Gene Summary

Name:
natriuretic peptide receptor 3
Synonyms:
lgj,  B430320C24Rik,  longjohn,  NPR-C,  Nppc receptor

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Npr3tm1.1(KOMP)Vlcg HET Early adult 0.00
enlarged heart Npr3tm1.1(KOMP)Vlcg HET Early adult 0.00
increased circulating phosphate level Npr3tm1.1(KOMP)Vlcg HET Early adult 3.63×10-07
small testis Npr3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Npr3tm1.1(KOMP)Vlcg HOM Early adult 0.00

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
Cecum  Section images heterozygote 50% (1 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

66 Images

X-ray

XRay Images Whole Body Dorso Ventral

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

Human diseases caused by Npr3 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.

The table below shows human diseases associated to Npr3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Boudin-Mortier Syndrome
Long hallux, Mallet finger, Tall stature, Arachnodactyly, Pseudoepiphysis of the 1st metacarpal, ... OMIM:619543

The table below shows human diseases predicted to be associated to Npr3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Long hallux, Tall stature, Arachnodactyly, Scoliosis, Finger clinodactyly, ... OMIM:615923
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... OMIM:617719
Ethanolaminosis
Cardiomegaly OMIM:227150
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Limitation of joint mobility, Short metacarpal, Osteoarthritis, Platyspondyly, Microme... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Dwarfism With Tall Vertebrae
Coxa vara, Increased vertebral height OMIM:126950
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Brachydactyly, Bilateral single transverse palmar creases, Scoliosis, Abnormalit... ORPHA:968
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... ORPHA:2114
Intellectual Developmental Disorder, Autosomal Dominant 62
Arachnodactyly, Increased arm span, Scoliosis, Disproportionate tall stature OMIM:618793
Winchester Syndrome
Broad metacarpals, Kyphosis, Generalized osteoporosis, Carpal osteolysis, Arthropathy, Osteolysis... OMIM:277950
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Sillence Syndrome
Platyspondyly, Abnormal vertebral morphology, Large tarsal bones, Back pain, Chess-pawn distal ph... ORPHA:3168
Spondylocostal Dysostosis 6, Autosomal Recessive
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis OMIM:616566
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Senior-Loken Syndrome 4
Anemia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb OMIM:618453
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... OMIM:601668
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Multiple Epiphyseal Dysplasia Type 5
Joint stiffness, Decreased hip abduction, Back pain, Osteoarthritis of the small joints of the ha... ORPHA:93311
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... ORPHA:3246
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Hyposthenuria, Tubulointerstitial fibr... OMIM:256100
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... OMIM:132400
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Hyperconvex verte... OMIM:184255
Alpha-2-Deficient Collagen Disease
Arachnodactyly, Disproportionate tall stature OMIM:203760
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal ilium morphol... ORPHA:163665
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... OMIM:614840
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Kyphoscoliosis, Advanced ossification of carpal b... OMIM:618363
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Cardiomyopathy, Dilated, 1I
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Tall stature, Adducted thumb, Arachnodactyly, Disproportionate tall stature, Scoliosis,... ORPHA:2181
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, St... OMIM:616583
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... OMIM:156530
Tempi Syndrome
Increased hematocrit, Polycythemia, Abnormality of the kidney, Intracranial hemorrhage, Telangiec... ORPHA:284227
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... ORPHA:1570
Testicular Anomalies With Or Without Congenital Heart Disease
Micropenis, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Perineal hypospadias, Mic... OMIM:615542
Erythrocytosis, Familial, 2
Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, Increased ... OMIM:263400
Aase-Smith Syndrome
Joint stiffness, Multiple joint contractures, Talipes equinovarus, Slender finger, Abnormal hip b... ORPHA:916
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Coxa vara, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, H... OMIM:184252
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Arachnodactyly, Thoracic kyphosis, Large hands, Long toe OMIM:300263
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Kyphosis, Disproportionate tall stature OMIM:248760
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum OMIM:615709
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Arachnodactyly, Thoracic kyphosis, Disproportionate tall stature ORPHA:2172
Haim-Munk Syndrome
Tapering pointed ends of distal finger phalanges, Congenital palmoplantar hyperkeratosis, Osteoly... OMIM:245010
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Spinal Dysplasia, Anhalt Type
