Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Npr3tm1.1(KOMP)Vlcg HET Early adult 0.00
increased circulating phosphate level Npr3tm1.1(KOMP)Vlcg HET Early adult 1.85×10-06
small testis Npr3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal testis morphology Npr3tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal heart morphology Npr3tm1.1(KOMP)Vlcg HET Early adult 0.00

Download data as:  TSV  XLS

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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 Not available
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 Not available
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 Not available
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
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


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

9 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.

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

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

Disease Similarity of
Matching phenotypes Source
Testicular Torsion
Torsion of appendix of testis, Testicular torsion OMIM:187400
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Epiphyseal Chondrodysplasia, Miura Type
Scoliosis, Finger clinodactyly, Tall stature, Long hallux, Broad hallux, Epiphyseal dysplasia, Ar... OMIM:615923
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Cryptorchidism, Micropenis, Congenital adrenal hypoplasia OMIM:202150
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Scoliosis, Camptodactyly, Joint contracture of the hand, Hammertoe, Arachnodactyly OMIM:211930
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Senior-Loken Syndrome 1
Nephronophthisis, Anemia, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Cardiomegaly OMIM:227150
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Kyphosis, Flattened proximal radial epip... OMIM:271530
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Abnormality o... ORPHA:93351
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Dwarfism With Tall Vertebrae
Coxa vara, Increased vertebral height OMIM:126950
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 1
Increased hematocrit, Increased hemoglobin, Hypertension, Increased red blood cell mass, Myocardi... OMIM:133100
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Scoliosis, Camptodactyly of finger, Arachnodactyly ORPHA:1321
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Vertebral segm... OMIM:609813
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Acromesomelic Dysplasia, Hunter-Thompson Type
Scoliosis, Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped car... ORPHA:968
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Hip Dysplasia, Beukes Type
Scoliosis, Hip dysplasia, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Intellectual Developmental Disorder, Autosomal Dominant 62
Scoliosis, Disproportionate tall stature, Arachnodactyly, Increased arm span OMIM:618793
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Spondylocostal Dysostosis 6, Autosomal Recessive
Scoliosis, Hemivertebrae, Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae OMIM:616566
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, ... OMIM:607095
Symbrachydactyly Of Hands And Feet
Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ... ORPHA:1570
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Camptodactyly, Kyphosis, Short thumb, Clinodactyly of the 5th finger OMIM:618453
Senior-Loken Syndrome 4
Nephronophthisis, Anemia, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Genu valgum, Metaphyseal irregularity, Narrow iliac wing, Irregular vertebral endp... OMIM:601668
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Abnormality of upper limb epiphysis morphology, Multiple small verteb... ORPHA:93311
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul... OMIM:256100
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Kyphosis, Ovoid vertebral bodies... ORPHA:93315
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Alpha-2-Deficient Collagen Disease
Disproportionate tall stature, Arachnodactyly OMIM:203760
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Abnormality of the knee, Abnormal vertebral morphology,... ORPHA:163665
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Spondylometaphyseal Dysplasia, Corner Fracture Type
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Coxa vara, Hyperconvex vertebral bod... OMIM:184255
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... OMIM:151200
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Genu valgum, Hyperlordosis, Amelogenesis imperfecta, Coronal cleft vertebrae, Abnormal... OMIM:618363
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Platyspondyly, Irregularity of vertebral bodies, Genu valgum, Prox... OMIM:609324
