Phenotype Library | Search Phenotypes

Thanatophoric Dysplasia Type 1 (MONDO:0008546)

Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

Overview

Category

Ontology ID

Internal:9835

Synonyms

TD1

thanatophoric dwarfism type 1

thanatophoric dysplasia, type 1

type 1 thanatophoric dysplasia

PLSD San Diego type

Platyspondylic lethal skeletal dysplasia, San Diego type

lethal short-limbed Platyspondylic dwarfism, San Diego type

thanatophoric dwarfism

thanatophoric dwarfism 1

thanatophoric dysplasia

thanatophoric dysplasia type I

thanatophoric dysplasia, type I

Mapped terms

GARD:0009295

MEDGEN:358383

NANDO:1200875

NCIT:C98583

OMIM:187600

OMIM:270230

Orphanet:1860

UMLS:C1868678

Child terms

Unknown children.