Coxa vara, Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scolio... OMIM:601344
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... OMIM:609324
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged metaphyses, Irregular ... OMIM:618728
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones OMIM:618392
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Joint stiffness, Arachnodactyly, Bilateral single transverse palmar creases, Scoliosis,... ORPHA:1548
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Abnormal metaphysis morphology ORPHA:93304
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Tubulointerstitial fibrosis, Renal cor... OMIM:606966
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type
Arachnodactyly, Disproportionate tall stature, Joint contracture of the 5th finger OMIM:300799
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Truncal obesity, Scoliosis, Narrow palm OMIM:268050
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Scoliosis, Atrophic scars, Hip dislocation, Scapular winging, Dist... OMIM:616471
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... OMIM:250460
Metatropic Dysplasia
Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger... ORPHA:2635
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... ORPHA:1436
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Brachydactylous Dwarfism, Mseleni Type
Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... ORPHA:2619
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hip contracture, Talipes equinovarus, Scoliosis, Hyperlordosis, Elbow flexion contractu... OMIM:600175
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Charcot-Marie-Tooth Disease, Type 4B1
Talipes equinovarus, Decreased motor nerve conduction velocity, Scoliosis, Abnormal auditory evok... OMIM:601382
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... OMIM:142900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Juvenile Nephropathic Cystinosis
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... ORPHA:411634
Marfanoid Mental Retardation Syndrome, Autosomal
Arachnodactyly, Tall stature OMIM:248770
Nephrogenic Diabetes Insipidus
Failure to thrive, Polydipsia, Hypovolemia, Hyposthenuria, Hydroureter, Hypernatremic dehydration... ORPHA:223
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split hand, Scoliosis, Tapered finger, Split foot OMIM:220600
Crisponi/Cold-Induced Sweating Syndrome 2
Protruding ear, 2-3 toe syndactyly, Lumbar hyperlordosis, Limited elbow extension, Thoracolumbar ... OMIM:610313
Precocious Puberty, Male-Limited
Precocious puberty in males, Decreased testicular size OMIM:176410
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Platyspondyly, Micromelia, Hypoplasia of the... ORPHA:85166
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Scoliosis, Abn... ORPHA:429
Spondylometaphyseal Dysplasia, X-Linked
Enlarged joints, Kyphosis, Hip contracture, Sclerosis of skull base, Hyperextensibility of the fi... OMIM:313420
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Scoliosis OMIM:617087
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Ane... OMIM:612925
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Hip dysplasia, Brachyd... OMIM:226900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Ane... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Ane... OMIM:612926
Progressive Pseudorheumatoid Dysplasia
Joint swelling, Kyphoscoliosis, Coxa vara, Joint stiffness, Enlarged metacarpophalangeal joints, ... OMIM:208230
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... OMIM:604864
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Polyuria, Leukopenia, Hyperechogenic kidneys, Pulmonary arterial hyperten... OMIM:613845
Bruck Syndrome 1
Kyphosis, Coxa vara, Hip contracture, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... OMIM:259450
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Ane... OMIM:612922
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Short long bone, Cost... OMIM:222600
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Small epiphyses, S... OMIM:184260
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte... OMIM:271630
Boudin-Mortier Syndrome
Long hallux, Mallet finger, Tall stature, Arachnodactyly, Pseudoepiphysis of the 1st metacarpal, ... OMIM:619543
Heart Defects-Limb Shortening Syndrome
Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodies, Abnormal r... ORPHA:1354
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Short neck, Abnormality of the ankles, Hypoplasia of the capit... ORPHA:239
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Irregular tarsal ossification, Cone-shaped epiphyses of the phalan... OMIM:226980
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Primary Basilar Invagination
Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine ORPHA:2285
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:2790
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Hip contractur... ORPHA:99642
Arthrogryposis, Distal, Type 2B2
Short toe, Talipes equinovarus, Adducted thumb, Overlapping fingers, Brachydactyly, Tapered finge... OMIM:618435
Renal Glucosuria
Polyuria, Glycosuria, Enuresis nocturna OMIM:233100
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fontanelle, Ompha... OMIM:311300