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, D... ORPHA:93360
Bethlem Myopathy 2
Scapular winging, Joint laxity, Kyphosis, Flexion contracture, Hip dislocation OMIM:616471
Erythrocytosis, Familial, 2
Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mass, Cerebral ... OMIM:263400
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Scoliosis, Disproportionate tall stature, Kyphosis, Tall stature, Shoulder dislocation, Adducted ... ORPHA:2181
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Ambiguous genitalia, Microphallus, Perineal hypospadias, Testicular dysgenesis, M... OMIM:615542
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Broad toe,... OMIM:609616
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Posterior scalloping of vertebra... OMIM:603546
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Abnormality of the knee, Irregular epiphyses, Irregular vertebral ... OMIM:614135
Tempi Syndrome
Increased hematocrit, Intracranial hemorrhage, Polycythemia, Telangiectasia, Abnormality of the k... ORPHA:284227
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Aase-Smith Syndrome
Scoliosis, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Multiple joint contractures... ORPHA:916
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Disproportionate tall stature, Arachnodactyly, Kyphosis OMIM:248760
Haim-Munk Syndrome
Osteolytic defects of the phalanges of the hand, Arachnodactyly, Tapering pointed ends of distal ... OMIM:245010
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteopor... OMIM:609052
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Thoracic kyphosis, Disproportionate tall stature, Arachnodactyly ORPHA:2172
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Tapered finger, Large hands OMIM:102150
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the small joints of the hand,... OMIM:601344
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Scoliosis, Kyphosis, Bilateral single transverse palmar creases, Joint stiffness, Arachnodactyly,... ORPHA:1548
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Kyphosis, Brachydactyly OMIM:618392
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Charcot-Marie-Tooth Disease, Type 4B1
Scoliosis, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial... OMIM:601382
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type
Disproportionate tall stature, Arachnodactyly, Joint contracture of the 5th finger OMIM:300799
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Retinopathy, Pigmentary, And Mental Retardation
Scoliosis, Truncal obesity, Arachnodactyly, Narrow palm OMIM:268050
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irreg... ORPHA:79106
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metacarpal bones, Hand oligodactyly, Ab... ORPHA:3104
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Hypertension, Thromboc... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Hypertension, Thromboc... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Hypertension, Thromboc... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Hypertension, Thromboc... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Anuria, Hypertension, Thromboc... OMIM:612926
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga OMIM:271620
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Kyphosis, Hip contracture, Knee fle... OMIM:600175
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyphoscoliosis, ... OMIM:277300
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing ... ORPHA:85166
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Intervertebral space narrowing... OMIM:271630
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brachydactyly, Fused cervical ... ORPHA:1436
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Short finger, Kyphosis, Sclerosis of skull base, Thoracolumbar sc... OMIM:313420
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Platyspondyly, Multiple joint dislocation, Joint laxity, Metap... OMIM:618395
Marfanoid Mental Retardation Syndrome, Autosomal
Arachnodactyly, Tall stature OMIM:248770
Crisponi/Cold-Induced Sweating Syndrome 2
Limited elbow extension, Cubitus valgus, 2-3 toe syndactyly, Radial deviation of finger, Lumbar h... OMIM:610313
Bruck Syndrome 1
Scoliosis, Platyspondyly, Osteoporosis, Protrusio acetabuli, Joint laxity, Kyphosis, Coxa vara, P... OMIM:259450
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Abnormal vertebral morp... OMIM:142900
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Hyperlordosis, Metaphyseal chondrodysplasia, Abnormality of epiphysis m... ORPHA:2501
Juvenile Nephropathic Cystinosis
Hypocalcemia, Abnormality of long bone morphology, Elevated circulating creatinine concentration,... ORPHA:411634
