Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormality of connective tissue (HP:0003549)help
..Starting node
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Abnormality of the fascia (HP:0100536)help
Term ID: 100536
Name: Abnormality of the fascia
Synonym:
Definition: An abnormality of fascia.
Comments:
Reference: HP:0100536
Genes and Diseases:
 
       Child Nodes:
........expandFasciitis (HP:0100537) help
................... HP:0045029 Eosinophilic fasciitis

 Sister Nodes: 
..expandAbnormal adipose tissue morphology (HP:0009124) help
..expandAbnormal mast cell morphology (HP:0100494) help
..expandAbnormal odontoid tissue morphology (HP:3000050) help
..expandAbnormal Sharpey fiber morphology (HP:0100685) help
..expandCellulitis (HP:0100658) help
..expandCongenital mesoblastic nephroma (HP:0100881) help
..expandConnective tissue nevi (HP:0100898) help
..expandFlexion contracture (HP:0001371) help
..expandHernia (HP:0100790) help
..expandIncreased connective tissue (HP:0009025) help
..expandMusculotendinous retraction (HP:0031462) help
..expandScarring (HP:0100699) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100536HP:0100536Abnormality of the fascia0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 497
HP:0100536HP:0100536Abnormality of the fascia0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0100536HP:0100537Fasciitis1NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040282 - Frequent97
HP:0100536HP:0100537Fasciitis1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0100536HP:0045029Eosinophilic fasciitis2 CL E G H


Genes (2) :NTRK1 TNFRSF1A

Diseases (2) :ORPHA:642 ORPHA:32960
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.