Dysostosis Multiplex, Ain-Naz Type
Hemivertebrae, Wide humerus, Scoliosis, Glenoid fossa hypoplasia, Elongated femoral neck, Hypopla... OMIM:619345
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Ge... ORPHA:166024
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Mass Syndrome
Arachnodactyly, Scoliosis, Disproportionate tall stature OMIM:604308
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ... OMIM:156510
Microvillus Inclusion Disease
Hypovolemia, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Gaisböck Syndrome
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... ORPHA:90041
Acute Adrenal Insufficiency
Failure to thrive, Decreased female libido, Orthostatic hypotension, Hypovolemia, Salt craving, N... ORPHA:95409
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Abnormal form of ... ORPHA:3104
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Spondylocamptodactyly Syndrome
Camptodactyly of finger, Platyspondyly, Scoliosis ORPHA:3180
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Short neck, Abnormality of the ... ORPHA:3098
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Tall stature OMIM:236660
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Flexion contracture, Congenital hip dislocation, Scoliosis, Overla... OMIM:618291
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Posterior fusion of lumbosacral vertebrae, Joint stiffness, Abnormal form of the vertebral bodies... ORPHA:2064
Split-Hand/Foot Malformation 1
Ectrodactyly, Abnormal pinna morphology, Hand oligodactyly, Split foot, Syndactyly, Broad hallux,... OMIM:183600
Colchicine Poisoning
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Hypovolemia, Dehydrati... ORPHA:31824
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly OMIM:233270
Sprengel Deformity
Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occulta, Cervical segmentation... OMIM:184400
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Platyspondyly, Flat capital femoral epiphysis, Genu varum OMIM:608361
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Scoliosis OMIM:611225
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Short neck, Camptodactyly, Arthrogryposis multiplex congenita, Roc... OMIM:618393
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Talipes equinovarus, Hypopla... ORPHA:93359
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Small hand, Scoliosis, Micromelia, Short phalanx of finger, Limited el... OMIM:180870
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Platy... OMIM:259440
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... ORPHA:93316
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Brachydactyly, Finger symphalangism, Proximal symphalangi... OMIM:610017
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Familial Hypoaldosteronism
Proximal renal tubular acidosis, Orthostatic hypotension, Hypovolemia, Hypotension, Decreased uri... ORPHA:427
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Bruck Syndrome
Kyphosis, Joint stiffness, Recurrent fractures, Talipes equinovarus, Platyspondyly, Scoliosis, Wo... ORPHA:2771
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Polydipsia, Hypokalemia, Aminoaciduria, Reduced bone mineral ... ORPHA:47159
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... ORPHA:93346
Nephronophthisis-Like Nephropathy 2
Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, Stage 5 chron... OMIM:619468
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Micropenis, Splenomegaly,... OMIM:613673
Smith-Mccort Dysplasia 1
Kyphosis, Beaking of vertebral bodies, Metaphyseal irregularity, Multicentric femoral head ossifi... OMIM:607326
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Increased anterior vertebral height, Proximal humeral metaphyseal irregularity, Coxa vara, Delaye... OMIM:183849
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Kyphoscoliosis, Increased bone mineral density, Arachnodactyly, Platyspon... OMIM:614856
Seckel Syndrome 7
Lumbar scoliosis, Clinodactyly, Madelung deformity, Hip dysplasia, Abnormal carpal morphology OMIM:614851
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Kyphoscoliosis, Arthrogryposis multiplex congenita OMIM:212540
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc... OMIM:251450
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Abnormality of the vertebral endplates, Platyspondyly, Irregular epiphyse... ORPHA:1856
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Camptodactyly of finger, Mesomelia, ... ORPHA:2631
Isolated Osteopoikilosis
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Congenital Muscular Dystrophy, Ullrich Type
Kyphosis, Slender finger, Spinal rigidity, Increased laxity of fingers, Adducted thumb, Flexion c... ORPHA:75840
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting OMIM:608681
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Arachnodactyly, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger ORPHA:1883
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Aminopterin Syndrome Sine Aminopterin
Thoracic scoliosis, Joint contracture of the hand, Inguinal hernia, Arachnodactyly, Brachydactyly... OMIM:600325
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... OMIM:615008
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cystinosis
