Human Phenotype Ontology 
Grandparent Node:
Abnormality of the skin (HP:0000951)help
Parent Node:
Abnormality of skin morphology (HP:0011121)help
..Starting node
Stiff skin (HP:0030053)help
Term ID: 30053
Name: Stiff skin
Synonym: Indurated skin; Stiff skin
Definition: An induration (hardening) of the skin
Reference: HP:0030053
Genes and Diseases:
       Child Nodes:

 Sister Nodes: 
..expandAbnormal blistering of the skin (HP:0008066) help
..expandAbnormal cutaneous collagen fibril morphology (HP:0031512) help
..expandAbnormal cutaneous elastic fiber morphology (HP:0025082) help
..expandAbnormal dermoepidermal junction morphology (HP:0031538) help
..expandAbnormal elasticity of skin (HP:0010647) help
..expandAbnormal epidermal morphology (HP:0011124) help
..expandAbnormality of skin pigmentation (HP:0001000) help
..expandDermal translucency (HP:0010648) help
..expandDry skin (HP:0000958) help
..expandElevated dermal desmosine content (HP:0025083) help
..expandGeneralized abnormality of skin (HP:0011354) help
..expandLichenification (HP:0100725) help
..expandLocalized skin lesion (HP:0011355) help
..expandOchronosis (HP:0030764) help
..expandPallor (HP:0000980) help
..expandPoikiloderma (HP:0001029) help
..expandRegional abnormality of skin (HP:0011356) help
..expandThickened skin (HP:0001072) 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:0030053HP:0030053Stiff skin0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0030053HP:0030053Stiff skin0FBN1 CL E G H22003603OMIM:184900STIFF SKIN SYNDROME; SSKS1361
HP:0030053HP:0030053Stiff skin0LMNA CL E G H40006636ORPHA:1662Restrictive dermopathyHP:0040280 - Obligate645
HP:0030053HP:0030053Stiff skin0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0030053HP:0030053Stiff skin0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040281 - Very frequent68
HP:0030053HP:0030053Stiff skin0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0030053HP:0030053Stiff skin0ZMPSTE24 CL E G H1026912877ORPHA:1662Restrictive dermopathyHP:0040280 - Obligate83


Diseases (6) :OMIM:615688 OMIM:184900 ORPHA:1662 OMIM:256040 ORPHA:168569 OMIM:139210

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