Terminology Service for NFDI4Health
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Thanatophoric Dysplasia

Go to external page http://purl.obolibrary.org/obo/NCIT_C85187

A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate. [ ]

Term info

Label

Thanatophoric Dysplasia

Synonyms
  • Thanatophoric Dysplasia
Subsets

NCIT_C99147, NCIT_C90259

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C89330, http://purl.obolibrary.org/obo/NCIT_C89337

NICHD Hierarchy Term

Thanatophoric Dysplasia

Preferred Name

Thanatophoric Dysplasia

Semantic Type

Disease or Syndrome

UMLS CUI

C0039743

code

C85187