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:
Abnormality of the skeletal system (HP:0000924)

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Parent Node:
Abnormal skeletal morphology (HP:0011842)

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..Starting node
..Abnormal axial skeleton morphology (HP:0009121)

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Term ID:	9121
Name:	Abnormal axial skeleton morphology
Synonym:	Abnormality of the axial skeleton
Definition:	An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum.
Comments:
Reference:	HP:0009121
Genes and Diseases:	There are 709 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the thorax (HP:0000765) ................... HP:0000766 Abnormality of the sternum ................... HP:0000782 Abnormality of the scapula ................... HP:0000889 Abnormality of the clavicle ................... HP:0001547 Abnormality of the rib cage ................... HP:0003043 Abnormality of the shoulder ................... HP:0004878 Intercostal muscle weakness ................... HP:0005257 Thoracic hypoplasia ................... HP:0006711 Aplasia/Hypoplasia involving bones of the thorax ................... HP:0010306 Short thorax ................... HP:0100656 Thoracoabdominal wall defect ................... HP:0100711 Abnormality of the thoracic spine ................... HP:0100749 Chest pain
........Abnormality of the vertebral column (HP:0000925) ................... HP:0003302 Spondylolisthesis ................... HP:0003304 Spondylolysis ................... HP:0003306 Spinal rigidity ................... HP:0003310 Abnormality of the odontoid process ................... HP:0003319 Abnormality of the cervical spine ................... HP:0003413 Atlantoaxial abnormality ................... HP:0003416 Spinal canal stenosis ................... HP:0003418 Back pain ................... HP:0003468 Abnormal vertebral morphology ................... HP:0005107 Abnormality of the sacrum ................... HP:0005108 Abnormality of the intervertebral disk ................... HP:0005881 Spinal instability ................... HP:0008423 Spinal dysplasia ................... HP:0008433 Reversed usual vertebral column curves ................... HP:0008443 Spinal deformities ................... HP:0008518 Aplasia/Hypoplasia involving the vertebral column ................... HP:0008519 Abnormality of the coccyx ................... HP:0010674 Abnormality of the curvature of the vertebral column ................... HP:0100711 Abnormality of the thoracic spine ................... HP:0100712 Abnormality of the lumbar spine
........Abnormality of the skull (HP:0000929) ................... HP:0000240 Abnormality of skull size ................... HP:0000264 Abnormality of the mastoid ................... HP:0002679 Abnormality of the sella turcica ................... HP:0002683 Abnormality of the calvaria ................... HP:0002693 Abnormality of the skull base ................... HP:0002699 Abnormality of the foramen magnum ................... HP:0002703 Abnormality of skull ossification ................... HP:0004439 Craniofacial dysostosis ................... HP:0009116 Aplasia/Hypoplasia involving bones of the skull ................... HP:0009911 Abnormality of the temporal bone ................... HP:0011815 Cephalocele ................... HP:0011821 Abnormality of facial skeleton ................... HP:0012294 Abnormality of the occipital bone ................... HP:3000030 Abnormality of bony orbit of skull
........Disproportionate short-trunk short stature (HP:0003521) ................... HP:0008857 Neonatal short-trunk short stature ................... HP:0008922 Childhood-onset short-trunk short stature ................... HP:0011404 Lethal short-trunk short stature ................... HP:0011406 Infancy onset short-trunk short stature
........Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122) ................... HP:0006711 Aplasia/Hypoplasia involving bones of the thorax ................... HP:0008518 Aplasia/Hypoplasia involving the vertebral column ................... HP:0009116 Aplasia/Hypoplasia involving bones of the skull
........Supernumerary bones of the axial skeleton (HP:0009144) ................... HP:0002946 Supernumerary vertebrae ................... HP:0005815 Supernumerary ribs
Sister Nodes:
..Abnormal appendicular skeleton morphology (HP:0011844)
..Abnormal bone structure (HP:0003330)
..Abnormal cartilage morphology (HP:0002763)
..Abnormal growth plate morphology (HP:0025368)
..Abnormal hyoid bone morphology (HP:3000052)
..Abnormal joint morphology (HP:0001367)
..Abnormal mandibular symphysis morphology (HP:3000079)
..Abnormal synovial bursa morphology (HP:0025231)
..Abnormal tendon morphology (HP:0100261)
..Aplasia/hypoplasia involving the skeleton (HP:0009115)
..Dysostosis multiplex (HP:0000943)
..Hyperostosis (HP:0100774)
..Hyperplastic callus formation (HP:0030268)
..Neoplasm of the skeletal system (HP:0010622)
..obsolete Abnormality of cartilage morphology (HP:0410007)
..Skeletal dysplasia (HP:0002652)
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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