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Details
Link-It Detail - Human Phenotype - Abnormality of calvarial morphology
Debug Stats
  • ### Total Build Time: 64 ms 36.479 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 210 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 251 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 775 bytes
  • CONCEPT_CHILDREN gt=11 ms Completed: 11 ms rowSize= 7.021 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 3.944 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=39 ms Completed: 39 ms rowSize= 23.132 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of calvarial morphology HP:0002648
Definition (1)
The presence of an `abnormal` (PATO:0000460) `shape` (PATO:0000052) of the`calvaria` (FMA:52800).
Parents (2)
img Abnormality of the calvaria HP:0002683
img Abnormality of the skull HP:0000929
Children (22)
img Frontal bossing HP:0002007
img Flat occiput HP:0005469
img Skull asymmetry HP:0002678
img Abnormal shape of the occiput HP:0011217
img Abnormality of the parietal bone HP:0002696
img Frontal bone hypoplasia HP:0005466
img Cranial asymmetry HP:0000267
img Scaphocephaly HP:0000258
img Posterior flattening of the skull HP:0000247
img Dolichocephaly HP:0000268
img Cloverleaf skull HP:0002676
img Broad skull HP:0002682
img Trigonocephaly HP:0000243
img Plagiocephaly HP:0001357
img Turricephaly HP:0000262
img Prominent occiput HP:0000269
img Abnormal shape of the frontal region HP:0011218
img Craniosynostosis HP:0001363
img Brachycephaly HP:0000248
img Skull defect HP:0001362
img Biparietal narrowing HP:0004422
img Platybasia HP:0002691
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the calvaria HP:0002683
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the calvaria HP:0002683
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the skull HP:0000929
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the skull HP:0000929
Genes (433)

Species:
human : 433
Page Size
Current 25
  Page 1 of 18
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPDA1100996949Patent ductus arteriosus, susceptibility to
img HP RolledUp, OMIM ID: 607411
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanC16DELQ22100874527Chromosome 16q22 deletion syndrome
img HP RolledUp, OMIM ID: 614541
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanDEL2Q23.1100820633
img HP TAS, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP TAS, OMIM ID: 252270
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL3PTERP251006533853p- syndrome
img HP TAS, OMIM ID: 613792
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanDEL1P32P31100532738Chromosome 1p32-p31 deletion syndrome
img HP RolledUp, OMIM ID: 613735
HumanDEL1Q41Q42100529242Chromosome 1q41-q42 deletion syndrome
img HP RolledUp, OMIM ID: 612530
HumanTRIP4Q32.1Q32.2100529228
img HP RolledUp, OMIM ID: 613603
HumanFWS100529224Forsythe-Wakeling syndrome
img HP RolledUp, OMIM ID: 613606
HumanDEL4Q21100528026Chromosome 4q21 deletion syndrome
img HP RolledUp, OMIM ID: 613509
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP RolledUp, OMIM ID: 613457
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
img HP RolledUp, OMIM ID: 612863
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanDEL17Q23.1Q23.2100415941
img HP RolledUp, OMIM ID: 613355
HumanDUP17P13.3100379203
img HP RolledUp, OMIM ID: 613215
HumanDUP5P13100379202Chromosome 5p13 duplication syndrome
img HP RolledUp, OMIM ID: 613174
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0002648Abnormality of calvarial morphology0self