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 testis morphology Npr3tm1.1(KOMP)Vlcg HOM Early adult 0.00
small testis Npr3tm1.1(KOMP)Vlcg HOM Early adult 0.00
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 1.73×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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 Lateral Orientation

8 Images

Histopathology

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Pseudoepiphysis of the 1st metacarpal, Tall stature, Pseudoepiphyses of the proximal phalanges of... OMIM:619543

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Epiphyseal Chondrodysplasia, Miura Type
Tall stature, Scoliosis, Epiphyseal dysplasia, Arachnodactyly, Long hallux, Broad hallux, Fifth f... OMIM:615923
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Flexion contracture, Short neck OMIM:168400
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Ethanolaminosis
Cardiomegaly OMIM:227150
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me... OMIM:617974
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met... ORPHA:93351
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Dwarfism With Tall Vertebrae
Increased vertebral height, Coxa vara OMIM:126950
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Intellectual Developmental Disorder, Autosomal Dominant 62
Increased arm span, Scoliosis, Disproportionate tall stature, Arachnodactyly OMIM:618793
Winchester Syndrome
Carpal osteolysis, Arthropathy, Broad metacarpals, Kyphosis, Generalized osteoporosis, Osteolysis... OMIM:277950
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos... ORPHA:2114
Sillence Syndrome
Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the... ORPHA:3168
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia OMIM:606996
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Kyphosis, Camptodactyly, Short thumb, Overlapping toe OMIM:618453
Osteomesopyknosis
Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie... ORPHA:2777
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Multiple Epiphyseal Dysplasia Type 5
Genu valgum, Arthralgia of the hip, Intervertebral disk degeneration, Abnormality of the epiphyse... ORPHA:93311
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Short iliac bones, Sclerotic foci of ... OMIM:271530
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Scoliosis, Coxa vara, Ovoid ... OMIM:184255
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Nephronophthisis 1
Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubular basement membrane disintegration, Tubu... OMIM:256100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari... ORPHA:93360
Alpha-2-Deficient Collagen Disease
Arachnodactyly, Disproportionate tall stature OMIM:203760
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate... ORPHA:163665
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Nephronophthisis 9
Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Tall stature, Shoulder dislocation, Scoliosis, Kyphosis, Arachnodactyly, Disproportionate tall st... ORPHA:2181
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Inguinal hernia, Delayed ossification of carpal bones, Kyphosis, Sh... OMIM:618392
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Scoliosis, Thoracic ... OMIM:609223
Tempi Syndrome
Abnormality of the kidney, Polycythemia, Intracranial hemorrhage, Increased hematocrit, Telangiec... ORPHA:284227
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ... OMIM:609616
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... OMIM:614135
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Arachnodactyly, Long toe, Large hands, Thoracic kyphosis OMIM:300263
Erythrocytosis, Familial, 2
Increased red blood cell mass, Hypotension, Pulmonary arterial hypertension, Increased circulatin... OMIM:263400
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Aase-Smith Syndrome
Abnormal hip bone morphology, Scoliosis, Slender finger, Joint stiffness, Camptodactyly of finger... ORPHA:916
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Kyphoscoliosis, Carpal bone hypoplasia, Cone-shaped epiphyses of th... OMIM:184252
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Arachnodactyly, Disproportionate tall stature, Thoracic kyphosis ORPHA:2172
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Haim-Munk Syndrome
Arachnodactyly, Congenital palmoplantar hyperkeratosis, Osteolytic defects of the phalanges of th... OMIM:245010
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... OMIM:609324
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi... OMIM:616583
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Bilateral single transverse palmar creases, Scoliosis, Kyphosis, Joint stiffness, Delayed skeleta... ORPHA:1548
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Coxa vara, Thoracolumbar scoliosis, Thoracic he... OMIM:601344
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type
Arachnodactyly, Disproportionate tall stature, Joint contracture of the 5th finger OMIM:300799
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Autosomal Dominant Brachyolmia
Abnormal metaphysis morphology, Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Spastic Paraplegia 18B, Autosomal Recessive
Scoliosis, Joint contracture, Kyphosis, Ankle clonus OMIM:611225
Bethlem Myopathy 2
