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:
Limb undergrowth (HP:0009826)

Parent Node:
Mesomelia (HP:0003027)

..Starting node
..Acromesomelia (HP:0003086)

Term ID:

3086

Name:

Acromesomelia

Synonym:

Definition:

Small hands and feet.

Comments:

Reference:

HP:0003086

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mesomelic arm shortening (HP:0005011)

Mesomelic leg shortening (HP:0004987)

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:0003086	HP:0003086	Acromesomelia	0	GDF5 CL E G H	8200	4220	ORPHA:968	Acromesomelic dysplasia, Hunter-Thompson type	HP:0040281 - Very frequent	52
HP:0003086	HP:0003086	Acromesomelia	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0003086	HP:0003086	Acromesomelia	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0003086	HP:0003086	Acromesomelia	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0003086	HP:0003086	Acromesomelia	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0003086	HP:0003086	Acromesomelia	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0003086	HP:0003086	Acromesomelia	0	NPR2 CL E G H	4882	7944	ORPHA:40	Acromesomelic dysplasia, Maroteaux type	HP:0040282 - Frequent	53
HP:0003086	HP:0003086	Acromesomelia	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3

Genes (5) :GDF5 KIF15 NGLY1 NPR2 RAC1

Diseases (8) :ORPHA:968 OMIM:201250 OMIM:200700 ORPHA:261323 ORPHA:404454 OMIM:602875 ORPHA:40 ORPHA:500159

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