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:
Abnormalities of placenta or umbilical cord (HP:0001194)

Parent Node:
Abnormal placental membrane morphology (HP:0011409)

..Starting node
..Amniotic constriction ring (HP:0009775)

Term ID:

9775

Name:

Amniotic constriction ring

Synonym:

Amniotic bands; Amniotic constriction band; Congenital constriction band sequence; Pseudoainhum

Definition:

Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands.

Comments:

Reference:

HP:0009775

Genes and Diseases:

Child Nodes:

........

Amniotic constriction rings of arms (HP:0010483)

........

Digital constriction ring (HP:0010491)

........

Amniotic constriction rings of legs (HP:0010495)

Sister Nodes:

Amniotic Sheet (HP:0030763)

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:0009775	HP:0009775	Amniotic constriction ring	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.	136
HP:0009775	HP:0009775	Amniotic constriction ring	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0009775	HP:0009775	Amniotic constriction ring	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent	199
HP:0009775	HP:0009775	Amniotic constriction ring	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0009775	HP:0009775	Amniotic constriction ring	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent	45
HP:0009775	HP:0009775	Amniotic constriction ring	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0009775	HP:0009775	Amniotic constriction ring	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040283 - Occasional
HP:0009775	HP:0009775	Amniotic constriction ring	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.	2
HP:0009775	HP:0009775	Amniotic constriction ring	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040283 - Occasional	6
HP:0009775	HP:0009775	Amniotic constriction ring	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional	140
HP:0009775	HP:0010495	Amniotic constriction rings of legs	1	CL E G H
HP:0009775	HP:0010483	Amniotic constriction rings of arms	1	CL E G H
HP:0009775	HP:0010491	Digital constriction ring	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0009775	HP:0010491	Digital constriction ring	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis

Genes (9) :FERMT1 GJA1 GJB2 GLE1 KANK2 LORICRIN POMP SMARCAD1 TP63

Diseases (10) :OMIM:173650 ORPHA:1010 ORPHA:494 OMIM:124500 ORPHA:1486 OMIM:616099 ORPHA:79395 OMIM:601952 ORPHA:1658 ORPHA:1072

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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