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
..Proportionate tall stature (HP:0011407)

Term ID:

11407

Name:

Proportionate tall stature

Synonym:

Definition:

Comments:

Reference:

HP:0011407

Genes and Diseases:

Child Nodes:

Sister Nodes:

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

Disproportionate tall stature (HP:0001519)

Overgrowth (HP:0001548)

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:0011407	HP:0011407	Proportionate tall stature	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0011407	HP:0011407	Proportionate tall stature	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	95
HP:0011407	HP:0011407	Proportionate tall stature	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0011407	HP:0011407	Proportionate tall stature	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0011407	HP:0011407	Proportionate tall stature	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0011407	HP:0011407	Proportionate tall stature	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0011407	HP:0011407	Proportionate tall stature	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0011407	HP:0011407	Proportionate tall stature	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0011407	HP:0011407	Proportionate tall stature	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0011407	HP:0011407	Proportionate tall stature	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040281 - Very frequent	44
HP:0011407	HP:0011407	Proportionate tall stature	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0011407	HP:0011407	Proportionate tall stature	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0011407	HP:0011407	Proportionate tall stature	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0011407	HP:0011407	Proportionate tall stature	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent	462
HP:0011407	HP:0011407	Proportionate tall stature	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent	1952
HP:0011407	HP:0011407	Proportionate tall stature	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42

Genes (15) :AGPAT2 AIP BSCL2 CAV1 CAVIN1 CDKN1A CDKN1B CDKN2B CDKN2C DNMT3A FIBP FOS MEN1 NF1 PPARG

Diseases (6) :ORPHA:528 ORPHA:99725 ORPHA:652 ORPHA:404443 ORPHA:500095 ORPHA:363700

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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