restrictive dermopathy
Information
- Disease name
- restrictive dermopathy
- Disease ID
- DOID:0060762
- Description
- "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15317753, url:https\://www.ncbi.nlm.nih.gov/pubmed/20101687]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
- Disase is a (Disease Ontology)
- DOID:37
- Cross Reference ID (Disease Ontology)
- GARD:1516
- Cross Reference ID (Disease Ontology)
- MESH:C536920
- Cross Reference ID (Disease Ontology)
- MIM:PS275210
- Cross Reference ID (Disease Ontology)
- ORDO:1662
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:400128006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0406585
- Exact Synonym (Disease Ontology)
- hyperkeratosis-contracture syndrome
- Exact Synonym (Disease Ontology)
- Infantile restrictive dermopathy
- Exact Synonym (Disease Ontology)
- lethal restrictive dermopathy
- Exact Synonym (Disease Ontology)
- Lethal tight skin contracture syndrome
- Exact Synonym (Disease Ontology)
- tight skin contracture syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 1662