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Details
Link-It Detail - Disease - Focal Dermal Hypoplasia
Debug Stats
  • ### Total Build Time: 317 ms 27.138 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Focal Dermal Hypoplasia C0016395
Definition (1)
A genetic multisystem disorder caused by mutations in the PORCN gene. It is characterized by atrophy and hypoplasia of skin, eye defects, face defects, skeletal abnormalities, and limb malformations.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (3)
img Genetic Diseases, X-Linked C1138434
img Dysostoses C0013393
img Ectodermal Dysplasia C0013575
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dysostoses C0013393
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Ectodermal Dysplasia C0013575
Relationships (107)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 103
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 6
inheritance_​type_​of : 1
manifestation_​of : 96
mapped_​to : 1
permuted_​term_​of : 1
used_​for : 2
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_CHEM21img Membrane Associated Proteins C0025252
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHYS8img Mutation C0026882
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_PHEN7img genetic aspects C0017399
DISO_to_DISOused_forimg 4-40 CONGENITAL ANOMALIES OF THE SKIN C0037268
DISO_to_DISOmanifestation_ofimg Absence of toe C0426934
DISO_to_DISOmanifestation_ofimg Absent fingernails C1844554
DISO_to_DISOmanifestation_ofimg Absent toenails C1844555
DISO_to_DISOmanifestation_ofimg Accessory nipple C0266011
DISO_to_DISOmanifestation_ofimg Acq stenos ear canal NOS C0155405
DISO_to_DISOmanifestation_ofimg Affected males are all result of new mutation C1844559
DISO_to_DISOmanifestation_ofimg Ageneses, Enamel C0011351
DISO_to_DISOmanifestation_ofimg Agenesis of Corpus Callosum C0175754
DISO_to_DISOmanifestation_ofimg Agenesis of eye C0003119
DISO_to_DISOmanifestation_ofimg Aniridia C0003076
DISO_to_DISOmanifestation_ofimg Aniridia (3%) C1844536
DISO_to_DISOmanifestation_ofimg Anteriorly displaced anus C1838705
DISO_to_DISOmanifestation_ofimg Arborescent papillomas (axillae, periumbilical area, anus, vulva) C1844551
DISO_to_DISOmanifestation_ofimg Arnold Chiari Malformation C0003803
DISO_to_DISOmanifestation_ofimg Asymmetric breast C0425779
DISO_to_DISOmanifestation_ofimg Asymmetric skull C0424690
DISO_to_DISOmanifestation_ofimg Atrophic condition of skin C0151514
DISO_to_DISOmanifestation_ofimg Bifid ureter ICD10CM:Q62.5 C0221365
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPORCN64840porcupine homolog (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 17546031, UMLKSK CUI: C0016395
img GENERIF, Score=1000, Pubmed Id: 17546030, UMLKSK CUI: C0016395
img GENERIF, Score=756, Pubmed Id: 18325042, UMLKSK CUI: C0016395
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016395Focal Dermal Hypoplasia0self