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:
Localized skin lesion (HP:0011355)

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

..Starting node
..Aplasia cutis congenita (HP:0001057)

Term ID:

1057

Name:

Aplasia cutis congenita

Synonym:

Absence of part of skin at birth; Congenital absence of skin; Congenital scars; Cutis aplasia

Definition:

A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.

Comments:

Reference:

HP:0001057

Genes and Diseases:

Child Nodes:

........

Aplasia cutis congenita of scalp (HP:0007385)

................... HP:0004471 Aplasia cutis congenita over the scalp vertex
................... HP:0004476 Aplasia cutis congenita over parietal area

........

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

Sister Nodes:

Asymmetric, linear skin defects (HP:0007398)

Congenital localized absence of skin (HP:0007383)

Dermal atrophy (HP:0004334)

Focal dermal aplasia/hypoplasia (HP:0007510)

Hypoplastic pilosebaceous units (HP:0007515)

Hypoplastic-absent sebaceous glands (HP:0007411)

Thin skin (HP:0000963)

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:0001057	HP:0001057	Aplasia cutis congenita	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2		132
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	147
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040283 - Occasional	5
HP:0001057	HP:0001057	Aplasia cutis congenita	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0001057	HP:0001057	Aplasia cutis congenita	0	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0001057	HP:0001057	Aplasia cutis congenita	0	COL17A1 CL E G H	1308	2194	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	129
HP:0001057	HP:0001057	Aplasia cutis congenita	0	COL17A1 CL E G H	1308	2194	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	129
HP:0001057	HP:0001057	Aplasia cutis congenita	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional	263
HP:0001057	HP:0001057	Aplasia cutis congenita	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	263
HP:0001057	HP:0001057	Aplasia cutis congenita	0	COL7A1 CL E G H	1294	2214	ORPHA:79411	Self-improving dystrophic epidermolysis bullosa	HP:0040283 - Occasional	263
HP:0001057	HP:0001057	Aplasia cutis congenita	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040280 - Obligate	6
HP:0001057	HP:0001057	Aplasia cutis congenita	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome		1
HP:0001057	HP:0001057	Aplasia cutis congenita	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001057	HP:0001057	Aplasia cutis congenita	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001057	HP:0001057	Aplasia cutis congenita	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001057	HP:0001057	Aplasia cutis congenita	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	9
HP:0001057	HP:0001057	Aplasia cutis congenita	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6		9
HP:0001057	HP:0001057	Aplasia cutis congenita	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0001057	HP:0001057	Aplasia cutis congenita	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	18
HP:0001057	HP:0001057	Aplasia cutis congenita	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.	18
HP:0001057	HP:0001057	Aplasia cutis congenita	0	DSP CL E G H	1832	3052	OMIM:609638	EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA		747
HP:0001057	HP:0001057	Aplasia cutis congenita	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	4
HP:0001057	HP:0001057	Aplasia cutis congenita	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4		4
HP:0001057	HP:0001057	Aplasia cutis congenita	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001057	HP:0001057	Aplasia cutis congenita	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome		6
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional	79
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	124
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGB4 CL E G H	3691	6158	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	124
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040283 - Occasional	124
HP:0001057	HP:0001057	Aplasia cutis congenita	0	ITGB4 CL E G H	3691	6158	ORPHA:251393	Localized junctional epidermolysis bullosa	HP:0040283 - Occasional	124
HP:0001057	HP:0001057	Aplasia cutis congenita	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	.	11
HP:0001057	HP:0001057	Aplasia cutis congenita	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0001057	HP:0001057	Aplasia cutis congenita	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	110
HP:0001057	HP:0001057	Aplasia cutis congenita	0	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex		110
HP:0001057	HP:0001057	Aplasia cutis congenita	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	173
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LAMA3 CL E G H	3909	6483	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	116
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	116
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LAMB3 CL E G H	3914	6490	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	167
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	167
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LAMC2 CL E G H	3918	6493	ORPHA:79402	Intermediate generalized junctional epidermolysis bullosa	HP:0040281 - Very frequent	135
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional	135
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome		2
HP:0001057	HP:0001057	Aplasia cutis congenita	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001057	HP:0001057	Aplasia cutis congenita	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0001057	HP:0001057	Aplasia cutis congenita	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional	6
HP:0001057	HP:0001057	Aplasia cutis congenita	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0001057	HP:0001057	Aplasia cutis congenita	0	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina		45
HP:0001057	HP:0001057	Aplasia cutis congenita	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001057	HP:0001057	Aplasia cutis congenita	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	452
HP:0001057	HP:0001057	Aplasia cutis congenita	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0001057	HP:0001057	Aplasia cutis congenita	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome		118
HP:0001057	HP:0001057	Aplasia cutis congenita	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001057	HP:0001057	Aplasia cutis congenita	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome		7
HP:0001057	HP:0001057	Aplasia cutis congenita	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita		759
HP:0001057	HP:0001057	Aplasia cutis congenita	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia		759
HP:0001057	HP:0001057	Aplasia cutis congenita	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040282 - Frequent	759
HP:0001057	HP:0001057	Aplasia cutis congenita	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0001057	HP:0001057	Aplasia cutis congenita	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040281 - Very frequent	3
HP:0001057	HP:0001057	Aplasia cutis congenita	0	RBPJ CL E G H	3516	5724	OMIM:614814	Adams-Oliver syndrome 3	.	3
HP:0001057	HP:0001057	Aplasia cutis congenita	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0001057	HP:0001057	Aplasia cutis congenita	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0001057	HP:0001057	Aplasia cutis congenita	0	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001057	HP:0001057	Aplasia cutis congenita	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0001057	HP:0001057	Aplasia cutis congenita	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome		25
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	ALX4 CL E G H	60529	450	OMIM:609597	Parietal foramina 2	.	132
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita		1
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.	9
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita		9
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	ITGA6 CL E G H	3655	6142	OMIM:619817	EPIDERMOLYSIS BULLOSA, JUNCTIONAL 6, WITH PYLORIC ATRESIA; JEB6		79
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita		124
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	124
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	110
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	KRT14 CL E G H	3861	6416	ORPHA:89838	Autosomal recessive generalized epidermolysis bullosa simplex	HP:0040283 - Occasional	110
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040282 - Frequent	173
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	MSX2 CL E G H	4488	7392	OMIM:168500	Parietal foramina	.	45
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita		759
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional	759
HP:0001057	HP:0007589	Aplasia cutis congenita on trunk or limbs	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	UBA2 CL E G H	10054	30661	OMIM:619959
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0001057	HP:0007385	Aplasia cutis congenita of scalp	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.	25
HP:0001057	HP:0004476	Aplasia cutis congenita over parietal area	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0001057	HP:0004471	Aplasia cutis congenita over the scalp vertex	2	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	1
HP:0001057	HP:0004471	Aplasia cutis congenita over the scalp vertex	2	BMS1 CL E G H	9790	23505	OMIM:107600	APLASIA CUTIS CONGENITA, NONSYNDROMIC; ACC		1
HP:0001057	HP:0004471	Aplasia cutis congenita over the scalp vertex	2	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	9
HP:0001057	HP:0004471	Aplasia cutis congenita over the scalp vertex	2	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	124
HP:0001057	HP:0004471	Aplasia cutis congenita over the scalp vertex	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0001057	HP:0004471	Aplasia cutis congenita over the scalp vertex	2	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent	759
HP:0001057	HP:0004471	Aplasia cutis congenita over the scalp vertex	2	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040281 - Very frequent
HP:0001057	HP:0007536	Aplasia cutis congenita of midline scalp vertex	3	CL E G H
HP:0001057	HP:0007590	Aplasia cutis congenita over posterior parietal area	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147

