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 body height (HP:0000002)

Grandparent Node:
Growth delay (HP:0001510)

Parent Node:
Short stature (HP:0004322)

..Starting node
..Birth length less than 3rd percentile (HP:0003561)

Term ID:

3561

Name:

Birth length less than 3rd percentile

Synonym:

Birth length < 3rd percentile; Birth length <3rd percentile

Definition:

Comments:

Reference:

HP:0003561

Genes and Diseases:

Child Nodes:

Sister Nodes:

Asymmetric short stature (HP:0008929)

Disproportionate short stature (HP:0003498)

Pituitary dwarfism (HP:0000839)

Proportionate short stature (HP:0003508)

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:0003561	HP:0003561	Birth length less than 3rd percentile	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent	134
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	DYRK1A CL E G H	1859	3091	OMIM:614104	Mental retardation, autosomal dominant 7		134
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome		8
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5		2
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	PLAG1 CL E G H	5324	9045	OMIM:618907	SILVER-RUSSELL SYNDROME 4; SRS4		3
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0003561	HP:0003561	Birth length less than 3rd percentile	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52

Genes (15) :B3GLCT CDC6 CDT1 DYRK1A EIF2S3 FIG4 HMGA2 ORC1 ORC4 ORC6 PIK3R1 PLAG1 SMAD4 SMPD4 TBCE

Diseases (16) :OMIM:261540 OMIM:613805 OMIM:613804 ORPHA:464311 OMIM:614104 OMIM:300148 OMIM:216340 OMIM:618908 OMIM:224690 OMIM:613800 OMIM:613803 OMIM:269880 OMIM:618907 OMIM:139210 OMIM:618622 OMIM:244460

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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