Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Human Phenotype Ontology

Grandparent Node:
Abnormal skeletal morphology (HP:0011842)

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Parent Node:
Abnormal appendicular skeleton morphology (HP:0011844)

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..Starting node
..Abnormal long bone morphology (HP:0011314)

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Term ID:	11314
Name:	Abnormal long bone morphology
Synonym:	Abnormal shape of long bone; Abnormality of long bone morphology; Abnormality of the tubular bones
Definition:	An abnormality of size or shape of the long bones.
Comments:
Reference:	HP:0011314
Genes and Diseases:	There are 1077 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Thickened cortex of long bones (HP:0000935) ................... HP:0003868 Humeral cortical thickening ................... HP:0005665 Massively thickened long bone cortices ................... HP:0005791 Cortical thickening of long bone diaphyses ................... HP:0006415 Cortically dense long tubular bones
........Abnormal diaphysis morphology (HP:0000940) ................... HP:0000941 Short diaphyses ................... HP:0003034 Diaphyseal sclerosis ................... HP:0004993 Slender long bones with narrow diaphyses ................... HP:0005019 Diaphyseal thickening ................... HP:0005791 Cortical thickening of long bone diaphyses ................... HP:0006504 Anomaly of the limb diaphyses ................... HP:0008114 Metatarsal diaphyseal endosteal sclerosis ................... HP:0100252 Diaphyseal dysplasia ................... HP:0100253 Abnormality of the medullary cavity of the long bones
........Abnormality of the metaphysis (HP:0000944) ................... HP:0002810 Dumbbell-shaped metaphyses ................... HP:0003016 Metaphyseal widening ................... HP:0003021 Metaphyseal cupping ................... HP:0003025 Metaphyseal irregularity ................... HP:0003051 Enlarged metaphyses ................... HP:0003562 Abnormal metaphyseal vascular invasion ................... HP:0003908 Corner fracture of metaphysis ................... HP:0004979 Metaphyseal sclerosis ................... HP:0004980 Metaphyseal rarefaction ................... HP:0005054 Metaphyseal spurs ................... HP:0005089 Abnormal metaphyseal trabeculation ................... HP:0005868 Metaphyseal enchondromatosis ................... HP:0005899 Metaphyseal dysostosis ................... HP:0006490 Abnormality of lower-limb metaphyses ................... HP:0009809 Abnormality of upper limb metaphysis ................... HP:0031016 Alternating radiolucent and radiodense metaphyseal lines ................... HP:0031367 Metaphyseal striations ................... HP:0100255 Metaphyseal dysplasia ................... HP:0100959 Dense metaphyseal bands
........Short long bone (HP:0003026) ................... HP:0001248 Short tubular bones of the hand ................... HP:0003038 Fibular hypoplasia ................... HP:0003097 Short femur ................... HP:0005736 Short tibia ................... HP:0005792 Short humerus ................... HP:0009821 Forearm undergrowth ................... HP:0010743 Short metatarsal
........Fractures of the long bones (HP:0003084) ................... HP:0003978 Fractured radius ................... HP:0003987 Fractured ulna
........Slender long bone (HP:0003100) ................... HP:0003882 Slender humerus ................... HP:0003992 Slender ulna ................... HP:0004993 Slender long bones with narrow diaphyses ................... HP:0040062 Slender radius
........Protuberances at ends of long bones (HP:0003105)
........Broad long bones (HP:0005622) ................... HP:0003886 Wide humerus ................... HP:0003981 Broad radius ................... HP:0003993 Broad ulna ................... HP:0006009 Broad phalanx ................... HP:0012107 Increased fibular diameter
........Pseudoarthrosis (HP:0005864) ................... HP:0006585 Congenital pseudoarthrosis of the clavicle ................... HP:0009736 Tibial pseudoarthrosis
........Abnormality of epiphysis morphology (HP:0005930) ................... HP:0002656 Epiphyseal dysplasia ................... HP:0002663 Delayed epiphyseal ossification ................... HP:0003053 Epiphyseal deformities of tubular bones ................... HP:0003071 Flattened epiphysis ................... HP:0004990 Epiphyseal streaking ................... HP:0006505 Abnormality of limb epiphysis morphology ................... HP:0010577 Absent epiphyses ................... HP:0010578 Bracket epiphyses ................... HP:0010579 Cone-shaped epiphysis ................... HP:0010580 Enlarged epiphyses ................... HP:0010582 Irregular epiphyses ................... HP:0010583 Ivory epiphyses ................... HP:0010584 Pseudoepiphyses ................... HP:0010585 Small epiphyses ................... HP:0010587 Triangular epiphyses ................... HP:0010588 Premature epimetaphyseal fusion ................... HP:0010655 Epiphyseal stippling ................... HP:0030330 Multinucleated giant chondrocytes in epiphyseal cartilage ................... HP:0100168 Fragmented epiphyses ................... HP:0100734 Abnormality of vertebral epiphysis morphology ................... HP:0200003 Splayed epiphyses
........Crumpled long bones (HP:0006367)
........Overtubulated long bones (HP:0006391)
........Increased density of long bones (HP:0006392) ................... HP:0003034 Diaphyseal sclerosis ................... HP:0003881 Humeral sclerosis ................... HP:0003991 Osteosclerosis of the ulna ................... HP:0006440 Increased density of long bone diaphyses
........Periosteal thickening of long tubular bones (HP:0006465)
........Phocomelia (HP:0009829) ................... HP:0009813 Upper limb phocomelia ................... HP:0009819 Lower limb phocomelia ................... HP:0030721 Tetraphocomelia
........Abnormal humerus morphology (HP:0031095) ................... HP:0003863 Angulated humerus ................... HP:0003864 Bifid humerus ................... HP:0003865 Bowed humerus ................... HP:0003866 Coarse humeral trabeculae ................... HP:0003870 Crumpled humerus ................... HP:0003871 Deformed humerus ................... HP:0003872 Humeral exostoses ................... HP:0003874 Humerus varus ................... HP:0003875 Humeral lytic defects ................... HP:0003877 Oval transradiancy of humerus ................... HP:0003879 Humeral pseudarthrosis ................... HP:0003882 Slender humerus ................... HP:0003883 Tapered humerus ................... HP:0003885 Undermodeled humerus ................... HP:0003886 Wide humerus ................... HP:0003887 Abnormality of the humeral heads ................... HP:0003926 Abnormality of the humeral diaphysis ................... HP:0006441 Lateral humeral condyle aplasia ................... HP:0010629 Abnormal morphology of the cortex of the humerus
........Abnormal morphology of ulna (HP:0040071) ................... HP:0003022 Hypoplasia of the ulna ................... HP:0003993 Broad ulna
........Abnormal morphology of the radius (HP:0045009) ................... HP:0002984 Hypoplasia of the radius ................... HP:0003976 Constricted radius ................... HP:0003977 Deformed radius ................... HP:0003978 Fractured radius ................... HP:0003981 Broad radius ................... HP:0006424 Elongated radius ................... HP:0006433 Dysplastic radii ................... HP:0045008 Abnormal shape of the radius
Sister Nodes:
..Abnormal pelvic girdle bone morphology (HP:0002644)
..Abnormal shoulder morphology (HP:0003043)
..Abnormality of limb bone morphology (HP:0002813)
Genes (0) : Diseases (0) :
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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