Human Phenotype Ontology

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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 cutis congenita (HP:0001057)

Parent Node:
Aplasia cutis congenita of scalp (HP:0007385)

..Starting node
..Aplasia cutis congenita over the scalp vertex (HP:0004471)

Term ID:

4471

Name:

Aplasia cutis congenita over the scalp vertex

Synonym:

Absent cutis congenita of vertex; Aplasia cutis congenita of vertex

Definition:

A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline.

Comments:

Reference:

HP:0004471

Genes and Diseases:

Child Nodes:

........

Aplasia cutis congenita of midline scalp vertex (HP:0007536)

Sister Nodes:

Aplasia cutis congenita over parietal area (HP:0004476)

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:0004471	HP:0004471	Aplasia cutis congenita over the scalp vertex	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	1
HP:0004471	HP:0004471	Aplasia cutis congenita over the scalp vertex	0	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0004471	HP:0004471	Aplasia cutis congenita over the scalp vertex	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	9
HP:0004471	HP:0004471	Aplasia cutis congenita over the scalp vertex	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	124
HP:0004471	HP:0004471	Aplasia cutis congenita over the scalp vertex	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0004471	HP:0004471	Aplasia cutis congenita over the scalp vertex	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	759
HP:0004471	HP:0004471	Aplasia cutis congenita over the scalp vertex	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0004471	HP:0007536	Aplasia cutis congenita of midline scalp vertex	1	CL E G H

Genes (6) :BMS1 DLL4 ITGB4 MCTP2 PLEC UBA2

Diseases (3) :ORPHA:1114 OMIM:107600 ORPHA:1596

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