe,...	OMIM:300280
Ruvalcaba Syndrome	Kyphosis, Limited elbow extension, Scoliosis	OMIM:180870
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Clark-Baraitser syndrome	Joint laxity, Kyphosis, Scoliosis	OMIM:300602
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Baralle-Macken Syndrome	Kyphosis	OMIM:619255
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis	ORPHA:1883
Arthrogryposis, Distal, Type 5	Limited wrist extension, Kyphosis, Distal arthrogryposis, Congenital finger flexion contractures,...	OMIM:108145
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Osteoarthritis, Platyspondyly, Pear-shaped vertebrae, Limited elbo...	OMIM:602111
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Flexion contracture, Premature osteoarthritis, Coronal cleft vertebrae, Pla...	OMIM:215150
Desbuquois Dysplasia 2	Joint laxity, Lumbar hyperlordosis, Short neck, Advanced ossification of carpal bones, Platyspondyly	OMIM:615777
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi...	OMIM:254090
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Recurrent fractures, Joint hypermobility, Short neck, Craniosynostosis, Osteoporosis,...	OMIM:245600
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Multiple joint contractures, Joint hypermobility, Kyphosco...	ORPHA:536471
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contracture, Scoliosis, Arthrogrypo...	OMIM:618291
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Platys...	ORPHA:1860
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Joint stiffness, Hypoplasia of the odon...	OMIM:253220
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis	OMIM:607155
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Synostosis of carpal bones, Scoliosis, Short neck	ORPHA:3191
Schwartz-Jampel Syndrome	Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Shoulder flexion ...	ORPHA:800
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98855
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Hurler Syndrome	Short neck, Joint stiffness, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, C...	OMIM:607014
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Spondyloocular Syndrome	Osteopenia, Vertebral compression fracture, Platyspondyly, Thin bony cortex	OMIM:605822
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon...	ORPHA:98863
Cowden Syndrome 1	Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Menin...	OMIM:158350
Hall-Riggs Syndrome	Platyspondyly, Scoliosis, Joint stiffness	ORPHA:2107
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Joint hypermobility, Thoracolumbar kyphoscoliosis, Platyspondyly	OMIM:618853
Gm1-Gangliosidosis, Type I	Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebra...	OMIM:230500
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Short neck, Kyphosis, Scoliosis, Tracheo...	ORPHA:140
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:612813
19P13.12 Microdeletion Syndrome	Craniosynostosis, Short neck, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	ORPHA:254346
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth...	OMIM:314580
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Kyphosis, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Pl...	ORPHA:198
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Flexion contracture, Platyspondyl...	OMIM:300232
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma, Platyspondyly, Exostoses	OMIM:616482
Spondyloenchondrodysplasia	Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Kyphosis, Ar...	ORPHA:1855
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver...	ORPHA:2916
Cowden Syndrome 5	Kyphosis, Breast carcinoma, Hamartomatous polyposis, Meningioma, Thyroid adenoma, Scoliosis, Subc...	OMIM:615108
Schaaf-Yang Syndrome	Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:615547
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Scoliosis	ORPHA:464282
Cowden Syndrome 6	Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Meningioma, Thyr...	OMIM:615109
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Multiple joint contractures, Thoracolumbar scoliosis, S...	OMIM:265000
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, Kyphosis, Abnormal ...	ORPHA:2311
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short neck, Kyphosis, Achilles tendon contracture, Flexion contracture, Limited ...	OMIM:301041
