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Details
Link-It Detail - Human Phenotype - Abnormality of bone mineral density
Debug Stats
  • ### Total Build Time: 54 ms 49.065 KB
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Human Phenotype (1)
Abnormality of bone mineral density HP:0004348
Definition (1)
This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ.
Parents (2)
img Abnormality of the skeletal system HP:0000924
img Abnormal bone structure HP:0003330
Children (60)
img Absent humerus HP:0003862
img Sternal ossification center abnormalities HP:0006624
img Fused sternal ossification centers HP:0006643
img Irregular ossification of the humeral epiphyses HP:0003897
img Decreased calvarial ossification HP:0005474
img Severe carpal ossification delay HP:0006069
img Severely delayed patellae ossification HP:0006454
img Supernumerary vertebral ossification centers HP:0004598
img Delayed epiphyseal ossification HP:0002663
img Nonossified fifth metatarsal HP:0008087
img Absent ossification of capital femoral epiphysis HP:0008820
img Increased bone mineral density HP:0011001
img Irregular ossification of hand bones HP:0004280
img Decreased cranial base ossification HP:0005451
img Delayed upper limb epiphyseal ossification HP:0003840
img Absent ossification/absent forearm bones HP:0003953
img Irregular ossification at anterior rib ends HP:0006598
img Absent radius HP:0003974
img Multicentric ossification of proximal femoral epiphyses HP:0006450
img Large sternal ossification centers HP:0006642
img Reduced bone mineral density HP:0004349
img Decreased number of sternal ossification centers HP:0006611
img Early ossification of capital femoral epiphyses HP:0008797
img Absent metacarpal epiphyses HP:0009196
img Abnormal epiphyseal ossification HP:0010656
img Osteopathia striata HP:0010740
img Abnormal foot bone ossification HP:0010675
img Abnormal ossification involving the femoral head and neck HP:0009107
img Cartilaginous ossification of rib HP:0006662
img Absent in utero ossification of vertebral bodies HP:0008435
img Delayed closure of the anterior fontanelle HP:0001476
img Multiple enchondromatosis HP:0005701
img Generalized osteosclerosis HP:0005711
img Osteolysis HP:0002797
img Increased skull ossification HP:0004330
img Precocious costochondral ossification HP:0006607
img Absent ossification/Absence of the humeral epiphyses HP:0003892
img Epiphyseal stippling of the humerus HP:0003902
img Irregular ossification of humeral metaphyses HP:0003914
img Multiple carpal ossification centers HP:0006067
img Absent in utero rib ossification HP:0006615
img Progressive cartilaginous ossification of pinnae HP:0008549
img Abnormal pelvis bone ossification HP:0009106
img Abnormal hand bone ossification HP:0010660
img Decreased skull ossification HP:0004331
img Absent ossification of cervical and thoracic vertebral bodies HP:0005885
img Absent ulna HP:0003982
img Irregular ossification of the radial metaphysis HP:0004020
img Multicentric ossification of proximal humeral epiphyses HP:0004997
img Absent ossification of calvaria HP:0005623
img Absent sternal ossification HP:0006628
img Multicentric femoral head ossification HP:0008835
img Delayed proximal femoral epiphyseal ossification HP:0008828
img Delayed femoral head ossification HP:0008829
img Abnormal vertebral ossification HP:0100569
img Abnormal trabecular bone morphology HP:0100671
img Abnormal tarsal bone mineral density HP:0009132
img Patchy changes of bone mineral density HP:0010658
img Fibrous dysplasia of the bones HP:0010734
img Osteolytic defects of bones HP:0010737
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the skeletal system HP:0000924
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormal bone structure HP:0003330
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormal bone structure HP:0003330
Genes (365)

Species:
human : 365
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SpeciesGeneGeneIdGene NameEvidence
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanFWS100529224Forsythe-Wakeling syndrome
img HP RolledUp, OMIM ID: 613606
HumanRCHTS100462676Roifman-Chitayat syndrome
img HP RolledUp, OMIM ID: 613328
HumanMIR2861100422910microRNA 2861
img HP RolledUp, OMIM ID: 613418
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanBMND8100188854bone mineral density quantiative trait locus 8
img HP RolledUp, OMIM ID: 166710
HumanBMND7100188853bone mineral density quantiative trait locus 7
img HP RolledUp, OMIM ID: 166710
HumanHBD100187828hypophosphatemic bone disease
img HP RolledUp, OMIM ID: 146350
HumanSNORD116-1100033413
img HP RolledUp, OMIM ID: 176270
HumanSHFL1791121Split-hand/foot malformation with long bone deficiency 1
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
img HP RolledUp, OMIM ID: 176270
HumanPSS780904Potocki-Shaffer syndrome
img HP RolledUp, OMIM ID: 601224
HumanACRPV414058Acropectorovertebral dysplasia (F syndrome)
img HP RolledUp, OMIM ID: 102510
HumanLRSL406214Larsen-like syndrome
img HP RolledUp, OMIM ID: 608545
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img HP RolledUp, OMIM ID: 601675
HumanIFITM5387733interferon induced transmembrane protein 5
img HP RolledUp, OMIM ID: 610967
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanSNORD115-1338433
img HP RolledUp, OMIM ID: 176270
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanANO5203859anoctamin 5
img HP RolledUp, OMIM ID: 166260
HumanBMPER168667BMP binding endothelial regulator
img HP RolledUp, OMIM ID: 608022
HumanTRPV3162514transient receptor potential cation channel, subfamily V, member 3
img HP TAS, OMIM ID: 614594
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004348Abnormality of bone mineral density0self