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

..Starting node
..Abnormal fetal pulmonary morphology (HP:0034243)

Term ID:

34243

Name:

Abnormal fetal pulmonary morphology

Synonym:

Definition:

An anomlous structural finding of the fetal lungs. Terms in this subhierarchy are restricted to findings that can only be observed in the prenatal period. Other HPO terms can also be used to describe fetal phenotypes.

Comments:

Reference:

HP:0034243

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0034243	HP:0034243	Abnormal fetal pulmonary morphology	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0034243	HP:0034243	Abnormal fetal pulmonary morphology	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0034243	HP:0034243	Abnormal fetal pulmonary morphology	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		16
HP:0034243	HP:0034243	Abnormal fetal pulmonary morphology	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0034243	HP:0034243	Abnormal fetal pulmonary morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0034243	HP:0025676	Fetal pleural effusion	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0034243	HP:0010959	Congenital pulmonary airway malformation	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0034243	HP:0025676	Fetal pleural effusion	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		16
HP:0034243	HP:0010959	Congenital pulmonary airway malformation	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26
HP:0034243	HP:0010959	Congenital pulmonary airway malformation	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0034243	HP:0025727	Type 3 congenital pulmonary airway malformation	2	CL E G H
HP:0034243	HP:0025726	Type 2 congenital pulmonary airway malformation	2	CL E G H
HP:0034243	HP:0025725	Type 1 congenital pulmonary airway malformation	2	CL E G H
HP:0034243	HP:0025678	Fetal hydrothorax	2	CL E G H
HP:0034243	HP:0025677	Fetal chylothorax	2	MDFIC CL E G H	29969	28870	OMIM:620014

Genes (4) :MDFIC PI4KA RHD TTC7A

Diseases (4) :OMIM:620014 ORPHA:436252 OMIM:619462 OMIM:243150

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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