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:
Aplasia/Hypoplasia of the skin (HP:0008065)

Parent Node:
Aplasia cutis congenita (HP:0001057)

..Starting node
..Aplasia cutis congenita on trunk or limbs (HP:0007589)

Term ID:

7589

Name:

Aplasia cutis congenita on trunk or limbs

Synonym:

Definition:

A developmental defect resulting in the congenital absence of skin on the trunk or the limbs.

Comments:

Reference:

HP:0007589

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia cutis congenita of scalp (HP:0007385)

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:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	110
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	173
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0007589	HP:0007589	Aplasia cutis congenita on trunk or limbs	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759

Genes (6) :ARHGAP31 ITGA6 ITGB4 KRT14 KRT5 PLEC

Diseases (6) :OMIM:100300 OMIM:619817 ORPHA:158684 OMIM:226730 ORPHA:79396 ORPHA:89838

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