Combined Phenotype Ontology

Last uploaded: November 18, 2021
Preferred Name

Abnormal facial shape

Synonyms

Funny looking face

Distortion of face

Deformity of face

Malformation of face

Dysmorphic facies

Abnormal morphology of the face

Dysmorphic facial features

Unusual facial appearance

Distinctive facies

Abnormal facial shape

Unusual facies

Facial dysmorphism

Definitions

An abnormal morphology (form) of the face or its components. This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.

ID

http://purl.obolibrary.org/obo/HP_0001999

comment

This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised.

database_cross_reference

SNOMEDCT_US:32003007

UMLS:C4072833

UMLS:C4072832

UMLS:C1385263

SNOMEDCT_US:248200007

SNOMEDCT_US:398206004

UMLS:C0266617

SNOMEDCT_US:398302004

UMLS:C0424503

definition

An abnormal morphology (form) of the face or its components.

has broad synonym

Deformity of face

Malformation of face

has exact synonym

Dysmorphic facies

Abnormal morphology of the face

Dysmorphic facial features

Unusual facial appearance

Distinctive facies

Abnormal facial shape

Unusual facies

Facial dysmorphism

has related synonym

Funny looking face

Distortion of face

has_alternative_id

HP:0002004

HP:0002260

HP:0004643

HP:0004649

HP:0004652

HP:0004655

HP:0004675

HP:0005124

id

HP:0001999

in_subset

http://purl.obolibrary.org/obo/hp#hposlim_core

label

Abnormal facial shape

notation

HP:0001999

prefLabel

Abnormal facial shape

subClassOf

http://purl.obolibrary.org/obo/HP_0000271

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