Abnormality of the skeletal system

Symptom Information:

Symptom ID: HPO:0000924
Synonyms:
Skeletal abnormalities [HPO:0000924]
Skeletal anomalies [HPO:0000924]
Bone anomaly [Orphanet:45000]
Skeletal abnormalities [OMIM:Skeletal abnormalities]
Skeletal anomalies [OMIM:Skeletal anomalies]
Anomalies of bones/skeletal anomalies [Orphanet:45000]
Quality:
Cross references:
Orphanet:45000 "Anomalies of bones/skeletal anomalies" [Orphanet:45000]
OMIM: "Skeletal abnormalities" [OMIM:Skeletal abnormalities]
OMIM: "Skeletal anomalies" [OMIM:Skeletal anomalies]
Is a (Direct Parents):
HPO         Abnormality of limb bone
HPO         Abnormality of mandibular symphysis
HPO         Abnormality of cartilage
HPO         Phenotypic abnormality
HPO         Abnormality of hyoid bone
HPO         Abnormality of odontoid tissue
HPO         Abnormality of the periosteum
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
MedDRA:
Database Frequency: 114 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
Absent thumb - short stature - immunodeficiency (Orphanet:2951)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Aplasia cutis - myopia (Orphanet:1117)
Arachnoiditis (Orphanet:137817)
Aspartylglucosaminuria (Orphanet:93)
Autosomal dominant spastic paraplegia type 9 (Orphanet:100990)
Axial mesodermal dysplasia spectrum (Orphanet:1834)
BAND HETEROTOPIA OF BRAIN (OMIM:600348)
Beemer-Ertbruggen syndrome (Orphanet:1237)
Beta-thalassemia (Orphanet:848)
Beta-thalassemia intermedia (Orphanet:231222)
Bifid nose (Orphanet:2695)
Brachydactyly-long thumb syndrome (Orphanet:2946)
Brachytelephalangy - dysmorphism - Kallmann syndrome (Orphanet:1295)
Buschke-Ollendorff syndrome (Orphanet:1306)
CARPAL DISPLACEMENT (OMIM:115400)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CIRCUMVALLATE PLACENTA SYNDROME (OMIM:215550)
Cartilage-hair hypoplasia (Orphanet:175)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Congenital pseudoarthrosis of clavicle (Orphanet:66630)
Congenital trigeminal anesthesia (Orphanet:231013)
DOUBLE NAIL FOR FIFTH TOE (OMIM:126500)
Diabetic embryopathy (Orphanet:1926)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ellis Van Creveld syndrome (Orphanet:289)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Essential thrombocythemia (Orphanet:3318)
Familial benign copper deficiency (Orphanet:1551)
Familial multiple nevi flammei (Orphanet:624)
Familial vesicoureteral reflux (Orphanet:289365)
Gaucher disease (Orphanet:355)
Genochondromatosis type 1 (Orphanet:85197)
Growth hormone insensitivity syndrome (Orphanet:181393)
HYPERVITAMINOSIS A, SUSCEPTIBILITY TO (OMIM:240150)
HYPOURICEMIA, HYPERCALCINURIA, AND DECREASED BONE DENSITY (OMIM:242050)
Hennekam-Beemer syndrome (Orphanet:2135)
Hereditary acrokeratotic poikiloderma, Weary type (Orphanet:2907)
Hereditary persistence of fetal hemoglobin - beta-thalassemia (Orphanet:46532)
Hip dysplasia, Beukes type (Orphanet:2114)
Holoprosencephaly - caudal dysgenesis (Orphanet:2165)
Hurler syndrome (Orphanet:93473)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
IMAGe syndrome (Orphanet:85173)
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUTFRONTOTEMPORAL DEMENTIA 2 (OMIM:615422)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Juvenile polyposis syndrome (Orphanet:2929)
KNUCKLE PADS (OMIM:149100)
Kindler syndrome (Orphanet:2908)
Klippel-Trénaunay syndrome (Orphanet:90308)
LIG4 syndrome (Orphanet:99812)
Letterer-Siwe disease (Orphanet:99870)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
MACROSOMIA ADIPOSA CONGENITA (OMIM:248100)
MEGAEPIPHYSEAL DWARFISM (OMIM:249230)
MONOPHALANGY OF GREAT TOE (OMIM:158100)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Mazabraud syndrome (Orphanet:57782)
Melorheostosis (Orphanet:2485)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephaly - cervical spine fusion anomalies (Orphanet:2522)
Microphthalmia - ankyloblepharon - intellectual deficit (Orphanet:85275)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mucolipidosis type 2 (Orphanet:576)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Multiple intestinal atresia (Orphanet:2300)
NAVICULAR BONE, ACCESSORY (OMIM:161600)
NEPHROSIALIDOSIS (OMIM:256150)
Nail-patella-like renal disease (Orphanet:2613)
Neurofibromatosis type 1 (Orphanet:636)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Osteopetrosis (Orphanet:2781)
PACHYDERMODACTYLY, FAMILIAL (OMIM:600356)
PALMARIS LONGUS MUSCLE, ABSENCE OF (OMIM:167600)
PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF (OMIM:600343)
PEYRONIE DISEASE (OMIM:171000)
PUBIC BONE DYSPLASIA (OMIM:178350)
Pachygyria - intellectual deficit - epilepsy (Orphanet:2798)
Progressive osseous heteroplasia (Orphanet:2762)
Pycnodysostosis (Orphanet:763)
RAYNAUD DISEASE (OMIM:179600)
Recessive aplasia cutis congenita of limbs (Orphanet:1115)
Rothmund-Thomson syndrome (Orphanet:2909)
Rothmund-Thomson syndrome type 1 (Orphanet:221008)
Rothmund-Thomson syndrome type 2 (Orphanet:221016)
Rotor syndrome (Orphanet:3111)
SCAPULA, CONTOUR OF VERTEBRAL BORDER OF (OMIM:181300)
SPINOCEREBELLAR DEGENERATION WITH SLOW EYE MOVEMENTS (OMIM:271322)
Sandhoff disease (Orphanet:796)
Satoyoshi syndrome (Orphanet:3130)
Scheie syndrome (Orphanet:93474)
Severe achondroplasia - developmental delay - acanthosis nigricans (Orphanet:85165)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Sialidosis type 2 (Orphanet:87876)
Sweet syndrome (Orphanet:3243)
THALIDOMIDE SUSCEPTIBILITY (OMIM:273600)
THROMBOCYTOPENIA 3 (OMIM:273900)
THUMBS, CONGENITAL CLASPED (OMIM:314100)
TOE, FIFTH, NUMBER OF PHALANGES IN (OMIM:189000)
TOE, MISSHAPEN (OMIM:189100)
TOES, RELATIVE LENGTH OF FIRST AND SECOND (OMIM:189200)
Tessier number 4 facial cleft (Orphanet:141258)
Torticollis - keloids - cryptorchidism - renal dysplasia (Orphanet:3341)
Tracheobronchomegaly (Orphanet:3347)
Tracheobronchopathia osteochondroplastica (Orphanet:3348)
Tricho-dento-osseous syndrome (Orphanet:3352)
Tricho-odonto-onychial dysplasia (Orphanet:3355)
Van den Bosch syndrome (Orphanet:3417)
Wolfram syndrome, mitochondrial form (OMIM:598500)
Wrinkly skin syndrome (Orphanet:2834)
X-linked cerebral adrenoleukodystrophy (Orphanet:139396)