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Joint hyperflexibilit... ORPHA:429
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Functional abnormality of... ORPHA:223
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Platyspondyly, Osteoporosis, Enlarged interphalang... OMIM:208230
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Platyspondyly, Hip subluxation, Protrusio acetabuli, Abnormality of the vertebral ... ORPHA:99642
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Scoliosis, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Sh... OMIM:226900
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... ORPHA:93316
Spondylocamptodactyly Syndrome
Scoliosis, Platyspondyly, Camptodactyly of finger ORPHA:3180
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis OMIM:616963
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short middle phalanx of the 2nd finger, Short ... OMIM:156510
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Flat capital femoral epiphysis, Genu varum OMIM:608361
Pyle Disease
Scoliosis, Genu valgum, Platyspondyly, Limited elbow extension, Reduced bone mineral density, Met... OMIM:265900
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Polyuria, Pulmonary arterial hypertension, Renal salt wasting, Thrombocytopenia, Chronic kidney d... OMIM:613845
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hyperlordosis, Genu valgum, Irregular tarsal ossification, Irregular carpal bones, Hip subluxatio... OMIM:226980
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Thoracic kyphosis, Flattened femoral h... ORPHA:93284
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Genu valgum... ORPHA:239
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shorten... ORPHA:1354
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Joint hypermobility, Kyphosis, Flexion contracture, Spinal rigidity OMIM:618323
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Scoliosis, Irregularity of vertebral bodies, Abnormal hip joint morpho... ORPHA:1159
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Kyphosis, Arachnodactyly OMIM:300676
Primary Basilar Invagination
Abnormality of the cervical spine, Short neck, Abnormal vertebral morphology ORPHA:2285
Acromicric Dysplasia
Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Fifth metacar... OMIM:102370
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Adducted thumb, Sandal gap, Brachydactyly, Ulnar deviation of... OMIM:618435
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Dysostosis Multiplex, Ain-Naz Type
Scoliosis, Hypoplastic iliac wing, Hemivertebrae, Flat acetabular roof, Glenoid fossa hypoplasia,... OMIM:619345
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Platyspondyly, Delayed pubic bone ossification, Type E brachydactyly, Abnormal hip... ORPHA:1856
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis, Hypovolemia ORPHA:2290
Acute Adrenal Insufficiency
Renal insufficiency, Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Hyperuricem... ORPHA:95409
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Osteogenesis Imperfecta, Type V
Platyspondyly, Joint hypermobility, Biconcave vertebral bodies, Dentinogenesis imperfecta, Recurr... OMIM:610967
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Dela... OMIM:601561
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Gombo Syndrome
Clinodactyly, Brachydactyly, Radial deviation of finger OMIM:233270
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Tall stature, Kyphoscoliosis OMIM:236660
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebr... ORPHA:2064
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac... OMIM:608728
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Wormian bones, Kyphosis, Beaded ribs, Recurrent fractures, Decreased ca... OMIM:259440
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal irregularity, Joint laxity, Metaphyseal cupping ... OMIM:250460
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, K... OMIM:618291
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Abnormality of the pinna, Clinodactyly, Synda... OMIM:183600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Elevated circulating cr... OMIM:300718
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Leukocytosis, Hypoten... ORPHA:31824
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Bruck Syndrome
Scoliosis, Platyspondyly, Wormian bones, Arthrogryposis multiplex congenita, Osteoporosis, Kyphos... ORPHA:2771
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemivertebrae, Spina bifida ... OMIM:184400
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Preaxial hand polydactyly, Short neck, Wide anterior fontanel, Abnormali... ORPHA:3098
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Kyphosis, Short fo... OMIM:180870
