Human Phenotype Ontology 
Grandparent Node:
expandLocalized skin lesion (HP:0011355)help
Parent Node:
expandCapillary malformation (HP:0025104)help
..Starting node
..expandCutis marmorata telangiectatica congenita (HP:0025107)help
Term ID: 25107
Name: Cutis marmorata telangiectatica congenita
Synonym:
Definition: A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible.
Comments:
Reference: HP:0025107
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAngioma serpentinum (HP:0025108) help
..expandNevus anemicus (HP:0025105) help
..expandNevus flammeus (HP:0001052) help
..expandNevus roseus (HP:0025106) 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:0025107HP:0025107Cutis marmorata telangiectatica congenita0NOTCH1 CL E G H48517881OMIM:616028Adams-Oliver syndrome 5.452


Genes (1) :NOTCH1

Diseases (1) :OMIM:616028
 

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