Distal joint hypermobility, Scoliosis, Atrophic scars, Scapular winging, Kyphosis, Flexion contra... OMIM:616471
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... ORPHA:85198
Nephronophthisis 4
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c... OMIM:606966
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Eiken Syndrome
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... ORPHA:79106
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... ORPHA:1436
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ... OMIM:618728
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia, Polyhydramnios, Hydroureter, Hyposthenuria, Enuresis nocturna, Hypovolemia,... ORPHA:223
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction ve... OMIM:601382
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Thoracolumbar scoliosis, Protruding ... OMIM:610313
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Joint ... OMIM:618395
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Juvenile Nephropathic Cystinosis
Polydipsia, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration... ORPHA:411634
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Boudin-Mortier Syndrome
Pseudoepiphysis of the 1st metacarpal, Tall stature, Pseudoepiphyses of the proximal phalanges of... OMIM:619543
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Platyspondyly, Metaphyseal cupping, Bowing of the long bones, Hypopla... ORPHA:85166
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Scoliosis, Short metacarpal, Hypoplasia o... OMIM:226900
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Bowing of... ORPHA:2501
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184260
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip con... OMIM:313420
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612925
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612924
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb ... ORPHA:1354
Progressive Pseudorheumatoid Dysplasia
Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints... OMIM:208230
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split foot, Scoliosis, Split hand, Tapered finger OMIM:220600
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch OMIM:271620
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Atrophic scars, Sc... OMIM:130060
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hypercalcemia, Infantile, 2
Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Scoliosis, Elbow flexion contracture, Hyperlordosis, Kyphosis, Hip contracture, Knee flexion cont... OMIM:600175
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612926
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... OMIM:226980
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... ORPHA:166024
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Myocardial infarction, Increased red blood cell count, El... ORPHA:90041
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Kyphoscoliosis, Genu valgum, Small epiphyses, Inguinal hernia, Scoliosis... OMIM:618363
Acute Adrenal Insufficiency
Anorexia, Renal salt wasting, Normocytic anemia, Hyperkalemia, Orthostatic hypotension, Hyperuric... ORPHA:95409
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, U... OMIM:618435
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Ovoid vertebr... OMIM:102370
Mass Syndrome
Arachnodactyly, Scoliosis, Disproportionate tall stature OMIM:604308
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Impaired renal concentrating abi... OMIM:266900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Pulmonary arterial hypertension, Hyperechogen... OMIM:613845
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Dysostosis Multiplex, Ain-Naz Type
Elongated femoral neck, Glenoid fossa hypoplasia, Hypoplastic iliac wing, Scoliosis, Hemivertebra... OMIM:619345
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... ORPHA:239
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the ... ORPHA:99642
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,... ORPHA:3098
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Scoliosis, Bowing of the long bones, Thickened cortex of long bo... ORPHA:53697
Microvillus Inclusion Disease
Nephrocalcinosis, Abnormal renal physiology, Hypovolemia ORPHA:2290
Bruck Syndrome 1
Ankle flexion contracture, Pterygium, Vertebral wedging, Scoliosis, Elbow flexion contracture, Ky... OMIM:259450
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Diastrophic Dysplasia
Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor... OMIM:222600
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... ORPHA:240
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi... ORPHA:93346
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Hip dislocation, Short foot, Talipes equinovarus, Small hand OMIM:300434
Nephronophthisis-Like Nephropathy 2
Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney disease, Re... OMIM:619468
Spondylocamptodactyly Syndrome
Platyspondyly, Camptodactyly of finger, Scoliosis ORPHA:3180
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Scoliosis, Wormian bones, Kyphosis, Decreased calvarial ossification, Multip... OMIM:259440
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Tall stature, Thoracolumbar kyphosis OMIM:236660
Bruck Syndrome