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Hip dysplasia, Limited elbow extension, Dislocated radial head, Scoliosis, Platyspondyly, Joint l... ORPHA:93359
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Rhizomelia, Omphalocele, Tal... ORPHA:85174
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Abnormal hip bone morphology, Abnorm... ORPHA:2725
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension, Renal salt wasting, Proximal renal tubular aci... ORPHA:427
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Kyphosis, Flexion contract... OMIM:618393
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Scoliosis, Split hand, Tapered finger, Split foot OMIM:220600
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Fibular bowing, Horizontal sacrum, Calvarial hyperostos... OMIM:112350
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Delayed pubic bone ossification, Hyperlordosis, Platyspondyly, Genu valgum, Club-shape... OMIM:184250
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Tapered finge... OMIM:311895
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Osteogenesis Imperfecta, Type Xiii
Scoliosis, Joint hypermobility, Osteoporosis, Wormian bones, Dislocated radial head, Platyspondyl... OMIM:614856
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Hip dislocation, Arthrogryposis multiplex congenita, Kyphoscoliosis OMIM:212540
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Arachnodactyly ORPHA:1883
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral segmentation defect, Vertebral clefting, Hemivertebrae OMIM:608681
Aminopterin Syndrome Sine Aminopterin
Umbilical hernia, Rudimentary postaxial polydactyly of hands, Inguinal hernia, Clinodactyly, Synd... OMIM:600325
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Abnormal vertebral morphology, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:93346
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Elbow ankylosis, Kyphoscoliosis, Osteochondrosis, Hamstring contra... ORPHA:96183
Seckel Syndrome 7
Hip dysplasia, Madelung deformity, Lumbar scoliosis, Clinodactyly, Abnormality of the carpal bones OMIM:614851
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Hemolytic-uremic syndrome, Glomeruloneph... OMIM:615008
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Scoliosis, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Genu valgum OMIM:184095
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon... OMIM:600384
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis, Small hand, Short foot, Talipes equinovarus, Hip dislocation OMIM:300434
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Elbow dislocation, Bowing of the lo... ORPHA:2631
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Leri Pleonosteosis
Scoliosis, Cubitus valgus, Camptodactyly of finger, Broad thumb, Abnormality of finger, Elbow dis... ORPHA:2900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Abnormal form of the vertebral bodies, Abnormality of the metacarpal bo... ORPHA:2370
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Kyphosis, Flexion contracture, Hyperextensibility at wrists, Adducted thumb, Increased... ORPHA:75840
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Intellectual Disability-Developmental Delay-Contractures Syndrome
Scoliosis, Congenital foot contractures, Kyphosis, Clinodactyly of the 5th finger, Limitation of ... ORPHA:3454
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Anterior rib pu... ORPHA:1426
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Congenital generalized lipodystrophy, Slender long bones with narrow... OMIM:608154
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Fused cervical vertebrae, Prom... OMIM:309620
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Atrophic scars, Kyphosis, Increased susceptibility to fractures, Congeni... OMIM:130060
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Scoliosis, Hypoplastic sacrum, Platyspondyly, Cone-shaped e... OMIM:304950
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Iliac cres... OMIM:223800
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Hypovolemia, Hypernatriuria... ORPHA:275761
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Flattened epiphysis, Abnormality of the metaphysis, Osteopeni... ORPHA:157965
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Midshaft hypospadias, Urogenital sinus anomaly, Hypovolemia, Hypernatriuria, Hypote... ORPHA:168558
Widow'S Peak Syndrome
Hip osteoarthritis, Kyphosis, Narrow iliac wing, Inguinal hernia, Recurrent patellar dislocation,... OMIM:314570
Schneckenbecken Dysplasia
Anterior rib cupping, Advanced tarsal ossification, Metaphyseal irregularity, Hypoplastic scapula... OMIM:269250
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Lamb-Shaffer Syndrome