Mucopolysaccharidosis, Type X	Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Beaking of ver...	OMIM:619698
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Scoliosis	OMIM:609541
Achondroplasia	Lumbar hyperlordosis, Hip joint hypermobility, Kyphosis, Spinal canal stenosis, Thoracolumbar kyp...	ORPHA:15
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Arthrogrypo...	ORPHA:171436
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98853
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Kyphoscoliosis, Osteoporosis, Platyspondyly, Progressive congenital sco...	OMIM:225400
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Smith-Mccort Dysplasia 2	Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Limited elbow exten...	OMIM:615222
Mgat2-Cdg	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Patent ductus a...	ORPHA:79329
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly	OMIM:601356
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Infantile Liver Failure Syndrome 3	Hypoplastic vertebral bodies, Splenomegaly, Beaking of vertebral bodies, Platyspondyly	OMIM:618641
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy...	OMIM:271640
Cdags Syndrome	Kyphosis, Coronal craniosynostosis, Lambdoidal craniosynostosis, Sagittal craniosynostosis	OMIM:603116
Sialidosis Type 1	Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis	ORPHA:93316
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Contracture...	OMIM:618223
Hajdu-Cheney Syndrome	Osteopenia, Recurrent fractures, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent d...	ORPHA:955
Camurati-Engelmann Disease	Hyperlordosis, Kyphosis, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility,...	ORPHA:1328
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly, Limit...	OMIM:271700
Holt-Oram Syndrome	Joint stiffness, Kyphosis, Patent ductus arteriosus, Radioulnar synostosis, Scoliosis	ORPHA:392
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Dyggve-Melchior-Clausen Disease	Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral endplates, Atlantoax...	ORPHA:239
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Microcytic anemia	ORPHA:324737
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Short neck, Cranial hy...	ORPHA:309282
Fibrochondrogenesis 2	Platyspondyly	OMIM:614524
Trisomy 13	Kyphosis, Patent ductus arteriosus, Capillary hemangioma, Scoliosis	ORPHA:3378
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Kyphosis	OMIM:300354
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis	OMIM:128100
Congenital Disorder Of Glycosylation, Type Il	Hepatosplenomegaly, Kyphosis, Short neck	OMIM:608776
Marinesco-Sjogren Syndrome	Kyphosis, Flexion contracture, Scoliosis	OMIM:248800
Poland Syndrome	Short neck, Retinal hamartoma, Kyphosis, Hemivertebrae, Finger symphalangism, Acute leukemia, Red...	ORPHA:2911
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Scoliosis, Joint hypermobility	OMIM:617821
Blomstrand Lethal Chondrodysplasia	Platyspondyly, Synostosis of joints, Increased bone mineral density	ORPHA:50945
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Ruvalcaba Syndrome	Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Synostosis of carpal bones	ORPHA:3121
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Sillence Syndrome	Back pain, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morphology, Intervertebral...	ORPHA:3168
Marfanoid Habitus With Situs Inversus	Kyphosis, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, B-cell lymphoma, Eo...	OMIM:102700
Craniotubular Dysplasia, Ikegawa Type	Increased intervertebral space, Platyspondyly, Sclerosis of skull base, Thin bony cortex	OMIM:619727
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Kyphosis, Cranial hyperostosis, Limitation of joint mobility, Joi...	ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, S...	OMIM:300966
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Joint stiffness, Short neck, Splenomegaly, Kyphosis	ORPHA:583
Alstrom Syndrome	Kyphosis, Hyperostosis frontalis interna, Scoliosis	OMIM:203800
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro...	OMIM:249420
17Q11 Microdeletion Syndrome	Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Osteopor...	ORPHA:97685
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco...	ORPHA:2050
Classic Homocystinuria	Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Scoliosis	ORPHA:394
