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:
Abnormal forearm bone morphology (HP:0040072)

Parent Node:
Abnormal morphology of the radius (HP:0002818)

..Starting node
..Madelung-like forearm deformities (HP:0003068)

Term ID:

3068

Name:

Madelung-like forearm deformities

Synonym:

Definition:

Comments:

Reference:

HP:0003068

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal radial metaphysis morphology (HP:0004015)

Abnormality of radial diaphysis (HP:0004027)

Abnormality of radial epiphyses (HP:0003999)

Abnormality of the radial head (HP:0003995)

Aplasia/Hypoplasia of the radius (HP:0006501)

Exostoses of the radius (HP:0003986)

Humeroradial synostosis (HP:0003041)

Lytic defects of the radius (HP:0003979)

obsolete Abnormal morphology of the radius (HP:0045009)

Osteosclerosis of the radius (HP:0040061)

Pseudarthrosis of the radius (HP:0003980)

Radioulnar synostosis (HP:0002974)

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:0003068	HP:0003068	Madelung-like forearm deformities	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0003068	HP:0003068	Madelung-like forearm deformities	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102

Genes (2) :EXT1 EXT2

Diseases (2) :OMIM:133700 OMIM:133701

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