Pterygium, Scoliosis, Wormian bones, Bowing of the long bones, Kyphosis, Osteoporosis, Joint stif... ORPHA:2771
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, S... OMIM:618167
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Shoulder muscle hyp... OMIM:184400
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Colchicine Poisoning
Myocarditis, Congestive heart failure, Abnormal blood ion concentration, Hypokalemia, Hypocalcemi... ORPHA:31824
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum OMIM:608361
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... OMIM:610017
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Vertebral wedging, Hyperextensibility of the finger... OMIM:610967
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Scoliosis, Horizontal sacrum, Calvarial hyperostosis, Kyp... OMIM:112350
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Vertebral segmentation defect OMIM:608681
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Absent distal phalanges, Kypho... OMIM:618658
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Adducted thumb, Scoliosis, Elbow flexion contracture, Kyphosis, Slender finger, ... ORPHA:75840
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Abnormal pinna morphology, Split hand, Ectrodactyly, Finger aplasia, Split f... OMIM:183600
Familial Hypoaldosteronism
Renal salt wasting, Orthostatic hypotension, Hypotension, Hypovolemia, Proximal renal tubular aci... ORPHA:427
Proximal Renal Tubular Acidosis
Polydipsia, Low-molecular-weight proteinuria, Bicarbonaturia, Reduced bone mineral density, Globa... ORPHA:47159
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Tapered finger, Easily subluxated... OMIM:311895
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Scoliosis, Short long bone, Knee dislocation, Lumbar scoliosis, Joint hypermobil... OMIM:620269
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hypospadias, Anemia of inadequate production, Persistence of hemoglob... OMIM:613673
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Kyphosis, Talipes equinovarus ORPHA:85288
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Upper limb amyotrophy, Talipes equinovarus OMIM:617087
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Inguinal hernia, Scoliosis, Short metacarpal, Kyphosis... OMIM:180870
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Cystinosis
Rickets, Polydipsia, Hypokalemia, Nephropathy, Dehydration, Portal hypertension, Failure to thriv... ORPHA:213
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column ORPHA:351
Lamb-Shaffer Syndrome
Optic atrophy, Scoliosis, Low-set ears, Vertebral clefting, Long fingers, Long hallux, Posteriorl... OMIM:616803
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Reduced bone mineral density, Genu valgum, Broad femoral head, Shallow acetabular fos... OMIM:620639
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Ver... ORPHA:2631
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Flared metaphysis, Generalized osteosclerosis, Short ribs, Microme... OMIM:215045
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... OMIM:600384
Aminopterin Syndrome Sine Aminopterin
Inguinal hernia, Umbilical hernia, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Sy... OMIM:600325
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Scoliosis, Prominent fingertip pads, Overgrowth, Pro... OMIM:619721
Leri Pleonosteosis
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal form of ... ORPHA:2900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... ORPHA:2370
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger, Arachnodactyly ORPHA:1883
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Genu valgum, Scoliosis, Metaphyseal wideni... OMIM:265900
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Lysosomal Acid Lipase Deficiency
Renal salt wasting, Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marr... ORPHA:275761
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irregular vertebral endp... OMIM:612847
Intellectual Disability-Developmental Delay-Contractures Syndrome
Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of joint mobi... ORPHA:3454
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Osteochondrosis, Abnormal vertebral morphology, Hamstring contractures, Elbow ank... ORPHA:96183
Smith-Mccort Dysplasia 1
Beaking of vertebral bodies, Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Scoliosis,... OMIM:607326
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Wrist flexion contracture, Congenital finger flexion contractures, Limited knee e... OMIM:121050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... OMIM:618469
Greenberg Dysplasia
Abnormal bone ossification, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificat... ORPHA:1426
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Reduced bone mineral density, Dehydration, Urogenital sinus ano... ORPHA:168558
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Shortening of all middle phalanges of the fingers, Scoliosis, Kyp... OMIM:301900
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Larsen Syndrome
Broad distal phalanx of finger, Craniosynostosis, Large joint dislocations, Finger syndactyly, Sc... ORPHA:503
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Short Stature, Dauber-Argente Type
