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 involving forearm bones (HP:0006503)

Grandparent Node:
obsolete Abnormality of the ulna (HP:0002997)

Parent Node:
Absent forearm bone (HP:0003953)

Parent Node:
Aplasia involving forearm bones (HP:0009822)

Parent Node:
Aplasia/Hypoplasia of the ulna (HP:0006495)

..Starting node
..Aplasia of the ulna (HP:0003982)

Term ID:

3982

Name:

Aplasia of the ulna

Synonym:

Absent ossification/absent ulna; Absent ulna; Absent ulnae

Definition:

Missing ulna bone associated with congenital failure of development.

Comments:

Reference:

HP:0003982

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplasia of the ulna (HP:0003022)

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:0003982	HP:0003982	Aplasia of the ulna	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0003982	HP:0003982	Aplasia of the ulna	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0003982	HP:0003982	Aplasia of the ulna	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.	100
HP:0003982	HP:0003982	Aplasia of the ulna	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0003982	HP:0003982	Aplasia of the ulna	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0003982	HP:0003982	Aplasia of the ulna	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13

Genes (4) :LMBR1 TBX3 TBX5 WNT7A

Diseases (6) :ORPHA:931 OMIM:200500 OMIM:181450 OMIM:142900 ORPHA:2879 OMIM:276820

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