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:
Disproportionate short-limb short stature (HP:0008873)

Grandparent Node:
Limb undergrowth (HP:0009826)

Parent Node:
Rhizomelia (HP:0008905)

..Starting node
..Rhizomelic arm shortening (HP:0004991)

Term ID:

4991

Name:

Rhizomelic arm shortening

Synonym:

Definition:

Disproportionate shortening of the proximal segment of the arm (i.e. the humerus).

Comments:

Reference:

HP:0004991

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mesomelic/rhizomelic limb shortening (HP:0005026)

Rhizo-meso-acromelic limb shortening (HP:0005069)

Rhizomelic leg shortening (HP:0012106)

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:0004991	HP:0004991	Rhizomelic arm shortening	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0004991	HP:0004991	Rhizomelic arm shortening	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0004991	HP:0004991	Rhizomelic arm shortening	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0004991	HP:0004991	Rhizomelic arm shortening	0	FZD2 CL E G H	2535	4040	OMIM:164745	OMODYSPLASIA	.
HP:0004991	HP:0004991	Rhizomelic arm shortening	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0004991	HP:0004991	Rhizomelic arm shortening	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0004991	HP:0004991	Rhizomelic arm shortening	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0004991	HP:0004991	Rhizomelic arm shortening	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166

Genes (8) :CSPP1 DYM FGFR2 FZD2 GPX4 KIAA0586 MYSM1 SLC26A2

Diseases (7) :ORPHA:397715 OMIM:223800 OMIM:101200 OMIM:164745 ORPHA:93317 ORPHA:508542 ORPHA:56304

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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