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:
Low APGAR score (HP:0030917)

..Starting node
..Low 1-minute APGAR score (HP:0030918)

Term ID:

30918

Name:

Low 1-minute APGAR score

Synonym:

Low one-minute APGAR score

Definition:

Comments:

Reference:

HP:0030918

Genes and Diseases:

Child Nodes:

........

1-minute APGAR score of 0 (HP:0030927)

........

1-minute APGAR score of 1 (HP:0030928)

........

1-minute APGAR score of 2 (HP:0030929)

........

1-minute APGAR score of 3 (HP:0030930)

........

1-minute APGAR score of 4 (HP:0030931)

........

1-minute APGAR score of 5 (HP:0030932)

........

1-minute APGAR score of 6 (HP:0030933)

Sister Nodes:

Low 5-minute APGAR score (HP:0030919)

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:0030918	HP:0030918	Low 1-minute APGAR score	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0030918	HP:0030918	Low 1-minute APGAR score	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0030918	HP:0030933	1-minute APGAR score of 6	1	CL E G H
HP:0030918	HP:0030932	1-minute APGAR score of 5	1	CL E G H
HP:0030918	HP:0030931	1-minute APGAR score of 4	1	CL E G H
HP:0030918	HP:0030930	1-minute APGAR score of 3	1	CL E G H
HP:0030918	HP:0030929	1-minute APGAR score of 2	1	CL E G H
HP:0030918	HP:0030928	1-minute APGAR score of 1	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0030918	HP:0030927	1-minute APGAR score of 0	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional	49
HP:0030918	HP:0030928	1-minute APGAR score of 1	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27

Genes (15) :FGFR3 HERC2 IPW MAGEL2 MCTP2 MKRN3 MKRN3-AS1 MTM1 NPAP1 PRPS1 PWAR1 PWRN1 SNORD115-1 SNORD116-1 USP9X

Diseases (6) :OMIM:187600 OMIM:176270 ORPHA:1596 OMIM:310400 ORPHA:423479 ORPHA:480880

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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