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:
Aplasia/hypoplasia of the extremities (HP:0009815)

Parent Node:
Asymmetric growth (HP:0100555)

Parent Node:
Limb undergrowth (HP:0009826)

..Starting node
..Hemiatrophy (HP:0100556)

Term ID:

100556

Name:

Hemiatrophy

Synonym:

Asymmetric limb shortening; Hemiatrophy of the body

Definition:

Undergrowth of the limbs that affects only one side.

Comments:

Reference:

HP:0100556

Genes and Diseases:

Child Nodes:

........

Hemiatrophy of lower limb (HP:0100557)

........

Hemiatrophy of upper limb (HP:0100558)

........

Hemihypotrophy of lower limb (HP:0200053)

Sister Nodes:

Distal shortening of limbs (HP:0006402)

Lower limb undergrowth (HP:0009816)

Meromelia (HP:0030728)

Mesomelia (HP:0003027)

Micromelia (HP:0002983)

Rhizomelia (HP:0008905)

Upper limb undergrowth (HP:0009824)

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:0100556	HP:0100556	Hemiatrophy	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0100556	HP:0100556	Hemiatrophy	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0100556	HP:0100556	Hemiatrophy	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0100556	HP:0100556	Hemiatrophy	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100556	HP:0100556	Hemiatrophy	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0100556	HP:0100556	Hemiatrophy	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100556	HP:0100558	Hemiatrophy of upper limb	1	CL E G H
HP:0100556	HP:0100557	Hemiatrophy of lower limb	1	CL E G H
HP:0100556	HP:0200053	Hemihypotrophy of lower limb	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0100556	HP:0200053	Hemihypotrophy of lower limb	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0100556	HP:0200053	Hemihypotrophy of lower limb	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	4
HP:0100556	HP:0200053	Hemihypotrophy of lower limb	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (6) :BPTF EBP EFNB1 HRAS PSMD12 ZNF699

Diseases (5) :ORPHA:529962 OMIM:302960 OMIM:304110 ORPHA:2874 OMIM:619488

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