Osteopenia, Reduced bone mineral density, Decreased fibular diameter, Arachnodactyly, Long finger... OMIM:619489
Steel Syndrome
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Scoliosis, Coxa ... OMIM:615155
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Marburg Hemorrhagic Fever
Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopenia, Lymphopenia, Elevated cir... ORPHA:99826
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... OMIM:309620
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... OMIM:602875
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Hyperkalemia, Reduced bone mineral density, Dehydration, Urogenital sinus ano... ORPHA:289548
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr... ORPHA:1952
Hall-Riggs Syndrome
Scoliosis, Kyphosis, Osteoporosis, Enamel hypoplasia, Metaphyseal dysplasia, Brachydactyly, Irreg... OMIM:234250
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Scoliosis, Kyphosis, Flexion contracture, Joint hypermobility OMIM:618323
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly, Avascular necrosis of the capital femoral epiphysis OMIM:617383
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Ky... OMIM:300718
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Scoliosis, Congenital contracture, Joint stiffness, Camptodactyly of f... ORPHA:115
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Joint stiffness, Arachnodactyly ORPHA:1144
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity, Tapered finger, Short foot OMIM:309585
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Joint hype... OMIM:607095
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta, Brachydactyly ORPHA:2956
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Kyphoscoliosis, Spinal rigidity, Scoliosis, Wrist flexion contracture, Hip contracture, Ankle con... OMIM:620386
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Anauxetic Dysplasia 2
Cubitus valgus, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Hypoplas... OMIM:617396
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif... ORPHA:166011
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... OMIM:250420
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Hyperlordosis, Flat acetab... OMIM:615222
Nephronophthisis 11
Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Renal tubular atrop... OMIM:613550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... OMIM:612350
Bardet-Biedl Syndrome 9
Polydactyly, Polydipsia, Irregular menstruation, Truncal obesity, Postaxial hand polydactyly, Pol... OMIM:615986
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis OMIM:143880
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Dysuria, Uric acid ... ORPHA:976
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Kyphosis, Camptodactyly, Short neck, Arthrogryposis multipl... OMIM:618393
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Inguinal hernia, Scoliosis, Short long bone, Split han... OMIM:252600
Arthrogryposis, Distal, Type 5
Scoliosis, Absent phalangeal crease, Kyphosis, Congenital finger flexion contractures, Decreased ... OMIM:108145
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Tall stature, Increased vertebral height, Scoliosis, Wide femoral metaphysis, Camptodactyly, Camp... OMIM:610474
Renal Hypoplasia
Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
Masa Syndrome
Adducted thumb, Hyperlordosis, Kyphosis, Talipes equinovarus OMIM:303350
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Flat acetabular roof, Bowi... ORPHA:1801
Schneckenbecken Dysplasia
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Bi... OMIM:269250
Becker Nevus Syndrome
Lipoatrophy, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyphosis, Micromelia, Up... ORPHA:64755
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Scoliosis, Kyphosis, Brachydactyly, Hip dysplasia, Short distal phalanx o... ORPHA:1858
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Abnormal form of t... ORPHA:263463
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Obesity, Large hands, Tapered finger ORPHA:276630
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Anemia, Cardiomyopathy, Dehydration, Hyperammonemia, Failure to thrive, Thrombocytopeni... ORPHA:79312
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Arthrogryposis, Distal, Type 4
Osteopenia, Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transverse palmar ... OMIM:609128
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... ORPHA:90650
Kuskokwim Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the patella, Scoliosis, Joint stiffn... ORPHA:1149
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Osteopenia, Flat capital femoral epiphysis, Broad femoral neck, F... ORPHA:157965
Mucolipidosis Type Iii
Reduced bone mineral density, Abnormal hip bone morphology, Inguinal hernia, Abnormal form of the... ORPHA:577
Central Diabetes Insipidus
Polydipsia, Anorexia, Dehydration, Hyponatremia, Failure to thrive, Nocturia, Weight loss ORPHA:178029
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, Limitation of joint m... OMIM:313400
Distal Renal Tubular Acidosis
Polydipsia, Reduced bone mineral density, Decreased glomerular filtration rate, Renal potassium w... ORPHA:18
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Tibial bowing, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-shaped femur... ORPHA:1427
