Human Phenotype Ontology

Last uploaded: February 24, 2022
Preferred Name

Synonyms

Unusual facial appearance

Dysmorphic facies

Dysmorphic facial features

Funny looking face

Distinctive facies

Facial dysmorphism

Malformation of face

Unusual facies

Abnormal morphology of the face

Deformity of face

Distortion of face

Abnormal facial shape

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:248200007

UMLS:C4072832

UMLS:C4072833

SNOMEDCT_US:398302004

UMLS:C0266617

UMLS:C1385263

UMLS:C0424503

SNOMEDCT_US:32003007

SNOMEDCT_US:398206004

definition

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

has_alternative_id

HP:0004655

HP:0004675

HP:0002260

HP:0002004

HP:0005124

HP:0004643

HP:0004649

HP:0004652

has_broad_synonym

Malformation of face

Deformity of face

has_exact_synonym

Unusual facial appearance

Dysmorphic facies

Dysmorphic facial features

Distinctive facies

Facial dysmorphism

Unusual facies

Abnormal morphology of the face

Abnormal facial shape

has_obo_namespace

human_phenotype

has_related_synonym

Funny looking face

Distortion of face

id

HP:0001999

in_subset

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

label

Abnormal facial shape

notation

HP:0001999

treeView

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

subClassOf

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

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