Renal tubular dysfunction, Failure to thrive, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaci... ORPHA:213
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve... OMIM:250215
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Spondylocamptodactyly
Camptodactyly of finger, Cervical platyspondyly, Scoliosis, Camptodactyly OMIM:600000
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Reduced bone mineral density, Scoliosis, Abnormal form of the ver... ORPHA:2370
Leri Pleonosteosis
Joint stiffness, Abnormality of finger, Genu recurvatum, Abnormally straight spine, Camptodactyly... ORPHA:2900
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Narrow greater sci... ORPHA:168549
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Tho... OMIM:309620
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of ... ORPHA:3454
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... OMIM:612847
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... OMIM:130060
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Diastrophic Dysplasia
Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar deviation of finger, Abnorma... ORPHA:628
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... OMIM:156500
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Metaphyseal striations, Short femoral neck,... OMIM:608154
Dyssegmental Dysplasia With Glaucoma
Hip contracture, Delayed epiphyseal ossification, Wide anterior fontanel, Flared metaphysis, Plat... OMIM:601561
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal vertebral morpholog... ORPHA:96183
Lysosomal Acid Lipase Deficiency
Failure to thrive, Vacuolated lymphocytes, Hypovolemia, Hepatosplenomegaly, Cachexia, Abnormal ur... ORPHA:275761
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial polydactyly, Arachnodactyly, ... OMIM:619721
Lamb-Shaffer Syndrome
Overlapping toe, Long hallux, Vertebral clefting, Scoliosis, Long fingers, Optic atrophy, Clinoda... OMIM:616803
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Increased vertebral height, Joint contracture of the hand, Tall stature, Arachnodactyly, Camptoda... OMIM:610474
Osteogenesis Imperfecta, Type V
Recurrent fractures, Dentinogenesis imperfecta, Anterior radial head dislocation, Limited pronati... OMIM:610967
Larsen Syndrome
Vertebral segmentation defect, Large joint dislocations, Short distal phalanx of finger, Laryngot... ORPHA:503
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Long finger... OMIM:619489
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Failure to thrive, Midshaft hypospadias, Reduced bone mineral density, ... ORPHA:168558
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... OMIM:223800
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Cervi... OMIM:301900
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... ORPHA:50809
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Failure to thrive, Midshaft hypospadias, Reduced bone mineral density, ... ORPHA:289548
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Acromesomelic Dysplasia 1
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... OMIM:602875
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coronal cleft vertebrae, Coarse... ORPHA:1952
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Platyspondyly, Scoliosis, Brachyd... OMIM:234250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... OMIM:618469
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypo... OMIM:230650
Congenital Contractural Arachnodactyly
Slender build, Joint stiffness, Flexion contracture, Disproportionate tall stature, Arachnodactyl... ORPHA:115
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Short foot, Tapered finger OMIM:309585
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Inguinal hernia, Narrow greater sciatic notch, Club-shaped p... OMIM:184250
Anauxetic Dysplasia 1
Hip contracture, Short toe, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoax... OMIM:607095
Contractural Arachnodactyly, Congenital
Disproportionate tall stature, Osteopenia, Short neck, Ulnar deviation of finger, Bowing of the l... OMIM:121050
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Widow'S Peak Syndrome
Kyphosis, Inguinal hernia, Recurrent patellar dislocation, Abnormality of the hand, High iliac wi... OMIM:314570
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Tubular basement membrane disintegrati... OMIM:613550
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Short neck, Elevated circulating creatine kinase ... OMIM:300718
Acrodysplasia Scoliosis
Vertebral segmentation defect, Brachydactyly, Scoliosis, Spina bifida occulta ORPHA:2956
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, D... ORPHA:166011
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Joint stiffness ORPHA:1144
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154275
Bardet-Biedl Syndrome 9
Polydipsia, Postaxial polydactyly, Irregular menstruation, Syndactyly, Brachydactyly, Polydactyly... OMIM:615986
Renal Hypoplasia
Chronic kidney disease, Polydipsia, Small for gestational age, Abnormal renal tubule morphology, ... ORPHA:93101
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Trimethylaminuria, Hypertension, Anemia OMIM:602079
Kyphomelic Dysplasia