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Arthrogryposis multiplex congenita, Scoliosis	OMIM:617143
Thanatophoric Dysplasia, Type Ii	Platyspondyly	OMIM:187601
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Contracture of the proximal interphalan...	ORPHA:2232
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibilit...	ORPHA:192
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Lumbar hyperlordosis, Limited hip extension, Decreased hip abduction, Kyphoscoliosis, Short neck,...	OMIM:143095
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi...	OMIM:607015
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Thanatophoric Dysplasia, Type I	Platyspondyly, Severe platyspondyly, Short neck	OMIM:187600
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis	ORPHA:58
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis, Joint stiffness	ORPHA:702
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Joint hyperflexibility, Scoliosis	ORPHA:2616
Lethal Kniest-Like Dysplasia	Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Short neck	ORPHA:2347
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Joint stiffness, Kyphosis, Vertebral segmentation defect, Scoliosis, Synostosis of carpal bones	ORPHA:1005
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Emanuel Syndrome	Sacral dimple, Kyphosis, Patent ductus arteriosus, Joint contracture, Scoliosis, Truncus arteriosus	OMIM:609029
15Q24 Microdeletion Syndrome	Joint laxity, Kyphosis, Scoliosis	ORPHA:94065
Saul-Wilson Syndrome	Irregular vertebral endplates, Platyspondyly, Neutropenia, Hypoplasia of the odontoid process	OMIM:618150
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Joint hypermobility	ORPHA:536532
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Patent ductus arteriosus	OMIM:619909
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Marden-Walker Syndrome	Short neck, Kyphosis, Congenital contracture, Radioulnar synostosis, Scoliosis, Camptodactyly, Jo...	OMIM:248700
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Scoliosis	ORPHA:79107
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move...	OMIM:203500
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ...	OMIM:618050
3C Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Facial hemangioma	ORPHA:7
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Knee flexion contracture	OMIM:603387
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Short neck	ORPHA:3082
Lowe Oculocerebrorenal Syndrome	Osteomalacia, Camptodactyly of finger, Kyphosis, Rickets, Platyspondyly, Scoliosis, Pathologic fr...	OMIM:309000
Lowry-Wood Syndrome	Platyspondyly, Joint stiffness	ORPHA:1824
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Scoliosis	ORPHA:398069
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyphosis, Medu...	ORPHA:77301
Achondroplasia	Lumbar hyperlordosis, Limited hip extension, Generalized joint laxity, Lumbar kyphosis in infancy...	OMIM:100800
Osteoglophonic Dysplasia	Osteopenia, Camptodactyly of finger, Craniosynostosis, Short neck, Increased susceptibility to fr...	OMIM:166250
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Medullary thyroid carcinoma, ...	OMIM:162300
Harrod Syndrome	Kyphosis, Scoliosis, Joint hyperflexibility	ORPHA:2115
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Kyphosis, Flexion contracture, Thrombocytosis	OMIM:212065
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Sponastrime Dysplasia	Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Delayed epiphyseal ossification, Generalized ...	ORPHA:93357
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte...	OMIM:619636
Osteogenesis Imperfecta	Osteopenia, Thrombocytopenia, Cervical kyphosis, Recurrent fractures, Visceral angiomatosis, Kyph...	ORPHA:666
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Kyphosis, Scoliosis	ORPHA:364028
Marfanoid-Progeroid-Lipodystrophy Syndrome	Kyphosis, Craniosynostosis, Hyperextensibility of the finger joints	OMIM:616914
Jaberi-Elahi Syndrome	Kyphosis, Joint hypermobility, Scoliosis, Joint stiffness	OMIM:617988
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Kyphosis, Patent ductus arteriosus, Scoliosis	OMIM:617061
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Advanced ossification of carpal bones, Irregular vertebral endplates, P...	OMIM:610442
