Abnormality of the skeletal system
Symptom Information:
Symptom ID: | HPO:0000924 | ||||||
Synonyms: |
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Quality: | |||||||
Cross references: |
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Is a (Direct Parents): | |||||||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the skeletal system(HPO:0000924) MedDRA: |
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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) |