Human Phenotype Ontology

Last uploaded: March 6, 2024
Preferred Name

Abnormal facial shape

Synonyms

Abnormal facial shape

Dysmorphic facial features

Facial dysmorphism

Abnormal morphology of the face

Dysmorphic facies

Distinctive facies

Unusual facial appearance

Unusual facies

Deformity of face

Malformation of face

Distortion of face

Funny looking face

Definitions

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

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

UMLS:C4072832

SNOMEDCT_US:398302004

UMLS:C0266617

UMLS:C1385263

SNOMEDCT_US:32003007

SNOMEDCT_US:248200007

UMLS:C0424503

UMLS:C4072833

SNOMEDCT_US:398206004

definition

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

has_alternative_id

HP:0004655

HP:0002004

HP:0005124

HP:0002260

HP:0004649

HP:0004652

HP:0004675

HP:0004643

has_broad_synonym

Deformity of face

Malformation of face

has_exact_synonym

Abnormal facial shape

Dysmorphic facial features

Facial dysmorphism

Abnormal morphology of the face

Dysmorphic facies

Distinctive facies

Unusual facial appearance

Unusual facies

has_obo_namespace

human_phenotype

has_related_synonym

Distortion of face

Funny looking face

id

HP:0001999

in_subset

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

label

Abnormal facial shape

notation

HP:0001999

prefLabel

Abnormal facial shape

treeView

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

subClassOf

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

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