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Marshall-Smith Syndrome	Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Recurrent fractu...	OMIM:602535
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly	ORPHA:163966
Wolf-Hirschhorn Syndrome	Sacral dimple, Kyphosis, Osteoporosis, Abnormal form of the vertebral bodies, Abnormality of the ...	ORPHA:280
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Pituitary adenoma	OMIM:300942
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Kyphosis, Capillary hemangioma, Scoliosis, Arthrogryposis multiplex cong...	ORPHA:2215
Distal 16P11.2 Microdeletion Syndrome	Kyphosis	ORPHA:261222
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Myhre Syndrome	Craniofacial hyperostosis, Platyspondyly, Joint stiffness	ORPHA:2588
Cleidocranial Dysplasia 1	Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S...	OMIM:119600
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Scoliosis	ORPHA:90322
Platyspondylic Dysplasia, Torrance Type	Platyspondyly	ORPHA:85166
Fibrochondrogenesis 1	Short neck, Platyspondyly, Camptodactyly, Joint contracture of the hand, Posterior vertebral hypo...	OMIM:228520
Stickler Syndrome	Kyphosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Reduced b...	ORPHA:828
Proteus Syndrome	Neoplasm of the thymus, Abnormal form of the vertebral bodies, Neoplasm of the central nervous sy...	ORPHA:744
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis	OMIM:618443
Prader-Willi Syndrome	Osteopenia, Kyphosis, Osteoporosis, Scoliosis	OMIM:176270
Oculocerebrorenal Syndrome Of Lowe	Benign neoplasm of the central nervous system, Osteomalacia, Recurrent fractures, Joint stiffness...	ORPHA:534
Koolen-De Vries Syndrome	Vertebral fusion, Kyphosis, Joint hyperflexibility, Vertebral segmentation defect, Scoliosis	ORPHA:96169
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short neck, Hypoplasia of the odontoid process, Atlantoaxial instability, Elbow flexion contractu...	OMIM:271665
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgin...	OMIM:300106
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Elbow flexion contracture, Finger joint hypermobility, Scoliosis	OMIM:618493
Neurofibromatosis Type 1	Astrocytoma, Recurrent fractures, Joint stiffness, Kyphosis, Chronic myelogenous leukemia, Multip...	ORPHA:636
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Kyphosis, Scoliosis	ORPHA:404440
Mucolipidosis Type Ii	Hip contracture, Craniosynostosis, Limited wrist movement, Kyphosis, Splenomegaly, Limitation of ...	ORPHA:576
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Short neck, Kyphosis, Joint hyperflexibility, Scoliosis	ORPHA:85293
X-Linked Intellectual Disability, Snyder Type	Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Camptodactyly	ORPHA:3063
Noonan Syndrome 14	Kyphosis, Lymphopenia, Limited elbow extension, Short neck	OMIM:619745
Aspartylglucosaminuria	Joint laxity, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutrope...	OMIM:208400
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Cavernous hemangioma of the face, Acute myelomonocytic l...	ORPHA:99646
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis, Coronal craniosynostosis, Tarsal synostosis	ORPHA:85199
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral bodies T12-L3, Hepatosplenomegaly	ORPHA:79255
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Kyphosis, Patent ductus arteriosus, Scoliosis, Joint hypermobili...	OMIM:610443
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis, Splenomegaly, Flexion contracture, Hepatosplenomegaly, Tracheobronchomalacia	OMIM:309900
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Kyphosis, Osteoporosis, Scoliosis, Join...	ORPHA:558
Micro Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:2510
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Delayed epiphyseal ossification, Short neck	OMIM:250220
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Opsismodysplasia	Short neck, Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Scoliosis, Severe p...	OMIM:258480
Fucosidosis	Kyphosis, Anterior beaking of lumbar vertebrae	ORPHA:349
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt...	OMIM:301040
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ovoid vertebral bodies, Scoliosis	ORPHA:85167
Microphthalmia, Lenz Type	Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis	ORPHA:568