Scoliosis, Overlapping toe, Clinodactyly, Long hallux, Vertebral clefting, Long fingers OMIM:616803
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Midshaft hypospadias, Urogenital sinus anomaly, Hypovolemia, Hypernatriuria, Hypote... ORPHA:289548
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Epiphyseal stippling, Abnormal bone ossification, Coronal cleft vertebrae, Bowing of the long bon... ORPHA:1952
Hypophosphatemia, Rickets, Aminoaciduria, Nephropathy, Dehydration, Hypokalemia, Failure to thriv... ORPHA:213
Borjeson-Forssman-Lehmann Syndrome
Shortening of all distal phalanges of the fingers, Scoliosis, Cervical spinal canal stenosis, Wid... OMIM:301900
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Scoliosis, Tarsal synostosis, Absent phalangeal crease, Flexion contracture, Fused thoracic verte... OMIM:618469
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Short 4th ... ORPHA:50809
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Hall-Riggs Mental Retardation Syndrome
Scoliosis, Platyspondyly, Enamel hypoplasia, Osteoporosis, Kyphosis, Irregular vertebral endplate... OMIM:234250
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carpal bones, Bow... ORPHA:90650
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Scoliosis, Increased vertebral height, Camptodactyly of toe, Tall stature, Broad femoral metaphys... OMIM:610474
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Limitation of joint mobility, Abnormal form of the vertebral bodies, Finger syn... ORPHA:2343
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Acrodysplasia Scoliosis
Scoliosis, Brachydactyly, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Joint stiffness ORPHA:1144
Larsen Syndrome
Scoliosis, Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Accessory carpal bones,... ORPHA:503
Kyphomelic Dysplasia
Anterior rib cupping, Abnormal form of the vertebral bodies, Bowing of the long bones, Large hand... ORPHA:1801
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Flared iliac wing, Kyphosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Cone-shaped epiphysis, Dentinogenesis imperfecta ORPHA:71267
Smith-Mccort Dysplasia 2
Genu valgum, Platyspondyly, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, ... OMIM:615222
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Talipes equinovarus... OMIM:618484
Ulna Metaphyseal Dysplasia Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the radius, Abnormality of the metac... ORPHA:1837
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Irregular epiphyses, Kyphosis, Hypoplastic iliac wi... OMIM:313400
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Arachnodactyly OMIM:614416
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polyphagia, Irregular menstruation, Polydactyly, Postaxial polydactyl... OMIM:615986
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Renal corticomedullary cysts, Tubular basement... OMIM:613550
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Platyspondyly, Cigarette-paper scars, Short phal... OMIM:612350
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Joint laxity, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Metaphyse... OMIM:250420
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Genu valgum, Platyspondyly, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Kuskokwim Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the radius, Aplasia/Hypop... ORPHA:1149
Contractural Arachnodactyly, Congenital
Scoliosis, Camptodactyly, Metatarsus adductus, Congenital kyphoscoliosis, Wrist flexion contractu... OMIM:121050
Chst3-Related Skeletal Dysplasia
Scoliosis, Cubitus valgus, Genu valgum, Enlarged joints, Abnormal form of the vertebral bodies, R... ORPHA:263463
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Scoliosis, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Brach... ORPHA:1858
Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ... OMIM:601376
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Zimmermann-Laband Syndrome 3
Absent distal phalanx of the 2nd toe, Kyphosis, Flexion contracture, Aplasia of the distal phalan... OMIM:618658
Hypercalcemia, Infantile, 1
Polyuria, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Nephrocalcinosis, Nephrolithi... OMIM:143880
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Congenital Contractural Arachnodactyly
Scoliosis, Camptodactyly of finger, Slender build, Arthrogryposis multiplex congenita, Disproport... ORPHA:115
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Hypophosphatasia, Infantile
Polyhydramnios, Craniosynostosis, Intracranial hemorrhage, Rachitic rosary, Hypercalciuria, Phosp... OMIM:241500
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal... OMIM:215150
