Human Phenotype Ontology

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 the upper limb (HP:0002817)

Parent Node:
Abnormal forearm morphology (HP:0002973)

..Starting node
..Forearm reduction defects (HP:0006368)

Term ID:

6368

Name:

Forearm reduction defects

Synonym:

Definition:

Comments:

Reference:

HP:0006368

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal forearm bone morphology (HP:0040072)

Abnormality of the radioulnar joints (HP:0003059)

Absent forearm (HP:0005632)

Bone-in-a-bone appearance of forearm (HP:0003955)

Calcification of the interosseus membrane of the forearm (HP:0030267)

Ectopic respiratory mucosa (HP:0100241)

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:0006368	HP:0006368	Forearm reduction defects	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0006368	HP:0006368	Forearm reduction defects	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3

Genes (2) :RECQL4 RPL26

Diseases (2) :OMIM:268400 OMIM:614900

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