Congenital Heart Defects And Skeletal Malformations Syndrome	Kyphosis, Joint hypermobility, Scoliosis, Camptodactyly	OMIM:617602
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Cono-Spondylar Dysplasia	Kyphosis, Scoliosis, Short neck	ORPHA:420794
Weaver Syndrome	Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly, Limited knee extension, Joint contr...	OMIM:277590
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Koolen-De Vries Syndrome Due To A Point Mutation	Joint laxity, Sacral dimple, Testicular neoplasm, Hyperlordosis, Craniosynostosis, Kyphosis, Mela...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint laxity, Sacral dimple, Testicular neoplasm, Hyperlordosis, Craniosynostosis, Kyphosis, Mela...	ORPHA:363958
Basel-Vanagaite-Smirin-Yosef Syndrome	Kyphosis, Scoliosis	OMIM:616449
Cohen Syndrome	Kyphosis, Neutropenia, Scoliosis, Joint hyperflexibility	ORPHA:193
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Bilateral camptodactyly, Scoliosis	OMIM:619557
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Scoliosis	ORPHA:500055
Cardiofacioneurodevelopmental Syndrome	Asplenia, Kyphosis, Camptodactyly	OMIM:619123
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Normochromic anem...	OMIM:615512
Atelis Syndrome 2	Sacral dimple, Kyphosis, Patent ductus arteriosus, Anemia, Thrombocytopenia	OMIM:620185
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Capil...	OMIM:619194
Zttk Syndrome	Craniosynostosis, Kyphosis, Patent ductus arteriosus, Flexion contracture, Hemivertebrae, Scolios...	OMIM:617140
Marshall Syndrome	Platyspondyly, Knee osteoarthritis	OMIM:154780
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis, Camptodactyly	OMIM:616894
2P15P16.1 Microdeletion Syndrome	Kyphosis, Camptodactyly of finger, Scoliosis	ORPHA:261349
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Kyphosis, Abnormal form of the vertebral bodie...	OMIM:194190
Atelosteogenesis, Type I	Short neck, Thoracic platyspondyly, Fused cervical vertebrae, Coronal cleft vertebrae, Vertebral ...	OMIM:108720
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:251014
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Lymphopenia, Knee flexion contracture	OMIM:619708
Myhre Syndrome	Vertebral fusion, Short neck, Joint stiffness, Patent ductus arteriosus, Limitation of joint mobi...	OMIM:139210
Cockayne Syndrome B	Splenomegaly, Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalan...	OMIM:133540
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Gingival fibromatosis, Scoliosis	OMIM:266270
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:476126
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Hyperextensibility of the finger joints, Contractures of the large joints	ORPHA:521426
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Short neck, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Kyphoscoliosis, Short neck, Platyspondyly, Sclerosis of skull base, Spondyloly...	OMIM:304120
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Kyphosis, Patent ductus arteriosus, Scoliosis, Flexion contracture of ...	ORPHA:464311
Fontaine Progeroid Syndrome	Craniosynostosis, Patent ductus arteriosus, Platyspondyly, Scoliosis, Coronal craniosynostosis	OMIM:612289
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Thrombocytopenia, Kyphosis, Decreased hemoglobin concentration, Scoliosis	OMIM:619005
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Contractures of the large joints	OMIM:617527
Basel-Vanagaite-Smirin-Yosef Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Scoliosis	ORPHA:464738
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility	OMIM:211350
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Wrinkly Skin Syndrome	Osteopenia, Kyphosis, Joint hypermobility, Scoliosis	OMIM:278250
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Kyphosis, Osteoporosis, Reduced bone mineral density, Melanoma, Gonadobla...	ORPHA:99413
Turner Syndrome	Osteopenia, Short neck, Kyphosis, Osteoporosis, Reduced bone mineral density, Melanoma, Gonadobla...	ORPHA:881
Mosaic Monosomy X	Osteopenia, Short neck, Kyphosis, Osteoporosis, Reduced bone mineral density, Melanoma, Gonadobla...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Kyphosis, Osteoporosis, Reduced bone mineral density, Melanoma, Gonadobla...	ORPHA:99226
Marden-Walker Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the vertebral bodies, Radiou...	ORPHA:2461
