Abnormal diaphysis morphology

Symptom Information:

Symptom ID: HPO:0000940
Synonyms:
Abnormality of the diaphyses [HPO:0000940]
Diaphyseal anomaly [Orphanet:45840]
Quality:
Cross references:
HPO:0100252 "Diaphyseal dysplasia" [Orphanet:45840]
Orphanet:45840 "Diaphyseal anomaly" [Orphanet:45840]
Is a (Direct Parents):
HPO         Abnormality of long bone morphology
Orphanet Abnormality of the skeletal system
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)
             Abnormality of long bone morphology(HPO:0011314)
                Abnormal diaphysis morphology(HPO:0000940)
MedDRA:
Database Frequency: 41 / 7739
Resource:

All diseases associated with this symptom:

Achondroplasia (Orphanet:15)
Adamantinoma (Orphanet:55881)
Autosomal dominant osteosclerosis, Worth type (Orphanet:2790)
Bone dysplasia, lethal Holmgren type (Orphanet:1842)
Buschke-Ollendorff syndrome (Orphanet:1306)
Camurati-Engelmann disease (Orphanet:1328)
Cartilage-hair hypoplasia (Orphanet:175)
Cleidorhizomelic syndrome (Orphanet:1453)
Coffin-Lowry syndrome (Orphanet:192)
Craniodiaphyseal dysplasia (Orphanet:1513)
Cranioectodermal dysplasia (Orphanet:1515)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Dermatoosteolysis, Kirghizian type (Orphanet:1657)
Familial benign copper deficiency (Orphanet:1551)
Fibrochondrogenesis (Orphanet:2021)
Frontometaphyseal dysplasia (Orphanet:1826)
GM1 gangliosidosis (Orphanet:354)
Ghosal hematodiaphyseal dysplasia (Orphanet:1802)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hyperostosis corticalis generalisata (Orphanet:3416)
Juvenile hyaline fibromatosis (Orphanet:2028)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal restrictive dermopathy (Orphanet:1662)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Léri-Weill dyschondrosteosis (Orphanet:240)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Mucopolysaccharidosis type 7 (Orphanet:584)
Oculodentodigital dysplasia (Orphanet:2710)
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa (Orphanet:2653)
Osteogenesis imperfecta (Orphanet:666)
Osteopetrosis (Orphanet:2781)
Oto-onycho-peroneal syndrome (Orphanet:2793)
Schneckenbecken dysplasia (Orphanet:3144)
Sclerosteosis (Orphanet:3152)
Stickler syndrome (Orphanet:828)
Thoracomelic dysplasia (Orphanet:1803)
Urban-Rogers-Meyer syndrome (Orphanet:3409)