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm, M... ORPHA:168555
Anauxetic Dysplasia 2
Hyperlordosis, Cubitus valgus, Hypoplasia of the femoral head, Ovoid vertebral bodies, Flexion co... OMIM:617396
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Scoliosis, Kyphosis, Small hand, Slender finger, Short foot, Clinodactyly of the 5th finger, Obesity OMIM:618443
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Kyphosis, Large hands, Tapered finger, Obesity ORPHA:276630
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Masa Syndrome
Hyperlordosis, Talipes equinovarus, Kyphosis, Adducted thumb OMIM:303350
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Metaphyseal irregularity, Polyuria, Aminoaciduria, Recurrent... OMIM:239200
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Kyphosis, Upper limb asymmetry, Lipoatrophy, Rib fusi... ORPHA:64755
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Advanced ossification of carpal bones, Joint laxity, Kyphoscoliosis, Flared metaph... OMIM:615349
Arthrogryposis, Distal, Type 5
Scoliosis, Limited wrist extension, Arthrogryposis multiplex congenita, Absent phalangeal crease,... OMIM:108145
Acrofacial Dysostosis, Palagonia Type
Scoliosis, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida occulta at S1, Cutan... OMIM:601829
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Basan Syndrome
Cutaneous syndactyly of toes, Flexion contracture, Tapered finger, Single transverse palmar crease OMIM:129200
Arthrogryposis, Distal, Type 4
Scoliosis, Camptodactyly, Deviation of the 2nd toe, Fibular deviation of toes, Tibial deviation o... OMIM:609128
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Kyphosis, Disproportionate tall stature, S... OMIM:108300
Brachyolmia Type 3
Scoliosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Kyphosis, Radial deviation o... OMIM:113500
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Metaphyseal irregularity, Central vertebral hy... OMIM:602557
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Ehlers-Danlos Syndrome, Periodontal Type, 1
Scoliosis, Joint laxity, Generalized joint laxity, Palmoplantar cutis laxa, Tall stature, Arachno... OMIM:130080
Distal Renal Tubular Acidosis
Hypocitraturia, Hypercalciuria, Dehydration, Increased susceptibility to fractures, Low-molecular... ORPHA:18
Metaphyseal Chondrodysplasia, Kaitila Type
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... OMIM:250230
Gorlin Syndrome
Scoliosis, Palmar pits, Hemivertebrae, Vertebral fusion, Brachydactyly, Arachnodactyly, Vertebral... ORPHA:377
Insulin-Like Growth Factor I Deficiency
Clinodactyly, Sensorineural hearing impairment, Radial deviation of finger OMIM:608747
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Abnormality of the hand, Ankle flexion contracture, Kyphoscoliosis OMIM:616668
Progeroid Facial Appearance With Hand Anomalies
Joint contracture of the 5th finger, Cutaneous finger syndactyly, Reduced subcutaneous adipose ti... OMIM:602249
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Carpal bone hypoplas... OMIM:252600
Atelosteogenesis, Type Ii
Scoliosis, Platyspondyly, Dumbbell-shaped femur, Coronal cleft vertebrae, Hitchhiker thumb, Short... OMIM:256050
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Epiphyseal dysplasia, Premature osteoarthritis, Enlarged epiphyses OMIM:184840
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Osteoa... OMIM:271600
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Platyspondyly, Flattened femoral head, Lumbar hyperlordosis, Clinodactyly, Sensorineural hearing ... OMIM:184000
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Hematuria, Acute kidney injury, Reticulocytosis, T... ORPHA:54057
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Clinodactyly, Short... ORPHA:178148
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Osteogenesis Imperfecta, Type Vi
Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Beaking of vertebral bodies, Coxa ... OMIM:613982
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Short neck, Finger syndactyly, Short distal phalanx of finger, Triphalan... ORPHA:2994
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Long palm, Hemivertebrae, Abnormality of the ribs, Clinoda... ORPHA:2759
49,Xyyyy Syndrome
Large carpal bones, Cubitus valgus, Bridged palmar crease, Scoliosis, Radioulnar synostosis, Fing... ORPHA:99330
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, He... ORPHA:35173
Hyperekplexia 4
Camptodactyly, Flexion contracture, Umbilical hernia, Inguinal hernia, Distal arthrogryposis, Kyp... OMIM:618011
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Cubitus valgus, Kyphosis, Joint hyperflexibility ORPHA:1875
Aphalangy With Hemivertebrae
Aplasia of the phalanges of the toes, Aphalangy of hands and feet, Aphalangy of the hands, Hemive... OMIM:207620