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Scoliosis, Bridged... ORPHA:99330
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Scoliosis, Increased adipose tissue, Hyperlordosis, Kyphosis OMIM:617404
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Scoliosis, Kyphosis, Arachnodactyly, Disproportionate ta... OMIM:609008
Stickler Syndrome, Type I
Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Platyspondyly, Spondylolisthe... OMIM:108300
Cystinosis, Nephropathic
Polydipsia, Generalized aminoaciduria, Renal Fanconi syndrome, Dysphagia, Splenomegaly, Hypophosp... OMIM:219800
Bardet-Biedl Syndrome 17
Polydactyly, Polydipsia, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst,... OMIM:615994
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Erdheim-Chester Disease
Abnormal metaphysis morphology, Polydipsia, Congestive heart failure, Anemia, Increased bone mine... ORPHA:35687
Hypomagnesemia 3, Renal
Polydipsia, Hypertension, Short metacarpal, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chro... OMIM:248250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa... OMIM:611717
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... ORPHA:321
Hyperparathyroidism, Neonatal Severe
Polydipsia, Polyuria, Calcinosis, Anemia, Hypercalciuria, Hyperphosphaturia, Failure to thrive, H... OMIM:239200
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Arrhythmia, Thrombocytopenia, Proteinuria, Micro... ORPHA:54057
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Cone-shaped epiphysis, Osteoporosis, Dentinogenesis imperfecta ORPHA:71267
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Triphalangeal thumb, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger, Ar... ORPHA:2994
Hypophosphatasia, Infantile
Short ribs, Elevated urine pyrophosphate, Short lower limbs, Nephrocalcinosis, Craniosynostosis, ... OMIM:241500
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Single transverse palmar crease, Scoliosis, Kyphosis, Flexion contracture, Short neck, Arthrogryp... ORPHA:178148
Cocaine Intoxication
Prolonged QT interval, Hypertension, Prolonged QRS complex, Diffuse alveolar hemorrhage, Acute ki... ORPHA:90068
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Spondyloepimetaphyseal Dysplasia, Shohat Type
Generalized bone demineralization, Hyperlordosis, Short long bone, Metaphyseal irregularity, Join... ORPHA:93352
Brachyolmia Type 3
Radial deviation of finger, Scoliosis, Kyphosis, Short femoral neck, Platyspondyly, Short neck, P... OMIM:113500
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Vertebral Hypersegmentation And Orofacial Anomalies
Inguinal hernia, Scapular winging, Six lumbar vertebrae, Supernumerary ribs, Joint hypermobility OMIM:619122
Aggressive Systemic Mastocytosis
Anorexia, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Pancytop... ORPHA:98850
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Missing rib... ORPHA:2759
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Large tarsal bones, Flared metaphysis, Short long bone, Aplasia/Hypo... OMIM:215150
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Craniosynostosis, Oligodactyly, Arachnodactyly OMIM:614416
Mucopolysaccharidosis, Type Iva
Hyperlordosis, Kyphosis, Constricted iliac wing, Large elbow, Joint hypermobility, Coxa valga, Ce... OMIM:253000
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Scoliosis, Hyperlordosis, Scapular winging, Kyphosis, Hip contracture, Achilles tendon contractur... OMIM:615290
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of... OMIM:151200
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Intervertebral space narrowing, Irr... OMIM:614078
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Clinodactyly of the 5th finger, Sandal gap, Slender finger, Broad hallux, Overlapping toe, Small ... OMIM:617755
Osteogenesis Imperfecta, Type Iii
Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Biconca... OMIM:259420
Propionic Acidemia
Cerebellar hemorrhage, Increased level of hippuric acid in urine, Anemia, Pancytopenia, Hyperglyc... OMIM:606054
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Wormian bones, Femoral bowing, Thoracic kyphosis, Broad thumb, ... OMIM:619638
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Dehydration, Hyperammonemia, Failure to thrive, Renal insufficiency ORPHA:28
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo... OMIM:618019
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Wormian bones, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth... OMIM:601356
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Scoliosis, Kyphosis, Bilateral talipes equinovarus, Flexion contracture of finger... OMIM:618484
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Femoral bowing, Short metacarpal, Kyphosis, Decreased skull ossification, Multiple... OMIM:610915
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Vertebral wedging, Scoliosis, Biconcave vertebral bodies, Multiple prenat... OMIM:301014
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Congenital finger flexion contractures, Bilateral talipes equinovarus, Joint stiffness, Arachnoda... ORPHA:1154
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Kyphosis, Flexion contracture o... OMIM:619040
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Aminoaciduria, Hemolytic anemia, Reticulocytosis ORPHA:33574
