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 prenatal development or birth (HP:0001197)

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

..Starting node
..Abnormal placental membrane morphology (HP:0011409)

Term ID:

11409

Name:

Abnormal placental membrane morphology

Synonym:

Abnormality of placental membranes

Definition:

Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix.

Comments:

Reference:

HP:0011409

Genes and Diseases:

Child Nodes:

........

Amniotic constriction ring (HP:0009775)

................... HP:0010483 Amniotic constriction rings of arms
................... HP:0010491 Digital constriction ring
................... HP:0010495 Amniotic constriction rings of legs

........

Amniotic Sheet (HP:0030763)

Sister Nodes:

Abnormal placenta morphology (HP:0100767)

Abnormality of the umbilical cord (HP:0010881)

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:0011409	HP:0011409	Abnormal placental membrane morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome		136
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans		199
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma		2
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome		6
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome		140
HP:0011409	HP:0011409	Abnormal placental membrane morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011409	HP:0033552	Chronic villitis	1	CL E G H
HP:0011409	HP:0030763	Amniotic Sheet	1	CL E G H
HP:0011409	HP:0009775	Amniotic constriction ring	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.	136
HP:0011409	HP:0009775	Amniotic constriction ring	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011409	HP:0009775	Amniotic constriction ring	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent	199
HP:0011409	HP:0009775	Amniotic constriction ring	1	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL		199
HP:0011409	HP:0009775	Amniotic constriction ring	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent	45
HP:0011409	HP:0009775	Amniotic constriction ring	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair		1
HP:0011409	HP:0009775	Amniotic constriction ring	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040283 - Occasional
HP:0011409	HP:0009775	Amniotic constriction ring	1	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.	2
HP:0011409	HP:0009775	Amniotic constriction ring	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040283 - Occasional	6
HP:0011409	HP:0009775	Amniotic constriction ring	1	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional	140
HP:0011409	HP:0025712	Spontaneous chorioamniotic separation	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal		83
HP:0011409	HP:0010495	Amniotic constriction rings of legs	2	CL E G H
HP:0011409	HP:0010483	Amniotic constriction rings of arms	2	CL E G H
HP:0011409	HP:0010491	Digital constriction ring	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia		68
HP:0011409	HP:0010491	Digital constriction ring	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis

Genes (12) :ATP6V1B2 FERMT1 GJA1 GJB2 GLE1 KANK2 LORICRIN POMP SMARCAD1 TBC1D24 TP63 ZMPSTE24

Diseases (12) :ORPHA:79500 OMIM:173650 ORPHA:1010 ORPHA:494 OMIM:124500 ORPHA:1486 OMIM:616099 ORPHA:79395 OMIM:601952 ORPHA:1658 ORPHA:1072 OMIM:275210

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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