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Abnormality of epiphysis morphology, Kyph... ORPHA:93314
Mucopolysaccharidosis, Type Iva
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Osteoporosis, Constricted iliac wing, Joint... OMIM:253000
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria ORPHA:33574
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Platyspondyly, Kyphosis ORPHA:2786
Brachyolmia, Maroteaux Type
Scoliosis, Platyspondyly, Abnormal form of the vertebral bodies ORPHA:93302
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Osteoarthri... ORPHA:1427
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Synov... OMIM:609655
Poems Syndrome
Clubbing of fingers, Metaphyseal sclerosis, Sclerosis of hand bone, Thrombocytosis, Erectile dysf... ORPHA:2905
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... OMIM:263540
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Biconcave vertebral bodies... OMIM:259420
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Ulnar bowing, Irregular... OMIM:602111
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Wormian bones, Wide anterior fontanel, Shortening of all phalanges of fingers, Mes... OMIM:601356
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Tibial ... ORPHA:457395
Frontometaphyseal Dysplasia 1
Scoliosis, Camptodactyly of finger, Genu valgum, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Bainbridge-Ropers Syndrome
Scoliosis, Disproportionate tall stature, Arachnodactyly OMIM:615485
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly OMIM:222800
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Supraventricular arrhythmia, Hypovolemia,... ORPHA:90068
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, 2-3 toe syndactyly, Clinodactyly, Brachydactyly, Tapered finger OMIM:617061
Erdheim-Chester Disease
Dysuria, Osteolysis, Joint swelling, Abnormality of epiphysis morphology, Pleural effusion, Weigh... ORPHA:35687
Pseudovaginal Perineoscrotal Hypospadias
Cryptorchidism, Ambiguous genitalia, male, Bifid scrotum, Perineal hypospadias, Micropenis, Abnor... OMIM:264600
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short ... OMIM:608940
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Fibular hypoplasia, Absen... OMIM:228900
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion cont... ORPHA:75496
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Joint hyperflexibility, Disproportionate tall stature, Arachn... ORPHA:776
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Overweight, Short 5th metacarpal, 3-4 finger cutane... ORPHA:370010
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Osteogenesis Imperfecta, Type Viii
Radial bowing, Scoliosis, Platyspondyly, Wormian bones, Wide anterior fontanel, Joint laxity, Kyp... OMIM:610915
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Kyphosc... ORPHA:496689
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Congenital finger flexion contractures, Inguinal hernia, Absent palmar crease, Bilateral talipes ... ORPHA:1154
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Thoracic kyphosis, Clinodactyly, Syndactyly, Arachnodactyly OMIM:619092
Verheij Syndrome
Scoliosis, Hemivertebrae, Vertebral fusion, Clinodactyly, Hip dislocation, Short neck, Short 5th ... OMIM:615583
Scholte Syndrome
Acromicria, Short foot, Small hand, Patellar hypoplasia, Kyphoscoliosis, Reduced subcutaneous adi... OMIM:300977
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Vertebral Hypersegmentation And Orofacial Anomalies
Joint hypermobility, Scapular winging, Six lumbar vertebrae, Inguinal hernia, Supernumerary ribs OMIM:619122
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Limb u... OMIM:118651
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
Cystinosis, Nephropathic
Male hypogonadism, Failure to thrive in infancy, Rachitic rosary, Dehydration, Renal insufficienc... OMIM:219800
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Nevus Comedonicus Syndrome
Scoliosis, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxial polydactyly... ORPHA:64754
Oral And Digital Anomalies With Ichthyosis
Tapered finger, Absent distal interphalangeal creases OMIM:258840
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad thumb, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Kyphoscoliosis, B... ORPHA:3433
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Platyspondyly, Abnormal bone ossification, Anisospondyly, ... ORPHA:163649
Mucopolysaccharidosis, Type Ivb
Scoliosis, Genu valgum, Hyperlordosis, Platyspondyly, Osteoporosis, Constricted iliac wing, Joint... OMIM:253010
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Anemia, Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:28
Cyanosis, Transient Neonatal