Genes (39) :ALG9 ALX4 ARHGAP31 ATP6V1B2 BMS1 COL17A1 COL7A1 COX7B CPLX1 CTBP1 DLL4 DOCK6 DSP EOGT FGFRL1 HSPA9 ITGA6 ITGB4 KCTD1 KRAS KRT14 KRT5 LAMA3 LAMB3 LAMC2 LETM1 MCTP2 MMP1 MSX2 NELFA NOTCH1 NSD2 PIGG PLEC RBPJ TAF1 TFAP2A UBA2 UBR1

Diseases (39) :ORPHA:79328 ORPHA:60015 OMIM:609597 ORPHA:974 OMIM:100300 ORPHA:79499 ORPHA:1114 OMIM:107600 ORPHA:79402 ORPHA:251393 ORPHA:89842 ORPHA:79408 ORPHA:79411 OMIM:300887 ORPHA:280 OMIM:194190 OMIM:616589 OMIM:614219 OMIM:609638 OMIM:615297 OMIM:616854 OMIM:619817 ORPHA:79403 ORPHA:158684 OMIM:226730 OMIM:181270 OMIM:600268 ORPHA:79396 ORPHA:89838 ORPHA:79404 ORPHA:1596 OMIM:168500 OMIM:616028 OMIM:612138 OMIM:614814 OMIM:300966 OMIM:113620 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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