Joint stiffness, Undulate ribs, Micromelia, Abnormal form of the vertebral bodies, Anterior rib c... ORPHA:1801
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, Flexion contracture, Absent distal phalanx... OMIM:618658
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... ORPHA:1837
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyperlordosis, Short m... OMIM:215150
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Oligodactyly, Craniosynostosis OMIM:614416
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... ORPHA:93356
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Becker Nevus Syndrome
Kyphosis, Rib fusion, Lipoatrophy, Scoliosis, Micromelia, Abnormality of tibia morphology, Spina ... ORPHA:64755
Arthrogryposis, Distal, Type 4
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Camptodactyly of 2nd-... OMIM:609128
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis, Hypoplastic iliac wing, Hip d... ORPHA:1858
Progeroid Facial Appearance With Hand Anomalies
Reduced subcutaneous adipose tissue, Clinodactyly of the 5th finger, Arachnodactyly, Long fingers... OMIM:602249
Kuskokwim Syndrome
Joint stiffness, Aplasia/Hypoplasia of the patella, Scoliosis, Abnormal form of the vertebral bod... ORPHA:1149
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... OMIM:313400
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Short neck, Pl... OMIM:615222
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Scoliosis, Abnormal form of the vertebral b... ORPHA:263463
Masa Syndrome
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis OMIM:303350
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Hypercalcemia, Infantile, 1
Nephrolithiasis, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalciuria, Nephrocalcin... OMIM:143880
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Flexion contracture, Short neck, Cervic... OMIM:617396
Greenberg Dysplasia
Abnormal bone ossification, Anterior rib punctate calcifications, Abnormally ossified vertebrae, ... ORPHA:1426
Bardet-Biedl Syndrome 17
Polydipsia, Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydact... OMIM:615994
Marburg Hemorrhagic Fever
Elevated circulating creatinine concentration, Reticulocytosis, Pericarditis, Back pain, Dehydrat... ORPHA:99826
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis, Tapered finger, Large hands, Obesity ORPHA:276630
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Arthrogryposis, Distal, Type 5
Decreased palmar creases, Bilateral talipes equinovarus, Arachnodactyly, Limited wrist extension,... OMIM:108145
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec... ORPHA:157965
Schneckenbecken Dysplasia
Metaphyseal irregularity, Advanced ossification of carpal bones, Narrow vertebral interpedicular ... OMIM:269250
Metaphyseal Chondrodysplasia, Kaitila Type
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... OMIM:250230
Hyperparathyroidism, Neonatal Severe
Recurrent fractures, Metaphyseal irregularity, Failure to thrive, Hypophosphatemia, Aminoaciduria... OMIM:239200
Ehlers-Danlos Syndrome, Periodontal Type, 1
Tall stature, Generalized joint laxity, Arachnodactyly, Palmoplantar cutis laxa, Scoliosis, Joint... OMIM:130080
Mucolipidosis Type Iii
Joint stiffness, Large iliac wing, Inguinal hernia, Abnormal hip bone morphology, Reduced bone mi... ORPHA:577
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:154276
Insulin-Like Growth Factor I Deficiency
Radial deviation of finger, Sensorineural hearing impairment, Clinodactyly OMIM:608747
49,Xyyyy Syndrome
Generalized joint laxity, Scoliosis, Finger clinodactyly, Short 5th finger, Radioulnar synostosis... ORPHA:99330
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal vertebral morphology, Cutan... OMIM:601829
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Abnormality of the hand, Kyphoscoliosis, Ankle flexion contracture OMIM:616668
Gorlin Syndrome
Arachnodactyly, Hemivertebrae, Vertebral fusion, Scoliosis, Brachydactyly, Palmar pits, Vertebral... ORPHA:377
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Kyphoscoliosis, Advanced ossification of carpal bones, Talipes equinovarus,... OMIM:615349
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Spondylolisthesis, Disproportionate tall ... OMIM:108300
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Hematuria, Myocardial infarction, Renal insufficiency, Acute kidney injury, Proteinur... ORPHA:54057
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... ORPHA:321
Cystinosis, Nephropathic
Polydipsia, Glycosuria, Hematuria, Genu valgum, Proteinuria, Weight loss, Failure to thrive in in... OMIM:219800
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Hyperekplexia 4
Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adducted thumb, Inguinal hernia, Campto... OMIM:618011
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Arachnodactyly, Camptodactyly of finger, Short neck, Triphalangea... ORPHA:2994
Distal Renal Tubular Acidosis
Polydipsia, Decreased glomerular filtration rate, Hypermagnesiuria, Proximal tubulopathy, Renal p... ORPHA:18
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Brachyolmia Type 3
Kyphosis, Short neck, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Proximal femora... OMIM:113500
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Cryptorchidism OMIM:616030
