Human Phenotype Ontology

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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 appendicular skeleton morphology (HP:0011844)

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Parent Node:
Abnormal long bone morphology (HP:0011314)

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..Starting node
..Abnormal epiphysis morphology (HP:0005930)

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Term ID:	5930
Name:	Abnormal epiphysis morphology
Synonym:	Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality
Definition:	An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Comments:
Reference:	HP:0005930
Genes and Diseases:	There are 708 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Epiphyseal dysplasia (HP:0002656)
........Delayed epiphyseal ossification (HP:0002663) ................... HP:0003840 Delayed upper limb epiphyseal ossification ................... HP:0006016 Delayed phalangeal epiphyseal ossification ................... HP:0008828 Delayed proximal femoral epiphyseal ossification
........Epiphyseal deformities of tubular bones (HP:0003053) ................... HP:0006172 Flattened, squared-off epiphyses of tubular bones
........Flattened epiphysis (HP:0003071) ................... HP:0003895 Flattened humeral epiphyses ................... HP:0004002 Flattened radial epiphyses ................... HP:0005715 Flattened knee epiphyses ................... HP:0006172 Flattened, squared-off epiphyses of tubular bones ................... HP:0030289 Flattened femoral epiphysis
........Epiphyseal streaking (HP:0004990)
........Abnormality of limb epiphysis morphology (HP:0006505) ................... HP:0003839 Abnormality of upper limb epiphysis morphology ................... HP:0006500 Abnormality of lower limb epiphysis morphology
........Absent epiphyses (HP:0010577) ................... HP:0005003 Aplasia/Hypoplasia of the capital femoral epiphysis ................... HP:0005093 Absent proximal radial epiphyses ................... HP:0006400 Absent knee epiphyses ................... HP:0009196 Absent metacarpal epiphyses ................... HP:0010162 Absent epiphyses of the toes ................... HP:0010228 Absent epiphyses of the phalanges of the hand
........Bracket epiphyses (HP:0010578) ................... HP:0010163 Bracket epiphyses of the toes ................... HP:0010229 Bracket epiphyses of the phalanges of the hand
........Cone-shaped epiphysis (HP:0010579) ................... HP:0004000 Cone-shaped distal radial epiphysis ................... HP:0005066 Cone-shaped epiphyses fused within their metaphyses ................... HP:0006059 Cone-shaped metacarpal epiphyses ................... HP:0008789 Cone-shaped capital femoral epiphysis ................... HP:0010164 Cone-shaped epiphyses of the toes ................... HP:0010230 Cone-shaped epiphyses of the phalanges of the hand
........Enlarged epiphyses (HP:0010580) ................... HP:0003013 Bulging epiphyses ................... HP:0003371 Enlargement of the proximal femoral epiphysis ................... HP:0003898 Large humeral epiphyses ................... HP:0003904 Wide epiphyses of the upper limbs ................... HP:0004005 Large radial epiphyses ................... HP:0006134 Enlarged metacarpal epiphyses ................... HP:0010165 Enlarged epiphyses of the toes ................... HP:0010231 Enlarged epiphyses of the phalanges of the hand
........Irregular epiphyses (HP:0010582) ................... HP:0003842 Irregular epiphyses of the upper limbs ................... HP:0004004 Irregular radial epiphyses ................... HP:0005063 Fragmented, irregular epiphyses ................... HP:0006361 Irregular femoral epiphysis ................... HP:0006456 Irregular proximal tibial epiphyses ................... HP:0010167 Irregular epiphyses of the toes
........Ivory epiphyses (HP:0010583) ................... HP:0009191 Ivory epiphyses of the metacarpals ................... HP:0010168 Ivory epiphyses of the toes ................... HP:0010234 Ivory epiphyses of the phalanges of the hand
........Pseudoepiphyses (HP:0010584) ................... HP:0004288 Pseudoepiphyses of hand bones ................... HP:0010169 Pseudoepiphyses of the toes
........Small epiphyses (HP:0010585) ................... HP:0003844 Small epiphyses of the upper limbs ................... HP:0004010 Small radial epiphyses ................... HP:0009194 Small epiphyses of the metacarpals ................... HP:0010170 Small epiphyses of the toes ................... HP:0010236 Small epiphyses of the phalanges of the hand ................... HP:0012284 Small proximal tibial epiphyses
........Triangular epiphyses (HP:0010587) ................... HP:0009171 Triangular epiphyses of the metacarpals ................... HP:0010172 Triangular epiphyses of the toes ................... HP:0010238 Triangular epiphyses of the phalanges of the hand
........Premature epimetaphyseal fusion (HP:0010588) ................... HP:0012562 Premature epimetaphyseal fusion in hand ................... HP:0012563 Premature epimetaphyseal fusion in foot ................... HP:0012564 Premature epimetaphyseal fusion in tibia ................... HP:0012565 Premature epimetaphyseal fusion in fibula ................... HP:0012566 Premature epimetaphyseal fusion in radius ................... HP:0012567 Premature epimetaphyseal fusion in ulna
........Epiphyseal stippling (HP:0010655) ................... HP:0003902 Epiphyseal stippling of the humerus ................... HP:0004695 Calcaneal epiphyseal stippling ................... HP:0005756 Neonatal epiphyseal stippling ................... HP:0006370 Distal ulnar epiphyseal stippling ................... HP:0009195 Epiphyseal stippling of the metacarpals ................... HP:0010171 Epiphyseal stippling of toe phalanges ................... HP:0010237 Epiphyseal stippling of finger phalanges
........Multinucleated giant chondrocytes in epiphyseal cartilage (HP:0030330)
........Fragmented epiphyses (HP:0100168) ................... HP:0003841 Fragmented epiphyses of the upper limbs ................... HP:0005063 Fragmented, irregular epiphyses ................... HP:0010166 Fragmentation of the epiphyses of the toes
........Abnormality of vertebral epiphysis morphology (HP:0100734)
........Splayed epiphyses (HP:0200003)
Sister Nodes:
..Abnormal diaphysis morphology (HP:0000940)
..Abnormal humerus morphology (HP:0031095)
..Abnormal metaphysis morphology (HP:0000944)
..Abnormal morphology of ulna (HP:0040071)
..Broad long bones (HP:0005622)
..Crumpled long bones (HP:0006367)
..Fractures of the long bones (HP:0003084)
..Increased density of long bones (HP:0006392)
..obsolete Abnormal morphology of the radius (HP:0045009)
..Overtubulated long bones (HP:0006391)
..Periosteal thickening of long tubular bones (HP:0006465)
..Phocomelia (HP:0009829)
..Protuberances at ends of long bones (HP:0003105)
..Pseudoarthrosis (HP:0005864)
..Short long bone (HP:0003026)
..Slender long bone (HP:0003100)
..Thickened cortex of long bones (HP:0000935)
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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