Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

CHLA_Logo

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Human Phenotype Ontology

Grandparent Node:
Abnormality of head or neck (HP:0000152)

help

Parent Node:
Abnormality of the head (HP:0000234)

help

..Starting node
..Abnormality of the face (HP:0000271)

help

Term ID:	271
Name:	Abnormality of the face
Synonym:	Abnormal face; Abnormality of the countenance; Abnormality of the face; Abnormality of the physiognomy; Abnormality of the visage; Anomaly of face; Anomaly of the face; Disorder of face; Disorder of the face; Facial abnormality; Facial anomaly
Definition:	An abnormality of the face.
Comments:
Reference:	HP:0000271
Genes and Diseases:	There are 1058 terms for your input, too many to show detail here. Please try its child terms.
Child Nodes:
........Abnormality of the mouth (HP:0000153) ................... HP:0031815 Abnormal oral physiology ................... HP:0031816 Abnormal oral morphology
........Abnormality of the forehead (HP:0000290) ................... HP:0000337 Broad forehead ................... HP:0000340 Sloping forehead ................... HP:0000341 Narrow forehead ................... HP:0000348 High forehead ................... HP:0000350 Small forehead ................... HP:0000599 Abnormality of the frontal hairline ................... HP:0002003 Large forehead ................... HP:0002007 Frontal bossing ................... HP:0002056 Abnormality of the glabella ................... HP:0004425 Flat forehead ................... HP:0005336 Forehead hyperpigmentation ................... HP:0005556 Abnormality of the metopic suture ................... HP:0011220 Prominent forehead ................... HP:0011221 Vertical forehead creases ................... HP:0011335 Frontal hirsutism ................... HP:3000004 Abnormality of frontalis muscle belly
........Abnormality of the chin (HP:0000306) ................... HP:0000303 Mandibular prognathia ................... HP:0000307 Pointed chin ................... HP:0000331 Short chin ................... HP:0010751 Dimple chin ................... HP:0011323 Cleft of chin ................... HP:0011822 Broad chin ................... HP:0011823 Chin with horizontal crease ................... HP:0011824 Chin with H-shaped crease ................... HP:0400000 Tall chin ................... HP:0400001 Chin with vertical crease ................... HP:3000007 Abnormality of mentalis muscle ................... HP:3000029 Abnormality of depressor labii inferioris
........Abnormality of the midface (HP:0000309) ................... HP:0004426 Abnormality of the cheek ................... HP:0011800 Midface retrusion ................... HP:0012369 Abnormality of malar bones ................... HP:0012371 Hyperplasia of midface ................... HP:0430026 Abnormality of the shape of the midface
........Abnormality of the orbital region (HP:0000315) ................... HP:0000589 Coloboma ................... HP:0030669 Abnormal ocular adnexa morphology ................... HP:0030670 Hamartoma of the orbital region ................... HP:0100886 Abnormality of globe location ................... HP:0100887 Abnormality of globe size ................... HP:3000030 Abnormality of bony orbit of skull
........Abnormality of the nose (HP:0000366) ................... HP:0000415 Abnormality of the choanae ................... HP:0000419 Abnormality of the nasal septum ................... HP:0000421 Epistaxis ................... HP:0000422 Abnormality of the nasal bridge ................... HP:0000433 Abnormality of the nasal mucosa ................... HP:0001739 Abnormality of the nasopharynx ................... HP:0001742 Nasal obstruction ................... HP:0004408 Abnormality of the sense of smell ................... HP:0005105 Abnormal nasal morphology ................... HP:0005288 Abnormality of the nares ................... HP:0005289 Abnormality of the nasolabial region ................... HP:0010640 Abnormality of the nasal cavity ................... HP:0010937 Abnormality of the nasal skeleton ................... HP:0010938 Abnormality of the external nose ................... HP:0012384 Rhinitis ................... HP:0012808 Abnormal nasal base ................... HP:0040057 Abnormality of nasal hair ................... HP:3000009 Abnormality of nasalis muscle ................... HP:3000014 Abnormality of procerus muscle
........Abnormality of the periorbital region (HP:0000606) ................... HP:0000534 Abnormal eyebrow morphology ................... HP:0000607 Periorbital wrinkles ................... HP:0000629 Periorbital fullness ................... HP:0001106 Periorbital hyperpigmentation ................... HP:0001144 Orbital cyst ................... HP:0011232 Infra-orbital fold ................... HP:0011336 Bitemporal forceps marks ................... HP:0025386 Bitemporal hollowing ................... HP:0025552 Periorbital purpura ................... HP:0025553 Periorbital ecchymosis with tarsal plate sparing ................... HP:0100538 Abnormality of the supraorbital ridges ................... HP:0100539 Periorbital edema ................... HP:0100876 Infra-orbital crease ................... HP:3000030 Abnormality of bony orbit of skull
........Abnormal facial shape (HP:0001999) ................... HP:0000274 Small face ................... HP:0000280 Coarse facial features ................... HP:0000295 Doll-like facies ................... HP:0000300 Oval face ................... HP:0000311 Round face ................... HP:0000320 Bird-like facies ................... HP:0000321 Square face ................... HP:0000324 Facial asymmetry ................... HP:0000325 Triangular face ................... HP:0004428 Elfin facies ................... HP:0005461 Craniofacial disproportion ................... HP:0011334 Facial shape deformation ................... HP:0012368 Flat face ................... HP:0100729 Large face ................... HP:0430026 Abnormality of the shape of the midface ................... HP:0500011 Moon facies
........Facial cleft (HP:0002006) ................... HP:0031571 Paramedian facial cleft ................... HP:0031574 Orbital cleft ................... HP:0100629 Midline facial cleft ................... HP:0100731 Transverse facial cleft
........Craniofacial dysostosis (HP:0004439) ................... HP:0005321 Mandibulofacial dysostosis ................... HP:0008497 Congenital craniofacial dysostosis
........Craniofacial hyperostosis (HP:0004493) ................... HP:0005465 Facial hyperostosis
........Abnormal facial expression (HP:0005346) ................... HP:0004673 Decreased facial expression ................... HP:0005324 Disturbance of facial expression
........Abnormality of facial soft tissue (HP:0011799) ................... HP:0000282 Facial edema ................... HP:0000291 Abnormality of facial adipose tissue ................... HP:0000301 Abnormality of facial musculature ................... HP:0000329 Facial hemangioma ................... HP:0009720 Adenoma sebaceum ................... HP:0040167 Facial papilloma ................... HP:0100837 Atrophodermia vermiculata
........Abnormality of the submandibular region (HP:0410013) ................... HP:3000008 Abnormality of mylohyoid muscle
Sister Nodes:
..Abnormal glossopharyngeal nerve morphology (HP:3000047)
..Abnormal great auricular nerve morphology (HP:3000048)
..Abnormal head blood vessel morphology (HP:3000036)
..Abnormal lingual nerve morphology (HP:3000075)
..Abnormal scalp morphology (HP:0001965)
..Abnormal skull morphology (HP:0000929)
..Abnormality of inferior alveolar nerve (HP:3000055)
..Abnormality of infra-orbital nerve (HP:3000061)
..Abnormality of occipitofrontalis muscle (HP:0040172)
..Abnormality of the pharynx (HP:0000600)
..Fixed head retroflexion (HP:0031178)
Genes (0) : Diseases (0) :
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
Copyright 2013-2024 The MSeqDR Consortium
All rights reserved

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen