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:
Abnormality of prenatal development or birth (HP:0001197)

Parent Node:
Abnormality of the amniotic fluid (HP:0001560)

..Starting node
..Meconium stained amniotic fluid (HP:0012420)

Term ID:

12420

Name:

Meconium stained amniotic fluid

Synonym:

Meconium staining of amniotic fluid; Meconium-stained amniotic fluid

Definition:

Amniotic fluid containing the earliest stools of a mammalian infant.

Comments:

Reference:

HP:0012420

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fetal polyuria (HP:0001563)

Oligohydramnios (HP:0001562)

Polyhydramnios (HP:0001561)

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:0012420	HP:0012420	Meconium stained amniotic fluid	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	146
HP:0012420	HP:0012420	Meconium stained amniotic fluid	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	111
HP:0012420	HP:0012420	Meconium stained amniotic fluid	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0012420	HP:0012420	Meconium stained amniotic fluid	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	144
HP:0012420	HP:0012420	Meconium stained amniotic fluid	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional	14
HP:0012420	HP:0012420	Meconium stained amniotic fluid	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0012420	HP:0012420	Meconium stained amniotic fluid	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3		81

Genes (7) :ABCB11 ABCB4 ALDH7A1 ATP8B1 NR1H4 PLPBP SLC6A5

Diseases (3) :ORPHA:69665 ORPHA:3006 OMIM:614618

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