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Platyspondyly, Abnormal femoral neck/... ORPHA:163649
Osteogenesis Imperfecta, Type Xxii
Abnormal blood phosphate concentration, Reduced bone mineral density, Slender long bone, Multiple... OMIM:619795
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Palmoplantar cutis gyrata, Atrophic scars, Arachnodactyly, Flexion contracture, L... ORPHA:75496
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia OMIM:620007
Cdkl5-Deficiency Disorder
Broad proximal phalanges of the hand, Hallux valgus, Scoliosis, Kyphosis ORPHA:505652
Poems Syndrome
Erectile dysfunction, Metaphyseal sclerosis, Clubbing of fingers, Pleural effusion, Sclerosis of ... ORPHA:2905
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Clinodactyly, Thoracic kyphosis, Syndactyly OMIM:619092
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchh... OMIM:256050
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Polyuria, Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic dia... OMIM:620152
Pseudodiastrophic Dysplasia
Platyspondyly, Scoliosis, Phalangeal dislocation, Omphalocele ORPHA:85174
Hyperekplexia 4
Kyphoscoliosis, Inguinal hernia, Camptodactyly, Distal arthrogryposis, Flexion contracture, Umbil... OMIM:618011
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormal to... OMIM:216100
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Arachnodactyly, Disproportionate tall stature, Brachydactyly,... ORPHA:776
Spondylocostal Dysostosis 5
Butterfly vertebrae, Scoliosis, Hemivertebrae, Low back pain, Short neck, Vertebral fusion OMIM:122600
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Scoliosis, Kyphosis, Hearing im... ORPHA:101075
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Achondroplasia
Narrow greater sciatic notch, Cervical spinal canal stenosis, Short proximal phalanx of finger, L... ORPHA:15
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Limitation of joint mobility, Flexion contracture, Hip dislocation ORPHA:171719
Osteogenesis Imperfecta, Type Xiii
Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Platyspondyly, Wide di... OMIM:614856
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Ingu... ORPHA:137834
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Abnormal vertebral morphology ORPHA:2015
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Renal potassium wasting, Polyuria, Nephrocalcinosis, Renal magnesium wasting OMIM:618314
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Platyspondyly, Reduced bone mineral ... ORPHA:582
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Tall stature, Abnormal ovarian physiology, Elevated urinary epinephrine level, Hypernatriuria, Pr... ORPHA:90794
Isolated Permanent Neonatal Diabetes Mellitus
Renal tubular dysfunction, Lower-limb joint contracture, Dehydration, Abnormality of the upper ur... ORPHA:99885
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Distal Duplication 18Q
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Deviation of finger, ... ORPHA:1716
Distal Duplication 15Q
Tall stature, Joint stiffness, Camptodactyly of finger, Arachnodactyly, Short neck ORPHA:1707
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Talipes equinovarus, Scoliosis, Kyphosis, Lumbar hyperlordosis, Hip dislocation OMIM:616756
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology ORPHA:93283
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Scholte Syndrome
Kyphoscoliosis, Acromicria, Patellar hypoplasia, Reduced subcutaneous adipose tissue, Short foot,... OMIM:300977
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Broad thumb, B... ORPHA:3433
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis OMIM:184840
Myopathic Ehlers-Danlos Syndrome
Kyphoscoliosis, Ankle flexion contracture, Foot joint contracture, Congenital bilateral hip dislo... ORPHA:536516
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Rhizomelic Dysplasia, Ain-Naz Type
Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femoral head, Sho... OMIM:619598
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Femur fracture, Sacral dimple, Spina bifida occulta, Single transverse palmar crease, Scoliosis, ... OMIM:618291
Spondylometaphyseal Dysplasia, Schmidt Type
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Kyp... ORPHA:93316
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy... OMIM:271600
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Generalized lipodystrophy, Cubitus valgus, Metaphyseal striations, Conge... OMIM:608154
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Single transverse palmar crease, Scoliosis, Ulnar deviation of the hand or of fin... OMIM:114300
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... OMIM:616000
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Umbilical hernia, Metaphyseal irregularity, Prominent de... OMIM:619636
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... OMIM:186570
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared me... OMIM:615349
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac... ORPHA:2319
Snakebite Envenomation
Acute kidney injury, Neuromuscular dysphagia, Cerebral ischemia, Hypotension, Angioedema, Hyponat... ORPHA:449285
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Osteoporosis, Kyphosis ORPHA:2786