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Details
Link-It Detail - Human Phenotype - Abnormality of skin morphology
Debug Stats
  • ### Total Build Time: 257 ms 29.342 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 205 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 209 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=0 Completed: 0 ms rowSize= 778 bytes
  • CONCEPT_CHILDREN gt=10 ms Completed: 10 ms rowSize= 4.262 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.092 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=233 ms Completed: 233 ms rowSize= 20.655 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.024 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of skin morphology HP:0011121
Definition (1)
Any morphological abnormality of the `skin` (FMA:7163).
Parents (2)
img Generalized abnormality of skin HP:0011354
img Abnormality of the skin HP:0000951
Children (13)
img Dry skin HP:0000958
img Abnormal elasticity of skin HP:0010647
img Abnormally lax or hyperextensible skin HP:0008067
img Poikiloderma HP:0001029
img Abnormal blistering of the skin HP:0008066
img Dermal translucency HP:0010648
img Thickened skin HP:0001072
img Pallor HP:0000980
img Abnormality of skin pigmentation HP:0001000
img Lichenification HP:0100725
img Ichthyosiform abnormality of the skin HP:0008064
img Abnormality of epidermal morphology HP:0011124
img Premature skin wrinkling HP:0100678
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Generalized abnormality of skin HP:0011354
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the skin HP:0000951
Genes (585)

Species:
human : 585
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanPPKP1B101154752Keratoderma, palmoplantar, punctate type IB
img HP RolledUp, OMIM ID: 614936
HumanPOROK7101101698Porokeratosis 7, disseminated superficial actinic
img HP RolledUp, OMIM ID: 614714
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
HumanSCA34100750330spinocerebellar ataxia 34
img HP RolledUp, OMIM ID: 133190
HumanMYMY4100653379Moyamoya disease 4
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanEDSS2100505394Ectodermal dysplasia-syndactyly syndrome 2
img HP RolledUp, OMIM ID: 613576
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP RolledUp, OMIM ID: 613457
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanDEL19Q13.11100306978
img HP RolledUp, OMIM ID: 613026
HumanDEL9P100240748Chromosome 9p deletion syndrome
HumanDEL18P100240747Chromosome 18p deletion syndrome
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDSAP4100196911Porokeratosis, disseminated superficial actinic, 4
img HP RolledUp, OMIM ID: 612353
HumanPPPD1100196910Porokeratosis, palmar, plantar, and disseminated 1
img HP RolledUp, OMIM ID: 175850
HumanMICRODEL15Q13.3100188869
img HP RolledUp, OMIM ID: 612001
HumanMICRODEL3Q29100188788Chromosome 3q29 microdeletion syndrome
img HP RolledUp, OMIM ID: 609425
HumanDFCTRPS100188774Deafness, cataract, retinitis pigmentosa, and sperm abnormalities
img HP RolledUp, OMIM ID: 300719
HumanAGSPX100188767Angio serpiginosum
HumanHLP100188397hyperkeratosis lenticularis perstans
HumanRNU4ATAC100151683RNA, U4atac small nuclear (U12-dependent splicing)
img HP RolledUp, OMIM ID: 210710
HumanAA1100034700Alopecia areata 1
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011121Abnormality of skin morphology0self