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Hamartoma of tongue	OMIM:263520
Lymphedema-Distichiasis Syndrome	Kyphosis, Patent ductus arteriosus	OMIM:153400
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Kyphosis, Patent ductus arteriosus, Scoliosis, Abnormality of the ce...	ORPHA:464306
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Sotos Syndrome	Joint laxity, Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Ankle flexion contracture, C...	ORPHA:821
Cockayne Syndrome A	Hip contracture, Kyphosis, Splenomegaly, Limitation of joint mobility, Ivory epiphyses of the pha...	OMIM:216400
Autosomal Recessive Robinow Syndrome	Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol...	ORPHA:1507
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Primrose Syndrome	Hip contracture, Joint hypermobility, Kyphosis, Flexion contracture, Osteoporosis, Knee flexion c...	OMIM:259050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Limitation of joint mobility	ORPHA:457359
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Kyphoscoliosis, Kyphosis, Patent ductus arteriosus, Scoliosis, Synostosis of the pr...	OMIM:300967
Smith-Lemli-Opitz Syndrome	Short neck, Facial capillary hemangioma, Kyphosis, Patent ductus arteriosus, Abnormal form of the...	ORPHA:818
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Williams Syndrome	Osteopenia, Joint laxity, Sacral dimple, Increased bone mineral density, Hyperlordosis, Joint sti...	ORPHA:904
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly	ORPHA:93317
Cerebrocostomandibular Syndrome	Tracheomalacia, Kyphosis	ORPHA:1393
Somatomammotropinoma	Kyphosis, Pituitary adenoma, Osteoarthritis, Spinal canal stenosis, Pituitary prolactin cell aden...	ORPHA:314769
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal v...	ORPHA:2273
Cockayne Syndrome Type 3	Splenomegaly, Kyphosis, Flexion contracture, Scoliosis	ORPHA:90324
1P36 Deletion Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Patent ductus arteriosus, Abnormality of the ...	ORPHA:1606
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Joint laxity, Osteomyelitis, Kyphosis, Neurofibroma, Abnormal curvature of the vertebr...	OMIM:619475
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Acromegaly	Kyphosis, Osteoarthritis, Spinal canal stenosis, Pituitary prolactin cell adenoma, Pituitary grow...	ORPHA:963
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Mend Syndrome	Kyphosis, Sacral dimple	ORPHA:401973
Mend Syndrome	Kyphosis, Sacral dimple	OMIM:300960
Coffin-Siris Syndrome 1	Joint laxity, Sacral dimple, Kyphosis, Patent ductus arteriosus, Scoliosis, Hemangioma, Spina bif...	OMIM:135900
Cockayne Syndrome	Splenomegaly, Kyphosis, Contractures of the large joints, Congenital contracture, Scoliosis	ORPHA:191
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Osteoporosis, Platyspondyl...	ORPHA:79318
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Kyphosis, Sacral dimple, Scoliosis	ORPHA:268261
Coffin-Lowry Syndrome	Kyphosis, Hyperextensibility of the finger joints, Scoliosis, Lumbar kyphosis	OMIM:303600
Viss Syndrome	Exostosis of the external auditory canal, Joint laxity, Joint hypermobility, Kyphosis, Patent duc...	OMIM:619472
Branchiooculofacial Syndrome	Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Fusion of middle ear ossicles, Ha...	OMIM:113620
Yunis-Varon Syndrome	Absent sternal ossification, Anterior concavity of thoracic vertebrae, Kyphosis, Decreased calvar...	OMIM:216340
Alström Syndrome	Thoracic scoliosis, Kyphosis, Splenomegaly, Hepatosplenomegaly, Hyperostosis frontalis interna, L...	ORPHA:64
D-2-Hydroxyglutaric Aciduria 2		OMIM:613657

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Idh2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Idh2.

No publications found that use IMPC mice or data for Idh2.

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MGI Allele	Allele Type	Produced
Idh2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Idh2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Idh2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Idh2 MGI:96414

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Adult LacZ

Embryo LacZ

X-ray

Immunophenotyping

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by Idh2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data