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/Hypoplasia of the skin (HP:0008065)

Parent Node:
Aplasia cutis congenita (HP:0001057)

..Starting node
..Aplasia cutis congenita of scalp (HP:0007385)

Term ID:

7385

Name:

Aplasia cutis congenita of scalp

Synonym:

Defect of scalp; Focal absence of scalp tissue; Scalp aplasia cutis congenita; Scalp defect; Solitary scalp defect

Definition:

A developmental defect resulting in the congenital absence of skin on the scalp.

Comments:

Reference:

HP:0007385

Genes and Diseases:

Child Nodes:

........

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

................... HP:0007536 Aplasia cutis congenita of midline scalp vertex

........

Aplasia cutis congenita over parietal area (HP:0004476)

................... HP:0007590 Aplasia cutis congenita over posterior parietal area

Sister Nodes:

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

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:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.	132
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.	45
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita		759
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0007385	HP:0007385	Aplasia cutis congenita of scalp	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0007385	HP:0004476	Aplasia cutis congenita over parietal area	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0007385	HP:0004471	Aplasia cutis congenita over the scalp vertex	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	1
HP:0007385	HP:0004471	Aplasia cutis congenita over the scalp vertex	1	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0007385	HP:0004471	Aplasia cutis congenita over the scalp vertex	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	9
HP:0007385	HP:0004471	Aplasia cutis congenita over the scalp vertex	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	124
HP:0007385	HP:0004471	Aplasia cutis congenita over the scalp vertex	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0007385	HP:0004471	Aplasia cutis congenita over the scalp vertex	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	759
HP:0007385	HP:0004471	Aplasia cutis congenita over the scalp vertex	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0007385	HP:0007536	Aplasia cutis congenita of midline scalp vertex	2	CL E G H
HP:0007385	HP:0007590	Aplasia cutis congenita over posterior parietal area	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147

Genes (19) :ALG9 ALX4 ARHGAP31 BMS1 CPLX1 CTBP1 DLL4 FGFRL1 ITGA6 ITGB4 LETM1 MCTP2 MSX2 NELFA NSD2 PIGG PLEC UBA2 UBR1

Diseases (15) :ORPHA:79328 ORPHA:60015 OMIM:609597 OMIM:100300 ORPHA:1114 OMIM:107600 OMIM:194190 ORPHA:280 OMIM:616589 OMIM:619817 ORPHA:158684 ORPHA:1596 OMIM:168500 OMIM:619959 OMIM:243800

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

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