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 body height (HP:0000002)

Parent Node:
Tall stature (HP:0000098)

..Starting node
..Birth length greater than 97th percentile (HP:0003517)

Term ID:

3517

Name:

Birth length greater than 97th percentile

Synonym:

Fetal overgrowth; Foetal overgrowth

Definition:

Comments:

Reference:

HP:0003517

Genes and Diseases:

Child Nodes:

Sister Nodes:

Disproportionate tall stature (HP:0001519)

Overgrowth (HP:0001548)

Proportionate tall stature (HP:0011407)

Slender build (HP:0001533)

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:0003517	HP:0003517	Birth length greater than 97th percentile	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0003517	HP:0003517	Birth length greater than 97th percentile	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003517	HP:0003517	Birth length greater than 97th percentile	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.	185
HP:0003517	HP:0003517	Birth length greater than 97th percentile	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0003517	HP:0003517	Birth length greater than 97th percentile	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1

Genes (5) :GPC3 GPC4 MTM1 PIGA SUZ12

Diseases (4) :OMIM:312870 OMIM:310400 OMIM:300868 OMIM:618786

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