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Metaphyseal sclerosis, Polycythemia, Sclerosis o... ORPHA:2905
Erdheim-Chester Disease
Dysuria, Joint swelling, Polydipsia, Osteomyelitis, Increased bone mineral density, Hypogonadotro... ORPHA:35687
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphy... ORPHA:1427
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Platyspondyly, Dentinogenesis imperfecta, Osteoporosis ORPHA:71267
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Platyspondyly, Short neck, Small epiphyses, Short long bone, Flexion contractur... OMIM:611717
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... ORPHA:90068
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Flexion contracture, Short neck, Scoliosis, Single transverse palmar crease, Clinodacty... ORPHA:178148
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Cubitus valgus, Joint hyperflexibility ORPHA:1875
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Tibial bowing, Dentinogenesis imperfecta, Recurrent fractures, ... OMIM:259420
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th fing... OMIM:263540
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia OMIM:145600
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... ORPHA:370010
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Marfanoid Habitus With Situs Inversus
Kyphosis, Disproportionate tall stature, Arachnodactyly, Hyperextensibility of the finger joints,... OMIM:609008
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Wormian bones, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Br... OMIM:619638
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Flexion contracture, Arachnodactyly, Lipodystrophy, Palmoplantar cutis gyrata, At... ORPHA:75496
Aphalangy With Hemivertebrae
Hemivertebrae, Aplasia of the phalanges of the toes, Aphalangy of hands and feet, Aphalangy of th... OMIM:207620
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Joint stiffness, Interphalangeal joint contra... OMIM:151200
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Overlapping toe, Clinodactyly of the 5th finger, Slender finger, Small hand, Broad hallux, Sandal... OMIM:617755
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Kyphosis, Hip contracture, Talipes equinovarus, Scoliosis, Hyperlordosis, Knee flexion contractur... OMIM:615290
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Aminoaciduria ORPHA:33574
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Osteopenia, Platyspondyly, Decreased calvarial ossification, Femoral retroversion... OMIM:610915
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Talipes equinovarus, Knee flexion contracture, Upper limb amyotrophy, Proximal mu... ORPHA:496689
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... OMIM:601356
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Hypophosphatasia, Infantile
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Platyspondyly,... OMIM:241500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Six lumbar vertebrae, Joint hypermobility, Supernumerary ribs, Scapular winging OMIM:619122
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Inguinal hernia, Bilateral talipes equinovarus, Arachnodactyly, Deviation of finger, Congenital f... ORPHA:1154
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Platyspondyly, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Abnormal circulating calcium concentration, Reduc... OMIM:619795
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Renal magnesium wasting OMIM:618314
Verheij Syndrome
Hemivertebrae, Short neck, Scoliosis, Short 5th finger, Clinodactyly, Hip dislocation, Vertebral ... OMIM:615583
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Thoracic kyphosis, Syndactyly, Clinodactyly OMIM:619092
Propionic Acidemia
Failure to thrive, Hyperglycinuria, Cerebellar hemorrhage, Hyperammonemia, Dehydration, Osteoporo... OMIM:606054
Lujan-Fryns Syndrome
Disproportionate tall stature, Arachnodactyly, Camptodactyly of finger, Brachydactyly, Scoliosis,... ORPHA:776
Acromesomelic Dysplasia 2B
Short metatarsal, Brachydactyly, Short phalanx of finger, Deviation of finger, Rhizomelia, Deform... OMIM:228900
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Lumbar hyperlordosis, Coxa vara, Narro... OMIM:602557
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... OMIM:613686
Scholte Syndrome
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Small hand, Acromicria, Short foot, Patellar... OMIM:300977
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Anterior beaking of lumbar vertebrae, Platyspo... OMIM:253000
Central Diabetes Insipidus
Failure to thrive, Polydipsia, Dehydration, Nocturia, Hyponatremia, Weight loss ORPHA:178029
Mucopolysaccharidosis, Type Ivb
Kyphosis, Pointed proximal second through fifth metacarpals, Constricted iliac wing, Inguinal her... OMIM:253010
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Wide anterior fontanel, Abnormal femoral neck/head morphology, Abnormal bone ossification, Slende... ORPHA:163649
Juberg-Hayward Syndrome
Abnormality of toe, Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia o... OMIM:216100
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hyperammonemia, Dehydration, Renal insufficiency, Anemia ORPHA:28