Human Phenotype Ontology

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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:
Abnormality of skin morphology (HP:0011121)

Parent Node:
Generalized abnormality of skin (HP:0011354)

..Starting node
..Desquamation of skin soon after birth (HP:0007549)

Term ID:

7549

Name:

Desquamation of skin soon after birth

Synonym:

Definition:

Comments:

Reference:

HP:0007549

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of subcutaneous fat tissue (HP:0001001)

Cutaneous photosensitivity (HP:0000992)

Dermatological manifestations of systemic disorders (HP:0001005)

Ectodermal dysplasia (HP:0000968)

Flushing (HP:0031284)

Fragile skin (HP:0001030)

Generalized papillary lesions (HP:0007482)

Poor wound healing (HP:0001058)

Prematurely aged appearance (HP:0007495)

Subcutaneous calcification (HP:0007618)

Vascular skin abnormality (HP:0011276)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		75
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		515
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.	HP:0003577 - Congenital onset
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional		148
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		48
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		88
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		127
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		50
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		37
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent		26
HP:0007549	HP:0007549	Desquamation of skin soon after birth	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.		98

Genes (13) :ADA CHD7 DCLRE1C GBA1 HLCS IL2RG IL7R LIG4 RAG1 RAG2 RMRP SLC27A4 TGM1

Diseases (5) :ORPHA:39041 OMIM:608013 ORPHA:79242 ORPHA:88621 OMIM:242300

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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