Abnormality of the metaphyses

Symptom Information:

Symptom ID: HPO:0000944
Synonyms:
Metaphyseal anomaly [Orphanet:45720]
Quality:
Cross references:
HPO:0100255 "Metaphyseal dysplasia" [Orphanet:45720]
Orphanet:45720 "Metaphyseal anomaly" [Orphanet:45720]
Is a (Direct Parents):
HPO         Abnormality of limb bone morphology
Orphanet Abnormality of the skeletal system
HPO         Abnormality of long bone morphology
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the skeletal system(HPO:0000924)
          Abnormality of skeletal morphology(HPO:0011842)
             Abnormal appendicular skeleton morphology(HPO:0011844)
                Abnormality of limb bone morphology(HPO:0002813)
                   Abnormality of the metaphyses(HPO:0000944)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormality of the metaphyses(HPO:0000944)
MedDRA:
Database Frequency: 141 / 7739
Resource:

All diseases associated with this symptom:

3M syndrome (Orphanet:2616)
Acheiropodia (Orphanet:931)
Achondroplasia (Orphanet:15)
Albers-Schönberg osteopetrosis (Orphanet:53)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Autosomal dominant brachyolmia (Orphanet:93304)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive omodysplasia (Orphanet:93329)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
Blount disease (Orphanet:2768)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Brachydactylous dwarfism, Mseleni type (Orphanet:2619)
Brachyolmia type 1, Hobaek type (Orphanet:93301)
Brachyolmia type 1, Toledo type (Orphanet:93303)
Buschke-Ollendorff syndrome (Orphanet:1306)
Camurati-Engelmann disease (Orphanet:1328)
Cartilage-hair hypoplasia (Orphanet:175)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Chronic recurrent multifocal osteomyelitis (Orphanet:324964)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital rubella syndrome (Orphanet:290)
Cranioectodermal dysplasia (Orphanet:1515)
Craniometaphyseal dysplasia (Orphanet:1522)
Cyprus facial-neuromusculoskeletal syndrome (Orphanet:2674)
Dermatoosteolysis, Kirghizian type (Orphanet:1657)
Desbuquois syndrome (Orphanet:1425)
Diastrophic dwarfism (Orphanet:628)
Dyggve-Melchior-Clausen disease (Orphanet:239)
Dysosteosclerosis (Orphanet:1782)
Dysostosis, Stanescu type (Orphanet:1798)
Dyssegmental dysplasia, Silverman-Handmaker type (Orphanet:1865)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Enchondromatosis (Orphanet:296)
Epimetaphyseal skeletal dysplasia (Orphanet:1819)
Erdheim-Chester disease (Orphanet:35687)
Fibrochondrogenesis (Orphanet:2021)
Fountain syndrome (Orphanet:3219)
Frontometaphyseal dysplasia (Orphanet:1826)
GAPO syndrome (Orphanet:2067)
GM1 gangliosidosis (Orphanet:354)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Goldblatt syndrome (Orphanet:166272)
Hall-Riggs syndrome (Orphanet:2107)
Heart defects - limb shortening (Orphanet:1354)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypocalcemic vitamin D-resistant rickets (Orphanet:93160)
Hypochondroplasia (Orphanet:429)
Hypophosphatasia (Orphanet:436)
Infantile myofibromatosis (Orphanet:2591)
Jeune syndrome (Orphanet:474)
Kniest dysplasia (Orphanet:485)
Kozlowski-Brown-Hardwick syndrome (Orphanet:2352)
Kyphomelic dysplasia (Orphanet:1801)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Leri pleonosteosis (Orphanet:2900)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal chondrodysplasia, Moerman type (Orphanet:1420)
Lethal recessive chondrodysplasia (Orphanet:1423)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Léri-Weill dyschondrosteosis (Orphanet:240)
Majeed syndrome (Orphanet:77297)
Menkes disease (Orphanet:565)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Metachondromatosis (Orphanet:2499)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal anadysplasia (Orphanet:1040)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Metaphyseal chondrodysplasia, Spahr type (Orphanet:2501)
Metaphyseal dysostosis - intellectual deficit - conductive deafness (Orphanet:2502)
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty (Orphanet:2504)
Metatropic dysplasia (Orphanet:2635)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mononen-Karnes-Senac syndrome (Orphanet:2565)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 6 (Orphanet:583)
Multiple epiphyseal dysplasia (Orphanet:251)
Multiple osteochondromas (Orphanet:321)
Myhre syndrome (Orphanet:2588)
Neonatal severe primary hyperparathyroidism (Orphanet:417)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
Omenn syndrome (Orphanet:39041)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Osteocraniostenosis (Orphanet:2763)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Parastremmatic dwarfism (Orphanet:2646)
Platyspondylic dysplasia, Torrance type (Orphanet:85166)
Pseudoachondroplasia (Orphanet:750)
Pseudoleprechaunism syndrome, Patterson type (Orphanet:2976)
Pyle disease (Orphanet:3005)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
SPONASTRIME dysplasia (Orphanet:93357)
Sakati-Nyhan syndrome (Orphanet:3128)
Satoyoshi syndrome (Orphanet:3130)
Schneckenbecken dysplasia (Orphanet:3144)
Schwartz-Jampel syndrome (Orphanet:800)
Short rib-polydactyly syndrome (Orphanet:1505)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short-limb skeletal dysplasia with severe combined immunodeficiency (Orphanet:935)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Shwachman-Diamond syndrome (Orphanet:811)
Spondyloenchondrodysplasia (Orphanet:1855)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia with multiple dislocations (Orphanet:93360)
Spondyloepimetaphyseal dysplasia, Irapa type (Orphanet:93351)
Spondyloepimetaphyseal dysplasia, Missouri type (Orphanet:93356)
Spondyloepimetaphyseal dysplasia, Shohat type (Orphanet:93352)
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia (Orphanet:253)
Spondylometaphyseal dysplasia (Orphanet:254)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Spondylometaphyseal dysplasia, 'corner fracture' type (Orphanet:93315)
Spondylometaphyseal dysplasia, A4 type (Orphanet:168555)
Spondylometaphyseal dysplasia, Kozlowski type (Orphanet:93314)
Spondylometaphyseal dysplasia, Schmidt type (Orphanet:93316)
Spondylometaphyseal dysplasia, Sedaghatian type (Orphanet:93317)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Stüve-Wiedemann syndrome (Orphanet:3206)
Telecanthus - hypertelorism - strabismus - pes cavus (Orphanet:3293)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Thiemann disease, familial form (Orphanet:3314)
Thoracic dysplasia-hydrocephalus syndrome (Orphanet:1861)
Thoracomelic dysplasia (Orphanet:1803)
Torg-Winchester syndrome (Orphanet:3460)
Ulna metaphyseal dysplasia syndrome (Orphanet:1837)
Weaver syndrome (Orphanet:3447)
Wolcott-Rallison syndrome (Orphanet:1667)
X-linked hypophosphatemia (Orphanet:89936)