JSON

ablepharon macrostomia syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060550

A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [ url:https://www.ncbi.nlm.nih.gov/pubmed/27196381 http://purl.obolibrary.org/obo/ECO_0007636 url:http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/ url:https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007638 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:3
  • ORDO:920
  • MIM:200110
  • SNOMEDCT_US_2023_03_01:718575002
  • MESH:C535557
  • UMLS_CUI:C1860224
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0060550