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

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

Grandparent Node:
Abnormal facial skeleton morphology (HP:0011821)

Parent Node:
Aplasia/Hypoplasia of the premaxilla (HP:0010756)

Parent Node:
Hypoplastic facial bones (HP:0002692)

..Starting node
..Hypoplasia of the premaxilla (HP:0010650)

Term ID:

10650

Name:

Hypoplasia of the premaxilla

Synonym:

Decreased size of premaxilla; Decreased size of the primary palate bone; Hypoplasia of the intermaxillary bone; Hypoplasia of the primary palate bone; Premaxillary bone deficiency; Premaxillary bone retrusion; Premaxillary retrusion; Premaxillary underdevelopment; Primary palate bone deficiency; Primary palate bone retrusion; Small premaxilla; Small primary palate bone; Underdevelopment of premaxilla; Underdevelopment of the premaxilla; Underdevelopment of the primary palate bone

Definition:

An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures.

Comments:

Reference:

HP:0010650

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the frontal bone (HP:0005466)

Hypoplasia of the zygomatic bone (HP:0010669)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010650	HP:0010650	Hypoplasia of the premaxilla	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0010650	HP:0010650	Hypoplasia of the premaxilla	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0010650	HP:0010650	Hypoplasia of the premaxilla	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional	15

Genes (3) :GLI2 PTCH1 SMOC1

Diseases (3) :OMIM:610829 OMIM:610828 ORPHA:1106

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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